#ID(s) interactor A ID(s) interactor B Alt. ID(s) interactor A Alt. ID(s) interactor B Alias(es) interactor A Alias(es) interactor B Interaction detection method(s) Publication 1st author(s) Publication Identifier(s) Taxid interactor A Taxid interactor B Interaction type(s) Source database(s) Interaction identifier(s) Confidence value(s) Expansion method(s) Biological role(s) interactor A Biological role(s) interactor B Experimental role(s) interactor A Experimental role(s) interactor B Type(s) interactor A Type(s) interactor B Xref(s) interactor A Xref(s) interactor B Interaction Xref(s) Annotation(s) interactor A Annotation(s) interactor B Interaction annotation(s) Host organism(s) Interaction parameter(s) Creation date Update date Checksum(s) interactor A Checksum(s) interactor B Interaction Checksum(s) Negative Feature(s) interactor A Feature(s) interactor B Stoichiometry(s) interactor A Stoichiometry(s) interactor B Identification method participant A Identification method participant B uniprotkb:Q13363 uniprotkb:Q9NZM1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1994363|uniprotkb:Q5VWW2|uniprotkb:Q5VWW3|uniprotkb:Q5VWW4|uniprotkb:Q5VWW5|uniprotkb:Q7Z642|uniprotkb:Q8IWH0|uniprotkb:Q9HBU3|uniprotkb:Q9NZM0|uniprotkb:Q9ULL3|uniprotkb:Q9Y4U4|uniprotkb:B3KQN5|ensembl:ENSP00000352208 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myof_human(display_long)|uniprotkb:MYOF(gene name)|psi-mi:MYOF(display_short)|uniprotkb:KIAA1207(gene name synonym)|uniprotkb:FER1L3(gene name synonym)|uniprotkb:Fer-1-like protein 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_038479.1|refseq:NP_579899.1|go:"GO:0070062"(extracellular exosome)|interpro:IPR000008(C2 calcium-dependent membrane targeting)|interpro:IPR006614(Dysferlin, C-terminal)|interpro:IPR012560(FerA)|interpro:IPR012561(FerB)|interpro:IPR012968(FerI)|interpro:IPR029999|interpro:IPR032362|interpro:IPR035892|interpro:IPR037720|interpro:IPR037721|interpro:IPR037722|interpro:IPR037723|interpro:IPR037724|interpro:IPR037725|interpro:IPR037726|mint:Q9NZM1|rcsb pdb:2DMH|rcsb pdb:2K2O|rcsb pdb:6EEL|ensembl:ENSG00000138119(gene)|ensembl:ENST00000359263(transcript)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0005543"(phospholipid binding)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005886"(plasma membrane)|go:"GO:0005901"(caveola)|go:"GO:0006936"(muscle contraction)|go:"GO:0007009"(plasma membrane organization)|go:"GO:0007520"(myoblast fusion)|go:"GO:0008015"(blood circulation)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031965"(nuclear membrane)|go:"GO:0033292"(T-tubule organization)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0046872"(metal ion binding)|go:"GO:0061025"(membrane fusion) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YbWzqcootZO0/w6OLRqxZEEAu9U9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P16104 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-494830|uniprotkb:Q4ZGJ7|uniprotkb:Q6IAS5|ensembl:ENSP00000364310|ensembl:ENSP00000434024 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2ax_human(display_long)|uniprotkb:H2AX(gene name)|psi-mi:H2AX(display_short)|uniprotkb:H2AFX(gene name synonym)|uniprotkb:Histone H2A.X(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000188486(gene)|ensembl:ENST00000375167(transcript)|ensembl:ENST00000530167(transcript)|go:"GO:0000077"(DNA damage checkpoint signaling)|go:"GO:0000724"(double-strand break repair via homologous recombination)|go:"GO:0000786"(nucleosome)|go:"GO:0000794"(condensed nuclear chromosome)|go:"GO:0001673"(male germ cell nucleus)|go:"GO:0001741"(XY body)|go:"GO:0003677"(DNA binding)|go:"GO:0003684"(damaged DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005657"(replication fork)|refseq:NP_002096.1|dip:DIP-33604N|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214858|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-5693565|reactome:R-HSA-5693571|reactome:R-HSA-5693607|reactome:R-HSA-606279|reactome:R-HSA-69473|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-977225|go:"GO:0005813"(centrosome)|go:"GO:0006302"(double-strand break repair)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0006342"|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0007283"(spermatogenesis)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0016607"(nuclear speck)|go:"GO:0019899"(enzyme binding)|go:"GO:0021987"(cerebral cortex development)|go:"GO:0035861"(site of double-strand break)|go:"GO:0042393"(histone binding)|go:"GO:0045739"(positive regulation of DNA repair)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0051321"(meiotic cell cycle)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071480"(cellular response to gamma radiation)|go:"GO:0090398"(cellular senescence)|go:"GO:0090734"(site of DNA damage)|interpro:IPR002119(Histone H2A)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|interpro:IPR032454|interpro:IPR032458|mint:P16104|rcsb pdb:1YDP|rcsb pdb:2AZM|rcsb pdb:2D31|rcsb pdb:2DYP|rcsb pdb:3SHV|rcsb pdb:3SQD|rcsb pdb:3SZM|rcsb pdb:3U3Z|rcsb pdb:6K1I|rcsb pdb:6K1J|rcsb pdb:6K1K intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VQoEp3F8lEBTOj+PDDUzrJCQNZA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EW20 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11324728|ensembl:ENSP00000358998 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7ew20_human(display_long)|uniprotkb:MYO6(gene name)|psi-mi:MYO6(display_short)|uniprotkb:Unconventional myosin-VI(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000196586(gene)|ensembl:ENST00000369981(transcript)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0005902"(microvillus)|go:"GO:0030175"(filopodium)|go:"GO:0032587"(ruffle membrane)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051015"(actin filament binding)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR008989(Myosin S1 fragment, N-terminal)|interpro:IPR027417|interpro:IPR032412|interpro:IPR036114|interpro:IPR036961|go:"GO:0005905"(clathrin-coated pit)|go:"GO:0006897"(endocytosis)|go:"GO:0007605"(sensory perception of sound)|go:"GO:0015031"(protein transport)|go:"GO:0016459"(myosin complex)|go:"GO:0030136"(clathrin-coated vesicle) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fDuAUFquqQVooM4D49G3c1ByyNs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:D6RG13 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-8011725|intact:MINT-8395023|ensembl:ENSP00000426466 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:d6rg13_human(display_long)|uniprotkb:RPS3A(gene name)|psi-mi:RPS3A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000145425(gene)|ensembl:ENST00000510993(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001593(Ribosomal protein S3Ae)|interpro:IPR018281|interpro:IPR027500 intact:EBI-27045766(see-also) - comment:mint|comment:homomint figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:QIniEj5yhOuYFViojNvlloOGNDk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9J9K3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-8011875|intact:MINT-8395011|ensembl:ENSP00000410848 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9j9k3_human(display_long)|uniprotkb:RPSA(gene name)|psi-mi:RPSA(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000168028(gene)|ensembl:ENST00000458478(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005737"(cytoplasm)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|interpro:IPR001865(Ribosomal protein S2)|interpro:IPR005707(Ribosomal protein S2, eukaryotic/archaeal)|interpro:IPR018130|interpro:IPR023591|interpro:IPR027498|interpro:IPR032281 intact:EBI-27045766(see-also) - comment:mint|comment:homomint figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:slFqShCmEHqqyQj4TKTsI7Vum3s9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y320 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6447886|ensembl:ENSP00000278422|uniprotkb:B7Z4R4|uniprotkb:Q8NBP9|uniprotkb:Q5J7Q7|uniprotkb:Q561W0|uniprotkb:Q53G73|uniprotkb:Q9H3L1|intact:EBI-7128726|intact:MINT-6945923 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tmx2_human(display_long)|uniprotkb:Cell proliferation-inducing gene 26 protein(gene name synonym)|uniprotkb:TXNDC14(gene name synonym)|uniprotkb:Thioredoxin domain-containing protein 14(gene name synonym)|uniprotkb:CGI-31(orf name)|uniprotkb:My009(orf name)|uniprotkb:PIG26(orf name)|uniprotkb:PSEC0045(orf name)|uniprotkb:UNQ237/PRO270(orf name)|uniprotkb:TMX2(gene name)|psi-mi:TMX2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000213593(gene)|ensembl:ENST00000278422(transcript)|go:"GO:0005739"(mitochondrion)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0007420"(brain development)|go:"GO:0015036"(disulfide oxidoreductase activity)|go:"GO:0016021"(integral component of membrane)|go:"GO:0031966"(mitochondrial membrane)|go:"GO:0042802"(identical protein binding)|go:"GO:0043227"(membrane-bounded organelle)|go:"GO:0044233"(mitochondria-associated endoplasmic reticulum membrane)|interpro:IPR013766(Thioredoxin domain)|interpro:IPR036249|interpro:IPR037463|interpro:IPR039101|mint:Q9Y320|rcsb pdb:2DJ0|refseq:NP_001137484.1|refseq:NP_057043.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5YbR806GhogQ2yI3r9uo8i97MzY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6DN03 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11323172|uniprotkb:B7Z677 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2b2c_human(display_long)|uniprotkb:H2BC20P(gene name)|psi-mi:H2BC20P(display_short)|uniprotkb:H2B-clustered histone 20 pseudogene(gene name synonym)|uniprotkb:HIST2H2BC(gene name synonym)|uniprotkb:Histone H2B.t(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR000558(Histone H2B)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0046982"(protein heterodimerization activity) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:51/l9Pv4W16QggIuJhYE57ne+Bg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11940 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-81531|intact:EBI-28983164|ensembl:ENSP00000313007|ensembl:ENSP00000428749|ensembl:ENSP00000428840|ensembl:ENSP00000429119|ensembl:ENSP00000429790|ensembl:ENSP00000429892|ensembl:ENSP00000430012|uniprotkb:Q15097|uniprotkb:Q93004 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pabp1_human(display_long)|uniprotkb:PABPC1(gene name)|psi-mi:PABPC1(display_short)|uniprotkb:PAB1(gene name synonym)|uniprotkb:PABP1(gene name synonym)|uniprotkb:PABPC2(gene name synonym)|uniprotkb:PABP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR006515(Polyadenylate binding protein, human types 1, 2, 3, 4)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979|interpro:IPR036053|mint:P11940|rcsb pdb:1CVJ|rcsb pdb:1G9L|rcsb pdb:1JGN|rcsb pdb:1JH4|rcsb pdb:2K8G|rcsb pdb:2RQG|rcsb pdb:2RQH|rcsb pdb:2X04|rcsb pdb:3KTP|rcsb pdb:3KTR|rcsb pdb:3KUI|rcsb pdb:3KUJ|rcsb pdb:3KUR|rcsb pdb:3KUS|rcsb pdb:3KUT|rcsb pdb:3PKN|interpro:IPR003954(RNA recognition, region 1)|rcsb pdb:3PTH|rcsb pdb:4F02|rcsb pdb:4F25|rcsb pdb:4F26|ensembl:ENSG00000070756(gene)|ensembl:ENST00000318607(transcript)|ensembl:ENST00000520142(transcript)|ensembl:ENST00000520804(transcript)|ensembl:ENST00000521865(transcript)|ensembl:ENST00000522658(transcript)|ensembl:ENST00000522720(transcript)|ensembl:ENST00000523555(transcript)|go:"GO:0000184"(nuclear-transcribed mRNA catabolic process, nonsense-mediated decay)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0016020"(membrane)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0030027"(lamellipodium)|go:"GO:0005634"(nucleus)|go:"GO:0031047"(gene silencing by RNA)|go:"GO:0031252"(cell leading edge)|go:"GO:0005737"(cytoplasm)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0045070"(positive regulation of viral genome replication)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006378"(mRNA polyadenylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008143"("poly(A) binding")|go:"GO:0048255"(mRNA stabilization)|go:"GO:0008266"("poly(U) RNA binding")|go:"GO:0008494"(translation activator activity)|go:"GO:0060213"("positive regulation of nuclear-transcribed mRNA poly(A) tail shortening")|go:"GO:0070062"(extracellular exosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1900153"(positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000623"(negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR002004(Polyadenylate-binding protein/Hyperplastic disc protein)|rcsb pdb:5DX1|refseq:NP_002559.2|rcsb pdb:5DX8|rcsb pdb:5DXA|rcsb pdb:5LGP|rcsb pdb:5LGQ|rcsb pdb:5LGR|rcsb pdb:5LGS|reactome:R-HSA-156827|reactome:R-HSA-429947|reactome:R-HSA-450408|reactome:R-HSA-72649|reactome:R-HSA-9010553|reactome:R-HSA-975956|reactome:R-HSA-975957|ensembl:ENSP00000313007|ensembl:ENSP00000430012|ensembl:ENSP00000428749|ensembl:ENSP00000429119|ensembl:ENSP00000428840|ensembl:ENSP00000429790|ensembl:ENSP00000429892|refseq:XP_005250918.1|dip:DIP-31613N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XudTSPq2h9ckKAc48X88RVafPRU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11717 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1048580|uniprotkb:Q7Z7G9|uniprotkb:Q96PT5|ensembl:ENSP00000349437 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mpri_human(display_long)|uniprotkb:Insulin-like growth factor 2 receptor(gene name synonym)|uniprotkb:Insulin-like growth factor II receptor(gene name synonym)|uniprotkb:M6P/IGF2 receptor(gene name synonym)|uniprotkb:300 kDa mannose 6-phosphate receptor(gene name synonym)|uniprotkb:IGF2R(gene name)|psi-mi:IGF2R(display_short)|uniprotkb:MPRI(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000867.2|go:"GO:0001965"(G-protein alpha-subunit binding)|go:"GO:0001972"(retinoic acid binding)|go:"GO:0005010"(insulin-like growth factor-activated receptor activity)|go:"GO:0005520"(insulin-like growth factor binding)|go:"GO:0005537"(mannose binding)|go:"GO:0005641"(nuclear envelope lumen)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005770"(late endosome)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006898"(receptor-mediated endocytosis)|ensembl:ENSG00000197081(gene)|go:"GO:0007041"(lysosomal transport)|go:"GO:0007165"(signal transduction)|ensembl:ENST00000356956(transcript)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0001889"(liver development)|go:"GO:0007283"(spermatogenesis)|go:"GO:0009791"(post-embryonic development)|go:"GO:0009986"(cell surface)|go:"GO:0010008"(endosome membrane)|go:"GO:0016020"(membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0030118"(clathrin coat)|go:"GO:0030133"(transport vesicle)|go:"GO:0030139"(endocytic vesicle)|go:"GO:0030140"(trans-Golgi network transport vesicle)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0031100"(animal organ regeneration)|go:"GO:0031995"(insulin-like growth factor II binding)|go:"GO:0032526"(response to retinoic acid)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0044794"(positive regulation by host of viral process)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051219"(phosphoprotein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904772"(response to tetrachloromethane)|go:"GO:1905394"(retromer complex binding)|interpro:IPR000479(Cation-independent mannose-6-phosphate receptor)|interpro:IPR000562(Type II fibronectin, collagen-binding)|interpro:IPR009011(Mannose-6-phosphate receptor, binding)|interpro:IPR013806(Kringle-like fold)|interpro:IPR036943|interpro:IPR044865|mint:P11717|rcsb pdb:1E6F|rcsb pdb:1GP0|rcsb pdb:1GP3|rcsb pdb:1GQB|rcsb pdb:1JPL|rcsb pdb:1JWG|rcsb pdb:1LF8|rcsb pdb:2CNJ|rcsb pdb:2L29|rcsb pdb:2L2A|rcsb pdb:2M68|rcsb pdb:2M6T|rcsb pdb:2V5N|rcsb pdb:2V5O|rcsb pdb:2V5P|rcsb pdb:5IEI|rcsb pdb:6N5X|rcsb pdb:6N5Y|rcsb pdb:6P8I|rcsb pdb:6V02|rcsb pdb:6Z30|rcsb pdb:6Z31|rcsb pdb:6Z32|reactome:R-HSA-432722|reactome:R-HSA-6798695|reactome:R-HSA-6811440|reactome:R-HSA-8856825|reactome:R-HSA-8856828|dip:DIP-6027N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7lkG6WR8MQ/SONiTV/8g1ZTtKTU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11388 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-539628|uniprotkb:Q9HB26|uniprotkb:Q71UN1|uniprotkb:Q71UQ5|uniprotkb:Q9HB24|uniprotkb:Q9HB25|uniprotkb:Q9UP44|uniprotkb:Q9UQP9|uniprotkb:B2RTS1|intact:EBI-2556496|ensembl:ENSP00000411532 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:top2a_human(display_long)|uniprotkb:DNA topoisomerase II, alpha isozyme(gene name synonym)|uniprotkb:TOP2A(gene name)|psi-mi:TOP2A(display_short)|uniprotkb:TOP2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001058.2|ensembl:ENSG00000131747(gene)|ensembl:ENST00000423485(transcript)|go:"GO:0000287"(magnesium ion binding)|go:"GO:0000712"(resolution of meiotic recombination intermediates)|go:"GO:0000775"(chromosome, centromeric region)|go:"GO:0000793"(condensed chromosome)|go:"GO:0000819"(sister chromatid segregation)|go:"GO:0002244"(hematopoietic progenitor cell differentiation)|go:"GO:0003677"(DNA binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003918"("DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity")|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0048511"(rhythmic process)|go:"GO:1905463"(negative regulation of DNA duplex unwinding)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001241(DNA topoisomerase, type IIA, subunit B or N-terminal)|interpro:IPR002205(DNA topoisomerase, type IIA, subunit A or C-terminal)|interpro:IPR003594(ATP-binding region, ATPase-like)|interpro:IPR006171(TOPRIM)|interpro:IPR012542(DTHCT)|interpro:IPR013506(DNA topoisomerase, type IIA, subunit B, region 2)|interpro:IPR013758(DNA topoisomerase, type IIA, subunit A or C-terminal, alpha-beta)|interpro:IPR013759(DNA topoisomerase, type IIA, subunit B or N-terminal, alpha-beta)|interpro:IPR013760(DNA topoisomerase, type IIA, central)|interpro:IPR014721(Ribosomal protein S5 domain 2-type fold)|interpro:IPR018522|interpro:IPR020568|interpro:IPR031660|interpro:IPR034157|interpro:IPR036890|mint:P11388|rcsb pdb:1LWZ|rcsb pdb:1ZXM|rcsb pdb:4FM9|rcsb pdb:4R1F|rcsb pdb:5GWK|rcsb pdb:5NNE|rcsb pdb:6ZY5|rcsb pdb:6ZY6|rcsb pdb:6ZY7|rcsb pdb:6ZY8|reactome:R-HSA-1362277|reactome:R-HSA-4615885|rcsb pdb:1ZXN|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0006265"(DNA topological change)|go:"GO:0006266"(DNA ligation)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0007059"(chromosome segregation)|go:"GO:0007143"(female meiotic nuclear division)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008094"(ATP-dependent activity, acting on DNA)|go:"GO:0008301"(DNA binding, bending)|go:"GO:0009330"("DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) complex")|go:"GO:0019899"(enzyme binding)|go:"GO:0030263"(apoptotic chromosome condensation)|go:"GO:0032991"(protein-containing complex)|go:"GO:0040016"(embryonic cleavage)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043130"(ubiquitin binding)|go:"GO:0045870"(positive regulation of single stranded viral RNA replication via double stranded DNA intermediate)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|dip:DIP-33887N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:WFhFsTLF3XG/CVgT4+TBNCovXiM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11387 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-876302|ensembl:ENSP00000354522|uniprotkb:Q15610|uniprotkb:Q5TFY3|uniprotkb:Q9UJN0|uniprotkb:O43256|uniprotkb:Q12855|uniprotkb:Q12856|uniprotkb:A8KA78|uniprotkb:E1P5W3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:top1_human(display_long)|uniprotkb:DNA topoisomerase I(gene name synonym)|uniprotkb:TOP1(gene name)|psi-mi:TOP1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000198900(gene)|ensembl:ENST00000361337(transcript)|go:"GO:0000932"(P-body)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0001650"(fibrillar center)|go:"GO:0003677"(DNA binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003690"(double-stranded DNA binding)|go:"GO:0003697"(single-stranded DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003917"("DNA topoisomerase type I (single strand cut, ATP-independent) activity")|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0006260"(DNA replication)|go:"GO:0006265"(DNA topological change)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0007059"(chromosome segregation)|go:"GO:0007623"(circadian rhythm)|go:"GO:0012501"(programmed cell death)|go:"GO:0016310"(phosphorylation)|go:"GO:0018105"(peptidyl-serine phosphorylation)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0032922"(circadian regulation of gene expression)|refseq:NP_003277.1|dip:DIP-36356N|go:"GO:0032993"(protein-DNA complex)|go:"GO:0040016"(embryonic cleavage)|go:"GO:0042493"|go:"GO:0043204"(perikaryon)|go:"GO:0097100"(supercoiled DNA binding)|interpro:IPR001631(DNA topoisomerase I, C-terminal)|interpro:IPR008336(DNA topoisomerase I, DNA binding, eukaryotic-type)|interpro:IPR011010(DNA breaking-rejoining enzyme, catalytic core)|interpro:IPR013030(DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type)|interpro:IPR013034(DNA topoisomerase I, DNA binding, alpha helical motif, eukaryotic-type)|interpro:IPR013499(DNA topoisomerase I, C-terminal, eukaryotic-type)|interpro:IPR013500(DNA topoisomerase I, catalytic core, eukaryotic-type)|interpro:IPR014711(DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type)|interpro:IPR014727(DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type)|interpro:IPR018521|interpro:IPR025834|interpro:IPR036202|mint:P11387|rcsb pdb:1A31|rcsb pdb:1A35|rcsb pdb:1A36|rcsb pdb:1EJ9|rcsb pdb:1K4S|rcsb pdb:1K4T|rcsb pdb:1LPQ|rcsb pdb:1NH3|rcsb pdb:1R49|rcsb pdb:1RR8|rcsb pdb:1RRJ|rcsb pdb:1SC7|rcsb pdb:1SEU|rcsb pdb:1T8I|rcsb pdb:1TL8|reactome:R-HSA-4615885 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kB+3PVybgNp2mtOmDa7x8sygFuU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11166 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-717153|uniprotkb:A8K9S6|uniprotkb:O75535|uniprotkb:Q147X2|uniprotkb:B2R620|uniprotkb:D3DPX0|uniprotkb:Q0P512|ensembl:ENSP00000416293 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gtr1_human(display_long)|uniprotkb:Glucose transporter type 1, erythrocyte/brain(gene name synonym)|uniprotkb:HepG2 glucose transporter(gene name synonym)|uniprotkb:SLC2A1(gene name)|psi-mi:SLC2A1(display_short)|uniprotkb:GLUT1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006507.2|ensembl:ENSG00000117394(gene)|ensembl:ENST00000426263(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001666"(response to hypoxia)|go:"GO:0001917"(photoreceptor inner segment)|go:"GO:0001939"(female pronucleus)|go:"GO:0005324"(long-chain fatty acid transporter activity)|go:"GO:0005355"(glucose transmembrane transporter activity)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005901"(caveola)|go:"GO:0007417"(central nervous system development)|go:"GO:0007565"(female pregnancy)|go:"GO:0014704"(intercalated disc)|go:"GO:0015911"(long-chain fatty acid import across plasma membrane)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0019852"(L-ascorbic acid metabolic process)|go:"GO:0019900"(kinase binding)|go:"GO:0021987"(cerebral cortex development)|go:"GO:0030018"(Z disc)|go:"GO:0030496"(midbody)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0032868"(response to insulin)|go:"GO:0033300"(dehydroascorbic acid transmembrane transporter activity)|go:"GO:0042149"(cellular response to glucose starvation)|go:"GO:0042383"(sarcolemma)|go:"GO:0042470"(melanosome)|go:"GO:0042802"(identical protein binding)|go:"GO:0042910"(xenobiotic transmembrane transporter activity)|go:"GO:0043621"(protein self-association)|go:"GO:0045494"(photoreceptor cell maintenance)|go:"GO:0055056"(D-glucose transmembrane transporter activity)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071474"(cellular hyperosmotic response)|go:"GO:0072562"(blood microparticle)|go:"GO:0098708"(glucose import across plasma membrane)|go:"GO:0098793"(presynapse)|go:"GO:0150104"(transport across blood-brain barrier)|go:"GO:1904016"(response to Thyroglobulin triiodothyronine)|go:"GO:1904659"(glucose transmembrane transport)|interpro:IPR002439("Glucose transporter, type 1 (GLUT1)")|interpro:IPR003663(Sugar transporter)|interpro:IPR005828(General substrate transporter)|interpro:IPR005829(Sugar transporter, conserved site)|interpro:IPR020846|interpro:IPR036259|mint:P11166|rcsb pdb:1SUK|rcsb pdb:4PYP|rcsb pdb:5EQG|rcsb pdb:5EQH|rcsb pdb:5EQI|rcsb pdb:6THA|reactome:R-HSA-189200|reactome:R-HSA-196836|reactome:R-HSA-422356|reactome:R-HSA-5619043|reactome:R-HSA-5653890|dip:DIP-23N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:72DLUG1CFkqcf92goIZBZ4+zuls9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11142 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351896|uniprotkb:Q9H3R6|ensembl:ENSP00000227378|ensembl:ENSP00000432083|ensembl:ENSP00000437125 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hsp7c_human(display_long)|uniprotkb:HSPA8(gene name)|psi-mi:HSPA8(display_short)|uniprotkb:HSC70(gene name synonym)|uniprotkb:HSP73(gene name synonym)|uniprotkb:HSPA10(gene name synonym)|uniprotkb:Heat shock 70 kDa protein 8(gene name synonym)|uniprotkb:Lipopolysaccharide-associated protein 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006588.1|refseq:NP_694881.1|refseq:XP_011541100.1|ensembl:ENSG00000109971(gene)|ensembl:ENST00000227378(transcript)|ensembl:ENST00000532636(transcript)|ensembl:ENST00000534624(transcript)|go:"GO:0000974"(Prp19 complex)|go:"GO:0001664"(G protein-coupled receptor binding)|go:"GO:0001786"(phosphatidylserine binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005770"(late endosome)|go:"GO:0005776"(autophagosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006397"(mRNA processing)|go:"GO:0006457"(protein folding)|go:"GO:0006986"(response to unfolded protein)|go:"GO:0008380"(RNA splicing)|go:"GO:0009267"(cellular response to starvation)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0023026"(MHC class II protein complex binding)|go:"GO:0030425"(dendrite)|go:"GO:0030674"(protein-macromolecule adaptor activity)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0031647"(regulation of protein stability)|go:"GO:0034620"(cellular response to unfolded protein)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0042026"(protein refolding)|go:"GO:0042470"(melanosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0043195"(terminal bouton)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043254"(regulation of protein-containing complex assembly)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0044829"(positive regulation by host of viral genome replication)|go:"GO:0045296"(cadherin binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0046034"(ATP metabolic process)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051085"(chaperone cofactor-dependent protein refolding)|go:"GO:0051087"(chaperone binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0051787"(misfolded protein binding)|go:"GO:0055131"(C3HC4-type RING finger domain binding)|go:"GO:0061024"(membrane organization)|go:"GO:0061202"(clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane)|go:"GO:0061635"(regulation of protein complex stability)|go:"GO:0061684"(chaperone-mediated autophagy)|go:"GO:0061738"(late endosomal microautophagy)|go:"GO:0061740"(protein targeting to lysosome involved in chaperone-mediated autophagy)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:0098575"(lumenal side of lysosomal membrane)|go:"GO:0098684"(photoreceptor ribbon synapse)|go:"GO:0098690"(glycinergic synapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099175"(regulation of postsynapse organization)|go:"GO:0099523"(presynaptic cytosol)|go:"GO:0099524"(postsynaptic cytosol)|go:"GO:0099634"(postsynaptic specialization membrane)|go:"GO:0101031"(chaperone complex)|go:"GO:0140545"(protein disaggregase activity)|go:"GO:0140597"(protein carrier chaperone)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1902904"(negative regulation of supramolecular fiber organization)|go:"GO:1904589"(regulation of protein import)|go:"GO:1904764"(chaperone-mediated autophagy translocation complex disassembly)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1990832"(slow axonal transport)|go:"GO:1990833"(clathrin-uncoating ATPase activity)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR013126(Heat shock protein 70)|interpro:IPR018181|interpro:IPR029047|interpro:IPR029048|interpro:IPR043129|mint:P11142|rcsb pdb:3AGY|rcsb pdb:3AGZ|rcsb pdb:3ESK|rcsb pdb:3FZF|rcsb pdb:3FZH|rcsb pdb:3FZK|rcsb pdb:3FZL|rcsb pdb:3FZM|rcsb pdb:3LDQ|rcsb pdb:3M3Z|rcsb pdb:4H5N|rcsb pdb:4H5R|rcsb pdb:4H5T|rcsb pdb:4H5V|rcsb pdb:4H5W|rcsb pdb:4HWI|rcsb pdb:4KBQ|rcsb pdb:5AQF|rcsb pdb:5AQG|rcsb pdb:5AQH|rcsb pdb:5AQI|rcsb pdb:5AQJ|rcsb pdb:5AQK|rcsb pdb:5AQL|rcsb pdb:5AQM|rcsb pdb:5AQN|rcsb pdb:5AQO|rcsb pdb:5AQP|rcsb pdb:5AQQ|rcsb pdb:5AQR|rcsb pdb:5AQS|rcsb pdb:5AQT|rcsb pdb:5AQU|rcsb pdb:5AQV|rcsb pdb:6B1I|rcsb pdb:6B1M|rcsb pdb:6B1N|rcsb pdb:6ZYJ|reactome:R-HSA-3371453|reactome:R-HSA-3371497|reactome:R-HSA-3371568|reactome:R-HSA-3371571|reactome:R-HSA-432720|reactome:R-HSA-432722|reactome:R-HSA-447041|reactome:R-HSA-450408|reactome:R-HSA-6785807|reactome:R-HSA-6798695|reactome:R-HSA-72163|reactome:R-HSA-8856828|reactome:R-HSA-8876725|reactome:R-HSA-888590|reactome:R-HSA-9613354|reactome:R-HSA-9613829|reactome:R-HSA-9615710|dip:DIP-32874N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0I+wYut3naJRzzgmMSax/1mZZwA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11021 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354921|ensembl:ENSP00000324173|uniprotkb:Q2EF78|uniprotkb:Q9NPF1|uniprotkb:Q9UK02|uniprotkb:B0QZ61 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:bip_human(display_long)|uniprotkb:HSPA5(gene name)|psi-mi:HSPA5(display_short)|uniprotkb:GRP78(gene name synonym)|uniprotkb:Immunoglobulin heavy chain-binding protein(gene name synonym)|uniprotkb:78 kDa glucose-regulated protein(gene name synonym)|uniprotkb:Binding-immunoglobulin protein(gene name synonym)|uniprotkb:Heat shock protein 70 family protein 5(gene name synonym)|uniprotkb:Heat shock protein family A member 5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000044574(gene)|ensembl:ENST00000324460(transcript)|go:"GO:0001554"(luteolysis)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006983"(ER overload response)|refseq:NP_005338.1|go:"GO:0009986"(cell surface)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0016020"(membrane)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0021589"(cerebellum structural organization)|go:"GO:0021680"(cerebellar Purkinje cell layer development)|go:"GO:0021762"(substantia nigra development)|go:"GO:0030176"(integral component of endoplasmic reticulum membrane)|go:"GO:0030182"(neuron differentiation)|go:"GO:0030433"(ubiquitin-dependent ERAD pathway)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030496"(midbody)|go:"GO:0030512"(negative regulation of transforming growth factor beta receptor signaling pathway)|go:"GO:0030968"(endoplasmic reticulum unfolded protein response)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0031204"(posttranslational protein targeting to membrane, translocation)|go:"GO:0031333"(negative regulation of protein-containing complex assembly)|go:"GO:0031398"(positive regulation of protein ubiquitination)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034620"(cellular response to unfolded protein)|go:"GO:0034663"(endoplasmic reticulum chaperone complex)|go:"GO:0034975"(protein folding in endoplasmic reticulum)|go:"GO:0035437"(maintenance of protein localization in endoplasmic reticulum)|go:"GO:0035690"|go:"GO:0042026"(protein refolding)|go:"GO:0042149"(cellular response to glucose starvation)|go:"GO:0042220"(response to cocaine)|go:"GO:0042470"(melanosome)|go:"GO:0043022"(ribosome binding)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0045296"(cadherin binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051085"(chaperone cofactor-dependent protein refolding)|go:"GO:0051087"(chaperone binding)|go:"GO:0051402"(neuron apoptotic process)|go:"GO:0051787"(misfolded protein binding)|go:"GO:0060904"(regulation of protein folding in endoplasmic reticulum)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071236"(cellular response to antibiotic)|go:"GO:0071277"(cellular response to calcium ion)|go:"GO:0071287"(cellular response to manganese ion)|go:"GO:0071320"(cellular response to cAMP)|go:"GO:0071353"(cellular response to interleukin-4)|go:"GO:0071480"(cellular response to gamma radiation)|go:"GO:0097501"(stress response to metal ion)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1901998"(toxin transport)|go:"GO:1903891"(regulation of ATF6-mediated unfolded protein response)|go:"GO:1903894"(regulation of IRE1-mediated unfolded protein response)|go:"GO:1903895"(negative regulation of IRE1-mediated unfolded protein response)|go:"GO:1903897"(regulation of PERK-mediated unfolded protein response)|go:"GO:1904313"(response to methamphetamine hydrochloride)|go:"GO:1990090"(cellular response to nerve growth factor stimulus)|go:"GO:1990440"(positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress)|interpro:IPR013126(Heat shock protein 70)|interpro:IPR018181|interpro:IPR029047|interpro:IPR029048|interpro:IPR042050|interpro:IPR043129|mint:P11021|rcsb pdb:3IUC|rcsb pdb:3LDL|rcsb pdb:3LDN|rcsb pdb:3LDO|rcsb pdb:3LDP|rcsb pdb:5E84|rcsb pdb:5E85|rcsb pdb:5E86|rcsb pdb:5EVZ|rcsb pdb:5EX5|rcsb pdb:5EXW|rcsb pdb:5EY4|rcsb pdb:5F0X|rcsb pdb:5F1X|rcsb pdb:5F2R|rcsb pdb:6ASY|rcsb pdb:6CZ1|rcsb pdb:6DFM|rcsb pdb:6DFO|rcsb pdb:6DO2|rcsb pdb:6DWS|rcsb pdb:6ZMD|reactome:R-HSA-114608|reactome:R-HSA-3371453|reactome:R-HSA-381033|reactome:R-HSA-381042|reactome:R-HSA-381070|reactome:R-HSA-381183|reactome:R-HSA-983170|dip:DIP-33189N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:O8nTjCciNhD3QsbZmbolQ1IIMn49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P10620 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2691601|uniprotkb:A8K533|uniprotkb:G5EA53|ensembl:ENSP00000010404|ensembl:ENSP00000379510|ensembl:ENSP00000379512|ensembl:ENSP00000379513 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mgst1_human(display_long)|uniprotkb:GST12(gene name synonym)|uniprotkb:MGST(gene name synonym)|uniprotkb:Microsomal GST-I(gene name synonym)|uniprotkb:MGST1(gene name)|psi-mi:MGST1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001254527.1|refseq:NP_064696.1|refseq:NP_665707.1|refseq:NP_665734.1|refseq:NP_665735.1|refseq:NP_001247440.1|refseq:NP_001247441.1|ensembl:ENSG00000008394(gene)|ensembl:ENST00000010404(transcript)|ensembl:ENST00000396207(transcript)|ensembl:ENST00000396209(transcript)|ensembl:ENST00000396210(transcript)|go:"GO:0004602"(glutathione peroxidase activity)|go:"GO:0005634"(nucleus)|go:"GO:0004364"(glutathione transferase activity)|go:"GO:0005739"(mitochondrion)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005778"(peroxisomal membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0010243"(response to organonitrogen compound)|go:"GO:0016021"(integral component of membrane)|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0033327"(Leydig cell differentiation)|go:"GO:0034635"(glutathione transport)|go:"GO:0035577"(azurophil granule membrane)|go:"GO:0042493"|go:"GO:0042802"(identical protein binding)|go:"GO:0043295"(glutathione binding)|go:"GO:0045177"(apical part of cell)|go:"GO:0071449"(cellular response to lipid hydroperoxide)|interpro:IPR001129("Membrane-associated, eicosanoid and glutathione metabolism (MAPEG)")|interpro:IPR023352|interpro:IPR040162|mint:P10620|reactome:R-HSA-156590|reactome:R-HSA-5423646|reactome:R-HSA-6798695 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:EOC392MXLPaZqBiK4WdkHwRVjoA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P10619 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-989654|uniprotkb:Q9BW68|uniprotkb:Q561W6|uniprotkb:Q5JZH1|uniprotkb:Q96KJ2|uniprotkb:Q9BR08|ensembl:ENSP00000361537|ensembl:ENSP00000475524|ensembl:ENSP00000493613|ensembl:ENSP00000191018|uniprotkb:B2R798 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ppgb_human(display_long)|uniprotkb:Cathepsin A(gene name synonym)|uniprotkb:Carboxypeptidase C(gene name synonym)|uniprotkb:Protective protein for beta-galactosidase(gene name synonym)|uniprotkb:CTSA(gene name)|psi-mi:CTSA(display_short)|uniprotkb:PPGB(gene name synonym)|uniprotkb:Carboxypeptidase L(gene name synonym)|uniprotkb:Protective protein cathepsin A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000064601(gene)|interpro:IPR001563(Peptidase S10, serine carboxypeptidase)|interpro:IPR018202|interpro:IPR029058|interpro:IPR033124|rcsb pdb:1IVY|rcsb pdb:3BP4|rcsb pdb:3BP7|rcsb pdb:3BXN|rcsb pdb:4AZ0|rcsb pdb:4AZ3|rcsb pdb:4CI9|rcsb pdb:4CIA|rcsb pdb:4CIB|rcsb pdb:4MWS|rcsb pdb:4MWT|rcsb pdb:6WIA|reactome:R-HSA-1660662|reactome:R-HSA-2132295|reactome:R-HSA-4085001|reactome:R-HSA-4341670|reactome:R-HSA-6798695|ensembl:ENST00000191018(transcript)|ensembl:ENST00000372459(transcript)|ensembl:ENST00000607482(transcript)|ensembl:ENST00000646241(transcript)|go:"GO:0004180"(carboxypeptidase activity)|go:"GO:0004185"(serine-type carboxypeptidase activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0006508"(proteolysis)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0008047"(enzyme activator activity)|go:"GO:0016020"(membrane)|go:"GO:0031647"(regulation of protein stability)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904714"(regulation of chaperone-mediated autophagy)|go:"GO:1904715"(negative regulation of chaperone-mediated autophagy)|refseq:NP_000299.2|refseq:NP_001161066.1|refseq:NP_001121167.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:l/CZaKjZTuZu1ROoJJZVsxobYrQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P10321 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1051396|uniprotkb:O78067|uniprotkb:O78072|uniprotkb:O78090|uniprotkb:O78149|uniprotkb:Q29921|uniprotkb:Q9UM42|intact:EBI-13916949|uniprotkb:O02863|intact:EBI-6163576|intact:EBI-4400689|intact:EBI-6163558|uniprotkb:O02864|uniprotkb:O02865|uniprotkb:O02866|uniprotkb:O02958|uniprotkb:O19505|uniprotkb:O19652|uniprotkb:O19676|uniprotkb:O62879|uniprotkb:O62882|uniprotkb:O62883|uniprotkb:O62888|uniprotkb:O78060|uniprotkb:O78061|uniprotkb:O78062|uniprotkb:O78063|uniprotkb:O78068|uniprotkb:O78069|uniprotkb:O78083|uniprotkb:O78091|uniprotkb:O78165|uniprotkb:O78166|uniprotkb:O78178|uniprotkb:O78202|uniprotkb:O78203|uniprotkb:O78211|uniprotkb:O78214|uniprotkb:P04222|uniprotkb:P30499|uniprotkb:P30500|uniprotkb:P30501|uniprotkb:P30502|uniprotkb:P30503|uniprotkb:P30504|uniprotkb:P30505|uniprotkb:P30506|uniprotkb:P30507|uniprotkb:P30508|uniprotkb:P30509|uniprotkb:P30510|uniprotkb:P79498|uniprotkb:Q07000|uniprotkb:Q29631|uniprotkb:Q29641|uniprotkb:Q29643|uniprotkb:Q29652|uniprotkb:Q29743|uniprotkb:Q29768|uniprotkb:Q29862|uniprotkb:Q29864|uniprotkb:Q29865|uniprotkb:Q29867|uniprotkb:Q29959|uniprotkb:Q29960|uniprotkb:Q29963|uniprotkb:Q29986|uniprotkb:Q29989|uniprotkb:Q9MY74|uniprotkb:Q9MYI3|uniprotkb:Q9TNN7|uniprotkb:Q9TNZ8|uniprotkb:Q9TPS4|uniprotkb:Q9TPV8|uniprotkb:Q9TPX2|uniprotkb:Q9TQB4|uniprotkb:Q9TQJ5|uniprotkb:Q9TQP9|uniprotkb:Q9UM32|uniprotkb:Q9UM33|uniprotkb:Q9UQS9|uniprotkb:Q29990|uniprotkb:Q29991|uniprotkb:Q29992|uniprotkb:Q29993|uniprotkb:Q30192|uniprotkb:Q31605|uniprotkb:Q31627|uniprotkb:Q9GJ33|uniprotkb:Q9MY30|uniprotkb:Q860R1|uniprotkb:Q860R2|uniprotkb:Q95463|uniprotkb:Q95603|uniprotkb:Q95604|uniprotkb:Q99528|uniprotkb:Q9BD28|uniprotkb:Q9GIK4|uniprotkb:Q9GIK8|intact:EBI-9978491|intact:EBI-3905378|intact:EBI-6163573|intact:EBI-1058803|intact:EBI-13917304|uniprotkb:Q9MY31|uniprotkb:Q9MY35|uniprotkb:Q9MY49|ensembl:ENSP00000365402 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hlac_human(display_long)|uniprotkb:HLA-Cw(gene name synonym)|uniprotkb:Human leukocyte antigen C(gene name synonym)|uniprotkb:HLAC(gene name synonym)|uniprotkb:HLA-C(gene name)|psi-mi:HLA-C(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002108.4|ensembl:ENSG00000204525(gene)|ensembl:ENST00000376228(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0002250"(adaptive immune response)|go:"GO:0002486"(antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006955"(immune response)|go:"GO:0009986"(cell surface)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0016020"(membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0042605"(peptide antigen binding)|go:"GO:0042612"(MHC class I protein complex)|go:"GO:0045087"(innate immune response)|go:"GO:0046977"(TAP binding)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071556"(integral component of lumenal side of endoplasmic reticulum membrane)|interpro:IPR001039(MHC class I, alpha chain, alpha1 and alpha2)|interpro:IPR003597(Immunoglobulin C1-set)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR010579(MHC class I, alpha chain, C-terminal)|interpro:IPR011161(MHC class I-like antigen recognition)|interpro:IPR011162(MHC classes I and II-like antigen recognition)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR037055|mint:P10321|rcsb pdb:1EFX|rcsb pdb:1IM9|rcsb pdb:1QQD|rcsb pdb:3BZF|rcsb pdb:4NT6|rcsb pdb:5VGD|rcsb pdb:5VGE|rcsb pdb:5W67|rcsb pdb:5W69|rcsb pdb:5W6A|rcsb pdb:6JTO|rcsb pdb:6PA1|rcsb pdb:6PAG|reactome:R-HSA-1236974|reactome:R-HSA-1236977|reactome:R-HSA-198933|reactome:R-HSA-2172127|reactome:R-HSA-6798695|reactome:R-HSA-877300|reactome:R-HSA-909733|reactome:R-HSA-983170 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VYYWt9SpNZEuu0jZkdCHEe65lAE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62158 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-397435|uniprotkb:P02593|uniprotkb:P70667|uniprotkb:P99014|uniprotkb:Q13942|uniprotkb:Q53S29|uniprotkb:Q61379|uniprotkb:Q61380|uniprotkb:Q96HK3|uniprotkb:P0DP25|uniprotkb:P0DP24|uniprotkb:P0DP23 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:calm_human(display_long)|uniprotkb:CALM1(gene name)|psi-mi:CALM1(display_short)|uniprotkb:CALM(gene name synonym)|uniprotkb:CAM(gene name synonym)|uniprotkb:CAM1(gene name synonym)|uniprotkb:CALM2(gene name)|psi-mi:CALM2(display_short)|uniprotkb:CAMB(gene name synonym)|uniprotkb:CALM3(gene name)|psi-mi:CALM3(display_short)|uniprotkb:CAM3(gene name synonym)|uniprotkb:CAMC(gene name synonym)|uniprotkb:CAMIII(gene name synonym)|uniprotkb:CAM2(gene name synonym)|uniprotkb:CALML2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:3SUI|rcsb pdb:2LGF|rcsb pdb:2LQC|rcsb pdb:2LQP|rcsb pdb:2Y4V|rcsb pdb:4JQ0|rcsb pdb:4LZX|rcsb pdb:4M1L|go:"GO:0010800"(positive regulation of peptidyl-threonine phosphorylation)|rcsb pdb:3J41|rcsb pdb:2LL6|go:"GO:0002027"(regulation of heart rate)|go:"GO:0005513"(detection of calcium ion)|go:"GO:0010881"(regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion)|go:"GO:0030017"(sarcomere)|go:"GO:0030801"(obsolete positive regulation of cyclic nucleotide metabolic process)|go:"GO:0032516"(positive regulation of phosphoprotein phosphatase activity)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0051343"(positive regulation of cyclic-nucleotide phosphodiesterase activity)|go:"GO:0072542"(protein phosphatase activator activity)|go:"GO:1901844"(regulation of cell communication by electrical coupling involved in cardiac conduction)|rcsb pdb:2LV6|rcsb pdb:2N6A|refseq:NP_001734.1|refseq:NP_005175.2|refseq:NP_008819.1|interpro:IPR011992(EF-Hand type)|interpro:IPR018247|interpro:IPR002048(Calcium-binding EF-hand)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0005876"(spindle microtubule)|go:"GO:0000922"(spindle pole)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005980"(glycogen catabolic process)|go:"GO:0006936"(muscle contraction)|go:"GO:0060315"(negative regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0002576"(platelet degranulation)|go:"GO:0060316"(positive regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0032465"(regulation of cytokinesis)|go:"GO:0050999"(regulation of nitric-oxide synthase activity)|rcsb pdb:1AJI|rcsb pdb:1CDL|rcsb pdb:1CLL|rcsb pdb:1CTR|rcsb pdb:1IWQ|rcsb pdb:1J7O|rcsb pdb:1J7P|rcsb pdb:1K90|rcsb pdb:1K93|rcsb pdb:1L7Z|rcsb pdb:1LVC|rcsb pdb:1NKF|rcsb pdb:1PK0|rcsb pdb:1S26|rcsb pdb:1SK6|rcsb pdb:1SW8|rcsb pdb:1WRZ|rcsb pdb:1XFU|rcsb pdb:1XFV|rcsb pdb:1XFW|rcsb pdb:1XFX|rcsb pdb:1XFY|rcsb pdb:1XFZ|rcsb pdb:1Y6W|rcsb pdb:1YR5|rcsb pdb:1YRT|rcsb pdb:1YRU|rcsb pdb:1ZOT|rcsb pdb:1ZUZ|rcsb pdb:2BE6|rcsb pdb:2F3Y|rcsb pdb:2F3Z|rcsb pdb:2HF5|rcsb pdb:2I08|rcsb pdb:2JZI|rcsb pdb:2K0E|rcsb pdb:2K0F|rcsb pdb:2K0J|rcsb pdb:2K61|rcsb pdb:2KNE|rcsb pdb:2KUG|rcsb pdb:2KUH|rcsb pdb:2L53|rcsb pdb:2L7L|rcsb pdb:2R28|rcsb pdb:2V01|rcsb pdb:2V02|rcsb pdb:2VAY|rcsb pdb:2W73|rcsb pdb:2WEL|rcsb pdb:2X0G|rcsb pdb:3BYA|rcsb pdb:3DVE|rcsb pdb:3DVJ|rcsb pdb:3DVK|rcsb pdb:3DVM|rcsb pdb:3EWT|rcsb pdb:3EWV|rcsb pdb:3G43|rcsb pdb:3HR4|rcsb pdb:3O77|rcsb pdb:3O78|rcsb pdb:3OXQ|rcsb pdb:3UCT|rcsb pdb:3UCW|rcsb pdb:3UCY|rcsb pdb:4DCK|go:"GO:0010801"(negative regulation of peptidyl-threonine phosphorylation)|go:"GO:0019901"(protein kinase binding)|go:"GO:0031954"(positive regulation of protein autophosphorylation)|go:"GO:0043539"(protein serine/threonine kinase activator activity)|go:"GO:0071902"(positive regulation of protein serine/threonine kinase activity)|go:"GO:0000165"(MAPK cascade)|rcsb pdb:2M0J|rcsb pdb:2M0K|rcsb pdb:4UMO|rcsb pdb:4V0C|go:"GO:0031982"(vesicle)|rcsb pdb:4Q5U|rcsb pdb:4UPU|reactome:R-HSA-2672351|reactome:R-HSA-418359|reactome:R-HSA-425561|reactome:R-HSA-5576892|reactome:R-HSA-5578775|reactome:R-HSA-936837|refseq:NP_001292555.1|rcsb pdb:4OVN|rcsb pdb:5COC|go:"GO:0021762"(substantia nigra development)|go:"GO:0070062"(extracellular exosome)|rcsb pdb:4BW7|rcsb pdb:4BW8|rcsb pdb:4L79|rcsb pdb:5DBR|rcsb pdb:4DJC|rcsb pdb:2M55|rcsb pdb:2LL7|go:"GO:0019855"(calcium channel inhibitor activity)|go:"GO:0001975"(response to amphetamine)|go:"GO:0007190"(activation of adenylate cyclase activity)|go:"GO:0030235"(nitric-oxide synthase regulator activity)|go:"GO:0030426"(growth cone)|go:"GO:0051000"(positive regulation of nitric-oxide synthase activity)|go:"GO:0051412"(response to corticosterone)|go:"GO:1901841"(regulation of high voltage-gated calcium channel activity)|rcsb pdb:2N77|go:"GO:0032991"(protein-containing complex)|go:"GO:0006479"(protein methylation)|go:"GO:0014069"(postsynaptic density)|rcsb pdb:5DSU|reactome:R-HSA-8876725|rcsb pdb:4GOW|rcsb pdb:4Q57|go:"GO:0043647"(inositol phosphate metabolic process)|go:"GO:0022400"(regulation of rhodopsin mediated signaling pathway)|go:"GO:0038095"(Fc-epsilon receptor signaling pathway)|go:"GO:0005576"(extracellular region)|go:"GO:0005737"(cytoplasm)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0010880"(regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031432"(titin binding)|go:"GO:0031996"(thioesterase binding)|go:"GO:0031997"(N-terminal myristoylation domain binding)|go:"GO:0043274"(phospholipase binding)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0051592"(response to calcium ion)|go:"GO:0055117"(regulation of cardiac muscle contraction)|rcsb pdb:2MG5|go:"GO:0005088"|go:"GO:0007223"(Wnt signaling pathway, calcium modulating pathway)|go:"GO:0008440"(inositol-1,4,5-trisphosphate 3-kinase activity)|go:"GO:0015276"(ligand-gated ion channel activity)|go:"GO:0005634"(nucleus)|rcsb pdb:4JPZ|ensembl:ENST00000272298|ensembl:ENST00000291295|ensembl:ENST00000356978|ensembl:ENST00000596362|refseq:NP_001292553.1|refseq:NP_001292554.1|rcsb pdb:4BYF|reactome:R-HSA-111932|reactome:R-HSA-111933|reactome:R-HSA-111957|reactome:R-HSA-111997|reactome:R-HSA-114608|reactome:R-HSA-1445148|reactome:R-HSA-1474151|reactome:R-HSA-180024|reactome:R-HSA-1855204|reactome:R-HSA-203615|reactome:R-HSA-2514859|reactome:R-HSA-2871809|reactome:R-HSA-4086398|reactome:R-HSA-442717|reactome:R-HSA-442729|reactome:R-HSA-442745|reactome:R-HSA-442982|reactome:R-HSA-445355|reactome:R-HSA-451308|reactome:R-HSA-5218920|reactome:R-HSA-5218921|reactome:R-HSA-5607763|reactome:R-HSA-5626467|reactome:R-HSA-5627123|reactome:R-HSA-5673001|reactome:R-HSA-70221|reactome:R-HSA-983695|ensembl:ENSG00000143933|ensembl:ENSG00000160014|ensembl:ENSG00000198668|ensembl:ENSP00000272298|ensembl:ENSP00000291295|ensembl:ENSP00000349467|ensembl:ENSP00000472141|rcsb pdb:5NIN|rcsb pdb:5VMS|rcsb pdb:5WSU|rcsb pdb:5WSV|rcsb pdb:6U39|rcsb pdb:6U3A|rcsb pdb:6U3B|rcsb pdb:6U3D|rcsb pdb:2N8J|rcsb pdb:5GGM|rcsb pdb:5J8H|reactome:R-HSA-163615|reactome:R-HSA-5210891|refseq:NP_001316851.1|refseq:NP_001316852.1|refseq:NP_001316853.1|refseq:NP_001316854.1|refseq:NP_001316855.1|rcsb pdb:2N27|rcsb pdb:5DOW|rcsb pdb:5I0I|rcsb pdb:5J03|rcsb pdb:5K7L|rcsb pdb:5K8Q|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0000086"(G2/M transition of mitotic cell cycle)|go:"GO:0043388"(positive regulation of DNA binding)|dip:DIP-31794N|rcsb pdb:1UP5|rcsb pdb:5JQA|rcsb pdb:5JTH|rcsb pdb:5OEO|rcsb pdb:5TP5|rcsb pdb:5TP6|rcsb pdb:5V02|rcsb pdb:5V03|rcsb pdb:5V7X|rcsb pdb:5WBX|rcsb pdb:5WC5|rcsb pdb:6B8L|rcsb pdb:6B8M|rcsb pdb:6B8N|rcsb pdb:6B8P|rcsb pdb:6B8Q|rcsb pdb:6C1D|rcsb pdb:6C1G|rcsb pdb:6C1H|rcsb pdb:6CNM|rcsb pdb:6CNN|rcsb pdb:6CNO|rcsb pdb:6FEG|rcsb pdb:6FEH|reactome:R-HSA-2025928|reactome:R-HSA-2151201|go:"GO:0034704"(calcium channel complex)|go:"GO:0010856"(adenylate cyclase activator activity)|go:"GO:0051186"(obsolete cofactor metabolic process)|go:"GO:0075206"(obsolete positive regulation by host of symbiont cAMP-mediated signal transduction)|go:"GO:0060314"(regulation of ryanodine-sensitive calcium-release channel activity)|interpro:IPR039030|go:"GO:1902494"(catalytic complex)|go:"GO:0043234"|go:"GO:0008179"(adenylate cyclase binding)|go:"GO:0097718"(disordered domain specific binding)|go:"GO:0030819"(obsolete positive regulation of cAMP biosynthetic process)|rcsb pdb:6BUT|rcsb pdb:6DAD|rcsb pdb:6DAE|rcsb pdb:6DAF|rcsb pdb:6DAH|rcsb pdb:6E2F|rcsb pdb:6E2G|rcsb pdb:6EEB|rcsb pdb:6GDK|rcsb pdb:6GDL|rcsb pdb:6HCS|rcsb pdb:6JI8|rcsb pdb:6JII|rcsb pdb:6JIU|rcsb pdb:6JIY|rcsb pdb:6JRS|rcsb pdb:6JV2|rcsb pdb:6K4K|rcsb pdb:6K4L|rcsb pdb:6K4R|rcsb pdb:6MUD|rcsb pdb:6MUE|rcsb pdb:6N5W|rcsb pdb:6O5G|reactome:R-HSA-438066|reactome:R-HSA-442720|reactome:R-HSA-5673000|reactome:R-HSA-6802946|reactome:R-HSA-6802949|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-9009391|reactome:R-HSA-9022535|reactome:R-HSA-9022692|reactome:R-HSA-9617324|reactome:R-HSA-9619229|reactome:R-HSA-9619483|reactome:R-HSA-9620244|go:"GO:0019722"(calcium-mediated signaling)|rcsb pdb:6PBX|rcsb pdb:6PBY|reactome:R-HSA-9649948|go:"GO:0005623"(obsolete cell)|rcsb pdb:6HR1|rcsb pdb:6OS4|rcsb pdb:6Y4P|rcsb pdb:6Y94|rcsb pdb:6Y95|reactome:R-HSA-9664323|go:"GO:0030234"(enzyme regulator activity)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0016032"(viral process)|rcsb pdb:6M7H|rcsb pdb:6UZZ|rcsb pdb:6V00|rcsb pdb:6V01|rcsb pdb:6PLM|rcsb pdb:6S5T|rcsb pdb:6SZ5|rcsb pdb:6XXF|rcsb pdb:6Y4O intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:tTYcOd9bOh211njZVz7cYVybAMQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P0DP23 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25817233|ensembl:ENSP00000349467|intact:EBI-28973196|uniprotkb:P02593|uniprotkb:P62158|uniprotkb:P70667|uniprotkb:P99014|uniprotkb:Q13942|uniprotkb:Q53S29|uniprotkb:Q61379|uniprotkb:Q61380|uniprotkb:Q96HK3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:calm1_human(display_long)|uniprotkb:CALM1(gene name)|psi-mi:CALM1(display_short)|uniprotkb:CALM(gene name synonym)|uniprotkb:CAM(gene name synonym)|uniprotkb:CAM1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:2I08|rcsb pdb:2JZI|rcsb pdb:2K0E|rcsb pdb:2K0F|rcsb pdb:2K0J|rcsb pdb:2K61|rcsb pdb:2KNE|rcsb pdb:2KUG|rcsb pdb:2KUH|rcsb pdb:2L53|rcsb pdb:2L7L|rcsb pdb:2LGF|rcsb pdb:2LL6|rcsb pdb:2LL7|rcsb pdb:2LQC|rcsb pdb:2LQP|rcsb pdb:2LV6|rcsb pdb:2M0J|rcsb pdb:2M0K|rcsb pdb:2M55|rcsb pdb:2MG5|rcsb pdb:2N27|rcsb pdb:2N6A|rcsb pdb:2N77|rcsb pdb:2N8J|rcsb pdb:2R28|rcsb pdb:2V01|rcsb pdb:2V02|rcsb pdb:2VAY|rcsb pdb:2HF5|rcsb pdb:2W73|rcsb pdb:2WEL|rcsb pdb:2X0G|go:"GO:0098901"(regulation of cardiac muscle cell action potential)|go:"GO:0140056"(organelle localization by membrane tethering)|go:"GO:1900242"(regulation of synaptic vesicle endocytosis)|go:"GO:1901842"(negative regulation of high voltage-gated calcium channel activity)|go:"GO:1901844"(regulation of cell communication by electrical coupling involved in cardiac conduction)|go:"GO:1902494"(catalytic complex)|go:"GO:1905913"(negative regulation of calcium ion export across plasma membrane)|go:"GO:1990456"(mitochondrion-endoplasmic reticulum membrane tethering)|go:"GO:2000300"(regulation of synaptic vesicle exocytosis)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR018247|mint:P0DP23|rcsb pdb:1AJI|rcsb pdb:1CDL|rcsb pdb:1CLL|rcsb pdb:1CTR|rcsb pdb:1IWQ|rcsb pdb:1J7O|rcsb pdb:1J7P|rcsb pdb:1K90|go:"GO:0097718"(disordered domain specific binding)|rcsb pdb:1K93|rcsb pdb:1L7Z|rcsb pdb:1LVC|ensembl:ENSG00000198668(gene)|ensembl:ENST00000356978(transcript)|go:"GO:0000086"(G2/M transition of mitotic cell cycle)|go:"GO:0000922"(spindle pole)|go:"GO:0001975"(response to amphetamine)|go:"GO:0002027"(regulation of heart rate)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005513"(detection of calcium ion)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005876"(spindle microtubule)|go:"GO:0005886"(plasma membrane)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007190"(activation of adenylate cyclase activity)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0008179"(adenylate cyclase binding)|go:"GO:0010800"(positive regulation of peptidyl-threonine phosphorylation)|go:"GO:0010801"(negative regulation of peptidyl-threonine phosphorylation)|go:"GO:0010856"(adenylate cyclase activator activity)|go:"GO:0010880"(regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum)|go:"GO:0010881"(regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion)|go:"GO:0016240"(autophagosome membrane docking)|go:"GO:0019855"(calcium channel inhibitor activity)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0021762"(substantia nigra development)|go:"GO:0030017"(sarcomere)|go:"GO:0030234"(enzyme regulator activity)|go:"GO:0030235"(nitric-oxide synthase regulator activity)|go:"GO:0030426"(growth cone)|go:"GO:0031432"(titin binding)|go:"GO:0031800"(type 3 metabotropic glutamate receptor binding)|go:"GO:0031954"(positive regulation of protein autophosphorylation)|go:"GO:0031966"(mitochondrial membrane)|go:"GO:0031982"(vesicle)|go:"GO:0031997"(N-terminal myristoylation domain binding)|go:"GO:0032465"(regulation of cytokinesis)|go:"GO:0032516"(positive regulation of phosphoprotein phosphatase activity)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034704"(calcium channel complex)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0043209"(myelin sheath)|go:"GO:0043388"(positive regulation of DNA binding)|go:"GO:0043539"(protein serine/threonine kinase activator activity)|go:"GO:0043548"(phosphatidylinositol 3-kinase binding)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0050848"(regulation of calcium-mediated signaling)|go:"GO:0050998"(nitric-oxide synthase binding)|go:"GO:0051000"(positive regulation of nitric-oxide synthase activity)|go:"GO:0051343"(positive regulation of cyclic-nucleotide phosphodiesterase activity)|go:"GO:0051412"(response to corticosterone)|go:"GO:0051592"(response to calcium ion)|go:"GO:0055117"(regulation of cardiac muscle contraction)|go:"GO:0060314"(regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0060315"(negative regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0060316"(positive regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0071902"(positive regulation of protein serine/threonine kinase activity)|go:"GO:0072542"(protein phosphatase activator activity)|go:"GO:0090151"(establishment of protein localization to mitochondrial membrane)|go:"GO:0030672"(synaptic vesicle membrane)|rcsb pdb:1PK0|rcsb pdb:1S26|rcsb pdb:1SK6|rcsb pdb:1SW8|rcsb pdb:1UP5|rcsb pdb:1WRZ|rcsb pdb:1XFU|rcsb pdb:1XFV|rcsb pdb:1XFW|rcsb pdb:1XFX|rcsb pdb:1XFY|rcsb pdb:1XFZ|rcsb pdb:1Y6W|rcsb pdb:1YR5|rcsb pdb:1YRT|rcsb pdb:1YRU|rcsb pdb:1ZOT|rcsb pdb:1ZUZ|rcsb pdb:2BE6|rcsb pdb:1NKF|rcsb pdb:2F3Y|rcsb pdb:2F3Z|rcsb pdb:2Y4V|rcsb pdb:3DVE|rcsb pdb:3DVJ|rcsb pdb:3DVK|rcsb pdb:3DVM|rcsb pdb:3EWT|rcsb pdb:3EWV|rcsb pdb:3G43|rcsb pdb:3HR4|rcsb pdb:3J41|rcsb pdb:3O77|rcsb pdb:3O78|rcsb pdb:3OXQ|rcsb pdb:3SUI|rcsb pdb:3UCT|rcsb pdb:3UCW|rcsb pdb:3UCY|rcsb pdb:4BW7|rcsb pdb:4BW8|rcsb pdb:4BYF|rcsb pdb:4DCK|rcsb pdb:4DJC|rcsb pdb:4GOW|rcsb pdb:4JPZ|rcsb pdb:4JQ0|rcsb pdb:4L79|rcsb pdb:4LZX|rcsb pdb:4M1L|rcsb pdb:4OVN|rcsb pdb:4Q57|rcsb pdb:4Q5U|rcsb pdb:4UMO|rcsb pdb:4UPU|rcsb pdb:4V0C|rcsb pdb:5COC|rcsb pdb:3BYA|rcsb pdb:5DBR|rcsb pdb:5DOW|rcsb pdb:5DSU|rcsb pdb:5GGM|rcsb pdb:5I0I|rcsb pdb:5J03|rcsb pdb:5J8H|rcsb pdb:5JQA|rcsb pdb:5JTH|rcsb pdb:5K7L|rcsb pdb:5K8Q|rcsb pdb:5OEO|rcsb pdb:5TP5|rcsb pdb:5TP6|rcsb pdb:5V02|rcsb pdb:5V03|rcsb pdb:5V7X|rcsb pdb:5WBX|rcsb pdb:5WC5|rcsb pdb:6B8L|rcsb pdb:6B8M|rcsb pdb:6B8N|rcsb pdb:6B8P|rcsb pdb:6B8Q|rcsb pdb:6BUT|rcsb pdb:6C1D|rcsb pdb:6C1G|rcsb pdb:6C1H|rcsb pdb:6CNM|rcsb pdb:6CNN|rcsb pdb:6CNO|rcsb pdb:6DAD|rcsb pdb:6DAE|rcsb pdb:6DAF|rcsb pdb:6DAH|rcsb pdb:6E2F|rcsb pdb:6E2G|rcsb pdb:6EEB|rcsb pdb:6FEG|rcsb pdb:6FEH|rcsb pdb:6GDK|rcsb pdb:6GDL|rcsb pdb:6HCS|rcsb pdb:6HR1|rcsb pdb:6JI8|rcsb pdb:6JII|rcsb pdb:6JIU|rcsb pdb:6JIY|rcsb pdb:6JRS|rcsb pdb:6JV2|rcsb pdb:6K4K|rcsb pdb:6K4L|rcsb pdb:6K4R|rcsb pdb:6M2W|rcsb pdb:6M7H|rcsb pdb:6MUD|rcsb pdb:6MUE|rcsb pdb:6N5W|rcsb pdb:6O5G|rcsb pdb:6OS4|rcsb pdb:6PAW|rcsb pdb:6PBX|rcsb pdb:6PBY|rcsb pdb:6U39|rcsb pdb:6U3A|rcsb pdb:6U3B|rcsb pdb:6U3D|rcsb pdb:6UZZ|rcsb pdb:6V00|rcsb pdb:6V01|rcsb pdb:6X32|rcsb pdb:6X33|rcsb pdb:6X35|rcsb pdb:6X36|rcsb pdb:6XXX|rcsb pdb:6XY3|rcsb pdb:6XYR|rcsb pdb:6Y4P|rcsb pdb:6Y94|rcsb pdb:6Y95|rcsb pdb:6YNS|rcsb pdb:6YNU|rcsb pdb:6ZBI|rcsb pdb:7KL5|reactome:R-HSA-111932|reactome:R-HSA-111933|reactome:R-HSA-111957|reactome:R-HSA-111997|reactome:R-HSA-114608|reactome:R-HSA-1445148|reactome:R-HSA-442982|reactome:R-HSA-445355|reactome:R-HSA-451308|reactome:R-HSA-1474151|reactome:R-HSA-5210891|reactome:R-HSA-5218920|reactome:R-HSA-5218921|reactome:R-HSA-163615|reactome:R-HSA-180024|reactome:R-HSA-5576892|reactome:R-HSA-1855204|reactome:R-HSA-2025928|reactome:R-HSA-5578775|reactome:R-HSA-5607763|reactome:R-HSA-5626467|reactome:R-HSA-5627123|reactome:R-HSA-203615|reactome:R-HSA-2151201|reactome:R-HSA-2514859|reactome:R-HSA-5673000|reactome:R-HSA-2672351|reactome:R-HSA-5673001|reactome:R-HSA-6802946|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-2871809|reactome:R-HSA-4086398|reactome:R-HSA-70221|reactome:R-HSA-8876725|reactome:R-HSA-9009391|reactome:R-HSA-418359|reactome:R-HSA-425561|reactome:R-HSA-438066|reactome:R-HSA-442720|reactome:R-HSA-9022535|reactome:R-HSA-9022692|reactome:R-HSA-936837|reactome:R-HSA-9617324|reactome:R-HSA-9619229|reactome:R-HSA-9619483|reactome:R-HSA-9620244|reactome:R-HSA-9648002|reactome:R-HSA-9649948|reactome:R-HSA-9656223|reactome:R-HSA-9664323|reactome:R-HSA-983695|reactome:R-HSA-442729|refseq:NP_001316851.1|refseq:NP_001734.1|refseq:NP_005175.2|refseq:NP_008819.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:tTYcOd9bOh211njZVz7cYVybAMQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P0CG39 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6151401|ensembl:ENSP00000387176 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:potej_human(display_long)|uniprotkb:POTEJ(gene name)|psi-mi:POTEJ(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001264012.1|ensembl:ENSG00000222038(gene)|ensembl:ENST00000409602(transcript)|go:"GO:0001895"(retina homeostasis)|go:"GO:0005615"(extracellular space)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002110(Ankyrin)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020683|interpro:IPR020902|interpro:IPR036770|interpro:IPR039497|interpro:IPR043129 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:FjaGG32SBA1jpjo0RFJpJ0gAyM89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P0CG38 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6151396|ensembl:ENSP00000392718 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:potei_human(display_long)|uniprotkb:POTEI(gene name)|psi-mi:POTEI(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001264335.1|ensembl:ENSG00000196834(gene)|ensembl:ENST00000451531(transcript)|go:"GO:0001895"(retina homeostasis)|go:"GO:0005615"(extracellular space)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002110(Ankyrin)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020683|interpro:IPR020902|interpro:IPR036770|interpro:IPR039497|interpro:IPR043129 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GwOezw/xl4lBr+foB8APX5SP8qc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P09382 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1048875|uniprotkb:B2R5E8|uniprotkb:Q9UDK5|ensembl:ENSP00000215909 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:leg1_human(display_long)|uniprotkb:Lectin galactoside-binding soluble 1(gene name synonym)|uniprotkb:Beta-galactoside-binding lectin L-14-I(gene name synonym)|uniprotkb:S-Lac lectin 1(gene name synonym)|uniprotkb:Galaptin(gene name synonym)|uniprotkb:14 kDa lectin(gene name synonym)|uniprotkb:HPL(gene name synonym)|uniprotkb:HBL(gene name synonym)|uniprotkb:Putative MAPK-activating protein PM12(gene name synonym)|uniprotkb:LGALS1(gene name)|psi-mi:LGALS1(display_short)|uniprotkb:Lactose-binding lectin 1(gene name synonym)|uniprotkb:14 kDa laminin-binding protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002296.1|ensembl:ENST00000215909(transcript)|go:"GO:0002317"(plasma cell differentiation)|go:"GO:0003723"(RNA binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005829"(cytosol)|go:"GO:0006915"(apoptotic process)|go:"GO:0009986"(cell surface)|go:"GO:0010812"(negative regulation of cell-substrate adhesion)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0030246"(carbohydrate binding)|go:"GO:0030395"(lactose binding)|ensembl:ENSG00000100097(gene)|go:"GO:0071333"(cellular response to glucose stimulus)|go:"GO:0071407"(cellular response to organic cyclic compound)|interpro:IPR001079(Galectin, galactose-binding lectin)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR044156|mint:P09382|rcsb pdb:1GZW|rcsb pdb:1W6M|rcsb pdb:1W6N|rcsb pdb:1W6O|rcsb pdb:1W6P|rcsb pdb:1W6Q|rcsb pdb:2KM2|rcsb pdb:2ZKN|rcsb pdb:3OY8|rcsb pdb:3OYW|rcsb pdb:3T2T|rcsb pdb:3W58|rcsb pdb:3W59|rcsb pdb:4Q1P|go:"GO:0031295"(T cell costimulation)|go:"GO:0034120"(positive regulation of erythrocyte aggregation)|go:"GO:0035900"(response to isolation stress)|go:"GO:0042493"|go:"GO:0042802"(identical protein binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043236"(laminin binding)|go:"GO:0045445"(myoblast differentiation)|go:"GO:0046598"(positive regulation of viral entry into host cell)|go:"GO:0048678"(response to axon injury)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070062"(extracellular exosome)|rcsb pdb:4Q1R|rcsb pdb:4Q26|rcsb pdb:4Q27|rcsb pdb:4Q2F|rcsb pdb:4XBL|rcsb pdb:4Y1U|rcsb pdb:4Y1V|rcsb pdb:4Y1X|rcsb pdb:4Y1Y|rcsb pdb:4Y1Z|rcsb pdb:4Y20|rcsb pdb:4Y22|rcsb pdb:4Y24|rcsb pdb:5MWT|rcsb pdb:5MWX|rcsb pdb:6B94|rcsb pdb:6F83|rcsb pdb:6M5Y|reactome:R-HSA-381426|reactome:R-HSA-8957275|dip:DIP-46153N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Sov3RfY2NOjdjuvdFlEd/vaNTMY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P08708 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358255|uniprotkb:B2R4U4|intact:EBI-8012092|intact:EBI-11603362|intact:MINT-8395037|uniprotkb:P0CW22|ensembl:ENSP00000483755|ensembl:ENSP00000498019 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs17_human(display_long)|uniprotkb:RPS17(gene name)|psi-mi:RPS17(display_short)|uniprotkb:Small ribosomal subunit protein eS17(gene name synonym)|uniprotkb:RPS17L(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001012.1|ensembl:ENSG00000182774(gene)|ensembl:ENSG00000278229(gene)|ensembl:ENST00000617731(transcript)|ensembl:ENST00000647841(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0006413"(translational initiation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0042274"(ribosomal small subunit biogenesis)|interpro:IPR001210(Ribosomal protein S17e)|interpro:IPR018273|interpro:IPR036401|mint:P08708|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|go:"GO:0034101"(erythrocyte homeostasis)|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBS|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:st+xQCXdSObiy6cJD1cSx869V289606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P08670 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353844|uniprotkb:Q15867|uniprotkb:Q15868|uniprotkb:Q15869|uniprotkb:Q548L2|uniprotkb:Q6LER9|uniprotkb:Q8N850|uniprotkb:Q96ML2|uniprotkb:Q9NTM3|uniprotkb:B0YJC2|intact:EBI-3442369|uniprotkb:D3DRU4|ensembl:ENSP00000224237|ensembl:ENSP00000446007 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:vime_human(display_long)|uniprotkb:VIM(gene name)|psi-mi:VIM(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003371.2|ensembl:ENSG00000026025(gene)|ensembl:ENST00000224237(transcript)|ensembl:ENST00000544301(transcript)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0005737"(cytoplasm)|go:"GO:0005777"(peroxisome)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005882"(intermediate filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0014002"(astrocyte development)|go:"GO:0016363"(nuclear matrix)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031252"(cell leading edge)|go:"GO:0032967"(positive regulation of collagen biosynthetic process)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0060020"(Bergmann glial cell differentiation)|go:"GO:0070307"(lens fiber cell development)|go:"GO:0060395"(SMAD protein signal transduction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0097110"(scaffold protein binding)|go:"GO:1990254"(keratin filament binding)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR006821(Intermediate filament, DNA-binding region)|interpro:IPR018039|interpro:IPR027699|interpro:IPR039008|mint:P08670|rcsb pdb:1GK4|rcsb pdb:1GK6|rcsb pdb:1GK7|rcsb pdb:3G1E|rcsb pdb:3KLT|rcsb pdb:3S4R|rcsb pdb:3SSU|rcsb pdb:3SWK|rcsb pdb:3TRT|rcsb pdb:3UF1|rcsb pdb:4MCY|rcsb pdb:4MCZ|rcsb pdb:4MD0|rcsb pdb:4MD5|rcsb pdb:4MDI|rcsb pdb:4MDJ|rcsb pdb:4YPC|rcsb pdb:4YV3|rcsb pdb:5WHF|rcsb pdb:6ATF|rcsb pdb:6ATI|rcsb pdb:6BIR|rcsb pdb:6YXK|reactome:R-HSA-264870|reactome:R-HSA-390522|reactome:R-HSA-6785807|reactome:R-HSA-9013422|reactome:R-HSA-9613829|reactome:R-HSA-9615710|reactome:R-HSA-9646399|refseq:XP_006717563.1|dip:DIP-32507N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GhAhVuXMNxi6P5J0CfNi5l9bjRk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:G3V203 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043935|ensembl:ENSP00000449610 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:g3v203_human(display_long)|uniprotkb:RPL18(gene name)|psi-mi:RPL18(display_short)|uniprotkb:hCG_2000370(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000549273(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR000039(Ribosomal protein L18e)|interpro:IPR021131|interpro:IPR021132|interpro:IPR036227|ensembl:ENSG00000063177(gene) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:gEFeDW74V2Z62PuIdOxiZTnO0rw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P08240 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-726981|ensembl:ENSP00000328023|uniprotkb:Q9BVJ4|uniprotkb:A6NIB3|uniprotkb:B2R5Z8|uniprotkb:B4E0H3|uniprotkb:E9PJS4 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:srpra_human(display_long)|uniprotkb:SRPRA(gene name)|psi-mi:SRPRA(display_short)|uniprotkb:Docking protein alpha(gene name synonym)|uniprotkb:SRPR(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:2FH5|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0006605"(protein targeting)|go:"GO:0006613"(cotranslational protein targeting to membrane)|go:"GO:0006614"(SRP-dependent cotranslational protein targeting to membrane)|go:"GO:0016020"(membrane)|rcsb pdb:2GO5|go:"GO:0045047"(protein targeting to ER)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000897(Signal recognition particle, SRP54 subunit, GTPase)|rcsb pdb:5L3Q|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR007222(Signal recognition particle receptor, alpha subunit, N-terminal)|interpro:IPR011012(Longin-like)|interpro:IPR013822(Signal recognition particle, SRP54 subunit, helical bundle)|interpro:IPR027417|interpro:IPR036225|interpro:IPR042101|mint:P08240|rcsb pdb:6Y32|rcsb pdb:7NFX|reactome:R-HSA-1799339|reactome:R-HSA-381038|ensembl:ENSG00000182934(gene)|ensembl:ENST00000332118(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003924"(GTPase activity)|go:"GO:0005047"(signal recognition particle binding)|go:"GO:0005525"(GTP binding)|go:"GO:0005785"(signal recognition particle receptor complex)|refseq:NP_001171313.1|refseq:NP_003130.2 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4ag/lxPfDGSDWhpnuwQynTvCpuU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P08238 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352572|ensembl:ENSP00000325875|ensembl:ENSP00000360609|ensembl:ENSP00000360709|ensembl:ENSP00000481908|uniprotkb:Q5T9W7|uniprotkb:Q9NQW0|uniprotkb:Q9NTK6|uniprotkb:B2R5P0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hs90b_human(display_long)|uniprotkb:HSP90AB1(gene name)|psi-mi:HSP90AB1(display_short)|uniprotkb:HSP90B(gene name synonym)|uniprotkb:HSPC2(gene name synonym)|uniprotkb:HSPCB(gene name synonym)|uniprotkb:Heat shock 84 kDa(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000096384(gene)|ensembl:ENST00000353801(transcript)|ensembl:ENST00000371554(transcript)|ensembl:ENST00000371646(transcript)|ensembl:ENST00000620073(transcript)|go:"GO:0001890"(placenta development)|go:"GO:0002134"(UTP binding)|go:"GO:0002135"(CTP binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|refseq:NP_031381.2|go:"GO:0005739"(mitochondrion)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006457"(protein folding)|go:"GO:0006986"(response to unfolded protein)|go:"GO:0007004"(telomere maintenance via telomerase)|go:"GO:0009651"(response to salt stress)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0016234"(inclusion body)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0017098"(sulfonylurea receptor binding)|go:"GO:0019062"(virion attachment to host cell)|go:"GO:0019887"(protein kinase regulator activity)|go:"GO:0019900"(kinase binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0021955"(central nervous system neuron axonogenesis)|go:"GO:0023026"(MHC class II protein complex binding)|go:"GO:0030010"(establishment of cell polarity)|go:"GO:0045597"(positive regulation of cell differentiation)|go:"GO:0045793"(positive regulation of cell size)|go:"GO:0046983"(protein dimerization activity)|go:"GO:0048156"(tau protein binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048675"(axon extension)|go:"GO:0050821"(protein stabilization)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051131"(chaperone-mediated protein complex assembly)|go:"GO:0051248"(negative regulation of protein metabolic process)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0051897"(positive regulation of protein kinase B signaling)|go:"GO:0051973"(positive regulation of telomerase activity)|go:"GO:0060334"(regulation of interferon-gamma-mediated signaling pathway)|go:"GO:0060338"(regulation of type I interferon-mediated signaling pathway)|go:"GO:0070062"(extracellular exosome)|go:"GO:0030235"(nitric-oxide synthase regulator activity)|go:"GO:0030511"(positive regulation of transforming growth factor beta receptor signaling pathway)|go:"GO:0030911"(TPR domain binding)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0031396"(regulation of protein ubiquitination)|go:"GO:0031526"(brush border membrane)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032092"(positive regulation of protein binding)|go:"GO:0032435"(negative regulation of proteasomal ubiquitin-dependent protein catabolic process)|go:"GO:0032516"(positive regulation of phosphoprotein phosphatase activity)|go:"GO:0032564"(dATP binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0034605"(cellular response to heat)|go:"GO:0034751"(aryl hydrocarbon receptor complex)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0042220"(response to cocaine)|go:"GO:0042277"(peptide binding)|go:"GO:0042307"(positive regulation of protein import into nucleus)|go:"GO:0042470"(melanosome)|go:"GO:0042493"|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043008"(ATP-dependent protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043524"(negative regulation of neuron apoptotic process)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0044294"(dendritic growth cone)|go:"GO:0044295"(axonal growth cone)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0045296"(cadherin binding)|go:"GO:0045429"(positive regulation of nitric oxide biosynthetic process)|go:"GO:0070182"(DNA polymerase binding)|go:"GO:0071353"(cellular response to interleukin-4)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0071902"(positive regulation of protein serine/threonine kinase activity)|go:"GO:0097435"(supramolecular fiber organization)|go:"GO:0097718"(disordered domain specific binding)|go:"GO:0120293"(dynein axonemal particle)|go:"GO:1901389"(negative regulation of transforming growth factor beta activation)|go:"GO:1901799"(negative regulation of proteasomal protein catabolic process)|go:"GO:1902949"(positive regulation of tau-protein kinase activity)|go:"GO:1903660"(negative regulation of complement-dependent cytotoxicity)|go:"GO:1903827"|go:"GO:1904031"(positive regulation of cyclin-dependent protein kinase activity)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1905323"(telomerase holoenzyme complex assembly)|go:"GO:1990226"(histone methyltransferase binding)|go:"GO:1990565"(HSP90-CDC37 chaperone complex)|go:"GO:1990913"(sperm head plasma membrane)|go:"GO:1990917"(ooplasm)|go:"GO:2000010"(positive regulation of protein localization to cell surface)|interpro:IPR001404(Heat shock protein Hsp90)|interpro:IPR003594(ATP-binding region, ATPase-like)|interpro:IPR019805|interpro:IPR020568|interpro:IPR020575|interpro:IPR036890|interpro:IPR037196|mint:P08238|rcsb pdb:1QZ2|rcsb pdb:1UYM|rcsb pdb:2L6J|rcsb pdb:3FWV|rcsb pdb:3NMQ|rcsb pdb:3PRY|rcsb pdb:3UQ3|rcsb pdb:5FWK|rcsb pdb:5FWL|rcsb pdb:5FWM|rcsb pdb:5FWP|rcsb pdb:5UC4|rcsb pdb:5UCH|rcsb pdb:5UCI|rcsb pdb:5UCJ|rcsb pdb:6N8W|rcsb pdb:6N8Y|reactome:R-HSA-168928|reactome:R-HSA-2029482|reactome:R-HSA-3371497|reactome:R-HSA-3371511|reactome:R-HSA-3371568|reactome:R-HSA-3371571|reactome:R-HSA-399954|reactome:R-HSA-5336415|reactome:R-HSA-6798695|reactome:R-HSA-844456|reactome:R-HSA-8852276|reactome:R-HSA-8937144|reactome:R-HSA-8939211|reactome:R-HSA-9013418|reactome:R-HSA-9018519|reactome:R-HSA-9613829|reactome:R-HSA-9660826|reactome:R-HSA-9679191|refseq:NP_001258898.1|refseq:NP_001258899.1|refseq:NP_001258900.1|dip:DIP-413N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:wOsW7C10v2oMsM+REE38K6PAan09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P08195 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-702356|uniprotkb:Q13543|ensembl:ENSP00000367122 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:4f2_human(display_long)|uniprotkb:Lymphocyte activation antigen 4F2 large subunit(gene name synonym)|uniprotkb:4F2 heavy chain antigen(gene name synonym)|uniprotkb:SLC3A2(gene name)|psi-mi:SLC3A2(display_short)|uniprotkb:MDU1(gene name synonym)|uniprotkb:Solute carrier family 3 member 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001012680.1|refseq:NP_001012682.1|refseq:NP_001013269.1|refseq:NP_002385.3|ensembl:ENSG00000168003(gene)|ensembl:ENST00000377890(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0003824"(catalytic activity)|go:"GO:0005432"("calcium:sodium antiporter activity")|go:"GO:0005654"(nucleoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005975"(carbohydrate metabolic process)|go:"GO:0006816"(calcium ion transport)|go:"GO:0006865"(amino acid transport)|go:"GO:0009925"(basal plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0015173"(aromatic amino acid transmembrane transporter activity)|go:"GO:0015175"(neutral amino acid transmembrane transporter activity)|go:"GO:0015180"(L-alanine transmembrane transporter activity)|go:"GO:0015190"(L-leucine transmembrane transporter activity)|go:"GO:0015820"(leucine transport)|go:"GO:0015823"(phenylalanine transport)|go:"GO:0015827"(tryptophan transport)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0042470"(melanosome)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0044225"(apical pole of neuron)|go:"GO:0045202"(synapse)|go:"GO:0045296"(cadherin binding)|go:"GO:0046718"(viral entry into host cell)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098713"(leucine import across plasma membrane)|go:"GO:1903801"(L-leucine import across plasma membrane)|go:"GO:1904273"(L-alanine import across plasma membrane)|go:"GO:1990184"(amino acid transport complex)|interpro:IPR006047(Glycosyl hydrolase, family 13, catalytic region)|interpro:IPR013780(Glycosyl hydrolase, family 13, all-beta)|interpro:IPR017853(Glycoside hydrolase, catalytic core)|interpro:IPR031984|interpro:IPR042280|mint:P08195|rcsb pdb:2DH2|rcsb pdb:2DH3|rcsb pdb:6IRS|rcsb pdb:6IRT|rcsb pdb:6JMQ|rcsb pdb:6JMR|rcsb pdb:6S8V|rcsb pdb:7CCS|reactome:R-HSA-210991|reactome:R-HSA-352230|reactome:R-HSA-5660862|reactome:R-HSA-71240 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:+7lJ/35nXzIs8SLCor0Vh5fAZYQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P07900 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-296047|intact:EBI-1642144|uniprotkb:Q2PP14|ensembl:ENSP00000216281|uniprotkb:Q5CAQ6|uniprotkb:Q5CAQ7|uniprotkb:Q9BVQ5|intact:EBI-2211817|uniprotkb:A8K500|uniprotkb:B3KPJ9 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hs90a_human(display_long)|uniprotkb:HSP90AA1(gene name)|psi-mi:HSP90AA1(display_short)|uniprotkb:HSP90A(gene name synonym)|uniprotkb:HSPC1(gene name synonym)|uniprotkb:Heat shock 86 kDa(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-38(gene name synonym)|uniprotkb:HSPCA(gene name synonym)|uniprotkb:Lipopolysaccharide-associated protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0009409"(response to cold)|go:"GO:0016020"(membrane)|go:"GO:0021955"(central nervous system neuron axonogenesis)|go:"GO:0023026"(MHC class II protein complex binding)|go:"GO:0030010"(establishment of cell polarity)|go:"GO:0030235"(nitric-oxide synthase regulator activity)|go:"GO:0030911"(TPR domain binding)|go:"GO:0031396"(regulation of protein ubiquitination)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032273"(positive regulation of protein polymerization)|go:"GO:0032728"(positive regulation of interferon-beta production)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0034605"(cellular response to heat)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0042026"(protein refolding)|go:"GO:0042470"(melanosome)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:1902949"(positive regulation of tau-protein kinase activity)|go:"GO:1903364"(positive regulation of cellular protein catabolic process)|go:"GO:1903827"|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1905323"(telomerase holoenzyme complex assembly)|go:"GO:1990782"(protein tyrosine kinase binding)|interpro:IPR001404(Heat shock protein Hsp90)|interpro:IPR003594(ATP-binding region, ATPase-like)|interpro:IPR019805|interpro:IPR020568|interpro:IPR020575|interpro:IPR036890|interpro:IPR037196|mint:P07900|rcsb pdb:1BYQ|rcsb pdb:1OSF|rcsb pdb:1UY6|rcsb pdb:1UY7|ensembl:ENST00000216281(transcript)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0002218"(activation of innate immune response)|go:"GO:0002230"(positive regulation of defense response to virus by host)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|ensembl:ENSG00000080824(gene)|go:"GO:0005886"(plasma membrane)|go:"GO:0006457"(protein folding)|go:"GO:0006839"(mitochondrial transport)|go:"GO:0006986"(response to unfolded protein)|go:"GO:0007004"(telomere maintenance via telomerase)|go:"GO:0009408"(response to heat)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043209"(myelin sheath)|go:"GO:0043254"(regulation of protein-containing complex assembly)|go:"GO:0043335"(protein unfolding)|go:"GO:0044294"(dendritic growth cone)|go:"GO:0044295"(axonal growth cone)|go:"GO:0045040"(protein insertion into mitochondrial outer membrane)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0045429"(positive regulation of nitric oxide biosynthetic process)|go:"GO:0046677"(response to antibiotic)|go:"GO:0048156"(tau protein binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048675"(axon extension)|go:"GO:0050821"(protein stabilization)|go:"GO:0051020"(GTPase binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051131"(chaperone-mediated protein complex assembly)|go:"GO:0051897"(positive regulation of protein kinase B signaling)|go:"GO:0051973"(positive regulation of telomerase activity)|go:"GO:0061684"(chaperone-mediated autophagy)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070182"(DNA polymerase binding)|go:"GO:0071682"(endocytic vesicle lumen)|go:"GO:0097110"(scaffold protein binding)|go:"GO:0097718"(disordered domain specific binding)|go:"GO:0098586"(cellular response to virus)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|rcsb pdb:1UY9|rcsb pdb:1UYC|rcsb pdb:1UYD|rcsb pdb:1UYE|rcsb pdb:1UYF|rcsb pdb:1UYG|rcsb pdb:1UYH|rcsb pdb:1UYI|rcsb pdb:1UYK|rcsb pdb:1UYL|rcsb pdb:1UY8|rcsb pdb:1YC1|rcsb pdb:1YC3|rcsb pdb:1YC4|rcsb pdb:1YER|rcsb pdb:1YES|rcsb pdb:1YET|rcsb pdb:2BSM|rcsb pdb:2BT0|rcsb pdb:2BUG|rcsb pdb:2WI1|rcsb pdb:2WI2|rcsb pdb:2WI3|rcsb pdb:2WI4|rcsb pdb:2WI5|rcsb pdb:2WI6|rcsb pdb:2WI7|rcsb pdb:2XAB|rcsb pdb:2XDK|rcsb pdb:2XDL|rcsb pdb:2XDS|rcsb pdb:2XDU|rcsb pdb:2XDX|rcsb pdb:2XHR|rcsb pdb:2XHT|rcsb pdb:2XHX|rcsb pdb:2XJG|rcsb pdb:2XJJ|rcsb pdb:2XJX|rcsb pdb:2XK2|rcsb pdb:2YE2|rcsb pdb:2YE3|rcsb pdb:2YE4|rcsb pdb:2YE5|rcsb pdb:2YE6|rcsb pdb:2YE7|rcsb pdb:2YE8|rcsb pdb:2YE9|rcsb pdb:2YEA|rcsb pdb:2YEB|rcsb pdb:2BYI|rcsb pdb:2BZ5|rcsb pdb:2C2L|rcsb pdb:2CCS|rcsb pdb:2CCT|rcsb pdb:2CCU|rcsb pdb:2FWY|rcsb pdb:2FWZ|rcsb pdb:2H55|rcsb pdb:2JJC|rcsb pdb:2K5B|rcsb pdb:2QF6|rcsb pdb:2QFO|rcsb pdb:2QG0|rcsb pdb:2QG2|rcsb pdb:2UWD|rcsb pdb:2VCI|rcsb pdb:2BYH|rcsb pdb:2VCJ|rcsb pdb:3B25|rcsb pdb:3B26|rcsb pdb:3B27|rcsb pdb:3B28|rcsb pdb:3BM9|rcsb pdb:3BMY|rcsb pdb:3D0B|rcsb pdb:3EKO|rcsb pdb:3EKR|rcsb pdb:3FT5|rcsb pdb:3FT8|rcsb pdb:3HEK|rcsb pdb:3HHU|rcsb pdb:3HYY|rcsb pdb:3HYZ|rcsb pdb:3HZ1|rcsb pdb:3HZ5|rcsb pdb:3INW|rcsb pdb:3B24|rcsb pdb:3INX|rcsb pdb:3K97|rcsb pdb:3K98|rcsb pdb:2YEC|rcsb pdb:2YED|rcsb pdb:2YEE|rcsb pdb:2YEF|rcsb pdb:2YEG|rcsb pdb:2YEH|rcsb pdb:2YEI|rcsb pdb:2YEJ|rcsb pdb:2YI0|rcsb pdb:2YI5|rcsb pdb:2YI6|rcsb pdb:2YI7|rcsb pdb:2YJW|rcsb pdb:2YJX|rcsb pdb:2YK2|rcsb pdb:2YK9|rcsb pdb:2YKB|rcsb pdb:2YKC|rcsb pdb:2YKE|rcsb pdb:2YKI|rcsb pdb:2YKJ|rcsb pdb:4CWF|rcsb pdb:4CWN|rcsb pdb:4CWO|rcsb pdb:4CWP|rcsb pdb:4CWQ|rcsb pdb:4CWR|rcsb pdb:4CWS|rcsb pdb:4CWT|rcsb pdb:4EEH|rcsb pdb:4EFT|rcsb pdb:4EFU|rcsb pdb:4EGH|rcsb pdb:4EGI|rcsb pdb:4EGK|rcsb pdb:4FCP|rcsb pdb:4FCQ|rcsb pdb:4FCR|rcsb pdb:4HY6|rcsb pdb:4JQL|rcsb pdb:4L8Z|rcsb pdb:4L90|rcsb pdb:4L91|rcsb pdb:5LO5|rcsb pdb:5LO6|rcsb pdb:5LQ9|rcsb pdb:5LR1|rcsb pdb:5LR7|rcsb pdb:5LRL|rcsb pdb:5LRZ|rcsb pdb:5LS1|rcsb pdb:5M4E|rcsb pdb:5M4H|rcsb pdb:5NYH|rcsb pdb:5NYI|rcsb pdb:5OCI|rcsb pdb:5OD7|rcsb pdb:5ODX|rcsb pdb:5T21|rcsb pdb:5VYY|rcsb pdb:5XQD|rcsb pdb:5XQE|rcsb pdb:5XR5|rcsb pdb:5XR9|rcsb pdb:5XRB|rcsb pdb:5XRD|rcsb pdb:5XRE|rcsb pdb:5LO1|rcsb pdb:5ZR3|rcsb pdb:6B99|rcsb pdb:6B9A|rcsb pdb:6CEO|rcsb pdb:6CYG|rcsb pdb:6EI5|rcsb pdb:6EL5|rcsb pdb:6ELN|rcsb pdb:6ELO|rcsb pdb:6ELP|rcsb pdb:6EY8|rcsb pdb:6EY9|rcsb pdb:6EYA|rcsb pdb:6EYB|rcsb pdb:6F1N|rcsb pdb:6FCJ|rcsb pdb:6FDP|rcsb pdb:6GP4|rcsb pdb:6GP8|rcsb pdb:6GPF|rcsb pdb:6GPH|rcsb pdb:6CYH|rcsb pdb:6GPO|rcsb pdb:6GPP|rcsb pdb:6GPR|rcsb pdb:6GPT|rcsb pdb:6GPW|rcsb pdb:6GPY|rcsb pdb:6GQ6|rcsb pdb:6GQR|rcsb pdb:6GQS|rcsb pdb:6GQU|rcsb pdb:6GR1|rcsb pdb:6GR3|rcsb pdb:6GR4|rcsb pdb:6GR5|rcsb pdb:6HHR|rcsb pdb:6KSQ|rcsb pdb:6LR9|rcsb pdb:6LSZ|rcsb pdb:6LT8|rcsb pdb:6LTI|rcsb pdb:6LTK|rcsb pdb:6N8X|rcsb pdb:6OLX|rcsb pdb:6TN5|rcsb pdb:6U98|rcsb pdb:6U99|rcsb pdb:6U9A|rcsb pdb:6U9B|rcsb pdb:7LSZ|rcsb pdb:7LT0|reactome:R-HSA-1227986|reactome:R-HSA-1236382|rcsb pdb:6TN4|reactome:R-HSA-1474151|reactome:R-HSA-168928|reactome:R-HSA-192905|reactome:R-HSA-2029482|reactome:R-HSA-203615|reactome:R-HSA-2565942|reactome:R-HSA-3000484|reactome:R-HSA-3371497|reactome:R-HSA-3371511|reactome:R-HSA-3371568|reactome:R-HSA-3371571|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-399954|reactome:R-HSA-4420097|reactome:R-HSA-5218920|reactome:R-HSA-5336415|reactome:R-HSA-5601884|reactome:R-HSA-5620912|reactome:R-HSA-5637810|reactome:R-HSA-5675482|reactome:R-HSA-6785807|reactome:R-HSA-6798695|reactome:R-HSA-8852276|reactome:R-HSA-8854518|reactome:R-HSA-8863795|reactome:R-HSA-8939211|reactome:R-HSA-9009391|reactome:R-HSA-9013418|reactome:R-HSA-9018519|reactome:R-HSA-9613829|reactome:R-HSA-9634285|reactome:R-HSA-9646399|reactome:R-HSA-9652282|reactome:R-HSA-9665233|reactome:R-HSA-9664565|reactome:R-HSA-9665244|reactome:R-HSA-9665245|reactome:R-HSA-9665246|reactome:R-HSA-9665247|reactome:R-HSA-9665249|reactome:R-HSA-9665250|reactome:R-HSA-9665251|reactome:R-HSA-9665348|reactome:R-HSA-9665686|reactome:R-HSA-9665737|reactome:R-HSA-9679191|rcsb pdb:3MNR|rcsb pdb:3O0I|rcsb pdb:3OW6|rcsb pdb:3OWB|rcsb pdb:3OWD|rcsb pdb:3Q6M|rcsb pdb:3Q6N|rcsb pdb:3QDD|rcsb pdb:3QTF|rcsb pdb:3R4M|rcsb pdb:3R4N|rcsb pdb:3R4O|rcsb pdb:3R4P|rcsb pdb:3R91|rcsb pdb:3R92|rcsb pdb:3K99|rcsb pdb:3RKZ|rcsb pdb:3RLP|rcsb pdb:3RLQ|rcsb pdb:3RLR|rcsb pdb:4L93|rcsb pdb:4L94|rcsb pdb:4LWE|rcsb pdb:4LWF|rcsb pdb:4LWG|rcsb pdb:4LWH|rcsb pdb:4LWI|rcsb pdb:4NH7|rcsb pdb:4NH8|rcsb pdb:4O04|rcsb pdb:4O05|rcsb pdb:4O07|rcsb pdb:4O09|rcsb pdb:4O0B|rcsb pdb:4R3M|rcsb pdb:4U93|rcsb pdb:4W7T|rcsb pdb:4XIP|rcsb pdb:4XIQ|rcsb pdb:4XIR|rcsb pdb:4XIT|rcsb pdb:4YKQ|rcsb pdb:4YKR|rcsb pdb:4YKT|rcsb pdb:4YKU|rcsb pdb:4YKW|rcsb pdb:4YKX|rcsb pdb:4YKY|rcsb pdb:3T0Z|rcsb pdb:3T10|rcsb pdb:3T1K|rcsb pdb:3T2S|rcsb pdb:3TUH|rcsb pdb:3VHA|rcsb pdb:3VHC|rcsb pdb:3VHD|rcsb pdb:3WHA|rcsb pdb:3WQ9|rcsb pdb:4AIF|rcsb pdb:4AWO|rcsb pdb:4AWP|rcsb pdb:3T0H|rcsb pdb:4AWQ|rcsb pdb:4B7P|rcsb pdb:4BQG|rcsb pdb:4BQJ|rcsb pdb:4CGQ|rcsb pdb:4CGU|rcsb pdb:4CGV|rcsb pdb:4CGW|rcsb pdb:5CF0|rcsb pdb:5FNC|rcsb pdb:5FND|rcsb pdb:5FNF|rcsb pdb:5GGZ|rcsb pdb:5J20|rcsb pdb:5J27|rcsb pdb:5J2V|rcsb pdb:5J2X|rcsb pdb:5J64|rcsb pdb:5J6L|rcsb pdb:5J6M|rcsb pdb:5J6N|rcsb pdb:5J80|rcsb pdb:5J82|rcsb pdb:5J86|rcsb pdb:5J8M|rcsb pdb:5J8U|rcsb pdb:5J9X|rcsb pdb:4YKZ|rcsb pdb:5LNY|rcsb pdb:5LNZ|rcsb pdb:5LO0|refseq:NP_001017963.2|refseq:NP_005339.3|dip:DIP-27595N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qfaAHww82iR1p0hvrJY5oavsNyA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P07437 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350864|uniprotkb:P05218|uniprotkb:Q8WUC1|uniprotkb:Q9CY33|ensembl:ENSP00000339001|ensembl:ENSP00000373058|ensembl:ENSP00000399155|ensembl:ENSP00000400663|ensembl:ENSP00000401317|ensembl:ENSP00000406811|ensembl:ENSP00000410071|ensembl:ENSP00000410829 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb5_human(display_long)|uniprotkb:TUBB(gene name)|psi-mi:TUBB(display_short)|uniprotkb:Tubulin beta-5 chain(gene name synonym)|uniprotkb:TUBB5(gene name synonym)|uniprotkb:OK/SW-cl.56(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_821133.1|refseq:NP_001280141.1|refseq:NP_001280142.1|refseq:NP_001280143.1|refseq:NP_001280144.1|refseq:NP_001280145.1|ensembl:ENSG00000183311(gene)|ensembl:ENSG00000196230(gene)|ensembl:ENSG00000224156(gene)|ensembl:ENSG00000227739(gene)|ensembl:ENSG00000229684(gene)|ensembl:ENSG00000232421(gene)|ensembl:ENSG00000232575(gene)|ensembl:ENSG00000235067(gene)|ensembl:ENST00000327892(transcript)|ensembl:ENST00000383564(transcript)|ensembl:ENST00000419792(transcript)|ensembl:ENST00000421473(transcript)|ensembl:ENST00000422650(transcript)|ensembl:ENST00000422674(transcript)|ensembl:ENST00000432462(transcript)|ensembl:ENST00000436628(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005641"(nuclear envelope lumen)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005874"(microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0009987"(cellular process)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030705"(cytoskeleton-dependent intracellular transport)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032794"(GTPase activating protein binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042267"(natural killer cell mediated cytotoxicity)|go:"GO:0042288"(MHC class I protein binding)|go:"GO:0044297"(cell body)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045121"(membrane raft)|go:"GO:0051225"(spindle assembly)|go:"GO:0051301"(cell division)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P07437|rcsb pdb:3QNZ|rcsb pdb:3QO0|rcsb pdb:5N5N|rcsb pdb:6I2I|rcsb pdb:6QUS|rcsb pdb:6QUY|rcsb pdb:6QVE|rcsb pdb:6QVJ|reactome:R-HSA-2565942|go:"GO:0050807"(regulation of synapse organization)|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-5620912|reactome:R-HSA-6798695|reactome:R-HSA-8854518|reactome:R-HSA-9679191|reactome:R-HSA-380320|dip:DIP-32772N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B6pmb1dvCroZXGd/1Zazi+s72GA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P07355 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352622|uniprotkb:Q567R4|uniprotkb:Q96DD5|intact:EBI-2211824|uniprotkb:Q6N0B3|uniprotkb:Q8TBV2|uniprotkb:Q9UDH8|ensembl:ENSP00000379342|ensembl:ENSP00000387545|ensembl:ENSP00000411352|ensembl:ENSP00000452858|ensembl:ENSP00000452895|ensembl:ENSP00000452981|ensembl:ENSP00000453694|ensembl:ENSP00000453859|ensembl:ENSP00000503447|ensembl:ENSP00000503757|ensembl:ENSP00000503855|ensembl:ENSP00000504035|ensembl:ENSP00000504164 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:anxa2_human(display_long)|uniprotkb:ANXA2(gene name)|psi-mi:ANXA2(display_short)|uniprotkb:ANX2(gene name synonym)|uniprotkb:ANX2L4(gene name synonym)|uniprotkb:CAL1H(gene name synonym)|uniprotkb:LPC2D(gene name synonym)|uniprotkb:Annexin-2(gene name synonym)|uniprotkb:Annexin II(gene name synonym)|uniprotkb:Lipocortin II(gene name synonym)|uniprotkb:Calpactin I heavy chain(gene name synonym)|uniprotkb:Chromobindin-8(gene name synonym)|uniprotkb:p36(gene name synonym)|uniprotkb:Protein I(gene name synonym)|uniprotkb:Placental anticoagulant protein IV(gene name synonym)|uniprotkb:Calpactin-1 heavy chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001002857.1|refseq:NP_001002858.1|refseq:NP_001129487.1|refseq:NP_004030.1|refseq:XP_016877579.1|refseq:XP_016877580.1|ensembl:ENSG00000182718(gene)|ensembl:ENST00000396024(transcript)|ensembl:ENST00000421017(transcript)|ensembl:ENST00000451270(transcript)|ensembl:ENST00000557906(transcript)|ensembl:ENST00000558558(transcript)|ensembl:ENST00000559818(transcript)|ensembl:ENST00000559956(transcript)|ensembl:ENST00000560468(transcript)|ensembl:ENST00000677968(transcript)|ensembl:ENST00000678061(transcript)|ensembl:ENST00000678450(transcript)|ensembl:ENST00000678870(transcript)|ensembl:ENST00000679109(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001726"(ruffle)|go:"GO:0001765"(membrane raft assembly)|go:"GO:0001786"(phosphatidylserine binding)|go:"GO:0001921"(positive regulation of receptor recycling)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0002020"(protease binding)|go:"GO:0003723"(RNA binding)|go:"GO:0004867"(serine-type endopeptidase inhibitor activity)|go:"GO:0005262"(calcium channel activity)|go:"GO:0005544"(calcium-dependent phospholipid binding)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005604"(basement membrane)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005938"(cell cortex)|go:"GO:0006900"(vesicle budding from membrane)|go:"GO:0007589"(body fluid secretion)|go:"GO:0008092"(cytoskeletal protein binding)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019834"(phospholipase A2 inhibitor activity)|go:"GO:0019897"(extrinsic component of plasma membrane)|go:"GO:0030199"(collagen fibril organization)|go:"GO:0030496"(midbody)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031340"(positive regulation of vesicle fusion)|go:"GO:0031902"(late endosome membrane)|go:"GO:0031982"(vesicle)|go:"GO:0032804"(negative regulation of low-density lipoprotein particle receptor catabolic process)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0035749"(myelin sheath adaxonal region)|go:"GO:0036035"(osteoclast development)|go:"GO:0042383"(sarcolemma)|go:"GO:0042470"(melanosome)|go:"GO:0042730"(fibrinolysis)|go:"GO:0042802"(identical protein binding)|go:"GO:0043220"(Schmidt-Lanterman incisure)|go:"GO:0044090"(positive regulation of vacuole organization)|go:"GO:0044354"(macropinosome)|go:"GO:0044548"(S100 protein binding)|go:"GO:0044730"(bone sialoprotein binding)|go:"GO:0045121"(membrane raft)|go:"GO:0046790"(virion binding)|go:"GO:0048146"(positive regulation of fibroblast proliferation)|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0005509"(calcium ion binding)|rcsb pdb:2HYU|rcsb pdb:2HYV|rcsb pdb:2HYW|rcsb pdb:4DRW|rcsb pdb:4FTG|rcsb pdb:4HRH|rcsb pdb:5LPU|rcsb pdb:5LPX|rcsb pdb:5LQ0|rcsb pdb:5LQ2|rcsb pdb:5N7D|rcsb pdb:5N7F|rcsb pdb:5N7G|rcsb pdb:6TWQ|rcsb pdb:6TWU|rcsb pdb:6TWX|rcsb pdb:6TWY|reactome:R-HSA-445355|reactome:R-HSA-6798695|reactome:R-HSA-75205|reactome:R-HSA-8950505|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|go:"GO:1905581"(positive regulation of low-density lipoprotein particle clearance)|go:"GO:1905597"(positive regulation of low-density lipoprotein particle receptor binding)|go:"GO:1905599"(positive regulation of low-density lipoprotein receptor activity)|go:"GO:1905602"(positive regulation of receptor-mediated endocytosis involved in cholesterol transport)|go:"GO:1990665"(AnxA2-p11 complex)|go:"GO:1990667"(PCSK9-AnxA2 complex)|interpro:IPR001464(Annexin)|interpro:IPR002389(Annexin, type II)|interpro:IPR018252|interpro:IPR018502|interpro:IPR037104|mint:P07355|rcsb pdb:1W7B|rcsb pdb:1XJL|go:"GO:0097066"(response to thyroid hormone) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:jcB4Dt0LFv8YaBUnC2BSTCshveg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06748 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-78579|uniprotkb:P08693|uniprotkb:Q12826|uniprotkb:Q13440|uniprotkb:Q13441|uniprotkb:Q14115|uniprotkb:Q5EU94|uniprotkb:Q5EU95|uniprotkb:Q5EU96|uniprotkb:Q5EU97|uniprotkb:Q5EU98|uniprotkb:Q5EU99|uniprotkb:Q6V962|uniprotkb:Q8WTW5|uniprotkb:Q96AT6|uniprotkb:Q96DC4|uniprotkb:Q96EA5|uniprotkb:A8K3N7|uniprotkb:B5BU00|uniprotkb:Q9UDJ7|uniprotkb:D3DQL6|uniprotkb:Q9BYG9|ensembl:ENSP00000296930|ensembl:ENSP00000428755 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:npm_human(display_long)|uniprotkb:NPM1(gene name)|psi-mi:NPM1(display_short)|uniprotkb:NPM(gene name synonym)|uniprotkb:Nucleolar phosphoprotein B23(gene name synonym)|uniprotkb:Numatrin(gene name synonym)|uniprotkb:Nucleolar protein NO38(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002511.1|refseq:NP_954654.1|refseq:NP_001032827.1|dip:DIP-30932N|ensembl:ENSG00000181163(gene)|ensembl:ENST00000296930(transcript)|ensembl:ENST00000517671(transcript)|go:"GO:0000055"(ribosomal large subunit export from nucleus)|go:"GO:0000056"(ribosomal small subunit export from nucleus)|go:"GO:0001046"(core promoter sequence-specific DNA binding)|go:"GO:0001558"(regulation of cell growth)|go:"GO:0001652"(granular component)|go:"GO:0003682"(chromatin binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0004860"(protein kinase inhibitor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006281"(DNA repair)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006407"(rRNA export from nucleus)|go:"GO:0006884"(cell volume homeostasis)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006913"(nucleocytoplasmic transport)|go:"GO:0007098"(centrosome cycle)|go:"GO:0007165"(signal transduction)|go:"GO:0007569"(cell aging)|go:"GO:0008104"(protein localization)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0010824"(regulation of centrosome duplication)|go:"GO:0010825"(positive regulation of centrosome duplication)|go:"GO:0010826"(negative regulation of centrosome duplication)|go:"GO:0015934"(large ribosomal subunit)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0019843"(rRNA binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030957"(Tat protein binding)|go:"GO:0031398"(positive regulation of protein ubiquitination)|go:"GO:0031616"(spindle pole centrosome)|go:"GO:0032071"(regulation of endodeoxyribonuclease activity)|go:"GO:0032991"(protein-containing complex)|go:"GO:0032993"(protein-DNA complex)|go:"GO:0034644"(cellular response to UV)|go:"GO:0042255"(ribosome assembly)|go:"GO:0042273"(ribosomal large subunit biogenesis)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042393"(histone binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043023"(ribosomal large subunit binding)|go:"GO:0043024"(ribosomal small subunit binding)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043516"(regulation of DNA damage response, signal transduction by p53 class mediator)|go:"GO:0044387"(negative regulation of protein kinase activity by regulation of protein phosphorylation)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046599"(regulation of centriole replication)|go:"GO:0047485"(protein N-terminus binding)|go:"GO:0048025"(negative regulation of mRNA splicing, via spliceosome)|go:"GO:0050821"(protein stabilization)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0060699"(regulation of endoribonuclease activity)|go:"GO:0060735"(regulation of eIF2 alpha phosphorylation by dsRNA)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1902629"(regulation of mRNA stability involved in cellular response to UV)|go:"GO:1902751"(positive regulation of cell cycle G2/M phase transition)|go:"GO:1904751"(positive regulation of protein localization to nucleolus)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR004301(Nucleoplasmin)|interpro:IPR024057|interpro:IPR032569|interpro:IPR036824|mint:P06748|rcsb pdb:2LLH|rcsb pdb:2P1B|rcsb pdb:2VXD|rcsb pdb:5EHD|reactome:R-HSA-180746|reactome:R-HSA-3899300|reactome:R-HSA-606279|reactome:R-HSA-6804115|reactome:R-HSA-8869496 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HJ7Mg+XsIhuJiScPKiI0dIa6KpM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06733 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353877|uniprotkb:P22712|uniprotkb:Q16704|uniprotkb:Q4TUS4|uniprotkb:Q658M5|uniprotkb:Q6GMP2|uniprotkb:Q71V37|uniprotkb:Q7Z3V6|uniprotkb:Q8WU71|uniprotkb:Q96GV1|uniprotkb:Q9BT62|uniprotkb:Q9UM55|ensembl:ENSP00000234590|uniprotkb:B2RD59|uniprotkb:Q53FT9|uniprotkb:Q53HR3|uniprotkb:Q9UCH6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:enoa_human(display_long)|uniprotkb:ENO1(gene name)|psi-mi:ENO1(display_short)|uniprotkb:ENO1L1(gene name synonym)|uniprotkb:MBPB1(gene name synonym)|uniprotkb:MPB1(gene name synonym)|uniprotkb:2-phospho-D-glycerate hydro-lyase(gene name synonym)|uniprotkb:Non-neural enolase(gene name synonym)|uniprotkb:Enolase 1(gene name synonym)|uniprotkb:Phosphopyruvate hydratase(gene name synonym)|uniprotkb:C-myc promoter-binding protein(gene name synonym)|uniprotkb:MBP-1(gene name synonym)|uniprotkb:MPB-1(gene name synonym)|uniprotkb:Plasminogen-binding protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001188412.1|refseq:NP_001419.1|ensembl:ENSG00000074800(gene)|ensembl:ENST00000234590(transcript)|go:"GO:0000015"(phosphopyruvate hydratase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000287"(magnesium ion binding)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003723"(RNA binding)|go:"GO:0004634"(phosphopyruvate hydratase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006096"(glycolytic process)|go:"GO:0009615"(response to virus)|go:"GO:0009986"(cell surface)|go:"GO:0010756"(positive regulation of plasminogen activation)|go:"GO:0016020"(membrane)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0031430"(M band)|go:"GO:0032889"(regulation of vacuole fusion, non-autophagic)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0045296"(cadherin binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045933"(positive regulation of muscle contraction)|go:"GO:0051020"(GTPase binding)|go:"GO:0061621"(canonical glycolysis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0099738"(cell cortex region)|go:"GO:1903298"(negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway)|go:"GO:2001171"(positive regulation of ATP biosynthetic process)|interpro:IPR000941(Enolase)|interpro:IPR020809|interpro:IPR020810|interpro:IPR020811|interpro:IPR029017|interpro:IPR036849|mint:P06733|rcsb pdb:2PSN|rcsb pdb:3B97|rcsb pdb:5JLZ|rcsb pdb:5LAX|rcsb pdb:5NI9|rcsb pdb:5NIG|rcsb pdb:5OCK|reactome:R-HSA-70171|reactome:R-HSA-70263|reactome:R-HSA-9636667 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:RmP7cr55H8ylcgBOEyivwljIE+09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06703 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352877|ensembl:ENSP00000357708|ensembl:ENSP00000357709|ensembl:ENSP00000473589|uniprotkb:Q5RHS4|uniprotkb:D3DV39 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:s10a6_human(display_long)|uniprotkb:S100A6(gene name)|psi-mi:S100A6(display_short)|uniprotkb:CACY(gene name synonym)|uniprotkb:S100 calcium-binding protein A6(gene name synonym)|uniprotkb:Calcyclin(gene name synonym)|uniprotkb:Prolactin receptor-associated protein(gene name synonym)|uniprotkb:Growth factor-inducible protein 2A9(gene name synonym)|uniprotkb:MLN 4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000197956(gene)|ensembl:ENST00000368719(transcript)|ensembl:ENST00000368720(transcript)|ensembl:ENST00000496817(transcript)|go:"GO:0001726"(ruffle)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005523"(tropomyosin binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0007165"(signal transduction)|go:"GO:0007409"(axonogenesis)|go:"GO:0008270"(zinc ion binding)|go:"GO:0015075"(ion transmembrane transporter activity)|go:"GO:0031234"(extrinsic component of cytoplasmic side of plasma membrane)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0044548"(S100 protein binding)|go:"GO:0048146"(positive regulation of fibroblast proliferation)|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001751(S100/CaBP-9k-type, calcium binding)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR013787(S100/CaBP-9k-type, calcium binding, subdomain)|interpro:IPR018247|interpro:IPR034118|mint:P06703|rcsb pdb:1K8U|rcsb pdb:1K96|rcsb pdb:1K9K|rcsb pdb:1K9P|rcsb pdb:2M1K|rcsb pdb:4YBH|go:"GO:0062023"(collagen-containing extracellular matrix)|refseq:NP_055439.1|refseq:XP_016857522.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:y8rq2lO1c3DEoVaKnfoLEAHsqmo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06576 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356231|ensembl:ENSP00000262030|uniprotkb:Q14283|uniprotkb:A8K4X0|intact:EBI-2322803 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:atpb_human(display_long)|uniprotkb:ATP5F1B(gene name)|psi-mi:ATP5F1B(display_short)|uniprotkb:ATP synthase F1 subunit beta(gene name synonym)|uniprotkb:ATP5B(gene name synonym)|uniprotkb:ATPMB(gene name synonym)|uniprotkb:ATPSB(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000110955(gene)|ensembl:ENST00000262030(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005739"(mitochondrion)|go:"GO:0005753"(mitochondrial proton-transporting ATP synthase complex)|go:"GO:0005754"(mitochondrial proton-transporting ATP synthase, catalytic core)|go:"GO:0005759"(mitochondrial matrix)|go:"GO:1902600"(proton transmembrane transport)|interpro:IPR000194(ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR004100(ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal)|interpro:IPR005722(ATPase, F1 complex, beta subunit)|interpro:IPR020003|interpro:IPR024034|interpro:IPR027417|interpro:IPR036121|mint:P06576|reactome:R-HSA-1268020|reactome:R-HSA-163210|reactome:R-HSA-2151201|reactome:R-HSA-8949613|go:"GO:0070062"(extracellular exosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0006091"(generation of precursor metabolites and energy)|go:"GO:0006754"(ATP biosynthetic process)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0031966"(mitochondrial membrane)|go:"GO:0042288"(MHC class I protein binding)|go:"GO:0042645"(mitochondrial nucleoid)|go:"GO:0042776"(mitochondrial ATP synthesis coupled proton transport)|go:"GO:0043532"(angiostatin binding)|go:"GO:0043536"(positive regulation of blood vessel endothelial cell migration)|go:"GO:0045259"(proton-transporting ATP synthase complex)|go:"GO:0045261"("proton-transporting ATP synthase complex, catalytic core F(1)")|go:"GO:0046933"(proton-transporting ATP synthase activity, rotational mechanism)|go:"GO:0046961"(proton-transporting ATPase activity, rotational mechanism)|go:"GO:0051453"(regulation of intracellular pH)|refseq:NP_001677.2 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:oLPUvG1tQkkzxzeAG6R0ZkZF+eg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06396 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351506|uniprotkb:Q8WVV7|ensembl:ENSP00000362924|uniprotkb:Q5T0I2|uniprotkb:A8MUD1|uniprotkb:B7Z373|uniprotkb:A2A418|uniprotkb:A8MYN7|uniprotkb:B7Z5V1|uniprotkb:F5H1A8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gels_human(display_long)|uniprotkb:GSN(gene name)|psi-mi:GSN(display_short)|uniprotkb:Actin-depolymerizing factor(gene name synonym)|uniprotkb:Brevin(gene name synonym)|uniprotkb:AGEL(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000168.1|refseq:NP_001121134.1|refseq:NP_001121136.1|refseq:NP_001121137.1|refseq:NP_001121138.1|refseq:NP_001121139.1|refseq:NP_937895.1|refseq:XP_011516888.1|refseq:XP_011516889.1|refseq:XP_011516890.1|refseq:XP_011516891.1|refseq:XP_011516892.1|refseq:XP_011516893.1|refseq:XP_011516894.1|refseq:XP_011516895.1|ensembl:ENSG00000148180(gene)|ensembl:ENST00000373818(transcript)|go:"GO:0002102"(podosome)|go:"GO:0003779"(actin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006911"(phagocytosis, engulfment)|go:"GO:0007417"(central nervous system development)|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0014891"(striated muscle atrophy)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016528"(sarcoplasm)|go:"GO:0030031"(cell projection assembly)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0030042"(actin filament depolymerization)|go:"GO:0030478"(actin cap)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031648"(protein destabilization)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0035994"(response to muscle stretch)|go:"GO:0036313"(phosphatidylinositol 3-kinase catalytic subunit binding)|go:"GO:0042989"(sequestering of actin monomers)|go:"GO:0045010"(actin nucleation)|go:"GO:0045159"(myosin II binding)|go:"GO:0046597"(negative regulation of viral entry into host cell)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0051127"(positive regulation of actin nucleation)|go:"GO:0051693"(actin filament capping)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060271"(cilium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071801"(regulation of podosome assembly)|go:"GO:0072562"(blood microparticle)|go:"GO:0086003"(cardiac muscle cell contraction)|go:"GO:0090527"(actin filament reorganization)|go:"GO:0097017"(renal protein absorption)|go:"GO:0097284"(hepatocyte apoptotic process)|go:"GO:1902174"(positive regulation of keratinocyte apoptotic process)|go:"GO:1903903"(regulation of establishment of T cell polarity)|go:"GO:1903906"(regulation of plasma membrane raft polarization)|go:"GO:1903909"(regulation of receptor clustering)|go:"GO:1903923"(positive regulation of protein processing in phagocytic vesicle)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1990000"(amyloid fibril formation)|go:"GO:2001269"(positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway)|interpro:IPR007122(Gelsolin)|interpro:IPR007123(Gelsolin region)|interpro:IPR029006|interpro:IPR030004|mint:P06396|rcsb pdb:1C0F|rcsb pdb:1C0G|rcsb pdb:1D4X|rcsb pdb:1DEJ|rcsb pdb:1EQY|rcsb pdb:1ESV|rcsb pdb:1H1V|rcsb pdb:1KCQ|rcsb pdb:1MDU|rcsb pdb:1NLV|rcsb pdb:1NM1|rcsb pdb:1NMD|rcsb pdb:1P8X|rcsb pdb:1SOL|rcsb pdb:1T44|rcsb pdb:1YAG|rcsb pdb:1YVN|rcsb pdb:2FF3|rcsb pdb:2FF6|rcsb pdb:2FH1|rcsb pdb:2FH2|rcsb pdb:2FH3|rcsb pdb:2FH4|rcsb pdb:3A5L|rcsb pdb:3A5M|rcsb pdb:3A5N|rcsb pdb:3A5O|rcsb pdb:3CI5|rcsb pdb:3CIP|rcsb pdb:3CJB|rcsb pdb:3CJC|rcsb pdb:3FFK|rcsb pdb:3FFN|rcsb pdb:3TU5|rcsb pdb:4PKG|rcsb pdb:4PKH|rcsb pdb:4PKI|rcsb pdb:4S10|rcsb pdb:4Z94|rcsb pdb:5DD2|rcsb pdb:5FAE|rcsb pdb:5FAF|rcsb pdb:5H3M|rcsb pdb:5H3N|rcsb pdb:5O2Z|rcsb pdb:5UBO|rcsb pdb:5ZZ0|rcsb pdb:6H1F|rcsb pdb:6JCO|rcsb pdb:6JEG|rcsb pdb:6JEH|rcsb pdb:6LJE|rcsb pdb:6LJF|rcsb pdb:6Q9R|rcsb pdb:6Q9Z|rcsb pdb:6QBF|rcsb pdb:1P8Z|rcsb pdb:6QW3|reactome:R-HSA-264870|reactome:R-HSA-6798695|reactome:R-HSA-9662361|reactome:R-HSA-977225|refseq:NP_001244958.1|refseq:NP_001244959.1|refseq:NP_001121135.2|refseq:XP_005252000.1|refseq:XP_005252001.1|refseq:XP_005252002.1|refseq:XP_006717142.1|refseq:XP_016870135.1|refseq:XP_016870136.1|refseq:XP_016870137.1|dip:DIP-2196N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uACf9A+H6LAOAZSMGYqeDwUL1Mc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P05556 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-703066|intact:EBI-4289597|ensembl:ENSP00000303351|ensembl:ENSP00000379350|ensembl:ENSP00000398029|ensembl:ENSP00000404546|ensembl:ENSP00000502882|ensembl:ENSP00000503546|ensembl:ENSP00000503916|ensembl:ENSP00000504205|ensembl:ENSP00000504444|uniprotkb:Q7Z3V1|uniprotkb:Q8WUM6|uniprotkb:P78466|uniprotkb:P78467|uniprotkb:Q13089|uniprotkb:Q13090|uniprotkb:Q13091|uniprotkb:Q13212|uniprotkb:Q14622|uniprotkb:Q14647|uniprotkb:A8K6N2|uniprotkb:Q29RW2|uniprotkb:D3DRX9|uniprotkb:D3DRY3|uniprotkb:D3DRY4|uniprotkb:D3DRY5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:itb1_human(display_long)|uniprotkb:Fibronectin receptor subunit beta(gene name synonym)|uniprotkb:VLA-4 subunit beta(gene name synonym)|uniprotkb:ITGB1(gene name)|psi-mi:ITGB1(display_short)|uniprotkb:FNRB(gene name synonym)|uniprotkb:MDF2(gene name synonym)|uniprotkb:MSK12(gene name synonym)|uniprotkb:Glycoprotein IIa(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0001618"(virus receptor activity)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0001708"(cell fate specification)|go:"GO:0001726"(ruffle)|go:"GO:0001968"(fibronectin binding)|go:"GO:0002020"(protease binding)|go:"GO:0002042"(cell migration involved in sprouting angiogenesis)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006909"(phagocytosis)|go:"GO:0006968"(cellular defense response)|go:"GO:0007155"(cell adhesion)|go:"GO:0007156"(homophilic cell adhesion via plasma membrane adhesion molecules)|go:"GO:0007159"(leukocyte cell-cell adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007161"(calcium-independent cell-matrix adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008354"(germ cell migration)|go:"GO:0008542"(visual learning)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0010008"(endosome membrane)|go:"GO:0010710"(regulation of collagen catabolic process)|go:"GO:0010763"(positive regulation of fibroblast migration)|go:"GO:0014704"(intercalated disc)|go:"GO:0015026"(coreceptor activity)|go:"GO:0016020"(membrane)|go:"GO:0016477"(cell migration)|go:"GO:0021943"(formation of radial glial scaffolds)|go:"GO:0023035"(CD40 signaling pathway)|go:"GO:0030027"(lamellipodium)|go:"GO:0030030"(cell projection organization)|go:"GO:0030032"(lamellipodium assembly)|go:"GO:0030175"(filopodium)|go:"GO:0030183"(B cell differentiation)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0031589"(cell-substrate adhesion)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0031623"(receptor internalization)|go:"GO:0032154"(cleavage furrow)|go:"GO:0032587"(ruffle membrane)|go:"GO:0033627"(cell adhesion mediated by integrin)|go:"GO:0033631"(cell-cell adhesion mediated by integrin)|go:"GO:0034113"(heterotypic cell-cell adhesion)|go:"GO:0034665"(integrin alpha1-beta1 complex)|go:"GO:0034666"(integrin alpha2-beta1 complex)|go:"GO:0034667"(integrin alpha3-beta1 complex)|go:"GO:0034668"(integrin alpha4-beta1 complex)|go:"GO:0034674"(integrin alpha5-beta1 complex)|go:"GO:0034677"(integrin alpha7-beta1 complex)|go:"GO:0034678"(integrin alpha8-beta1 complex)|go:"GO:0034680"(integrin alpha10-beta1 complex)|go:"GO:0034681"(integrin alpha11-beta1 complex)|go:"GO:0035024"(negative regulation of Rho protein signal transduction)|go:"GO:0035633"(maintenance of blood-brain barrier)|go:"GO:0035748"(myelin sheath abaxonal region)|go:"GO:0042383"(sarcolemma)|go:"GO:0042470"(melanosome)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043197"(dendritic spine)|go:"GO:0043235"(receptor complex)|go:"GO:0043236"(laminin binding)|go:"GO:0043547"(positive regulation of GTPase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045121"(membrane raft)|go:"GO:0045214"(sarcomere organization)|go:"GO:0045296"(cadherin binding)|go:"GO:0045596"(negative regulation of cell differentiation)|go:"GO:0045766"(positive regulation of angiogenesis)|go:"GO:0046872"(metal ion binding)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0048333"(mesodermal cell differentiation)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048675"(axon extension)|go:"GO:0048813"(dendrite morphogenesis)|go:"GO:0050839"(cell adhesion molecule binding)|go:"GO:0050901"(leukocyte tethering or rolling)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0051897"(positive regulation of protein kinase B signaling)|go:"GO:0051951"(positive regulation of glutamate uptake involved in transmission of nerve impulse)|go:"GO:0055007"(cardiac muscle cell differentiation)|go:"GO:0055037"(recycling endosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071404"(cellular response to low-density lipoprotein particle stimulus)|go:"GO:0071711"(basement membrane organization)|go:"GO:0090303"(positive regulation of wound healing)|go:"GO:0097386"(glial cell projection)|go:"GO:0098639"(collagen binding involved in cell-matrix adhesion)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099699"(integral component of synaptic membrane)|go:"GO:0150003"(regulation of spontaneous synaptic transmission)|go:"GO:0150103"(reactive gliosis)|go:"GO:1901979"(regulation of inward rectifier potassium channel activity)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|go:"GO:1990782"(protein tyrosine kinase binding)|go:"GO:2000273"(positive regulation of signaling receptor activity)|go:"GO:2000811"(negative regulation of anoikis)|interpro:IPR002369(Integrin beta subunit, N-terminal)|interpro:IPR012896(Integrin beta subunit, tail)|interpro:IPR013111(EGF, extracellular)|interpro:IPR014836(Integrin beta subunit, cytoplasmic)|interpro:IPR015812(Integrin beta subunit)|interpro:IPR016201(Plexin-like fold)|interpro:IPR027071|interpro:IPR032695|interpro:IPR033760|interpro:IPR036349|interpro:IPR036465|interpro:IPR040622|mint:P05556|rcsb pdb:1K11|rcsb pdb:1LHA|rcsb pdb:3G9W|rcsb pdb:3T9K|rcsb pdb:3VI3|rcsb pdb:3VI4|rcsb pdb:4DX9|rcsb pdb:4WJK|rcsb pdb:4WK0|rcsb pdb:4WK2|rcsb pdb:4WK4|rcsb pdb:7CEB|rcsb pdb:7CEC|rcsb pdb:7NWL|reactome:R-HSA-1566948|reactome:R-HSA-1566977|reactome:R-HSA-198933|ensembl:ENSG00000150093(gene)|ensembl:ENST00000302278(transcript)|ensembl:ENST00000396033(transcript)|ensembl:ENST00000417122(transcript)|ensembl:ENST00000437302(transcript)|ensembl:ENST00000677999(transcript)|ensembl:ENST00000678701(transcript)|ensembl:ENST00000678943(transcript)|ensembl:ENST00000678952(transcript)|ensembl:ENST00000678989(transcript)|go:"GO:0000082"(G1/S transition of mitotic cell cycle)|go:"GO:0000132"(establishment of mitotic spindle orientation)|refseq:NP_002202.2|refseq:NP_391988.1|refseq:NP_596867.1|dip:DIP-312N|reactome:R-HSA-202733|reactome:R-HSA-210991|reactome:R-HSA-2129379|reactome:R-HSA-216083|reactome:R-HSA-3000157|reactome:R-HSA-3000170|reactome:R-HSA-3000178|reactome:R-HSA-416700|reactome:R-HSA-445144|reactome:R-HSA-446343|reactome:R-HSA-447041|reactome:R-HSA-5663220|reactome:R-HSA-6785807|reactome:R-HSA-75892|reactome:R-HSA-8874081|reactome:R-HSA-8875513|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013408|reactome:R-HSA-9013423|reactome:R-HSA-9609690|reactome:R-HSA-9679191 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:FZ+lMRS6Zq07A8Lgmf5C6vEXUgM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P05388 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354101|uniprotkb:Q9BVK4|intact:EBI-8012155|intact:MINT-8395053|uniprotkb:Q3B7A4|ensembl:ENSP00000339027|ensembl:ENSP00000376299|ensembl:ENSP00000449328 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rla0_human(display_long)|uniprotkb:RPLP0(gene name)|psi-mi:RPLP0(display_short)|uniprotkb:60S ribosomal protein L10E(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000993.1|refseq:NP_444505.1|ensembl:ENSG00000089157(gene)|ensembl:ENST00000228306(transcript)|ensembl:ENST00000392514(transcript)|ensembl:ENST00000551150(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0030425"(dendrite)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070180"(large ribosomal subunit rRNA binding)|go:"GO:0071353"(cellular response to interleukin-4)|go:"GO:0098794"(postsynapse)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001790(Ribosomal protein L10)|interpro:IPR030670|interpro:IPR040637|interpro:IPR043141|interpro:IPR043164|mint:P05388|rcsb pdb:4V6W|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:6OLG|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-8950505|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:xv3QHqnXxvCd3BOIeHVkqEnSNNk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P05387 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352813|ensembl:ENSP00000322419|ensembl:ENSP00000431240|uniprotkb:Q6FG96 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rla2_human(display_long)|uniprotkb:RPLP2(gene name)|psi-mi:RPLP2(display_short)|uniprotkb:RPP2(gene name synonym)|uniprotkb:D11S2243E(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-44(gene name synonym)|uniprotkb:Large ribosomal subunit protein P2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000177600(gene)|ensembl:ENST00000321153(transcript)|ensembl:ENST00000530797(transcript)|go:"GO:0002182"(cytoplasmic translational elongation)|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-72689|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|interpro:IPR027534|interpro:IPR038716|interpro:IPR044076|mint:P05387|rcsb pdb:1S4J|rcsb pdb:2JDL|rcsb pdb:2LBF|rcsb pdb:2W1O|rcsb pdb:4BEH|rcsb pdb:4V6X|rcsb pdb:5DDZ|rcsb pdb:5GU4|go:"GO:0003735"(structural constituent of ribosome)|reactome:R-HSA-156827|reactome:R-HSA-156902|refseq:NP_000995.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IBI+x82JJYg66MPhGKw1/pI/bQA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P05386 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354582|uniprotkb:A6NIB2|ensembl:ENSP00000346037 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rla1_human(display_long)|uniprotkb:RPLP1(gene name)|psi-mi:RPLP1(display_short)|uniprotkb:RRP1(gene name synonym)|uniprotkb:Large ribosomal subunit protein P1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000994.1|refseq:NP_998890.1|ensembl:ENSG00000137818(gene)|ensembl:ENST00000260379(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0006414"(translational elongation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0030295"(protein kinase activator activity)|go:"GO:0043021"(ribonucleoprotein complex binding)|interpro:IPR027534|interpro:IPR038716|mint:P05386|rcsb pdb:2LBF|rcsb pdb:4BEH|rcsb pdb:4V6X|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rHSXz4ZCJy+JH6OrjUgHiTK85mo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P05023 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358778|uniprotkb:Q16689|uniprotkb:Q6LDM4|uniprotkb:Q9UJ20|uniprotkb:Q9UJ21|uniprotkb:B2RBR6|uniprotkb:Q9UCN1|ensembl:ENSP00000295598|uniprotkb:B7Z3U6|uniprotkb:B7Z2T5|uniprotkb:F5H3A1|intact:EBI-10963133 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:at1a1_human(display_long)|uniprotkb:ATP1A1(gene name)|psi-mi:ATP1A1(display_short)|uniprotkb:Sodium pump subunit alpha-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000692.2|refseq:NP_001153705.1|refseq:NP_001153706.1|go:"GO:0016328"(lateral plasma membrane)|go:"GO:0016791"(phosphatase activity)|ensembl:ENSG00000163399(gene)|ensembl:ENST00000295598(transcript)|go:"GO:0002026"(regulation of the force of heart contraction)|go:"GO:0002028"(regulation of sodium ion transport)|go:"GO:0005391"("P-type sodium:potassium-exchanging transporter activity")|go:"GO:0005524"(ATP binding)|go:"GO:0005768"(endosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005890"("sodium:potassium-exchanging ATPase complex")|go:"GO:0005901"(caveola)|go:"GO:0006883"(cellular sodium ion homeostasis)|go:"GO:0008217"(regulation of blood pressure)|go:"GO:0014069"(postsynaptic density)|go:"GO:0014704"(intercalated disc)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0030424"(axon)|go:"GO:0030506"(ankyrin binding)|go:"GO:0030955"(potassium ion binding)|go:"GO:0031090"(organelle membrane)|go:"GO:0031402"(sodium ion binding)|go:"GO:0031947"(negative regulation of glucocorticoid biosynthetic process)|go:"GO:0032991"(protein-containing complex)|go:"GO:0036126"(sperm flagellum)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071383"(cellular response to steroid hormone stimulus)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086009"(membrane repolarization)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086064"(cell communication by electrical coupling involved in cardiac conduction)|go:"GO:1902600"(proton transmembrane transport)|go:"GO:0036376"(sodium ion export across plasma membrane)|go:"GO:0042383"(sarcolemma)|go:"GO:0042470"(melanosome)|go:"GO:0042493"|go:"GO:0043531"(ADP binding)|go:"GO:0043548"(phosphatidylinositol 3-kinase binding)|go:"GO:0045121"(membrane raft)|go:"GO:0045822"(negative regulation of heart contraction)|go:"GO:0045823"(positive regulation of heart contraction)|go:"GO:0045989"(positive regulation of striated muscle contraction)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0051087"(chaperone binding)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060081"(membrane hyperpolarization)|go:"GO:0060342"(photoreceptor inner segment membrane)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903416"(response to glycoside)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1990239"(steroid hormone binding)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR001757(ATPase, P-type, K/Mg/Cd/Cu/Zn/Na/Ca/Na/H-transporter)|interpro:IPR004014(ATPase, P-type cation-transporter, N-terminal)|interpro:IPR005775(ATPase, P-type cation exchange, alpha subunit, eukaryotic)|interpro:IPR008250(E1-E2 ATPase-associated region)|interpro:IPR018303|interpro:IPR023214|interpro:IPR023298|interpro:IPR023299|interpro:IPR036412|interpro:IPR044492|mint:P05023|reactome:R-HSA-5578775|reactome:R-HSA-936837|reactome:R-HSA-9679191|interpro:IPR006068(ATPase, P-type cation-transporter, C-terminal)|refseq:XP_016856849.1|refseq:XP_016856850.1|dip:DIP-38196N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uZf9iX38kcZh0Q+apz8uB17EtJw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04899 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353997|uniprotkb:Q8IZ71|intact:EBI-2563889|uniprotkb:B4DYA0|intact:EBI-4404691|uniprotkb:Q6B6N3|uniprotkb:B3KTZ0|uniprotkb:B4E2X5|ensembl:ENSP00000312999 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gnai2_human(display_long)|uniprotkb:GNAI2(gene name)|psi-mi:GNAI2(display_short)|uniprotkb:GNAI2B(gene name synonym)|uniprotkb:Adenylate cyclase-inhibiting G alpha protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002061.1|refseq:NP_001269546.1|refseq:NP_001269549.1|refseq:NP_001269547.1|refseq:NP_001269548.1|refseq:NP_001159897.1|dip:DIP-602N|ensembl:ENSG00000114353(gene)|ensembl:ENST00000313601(transcript)|go:"GO:0001664"(G protein-coupled receptor binding)|go:"GO:0001973"(G protein-coupled adenosine receptor signaling pathway)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005834"(heterotrimeric G-protein complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0007049"(cell cycle)|go:"GO:0007165"(signal transduction)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007188"(adenylate cyclase-modulating G protein-coupled receptor signaling pathway)|go:"GO:0007189"(adenylate cyclase-activating G protein-coupled receptor signaling pathway)|go:"GO:0007193"(adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway)|go:"GO:0007194"(negative regulation of adenylate cyclase activity)|go:"GO:0007213"(G protein-coupled acetylcholine receptor signaling pathway)|go:"GO:0007214"(gamma-aminobutyric acid signaling pathway)|go:"GO:0007584"(response to nutrient)|go:"GO:0008283"(cell population proliferation)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0016020"(membrane)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0005737"(cytoplasm)|go:"GO:0030496"(midbody)|go:"GO:0031683"(G-protein beta/gamma-subunit complex binding)|go:"GO:0032930"(positive regulation of superoxide anion generation)|go:"GO:0033864"("positive regulation of NAD(P)H oxidase activity")|go:"GO:0035810"(positive regulation of urine volume)|go:"GO:0035815"(positive regulation of renal sodium excretion)|go:"GO:0044297"(cell body)|go:"GO:0045121"(membrane raft)|go:"GO:0045202"(synapse)|go:"GO:0045955"(negative regulation of calcium ion-dependent exocytosis)|go:"GO:0046628"(positive regulation of insulin receptor signaling pathway)|go:"GO:0046872"(metal ion binding)|go:"GO:0050805"(negative regulation of synaptic transmission)|go:"GO:0051301"(cell division)|go:"GO:0051924"(regulation of calcium ion transport)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0140199"(negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1903614"(negative regulation of protein tyrosine phosphatase activity)|go:"GO:0030425"(dendrite)|go:"GO:1904707"(positive regulation of vascular associated smooth muscle cell proliferation)|go:"GO:2000179"(positive regulation of neural precursor cell proliferation)|go:"GO:2001234"(negative regulation of apoptotic signaling pathway)|interpro:IPR001019("Guanine nucleotide binding protein (G-protein), alpha subunit")|interpro:IPR001408(G-protein alpha subunit, group I)|interpro:IPR011025(G protein alpha subunit, helical insertion)|interpro:IPR027417|rcsb pdb:6D9H|reactome:R-HSA-170670|reactome:R-HSA-392170|reactome:R-HSA-400042|reactome:R-HSA-418555|reactome:R-HSA-418594|reactome:R-HSA-418597|reactome:R-HSA-422356|reactome:R-HSA-9009391|reactome:R-HSA-9660821|mint:P04899 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Mi3PAXudkdPb375bOi7luNAmUaU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04844 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-719731|uniprotkb:Q5JYR6|uniprotkb:Q9UBE1|uniprotkb:Q6IBA5|uniprotkb:Q96E21|uniprotkb:Q9BUQ3|ensembl:ENSP00000237530 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rpn2_human(display_long)|uniprotkb:Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 63 kDa subunit(gene name synonym)|uniprotkb:Ribophorin-2(gene name synonym)|uniprotkb:Ribophorin II(gene name synonym)|uniprotkb:RIBIIR(gene name synonym)|uniprotkb:RPN2(gene name)|psi-mi:RPN2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001129243.1|refseq:NP_002942.2|ensembl:ENSG00000118705(gene)|ensembl:ENST00000237530(transcript)|go:"GO:0000421"(autophagosome membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0006464"(cellular protein modification process)|go:"GO:0006487"(protein N-linked glycosylation)|go:"GO:0007568"(aging)|go:"GO:0008250"(oligosaccharyltransferase complex)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016604"(nuclear body)|go:"GO:0018279"(protein N-linked glycosylation via asparagine)|go:"GO:0042493"|go:"GO:0043022"(ribosome binding)|interpro:IPR008814(Ribophorin II)|mint:P04844|rcsb pdb:6S7O|rcsb pdb:6S7T|reactome:R-HSA-1799339|reactome:R-HSA-446203|reactome:R-HSA-9694548|refseq:NP_001311234.1|refseq:NP_001311235.1|refseq:NP_001311228.1|refseq:NP_001311230.1|refseq:NP_001311231.1|refseq:NP_001311232.1|refseq:NP_001311233.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7bTuuEb3ykWQvkI/5DKpga48s/w9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04843 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355963|ensembl:ENSP00000296255|uniprotkb:D3DNB6|uniprotkb:Q68DT1|uniprotkb:B2R5Z0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rpn1_human(display_long)|uniprotkb:RPN1(gene name)|psi-mi:RPN1(display_short)|uniprotkb:Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 67 kDa subunit(gene name synonym)|uniprotkb:Ribophorin-1(gene name synonym)|uniprotkb:Ribophorin I(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000163902(gene)|ensembl:ENST00000296255(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006487"(protein N-linked glycosylation)|go:"GO:0008250"(oligosaccharyltransferase complex)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0018279"(protein N-linked glycosylation via asparagine)|go:"GO:0042470"(melanosome)|interpro:IPR007676(Ribophorin I)|mint:P04843|rcsb pdb:6S7O|rcsb pdb:6S7T|reactome:R-HSA-1799339|reactome:R-HSA-446203|reactome:R-HSA-9694548|go:"GO:0006464"(cellular protein modification process)|refseq:NP_002941.1|dip:DIP-38152N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rvQThNB/dCCNR9+IDssZo1qgZUE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04792 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352682|uniprotkb:Q6FI47|uniprotkb:Q96C20|uniprotkb:Q96EI7|uniprotkb:Q9UC34|uniprotkb:Q9UC35|uniprotkb:Q9UC36|uniprotkb:Q9UC31|ensembl:ENSP00000248553|uniprotkb:B2R4N8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hspb1_human(display_long)|uniprotkb:HSPB1(gene name)|psi-mi:HSPB1(display_short)|uniprotkb:HSP27(gene name synonym)|uniprotkb:HSP28(gene name synonym)|uniprotkb:Heat shock 27 kDa protein(gene name synonym)|uniprotkb:Stress-responsive protein 27(gene name synonym)|uniprotkb:Estrogen-regulated 24 kDa protein(gene name synonym)|uniprotkb:28 kDa heat shock protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001531.1|ensembl:ENSG00000106211(gene)|ensembl:ENST00000248553(transcript)|go:"GO:0000502"(proteasome complex)|go:"GO:0001895"(retina homeostasis)|go:"GO:0001932"(regulation of protein phosphorylation)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005819"(spindle)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006446"(regulation of translational initiation)|go:"GO:0006469"(negative regulation of protein kinase activity)|go:"GO:0006986"(response to unfolded protein)|go:"GO:0008426"(protein kinase C inhibitor activity)|go:"GO:0009615"(response to virus)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030018"(Z disc)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0035924"(cellular response to vascular endothelial growth factor stimulus)|go:"GO:0038033"(positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043122"(regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043130"(ubiquitin binding)|go:"GO:0043536"(positive regulation of blood vessel endothelial cell migration)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0045766"(positive regulation of angiogenesis)|go:"GO:0061077"(chaperone-mediated protein folding)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0099641"(anterograde axonal protein transport)|go:"GO:1902176"(negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway)|go:"GO:1904115"(axon cytoplasm)|go:"GO:2001028"(positive regulation of endothelial cell chemotaxis)|interpro:IPR001436(Alpha crystallin/Heat shock protein)|interpro:IPR002068(Heat shock protein Hsp20)|interpro:IPR008978(HSP20-like chaperone)|interpro:IPR037876|mint:P04792|rcsb pdb:2N3J|rcsb pdb:3Q9P|rcsb pdb:3Q9Q|rcsb pdb:4MJH|rcsb pdb:6DV5|rcsb pdb:6GJH|reactome:R-HSA-4420097|reactome:R-HSA-450408|reactome:R-HSA-5687128|reactome:R-HSA-9009391|dip:DIP-412N intact:EBI-27045766(see-also) - crc64:1B4DC44A6F6606D5 figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:vrDXIdzP30aHSDLHOh2D4x54eJY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04439 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1042870|uniprotkb:O02963|uniprotkb:O78073|uniprotkb:P79563|uniprotkb:Q30208|uniprotkb:Q31623|uniprotkb:Q95377|uniprotkb:Q9BD15|uniprotkb:Q9BD19|uniprotkb:Q9MW42|uniprotkb:Q9TQK5|ensembl:ENSP00000366005|ensembl:ENSP00000379873|intact:EBI-1050524|intact:EBI-1049899|intact:EBI-2839447|intact:EBI-1044129|intact:EBI-8770309|intact:EBI-21249599|uniprotkb:B1PKZ3|uniprotkb:O02939|uniprotkb:O02954|uniprotkb:O02955|uniprotkb:O19509|uniprotkb:O19546|uniprotkb:O19598|uniprotkb:O19605|uniprotkb:O19606|uniprotkb:O19619|uniprotkb:O19647|uniprotkb:O19673|uniprotkb:O19687|uniprotkb:O19695|uniprotkb:O19756|uniprotkb:O19794|uniprotkb:O19795|uniprotkb:O43906|uniprotkb:O43907|uniprotkb:O46874|uniprotkb:O62921|uniprotkb:O62924|uniprotkb:O77937|uniprotkb:O77938|uniprotkb:O77964|uniprotkb:O78171|uniprotkb:O98009|uniprotkb:P30455|uniprotkb:P30456|uniprotkb:P30457|uniprotkb:P30458|uniprotkb:O98010|uniprotkb:O98011|uniprotkb:O98137|uniprotkb:P01891|uniprotkb:P01892|uniprotkb:P05534|uniprotkb:P06338|uniprotkb:P10313|uniprotkb:P10314|uniprotkb:P10315|uniprotkb:P10316|uniprotkb:P13746|uniprotkb:P16188|uniprotkb:P16189|uniprotkb:P16190|uniprotkb:P18462|uniprotkb:P30443|uniprotkb:P30444|uniprotkb:P30445|uniprotkb:P30446|uniprotkb:P30447|uniprotkb:P30448|uniprotkb:P30449|uniprotkb:P30450|uniprotkb:P30451|uniprotkb:P30514|uniprotkb:P79505|uniprotkb:P79562|uniprotkb:Q09160|uniprotkb:Q29680|uniprotkb:P30512|uniprotkb:Q29747|uniprotkb:Q29835|uniprotkb:Q29837|uniprotkb:Q29838|uniprotkb:Q29899|uniprotkb:Q29908|uniprotkb:Q29909|uniprotkb:Q29910|uniprotkb:Q5S3G1|uniprotkb:Q65A82|uniprotkb:Q8MHM1|uniprotkb:Q8MHN9|uniprotkb:Q95352|uniprotkb:Q95355|uniprotkb:P30452|uniprotkb:P30459|uniprotkb:Q95380|uniprotkb:Q95IZ5|uniprotkb:Q9BCN0|uniprotkb:Q9GJE6|uniprotkb:Q9GJE7|uniprotkb:Q9GJE8|uniprotkb:Q9MY89|uniprotkb:Q9MYA3|uniprotkb:Q9MYA5|uniprotkb:Q9MYC4|uniprotkb:Q9MYE6|uniprotkb:Q9MYE9|uniprotkb:Q9MYG4|uniprotkb:Q9MYG5|uniprotkb:Q9MYI5|uniprotkb:Q9TP25|uniprotkb:Q9TPQ3|uniprotkb:Q9TPR8|uniprotkb:Q9TPX8|uniprotkb:Q9TPX9|uniprotkb:Q9TPY0|uniprotkb:Q95362|uniprotkb:Q9TQ24|uniprotkb:Q9TQE8|uniprotkb:Q9TQE9|uniprotkb:Q9TQF1|uniprotkb:Q9TQF5|uniprotkb:Q9TQF8|uniprotkb:Q9TQF9|uniprotkb:Q9TQG0|uniprotkb:Q9TQG5|uniprotkb:Q9TQG7|uniprotkb:Q9TQH5|uniprotkb:Q9TQI3|uniprotkb:Q9TQM6|uniprotkb:Q9TQN5|uniprotkb:Q9TQP5|uniprotkb:Q9TQP6|uniprotkb:Q9TQP7|uniprotkb:Q9UIN1|uniprotkb:Q9UIN2|uniprotkb:Q9UIP7|uniprotkb:Q9UQU3|uniprotkb:Q9UQU6|uniprotkb:Q9UQU7|uniprotkb:P30453|uniprotkb:P30454|intact:EBI-1050350|intact:EBI-21505155 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hlaa_human(display_long)|uniprotkb:HLA-A(gene name)|psi-mi:HLA-A(display_short)|uniprotkb:HLAA(gene name synonym)|uniprotkb:Human leukocyte antigen A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000376809(transcript)|ensembl:ENST00000396634(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001913"(T cell mediated cytotoxicity)|go:"GO:0001916"(positive regulation of T cell mediated cytotoxicity)|go:"GO:0002419"(T cell mediated cytotoxicity directed against tumor cell target)|go:"GO:0002485"(antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent)|go:"GO:0002486"(antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent)|go:"GO:0002726"(positive regulation of T cell cytokine production)|go:"GO:0003723"(RNA binding)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005797"(Golgi medial cisterna)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006955"(immune response)|go:"GO:0009986"(cell surface)|ensembl:ENSG00000206503(gene)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0016020"(membrane)|go:"GO:0016045"(detection of bacterium)|go:"GO:0019731"(antibacterial humoral response)|go:"GO:0019885"(antigen processing and presentation of endogenous peptide antigen via MHC class I)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0030881"(beta-2-microglobulin binding)|go:"GO:0031901"(early endosome membrane)|go:"GO:0032729"(positive regulation of interferon-gamma production)|go:"GO:0036037"(CD8-positive, alpha-beta T cell activation)|go:"GO:0042270"(protection from natural killer cell mediated cytotoxicity)|go:"GO:0042590"(antigen processing and presentation of exogenous peptide antigen via MHC class I)|go:"GO:0042605"(peptide antigen binding)|go:"GO:0042608"(T cell receptor binding)|go:"GO:0042610"(CD8 receptor binding)|go:"GO:0042612"(MHC class I protein complex)|go:"GO:0042824"(MHC class I peptide loading complex)|go:"GO:0045087"(innate immune response)|go:"GO:0046977"(TAP binding)|go:"GO:0050852"(T cell receptor signaling pathway)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0062061"(TAP complex binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070971"(endoplasmic reticulum exit site)|go:"GO:0071556"(integral component of lumenal side of endoplasmic reticulum membrane)|go:"GO:2000566"(positive regulation of CD8-positive, alpha-beta T cell proliferation)|go:"GO:2000568"(positive regulation of memory T cell activation)|go:"GO:2001187"(positive regulation of CD8-positive, alpha-beta T cell activation)|interpro:IPR001039(MHC class I, alpha chain, alpha1 and alpha2)|interpro:IPR003006(Immunoglobulin/major histocompatibility complex, conserved site)|go:"GO:0050830"(defense response to Gram-positive bacterium)|interpro:IPR003597(Immunoglobulin C1-set)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR010579(MHC class I, alpha chain, C-terminal)|interpro:IPR011161(MHC class I-like antigen recognition)|interpro:IPR011162(MHC classes I and II-like antigen recognition)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR037055|mint:P04439|rcsb pdb:1AKJ|rcsb pdb:1AO7|rcsb pdb:1AQD|rcsb pdb:1B0G|rcsb pdb:1B0R|rcsb pdb:1BD2|rcsb pdb:1DUY|rcsb pdb:1DUZ|rcsb pdb:1Q94|rcsb pdb:1QEW|rcsb pdb:1QR1|rcsb pdb:1QRN|rcsb pdb:1QSE|rcsb pdb:1QSF|rcsb pdb:1QVO|rcsb pdb:1S8D|rcsb pdb:1S9W|rcsb pdb:1S9X|rcsb pdb:1S9Y|rcsb pdb:1T1W|rcsb pdb:1T1X|rcsb pdb:1T1Y|rcsb pdb:1T1Z|rcsb pdb:1T20|rcsb pdb:1T21|rcsb pdb:1T22|rcsb pdb:1TMC|rcsb pdb:1TVB|rcsb pdb:1TVH|rcsb pdb:1UR7|rcsb pdb:1W72|rcsb pdb:1X7Q|rcsb pdb:2AV1|rcsb pdb:2AV7|rcsb pdb:2BCK|rcsb pdb:2BNQ|rcsb pdb:2BNR|rcsb pdb:2C7U|rcsb pdb:2CLR|rcsb pdb:2F53|rcsb pdb:2F54|rcsb pdb:2GIT|rcsb pdb:1P7Q|rcsb pdb:2GJ6|rcsb pdb:2GT9|rcsb pdb:2GTW|rcsb pdb:2GTZ|rcsb pdb:1EEY|rcsb pdb:1EEZ|rcsb pdb:1HHG|rcsb pdb:1HHH|rcsb pdb:1HHI|rcsb pdb:1HHJ|rcsb pdb:1HHK|rcsb pdb:1HLA|rcsb pdb:1HSB|rcsb pdb:1I1F|rcsb pdb:1I1Y|rcsb pdb:1I4F|rcsb pdb:1I7R|rcsb pdb:1I7T|rcsb pdb:1I7U|rcsb pdb:1IM3|rcsb pdb:1JF1|rcsb pdb:1JHT|rcsb pdb:1LP9|rcsb pdb:1OGA|rcsb pdb:5HGH|rcsb pdb:5HHM|rcsb pdb:5HHN|rcsb pdb:5HHO|rcsb pdb:5HHP|rcsb pdb:5HHQ|rcsb pdb:5HYJ|rcsb pdb:5IRO|rcsb pdb:5ISZ|rcsb pdb:5JHD|rcsb pdb:5JZI|rcsb pdb:5MEN|rcsb pdb:5MEO|rcsb pdb:5MEP|rcsb pdb:5MEQ|rcsb pdb:5MER|rcsb pdb:5N1Y|rcsb pdb:5N6B|rcsb pdb:5NHT|rcsb pdb:3MR9|rcsb pdb:3MRB|rcsb pdb:3MRC|rcsb pdb:3MRD|rcsb pdb:3MRE|rcsb pdb:3MRF|rcsb pdb:3MRG|rcsb pdb:3MGT|rcsb pdb:3MRH|rcsb pdb:3MRI|rcsb pdb:3MRJ|rcsb pdb:3MRK|rcsb pdb:3MRL|rcsb pdb:3MRM|rcsb pdb:3MRN|rcsb pdb:3MRO|rcsb pdb:3MRP|rcsb pdb:3MRQ|rcsb pdb:3MRR|rcsb pdb:3MYJ|rcsb pdb:3NFN|rcsb pdb:3O3A|rcsb pdb:3O3B|rcsb pdb:3O3D|rcsb pdb:3O3E|rcsb pdb:3O4L|rcsb pdb:3PWJ|rcsb pdb:3PWL|rcsb pdb:3PWN|rcsb pdb:3PWP|rcsb pdb:3QDG|rcsb pdb:3QDJ|rcsb pdb:3QDM|rcsb pdb:3QEQ|rcsb pdb:3QFD|rcsb pdb:3QFJ|rcsb pdb:3QZW|rcsb pdb:3REW|rcsb pdb:3RL1|rcsb pdb:3RL2|rcsb pdb:3TO2|rcsb pdb:3UTQ|rcsb pdb:3UTS|rcsb pdb:3UTT|rcsb pdb:3V5D|rcsb pdb:3V5H|rcsb pdb:3V5K|rcsb pdb:3VXM|rcsb pdb:3VXN|rcsb pdb:3VXO|rcsb pdb:3VXP|rcsb pdb:3VXR|rcsb pdb:3VXS|rcsb pdb:3VXU|rcsb pdb:3W0W|rcsb pdb:3WL9|rcsb pdb:3WLB|rcsb pdb:4E5X|rcsb pdb:4EMZ|rcsb pdb:4EN2|rcsb pdb:4EUP|rcsb pdb:4F7M|rcsb pdb:4F7P|rcsb pdb:4F7T|rcsb pdb:4FTV|rcsb pdb:4L29|rcsb pdb:4L3C|rcsb pdb:4L3E|rcsb pdb:4MJ5|rcsb pdb:4MJ6|rcsb pdb:4MNQ|rcsb pdb:4N8V|rcsb pdb:4NNX|rcsb pdb:4NNY|rcsb pdb:4NO0|rcsb pdb:4NO2|rcsb pdb:4NO3|rcsb pdb:4GKN|rcsb pdb:4NO5|rcsb pdb:4NQV|rcsb pdb:4NQX|rcsb pdb:4OV5|rcsb pdb:4QOK|rcsb pdb:4U6X|rcsb pdb:4GKS|rcsb pdb:4HWZ|rcsb pdb:4HX1|rcsb pdb:4U6Y|rcsb pdb:4UQ2|rcsb pdb:4UQ3|rcsb pdb:4I48|rcsb pdb:4WJ5|rcsb pdb:4I4W|rcsb pdb:4WU5|rcsb pdb:4JFD|rcsb pdb:4WU7|rcsb pdb:4WUU|rcsb pdb:4JFE|rcsb pdb:4JFF|rcsb pdb:4JFO|rcsb pdb:4JFP|rcsb pdb:4JFQ|rcsb pdb:4K7F|rcsb pdb:5BRZ|rcsb pdb:5BS0|rcsb pdb:5C07|rcsb pdb:5C08|rcsb pdb:5C09|rcsb pdb:5C0A|rcsb pdb:5C0B|rcsb pdb:5NMF|rcsb pdb:5NMG|rcsb pdb:5NMH|rcsb pdb:5NMK|rcsb pdb:5NQK|rcsb pdb:5SWQ|rcsb pdb:5TEZ|rcsb pdb:5W1W|rcsb pdb:5WJL|rcsb pdb:5WJN|rcsb pdb:5WKF|rcsb pdb:5WKH|rcsb pdb:5WSH|rcsb pdb:5WWI|rcsb pdb:5WWJ|rcsb pdb:5WWU|rcsb pdb:5WXC|rcsb pdb:5WXD|rcsb pdb:5XOV|rcsb pdb:5YXN|rcsb pdb:5YXU|rcsb pdb:6AM5|rcsb pdb:6AMT|rcsb pdb:6AMU|rcsb pdb:6APN|rcsb pdb:6AT9|rcsb pdb:6D78|rcsb pdb:6D7G|rcsb pdb:6DKP|rcsb pdb:6EI2|rcsb pdb:6ENY|rcsb pdb:6EQA|rcsb pdb:6EQB|rcsb pdb:5NME|rcsb pdb:5C0D|rcsb pdb:5C0E|rcsb pdb:5C0C|rcsb pdb:5C0F|rcsb pdb:5C0G|rcsb pdb:5C0I|rcsb pdb:5C0J|rcsb pdb:5D2L|rcsb pdb:5D2N|rcsb pdb:5D9S|rcsb pdb:5DDH|rcsb pdb:5E00|rcsb pdb:5E6I|rcsb pdb:5E9D|rcsb pdb:5ENW|rcsb pdb:5EOT|rcsb pdb:5EU3|rcsb pdb:5EU4|rcsb pdb:5EU5|rcsb pdb:5EU6|rcsb pdb:5EUO|rcsb pdb:5F7D|rcsb pdb:5F9J|rcsb pdb:5FA3|rcsb pdb:5FA4|rcsb pdb:5FDW|rcsb pdb:5GRD|rcsb pdb:5GRG|rcsb pdb:5GSD|rcsb pdb:5HGA|rcsb pdb:5HGB|rcsb pdb:5HGD|rcsb pdb:6EWA|rcsb pdb:6SS7|rcsb pdb:6SS8|rcsb pdb:6SS9|rcsb pdb:6SSA|reactome:R-HSA-1236974|reactome:R-HSA-1236977|reactome:R-HSA-164940|reactome:R-HSA-198933|reactome:R-HSA-6798695|reactome:R-HSA-877300|reactome:R-HSA-8866654|reactome:R-HSA-909733|reactome:R-HSA-983170|rcsb pdb:6RSY|rcsb pdb:6EWC|rcsb pdb:6EWO|rcsb pdb:6G3J|rcsb pdb:6G3K|rcsb pdb:6ID4|rcsb pdb:6J1W|rcsb pdb:6J29|rcsb pdb:6J2A|rcsb pdb:6JOZ|rcsb pdb:6JP3|rcsb pdb:6MPP|rcsb pdb:6NCA|rcsb pdb:6O9B|rcsb pdb:6O9C|rcsb pdb:6OPD|rcsb pdb:6PBH|rcsb pdb:6PTB|rcsb pdb:6PTE|rcsb pdb:6Q3K|rcsb pdb:6Q3S|rcsb pdb:6R2L|rcsb pdb:6RP9|rcsb pdb:6RPA|rcsb pdb:6RPB|rcsb pdb:2GUO|rcsb pdb:2HLA|rcsb pdb:2HN7|rcsb pdb:2J8U|rcsb pdb:2JCC|rcsb pdb:2P5E|rcsb pdb:2P5W|rcsb pdb:2PYE|rcsb pdb:2UWE|rcsb pdb:2V2W|rcsb pdb:2V2X|rcsb pdb:2VLJ|rcsb pdb:2VLK|rcsb pdb:2VLL|rcsb pdb:2VLR|rcsb pdb:2X4N|rcsb pdb:2X4O|rcsb pdb:2X4P|rcsb pdb:2X4Q|rcsb pdb:2X4R|rcsb pdb:2X4S|rcsb pdb:2X4T|rcsb pdb:2X4U|rcsb pdb:2X70|rcsb pdb:2XPG|rcsb pdb:3BGM|rcsb pdb:3BH8|rcsb pdb:3BH9|rcsb pdb:3BHB|rcsb pdb:3BO8|rcsb pdb:3D25|rcsb pdb:3D39|rcsb pdb:3D3V|rcsb pdb:3FQN|rcsb pdb:3FQR|rcsb pdb:3FQT|rcsb pdb:3FQU|rcsb pdb:3FQW|rcsb pdb:3FQX|rcsb pdb:3FT2|rcsb pdb:3FT3|rcsb pdb:3FT4|rcsb pdb:3GIV|rcsb pdb:3GJF|rcsb pdb:3GSN|rcsb pdb:3GSO|rcsb pdb:3GSQ|rcsb pdb:3GSR|rcsb pdb:3GSU|rcsb pdb:3GSV|rcsb pdb:3GSW|rcsb pdb:3GSX|rcsb pdb:3H7B|rcsb pdb:3H9H|rcsb pdb:3H9S|rcsb pdb:3HAE|rcsb pdb:3HLA|rcsb pdb:3HPJ|rcsb pdb:3I6G|rcsb pdb:3I6K|rcsb pdb:3I6L|rcsb pdb:3IXA|rcsb pdb:3KLA|rcsb pdb:3MGO|refseq:NP_002107.3|refseq:NP_001229687.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:RNvdwEiEB2h1Qfvd4BEIKiGzw1s9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04264 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-298429|uniprotkb:Q14720|uniprotkb:Q6GSJ0|uniprotkb:B2RA01|uniprotkb:Q9H298|ensembl:ENSP00000252244|uniprotkb:P85925|uniprotkb:P86104 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k2c1_human(display_long)|uniprotkb:KRT1(gene name)|psi-mi:KRT1(display_short)|uniprotkb:KRTA(gene name synonym)|uniprotkb:Keratin-1(gene name synonym)|uniprotkb:Cytokeratin-1(gene name synonym)|uniprotkb:67 kDa cytokeratin(gene name synonym)|uniprotkb:Hair alpha protein(gene name synonym)|uniprotkb:Type-II keratin Kb1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006112.3|ensembl:ENSG00000167768(gene)|ensembl:ENST00000252244(transcript)|go:"GO:0001533"(cornified envelope)|go:"GO:0001867"(complement activation, lectin pathway)|go:"GO:0001895"(retina homeostasis)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0006979"(response to oxidative stress)|go:"GO:0016020"(membrane)|go:"GO:0018149"(peptide cross-linking)|go:"GO:0030246"(carbohydrate binding)|go:"GO:0030280"(structural constituent of skin epidermis)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042730"(fibrinolysis)|go:"GO:0045095"(keratin filament)|go:"GO:0045765"(regulation of angiogenesis)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0050728"(negative regulation of inflammatory response)|go:"GO:0051290"(protein heterotetramerization)|go:"GO:0061436"(establishment of skin barrier)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR003054(Type II keratin)|interpro:IPR018039|interpro:IPR032444|interpro:IPR032449|interpro:IPR039008|mint:P04264|rcsb pdb:4ZRY|rcsb pdb:6E2J|rcsb pdb:6UUI|reactome:R-HSA-6798695|reactome:R-HSA-6805567|reactome:R-HSA-6809371 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:TeAC3i2hWTS2lgXT0i4agp9nv349606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P02786 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355727|uniprotkb:Q59G55|uniprotkb:Q9UCN0|uniprotkb:Q9UCU5|uniprotkb:Q9UDF9|uniprotkb:Q9UK21|uniprotkb:Q1HE24|uniprotkb:D3DXB0|ensembl:ENSP00000353224|ensembl:ENSP00000376197 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tfr1_human(display_long)|uniprotkb:TFRC(gene name)|psi-mi:TFRC(display_short)|uniprotkb:T9(gene name synonym)|uniprotkb:p90(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001121620.1|refseq:NP_003225.2|refseq:NP_001300894.1|refseq:NP_001300895.1|ensembl:ENSG00000072274(gene)|ensembl:ENST00000360110(transcript)|ensembl:ENST00000392396(transcript)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0004998"(transferrin receptor activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005905"(clathrin-coated pit)|go:"GO:0006826"(iron ion transport)|go:"GO:0006879"(cellular iron ion homeostasis)|go:"GO:0008235"(metalloexopeptidase activity)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0010008"(endosome membrane)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0010637"(negative regulation of mitochondrial fusion)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030316"(osteoclast differentiation)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0030890"(positive regulation of B cell proliferation)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031623"(receptor internalization)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0033572"(transferrin transport)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0035690"|go:"GO:0042102"(positive regulation of T cell proliferation)|go:"GO:0042470"(melanosome)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045780"(positive regulation of bone resorption)|go:"GO:0045830"(positive regulation of isotype switching)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0055037"(recycling endosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:0150104"(transport across blood-brain barrier)|go:"GO:1900182"(positive regulation of protein localization to nucleus)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1990712"(HFE-transferrin receptor complex)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|interpro:IPR003137(Protease-associated PA)|interpro:IPR007365(Transferrin receptor-like, dimerisation)|interpro:IPR007484(Peptidase M28)|interpro:IPR029513|interpro:IPR036757|interpro:IPR037324|interpro:IPR039373|mint:P02786|rcsb pdb:1CX8|rcsb pdb:1DE4|rcsb pdb:1SUV|rcsb pdb:2NSU|rcsb pdb:3KAS|rcsb pdb:3S9L|rcsb pdb:3S9M|rcsb pdb:3S9N|rcsb pdb:6D03|rcsb pdb:6D04|rcsb pdb:6D05|rcsb pdb:6GSR|rcsb pdb:6H5I|rcsb pdb:6OKD|rcsb pdb:6W3H|rcsb pdb:6WRV|rcsb pdb:6WRW|rcsb pdb:6WRX|rcsb pdb:6Y76|reactome:R-HSA-432722|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013406|reactome:R-HSA-9013407|reactome:R-HSA-9013408|reactome:R-HSA-9013409|reactome:R-HSA-9013423|reactome:R-HSA-917977|reactome:R-HSA-9696270|reactome:R-HSA-9696273|dip:DIP-2736N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:TWJEaKElrOrDMMqSefG5icrTbIU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P02511 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-739060|uniprotkb:O43416|uniprotkb:B0YIX0|uniprotkb:Q9UC37|uniprotkb:Q9UC38|uniprotkb:Q9UC39|uniprotkb:Q9UC40|uniprotkb:Q9UC41|ensembl:ENSP00000227251|ensembl:ENSP00000433560|ensembl:ENSP00000434247|ensembl:ENSP00000435931|ensembl:ENSP00000436051|ensembl:ENSP00000436089|ensembl:ENSP00000437149|ensembl:ENSP00000483554|ensembl:ENSP00000498735|ensembl:ENSP00000499082 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cryab_human(display_long)|uniprotkb:CRYAB(gene name)|psi-mi:CRYAB(display_short)|uniprotkb:CRYA2(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-27(gene name synonym)|uniprotkb:"Alpha(B)-crystallin"(gene name synonym)|uniprotkb:Rosenthal fiber component(gene name synonym)|uniprotkb:Heat shock protein beta-5(gene name synonym)|uniprotkb:HSPB5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000109846(gene)|ensembl:ENST00000227251(transcript)|ensembl:ENST00000526180(transcript)|ensembl:ENST00000527899(transcript)|ensembl:ENST00000527950(transcript)|ensembl:ENST00000531198(transcript)|ensembl:ENST00000533475(transcript)|ensembl:ENST00000533879(transcript)|ensembl:ENST00000616970(transcript)|ensembl:ENST00000650687(transcript)|ensembl:ENST00000651164(transcript)|go:"GO:0001540"(amyloid-beta binding)|go:"GO:0001666"(response to hypoxia)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006457"(protein folding)|go:"GO:0006936"(muscle contraction)|go:"GO:0007021"(tubulin complex assembly)|go:"GO:0007517"(muscle organ development)|go:"GO:0008017"(microtubule binding)|go:"GO:0009986"(cell surface)|go:"GO:0010259"(multicellular organism aging)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0010941"(regulation of cell death)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0030018"(Z disc)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0030424"(axon)|go:"GO:0031109"(microtubule polymerization or depolymerization)|go:"GO:0031333"(negative regulation of protein-containing complex assembly)|go:"GO:0031430"(M band)|go:"GO:0032355"(response to estradiol)|go:"GO:0032387"(negative regulation of intracellular transport)|go:"GO:0032432"(actin filament bundle)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042542"(response to hydrogen peroxide)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043154"(negative regulation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051403"(stress-activated MAPK cascade)|go:"GO:0060561"(apoptotic process involved in morphogenesis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0071480"(cellular response to gamma radiation)|go:"GO:0097060"(synaptic membrane)|go:"GO:0097512"(cardiac myofibril)|go:"GO:1905907"(negative regulation of amyloid fibril formation)|go:"GO:2000378"(negative regulation of reactive oxygen species metabolic process)|interpro:IPR001436(Alpha crystallin/Heat shock protein)|interpro:IPR002068(Heat shock protein Hsp20)|interpro:IPR003090(Alpha-crystallin, N-terminal)|interpro:IPR008978(HSP20-like chaperone)|interpro:IPR037882|mint:P02511|rcsb pdb:2KLR|rcsb pdb:2N0K|rcsb pdb:2WJ7|rcsb pdb:2Y1Y|rcsb pdb:2Y1Z|rcsb pdb:2YGD|rcsb pdb:3J07|rcsb pdb:2Y22|rcsb pdb:3L1G|rcsb pdb:3SGM|rcsb pdb:3SGN|rcsb pdb:3SGO|rcsb pdb:3SGP|rcsb pdb:3SGR|rcsb pdb:3SGS|rcsb pdb:4M5S|rcsb pdb:4M5T|rcsb pdb:5VVV|rcsb pdb:6BP9|reactome:R-HSA-3371571|refseq:NP_001876.1|refseq:XP_011540910.1|refseq:NP_001276736.1|refseq:NP_001276737.1|dip:DIP-35017N intact:EBI-27045766(see-also) - crc64:AE08BED46B7849CB figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:495Z42oQhkAUdADrAEOKIC5oICo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O95785 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1387294|uniprotkb:B7ZM82|uniprotkb:Q4G0E0|uniprotkb:Q6P6B0|uniprotkb:Q6ZN24|uniprotkb:Q7LDY6|uniprotkb:Q7LDZ1|uniprotkb:Q96IG5|uniprotkb:Q96SQ6|uniprotkb:Q9BUR8|uniprotkb:Q9NPT1|intact:EBI-10967552|uniprotkb:B3KVH1|uniprotkb:M0QY21 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:wiz_human(display_long)|uniprotkb:WIZ(gene name)|psi-mi:WIZ(display_short)|uniprotkb:ZNF803(gene name synonym)|uniprotkb:Widely-interspaced zinc finger-containing protein(gene name synonym)|uniprotkb:Zinc finger protein 803(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_067064.2|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|refseq:NP_001317324.1|interpro:IPR036236|mint:O95785|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0010571"(positive regulation of nuclear cell cycle DNA replication)|go:"GO:0030496"(midbody)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990226"(histone methyltransferase binding) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:FMQwuMDlEC/Zdsnayyl7kpQSmyg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O95782 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353552|uniprotkb:Q96CI7|uniprotkb:Q96PP6|uniprotkb:Q96PP7|uniprotkb:Q9H070|intact:EBI-28973302|ensembl:ENSP00000351926 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ap2a1_human(display_long)|uniprotkb:AP2A1(gene name)|psi-mi:AP2A1(display_short)|uniprotkb:ADTAA(gene name synonym)|uniprotkb:CLAPA1(gene name synonym)|uniprotkb:Adaptor protein complex AP-2 subunit alpha-1(gene name synonym)|uniprotkb:Alpha1-adaptin(gene name synonym)|uniprotkb:Plasma membrane adaptor HA2/AP2 adaptin alpha A subunit(gene name synonym)|uniprotkb:Alpha-adaptin A(gene name synonym)|uniprotkb:Clathrin assembly protein complex 2 alpha-A large chain(gene name synonym)|uniprotkb:100 kDa coated vesicle protein A(gene name synonym)|uniprotkb:Adaptor-related protein complex 2 subunit alpha-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_055018.2|refseq:NP_570603.2|ensembl:ENST00000354293|ensembl:ENSP00000346246|ensembl:ENSP00000351926|ensembl:ENSG00000196961(gene)|ensembl:ENST00000359032(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006895"(Golgi to endosome transport)|go:"GO:0006897"(endocytosis)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030122"(AP-2 adaptor complex)|go:"GO:0030130"(clathrin coat of trans-Golgi network vesicle)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0032433"(filopodium tip)|go:"GO:0035615"(clathrin adaptor activity)|go:"GO:0036020"(endolysosome membrane)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045334"(clathrin-coated endocytic vesicle)|go:"GO:0048260"(positive regulation of receptor-mediated endocytosis)|go:"GO:0050750"(low-density lipoprotein particle receptor binding)|go:"GO:0072583"(clathrin-dependent endocytosis)|go:"GO:0140312"(cargo adaptor activity)|go:"GO:1900126"(negative regulation of hyaluronan biosynthetic process)|interpro:IPR002553(Clathrin/coatomer adaptor, adaptin-like, N-terminal)|interpro:IPR003164(Clathrin adaptor, alpha-adaptin, appendage, C-terminal subdomain)|interpro:IPR008152(Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain)|interpro:IPR009028(Clathrin/coatomer adaptor, adaptin-like, appendage, C-terminal subdomain)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR012295(Beta2-adaptin/TATA-box binding, C-terminal)|interpro:IPR013041(Clathrin/coatomer adaptor, adaptin-like, appendage, Ig-like subdomain)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR017104(Adaptor protein complex AP-2, alpha subunit)|mint:O95782|reactome:R-HSA-167590|reactome:R-HSA-177504|reactome:R-HSA-182218|reactome:R-HSA-2132295|reactome:R-HSA-3928665|reactome:R-HSA-416993|reactome:R-HSA-437239|reactome:R-HSA-5099900|reactome:R-HSA-5140745|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8866427|reactome:R-HSA-8964038|reactome:R-HSA-9679191|dip:DIP-33164N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:egkaIAhvIi1FqNr+8KEFeJaYZcc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O95425 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-487145|uniprotkb:O60611|uniprotkb:O60612|uniprotkb:Q5VZK5|uniprotkb:Q5VZK6|uniprotkb:Q9H1R7|uniprotkb:D3DRW9|ensembl:ENSP00000348128|uniprotkb:M1J557 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:svil_human(display_long)|uniprotkb:Archvillin(gene name synonym)|uniprotkb:p205/p250(gene name synonym)|uniprotkb:SVIL(gene name)|psi-mi:SVIL(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0007519"(skeletal muscle tissue development)|refseq:NP_003165.2|refseq:NP_068506.2|ensembl:ENSG00000197321(gene)|ensembl:ENST00000355867(transcript)|go:"GO:0002102"(podosome)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|interpro:IPR007123(Gelsolin region)|interpro:IPR015628(Supervillin)|interpro:IPR029006|interpro:IPR036886|mint:O95425|rcsb pdb:2K6M|rcsb pdb:2K6N|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030496"(midbody)|go:"GO:0032154"(cleavage furrow)|go:"GO:0032467"(positive regulation of cytokinesis)|go:"GO:0036449"(microtubule minus-end)|go:"GO:0042995"(cell projection)|go:"GO:0043034"(costamere)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|interpro:IPR003128(Villin headpiece)|interpro:IPR007122(Gelsolin) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5FaBAFdOX+nPJzTwEdBt8e5Keng9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75533 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-876542|ensembl:ENSP00000335321|uniprotkb:E9PCH3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sf3b1_human(display_long)|uniprotkb:Pre-mRNA-splicing factor SF3b 155 kDa subunit(gene name synonym)|uniprotkb:Spliceosome-associated protein 155(gene name synonym)|uniprotkb:SF3B1(gene name)|psi-mi:SF3B1(display_short)|uniprotkb:SAP155(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000115524(gene)|ensembl:ENST00000335508(transcript)|go:"GO:0000245"(spliceosomal complex assembly)|go:"GO:0000375"(RNA splicing, via transesterification reactions)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005686"(U2 snRNP)|go:"GO:0005689"(U12-type spliceosomal complex)|go:"GO:0008380"(RNA splicing)|go:"GO:0016607"(nuclear speck)|go:"GO:0034693"(U11/U12 snRNP)|go:"GO:0071004"(U2-type prespliceosome)|go:"GO:0071005"(U2-type precatalytic spliceosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1990935"(splicing factor binding)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR015016(Splicing factor 3B subunit 1)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR038737|mint:O75533|rcsb pdb:2F9D|rcsb pdb:2F9J|rcsb pdb:2FHO|rcsb pdb:2PEH|rcsb pdb:3LQV|rcsb pdb:4OZ1|rcsb pdb:5IFE|rcsb pdb:5O9Z|rcsb pdb:5Z56|rcsb pdb:5Z57|rcsb pdb:5Z58|rcsb pdb:5ZYA|rcsb pdb:6AH0|rcsb pdb:6AHD|rcsb pdb:6EN4|rcsb pdb:6FF4|rcsb pdb:6FF7|rcsb pdb:6N3E|refseq:NP_036565.2|dip:DIP-29411N|rcsb pdb:6QX9|rcsb pdb:6Y50|rcsb pdb:6Y53|rcsb pdb:6Y5Q|rcsb pdb:7ABG|rcsb pdb:7ABH|rcsb pdb:7ABI|rcsb pdb:7DVQ|reactome:R-HSA-5250924|reactome:R-HSA-72163|reactome:R-HSA-72165 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2KqZNVdZoItavA0DFR3zZ16U0tI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75396 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1058865|ensembl:ENSP00000463393|uniprotkb:A8K1G0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sc22b_human(display_long)|uniprotkb:SEC22B(gene name)|psi-mi:SEC22B(display_short)|uniprotkb:SEC22L1(gene name synonym)|uniprotkb:SEC22 vesicle-trafficking protein homolog B(gene name synonym)|uniprotkb:SEC22 vesicle-trafficking protein-like 1(gene name synonym)|uniprotkb:ER-Golgi SNARE of 24 kDa(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000265808(gene)|ensembl:ENST00000578049(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005484"(SNAP receptor activity)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006890"(retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum)|go:"GO:0008021"(synaptic vesicle)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0015031"(protein transport)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019905"(syntaxin binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030137"(COPI-coated vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031201"(SNARE complex)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0042470"(melanosome)|go:"GO:0045732"(positive regulation of protein catabolic process)|go:"GO:0048280"(vesicle fusion with Golgi apparatus)|go:"GO:1902902"(negative regulation of autophagosome assembly)|interpro:IPR001388(Synaptobrevin)|interpro:IPR010908(Longin)|interpro:IPR011012(Longin-like)|interpro:IPR042855|interpro:IPR044565|mint:O75396|rcsb pdb:2NUP|rcsb pdb:2NUT|rcsb pdb:3EGD|rcsb pdb:3EGX|refseq:NP_004883.3|reactome:R-HSA-204005|reactome:R-HSA-5694530|reactome:R-HSA-6811434|reactome:R-HSA-1236974|dip:DIP-50458N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:DRKtD169T9eYZ2kFufLapidvcKs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75369 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352089|intact:EBI-1754974|uniprotkb:Q13706|uniprotkb:Q59EC2|uniprotkb:Q6MZJ1|uniprotkb:Q8WXS9|uniprotkb:Q8WXT0|uniprotkb:Q8WXT1|uniprotkb:Q8WXT2|uniprotkb:Q9NRB5|uniprotkb:B2ZZ84|uniprotkb:Q9NT26|uniprotkb:Q9UEV9|intact:EBI-1960054|uniprotkb:C9JKE6|uniprotkb:B2ZZ85|uniprotkb:C9JMC4|ensembl:ENSP00000295956|uniprotkb:B2ZZ83|uniprotkb:Q60FE7|uniprotkb:Q8WXT3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:flnb_human(display_long)|uniprotkb:FLNB(gene name)|psi-mi:FLNB(display_short)|uniprotkb:FLN1L(gene name synonym)|uniprotkb:FLN3(gene name synonym)|uniprotkb:TABP(gene name synonym)|uniprotkb:TAP(gene name synonym)|uniprotkb:Beta-filamin(gene name synonym)|uniprotkb:Actin-binding-like protein(gene name synonym)|uniprotkb:Thyroid autoantigen(gene name synonym)|uniprotkb:Truncated actin-binding protein(gene name synonym)|uniprotkb:ABP-280 homolog(gene name synonym)|uniprotkb:ABP-278(gene name synonym)|uniprotkb:Filamin-3(gene name synonym)|uniprotkb:Filamin homolog 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001157791.1|refseq:NP_001448.2|go:"GO:0003334"(keratinocyte development)|go:"GO:0003382"(epithelial cell morphogenesis)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005925"(focal adhesion)|go:"GO:0005938"(cell cortex)|go:"GO:0007165"(signal transduction)|go:"GO:0007519"(skeletal muscle tissue development)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030018"(Z disc)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043025"(neuronal cell body)|go:"GO:0045296"(cadherin binding)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071346"(cellular response to interferon-gamma)|interpro:IPR001298(Filamin/ABP280 repeat)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR017868|interpro:IPR029874|interpro:IPR036872|interpro:IPR044801|mint:O75369|rcsb pdb:2DI8|rcsb pdb:2DI9|rcsb pdb:2DIA|rcsb pdb:2DIB|rcsb pdb:2DIC|rcsb pdb:2DJ4|rcsb pdb:2DLG|rcsb pdb:2DMB|rcsb pdb:2DMC|rcsb pdb:2E9I|rcsb pdb:2E9J|rcsb pdb:2EE6|rcsb pdb:2EE9|rcsb pdb:2EEA|rcsb pdb:2EEB|rcsb pdb:2EEC|rcsb pdb:2EED|rcsb pdb:2WA5|rcsb pdb:2WA6|rcsb pdb:2WA7|rcsb pdb:3FER|rcsb pdb:4B7L|rcsb pdb:5DCP|reactome:R-HSA-1169408|ensembl:ENSG00000136068(gene)|ensembl:ENST00000295956(transcript)|go:"GO:0001725"(stress fiber)|refseq:NP_001157789.1|refseq:NP_001157790.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:lsf6C/Vg0io7UhUi1Kapgwp0p5E9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75367 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2868511|uniprotkb:Q7Z5E3|uniprotkb:Q9UP96|uniprotkb:Q9H8P3|uniprotkb:Q503A8|uniprotkb:O75377|uniprotkb:Q96D41|ensembl:ENSP00000423563|ensembl:ENSP00000424971 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2ay_human(display_long)|uniprotkb:MACROH2A1(gene name)|psi-mi:MACROH2A1(display_short)|uniprotkb:H2AFY(gene name synonym)|uniprotkb:Histone H2A.y(gene name synonym)|uniprotkb:Medulloblastoma antigen MU-MB-50.205(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011542031.1|refseq:XP_011542032.1|refseq:NP_001035248.1|refseq:NP_004884.1|refseq:NP_613075.1|refseq:NP_613258.2|dip:DIP-44283N|ensembl:ENSG00000113648(gene)|ensembl:ENST00000510038(transcript)|ensembl:ENST00000511689(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000182"(rDNA binding)|go:"GO:0000228"(nuclear chromosome)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000785"(chromatin)|go:"GO:0000786"(nucleosome)|go:"GO:0000793"(condensed chromosome)|go:"GO:0000976"(transcription cis-regulatory region binding)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0001739"(sex chromatin)|go:"GO:0001740"(Barr body)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005721"(pericentric heterochromatin)|go:"GO:0005730"(nucleolus)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0006342"|go:"GO:0007549"(dosage compensation)|go:"GO:0010385"(double-stranded methylated DNA binding)|go:"GO:0019216"(regulation of lipid metabolic process)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030291"(protein serine/threonine kinase inhibitor activity)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0031492"(nucleosomal DNA binding)|go:"GO:0033128"(negative regulation of histone phosphorylation)|go:"GO:0034184"(positive regulation of maintenance of mitotic sister chromatid cohesion)|go:"GO:0040029"(regulation of gene expression, epigenetic)|go:"GO:0045618"(positive regulation of keratinocyte differentiation)|go:"GO:0045814"(negative regulation of gene expression, epigenetic)|go:"GO:0000979"(RNA polymerase II core promoter sequence-specific DNA binding)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0051572"(negative regulation of histone H3-K4 methylation)|go:"GO:0061086"(negative regulation of histone H3-K27 methylation)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071169"(establishment of protein localization to chromatin)|go:"GO:0071901"(negative regulation of protein serine/threonine kinase activity)|go:"GO:1901837"(negative regulation of transcription of nucleolar large rRNA by RNA polymerase I)|go:"GO:1902750"(negative regulation of cell cycle G2/M phase transition)|go:"GO:1902882"(regulation of response to oxidative stress)|go:"GO:1902883"(negative regulation of response to oxidative stress)|go:"GO:1902884"(positive regulation of response to oxidative stress)|go:"GO:1903226"(positive regulation of endodermal cell differentiation)|go:"GO:1904815"(negative regulation of protein localization to chromosome, telomeric region)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:0045815"(epigenetic maintenance of chromatin in transcription-competent conformation)|interpro:IPR002589(Appr-1-p processing)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|interpro:IPR021171|interpro:IPR032454|interpro:IPR035796|interpro:IPR043472|mint:O75367|rcsb pdb:1U35|rcsb pdb:1ZR3|rcsb pdb:1ZR5|rcsb pdb:2F8N|rcsb pdb:2FXK|rcsb pdb:3HQH|rcsb pdb:3HSV|rcsb pdb:3IID|rcsb pdb:3IIF|rcsb pdb:3IVB|rcsb pdb:5IIT|rcsb pdb:5LNC|interpro:IPR002119(Histone H2A) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0FCoM0/4mTtnc7cPDUleKuZ3HgM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75362 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6597704|ensembl:ENSP00000304308|ensembl:ENSP00000360526|uniprotkb:E1P5Y6|uniprotkb:Q14DB8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn217_human(display_long)|uniprotkb:ZNF217(gene name)|psi-mi:ZNF217(display_short)|uniprotkb:ZABC1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000171940(gene)|ensembl:ENST00000302342(transcript)|ensembl:ENST00000371471(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000976"(transcription cis-regulatory region binding)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0016607"(nuclear speck)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|rcsb pdb:2HU2|rcsb pdb:3UK3|rcsb pdb:4F2J|rcsb pdb:4IS1|reactome:R-HSA-9018519|refseq:NP_006517.1|refseq:XP_016883548.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:E65TwYRj7QeQtQbTWV8q91QlwQk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O60884 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352957|ensembl:ENSP00000314030|uniprotkb:O14711|uniprotkb:B2R7L7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dnja2_human(display_long)|uniprotkb:DNAJA2(gene name)|psi-mi:DNAJA2(display_short)|uniprotkb:HIRIP4(gene name synonym)|uniprotkb:CPR3(gene name synonym)|uniprotkb:HIRA-interacting protein 4(gene name synonym)|uniprotkb:Cell cycle progression restoration gene 3 protein(gene name synonym)|uniprotkb:Dnj3(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-14(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000069345(gene)|ensembl:ENST00000317089(transcript)|go:"GO:0001671"(ATPase activator activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005829"(cytosol)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0009408"(response to heat)|go:"GO:0016020"(membrane)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0042026"(protein refolding)|go:"GO:0046872"(metal ion binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051087"(chaperone binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001305(Heat shock protein DnaJ, cysteine-rich region)|interpro:IPR001623(Heat shock protein DnaJ, N-terminal)|interpro:IPR002939(Chaperone DnaJ, C-terminal)|interpro:IPR008971(HSP40/DnaJ peptide-binding)|interpro:IPR012724(Chaperone DnaJ)|interpro:IPR036410|interpro:IPR036869|interpro:IPR044713|mint:O60884|reactome:R-HSA-3371497|interpro:IPR018253|refseq:NP_005871.1|dip:DIP-33143N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:c+JdHn0cKVKqRZCvK6DRYWs+zkQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O60315 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-717614|uniprotkb:A0JP09|uniprotkb:Q9UED1|uniprotkb:B7Z2P2|uniprotkb:F5H814|ensembl:ENSP00000386854|ensembl:ENSP00000454157|ensembl:ENSP00000487174 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zeb2_human(display_long)|uniprotkb:Zinc finger homeobox protein 1b(gene name synonym)|uniprotkb:Smad-interacting protein 1(gene name synonym)|uniprotkb:ZEB2(gene name)|psi-mi:ZEB2(display_short)|uniprotkb:KIAA0569(gene name synonym)|uniprotkb:SIP1(gene name synonym)|uniprotkb:ZFX1B(gene name synonym)|uniprotkb:HRIHFB2411(orf name)|uniprotkb:ZFHX1B(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001165124.1|refseq:NP_055610.1|ensembl:ENST00000409487(transcript)|ensembl:ENST00000558170(transcript)|ensembl:ENST00000627532(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|ensembl:ENSG00000169554(gene)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007399"(nervous system development)|go:"GO:0019208"(phosphatase regulator activity)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045636"(positive regulation of melanocyte differentiation)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|go:"GO:0048023"(positive regulation of melanin biosynthetic process)|go:"GO:0048066"(developmental pigmentation)|go:"GO:0048856"(anatomical structure development)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0097324"(melanocyte migration)|go:"GO:1903056"(regulation of melanosome organization)|interpro:IPR001356(Homeobox)|interpro:IPR008598(Drought induced 19)|interpro:IPR009057(Homeodomain-like)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|mint:O60315|rcsb pdb:2DA7|go:"GO:0030511"(positive regulation of transforming growth factor beta receptor signaling pathway)|refseq:XP_006712944.1|refseq:XP_006712945.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:KIKq943mmyO6wbsDamXsyo0OnEo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O43707 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351526|uniprotkb:O76048|uniprotkb:D6PXK4|ensembl:ENSP00000252699|ensembl:ENSP00000489220|uniprotkb:A4K467 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actn4_human(display_long)|uniprotkb:ACTN4(gene name)|psi-mi:ACTN4(display_short)|uniprotkb:Non-muscle alpha-actinin 4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004915.2|ensembl:ENSG00000130402(gene)|ensembl:ENSG00000282844(gene)|ensembl:ENST00000252699(transcript)|ensembl:ENST00000634960(transcript)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0001882"(nucleoside binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005925"(focal adhesion)|go:"GO:0015031"(protein transport)|go:"GO:0016604"(nuclear body)|go:"GO:0016922"(nuclear receptor binding)|go:"GO:0030050"(vesicle transport along actin filament)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0031093"(platelet alpha granule lumen)|go:"GO:0031143"(pseudopodium)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0032417"("positive regulation of sodium:proton antiporter activity")|go:"GO:0032991"(protein-containing complex)|go:"GO:0033209"(tumor necrosis factor-mediated signaling pathway)|go:"GO:0035357"(peroxisome proliferator activated receptor signaling pathway)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042974"(retinoic acid receptor binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0048384"(retinoic acid receptor signaling pathway)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051015"(actin filament binding)|go:"GO:0051272"(positive regulation of cellular component movement)|go:"GO:0070062"(extracellular exosome)|go:"GO:1900025"(negative regulation of substrate adhesion-dependent cell spreading)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1903506"(regulation of nucleic acid-templated transcription)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR014837(EF-hand, Ca insensitive)|interpro:IPR018159|interpro:IPR018247|interpro:IPR036872|mint:O43707|rcsb pdb:1WLX|rcsb pdb:1YDI|rcsb pdb:2R0O|rcsb pdb:6O31|rcsb pdb:6OA6|reactome:R-HSA-114608|reactome:R-HSA-373753|dip:DIP-33179N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kTYezA2lEtL/AQPfCQ8BE79nzow9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O43390 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-713419|uniprotkb:S4R3J4|uniprotkb:Q5TEH1|ensembl:ENSP00000304405|ensembl:ENSP00000363741|ensembl:ENSP00000489252|ensembl:ENSP00000489371|uniprotkb:Q9BV64|uniprotkb:Q2L7G6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hnrpr_human(display_long)|uniprotkb:HNRPR(gene name synonym)|uniprotkb:HNRNPR(gene name)|psi-mi:HNRNPR(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001095868.1|refseq:XP_005245768.1|ensembl:ENSG00000125944(gene)|ensembl:ENSG00000282958(gene)|ensembl:ENST00000302271(transcript)|ensembl:ENST00000374612(transcript)|ensembl:ENST00000634263(transcript)|ensembl:ENST00000634766(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0006397"(mRNA processing)|go:"GO:0007623"(circadian rhythm)|go:"GO:0030425"(dendrite)|go:"GO:0030426"(growth cone)|go:"GO:0043086"(negative regulation of catalytic activity)|go:"GO:0043679"(axon terminus)|go:"GO:0061157"(mRNA destabilization)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR006535(HnRNP R and Q splicing factor)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034411|interpro:IPR035979|mint:O43390|rcsb pdb:2DK2|reactome:R-HSA-72163|reactome:R-HSA-72203|interpro:IPR041337|refseq:NP_005817.1|refseq:XP_011538773.1|refseq:NP_001284549.1|refseq:XP_016855497.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:UiOaRbnMd1S2FthR4RWltyq6xT49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O43293 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-77293|uniprotkb:A0AVN4|uniprotkb:B3KQE2|uniprotkb:Q05JY4|ensembl:ENSP00000301264|ensembl:ENSP00000442973 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dapk3_human(display_long)|uniprotkb:DAPK3(gene name)|psi-mi:DAPK3(display_short)|uniprotkb:ZIPK(gene name synonym)|uniprotkb:DAP-like kinase(gene name synonym)|uniprotkb:Zipper-interacting protein kinase(gene name synonym)|uniprotkb:MYPT1 kinase(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001339.1|refseq:XP_005259565.1|ensembl:ENSG00000167657(gene)|ensembl:ENST00000301264(transcript)|ensembl:ENST00000545797(transcript)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005884"(actin filament)|go:"GO:0006325"(chromatin organization)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0006915"(apoptotic process)|go:"GO:0006940"(regulation of smooth muscle contraction)|go:"GO:0007088"(regulation of mitotic nuclear division)|go:"GO:0007346"(regulation of mitotic cell cycle)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008140"(cAMP response element binding protein binding)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0016605"(PML body)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0030182"(neuron differentiation)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0031267"(small GTPase binding)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043519"(regulation of myosin II filament organization)|go:"GO:0043522"(leucine zipper domain binding)|go:"GO:0045121"(membrane raft)|go:"GO:0046777"(protein autophosphorylation)|go:"GO:0051893"(regulation of focal adhesion assembly)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0097190"(apoptotic signaling pathway)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|go:"GO:2000145"(regulation of cell motility)|go:"GO:2000249"(regulation of actin cytoskeleton reorganization)|go:"GO:2001241"(positive regulation of extrinsic apoptotic signaling pathway in absence of ligand)|interpro:IPR000719(Protein kinase, core)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR042870|mint:O43293|rcsb pdb:1YRP|rcsb pdb:2J90|rcsb pdb:3BHY|rcsb pdb:3BQR|rcsb pdb:5A6N|rcsb pdb:5A6O|rcsb pdb:5VJA|reactome:R-HSA-418889 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:s8wsdvHltjaM7k0sJRNSjpXVpwM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O43166 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-310678|uniprotkb:O95321|uniprotkb:Q9UDU4|uniprotkb:Q9UNU4|intact:EBI-11025469|intact:EBI-28973250|uniprotkb:J3KP19|ensembl:ENSP00000450832 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:si1l1_human(display_long)|uniprotkb:SIPA1L1(gene name)|psi-mi:SIPA1L1(display_short)|uniprotkb:E6TP1(gene name synonym)|uniprotkb:KIAA0440(gene name synonym)|uniprotkb:High-risk human papilloma viruses E6 oncoproteins targeted protein 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000358550|ensembl:ENSP00000351352|ensembl:ENST00000381232|ensembl:ENSP00000370630|ensembl:ENSP00000450832|refseq:NP_001271174.1|refseq:NP_001271175.1|refseq:NP_056371.1|refseq:XP_005267573.1|refseq:XP_011534932.1|refseq:XP_011534933.1|refseq:XP_011534934.1|refseq:XP_011534937.1|refseq:XP_016876648.1|refseq:XP_016876649.1|refseq:XP_016876650.1|refseq:XP_016876651.1|refseq:XP_016876652.1|refseq:XP_016876653.1|refseq:XP_016876654.1|refseq:XP_016876655.1|refseq:XP_016876656.1|refseq:XP_016876657.1|refseq:XP_016876658.1|refseq:XP_016876659.1|refseq:XP_016876660.1|refseq:XP_016876661.1|refseq:XP_016876662.1|refseq:XP_016876663.1|refseq:XP_016876664.1|refseq:XP_016876665.1|refseq:XP_016876666.1|refseq:XP_016876667.1|refseq:XP_016876668.1|refseq:XP_016876669.1|refseq:XP_016876675.1|refseq:XP_016876676.1|refseq:XP_016876677.1|refseq:XP_016876678.1|refseq:XP_016876679.1|refseq:XP_016876680.1|refseq:XP_016876681.1|refseq:XP_016876682.1|ensembl:ENSG00000197555(gene)|ensembl:ENST00000555818(transcript)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0043087"(regulation of GTPase activity)|go:"GO:0043197"(dendritic spine)|go:"GO:0046875"(ephrin receptor binding)|go:"GO:0048013"(ephrin receptor signaling pathway)|go:"GO:0048167"(regulation of synaptic plasticity)|go:"GO:0048814"(regulation of dendrite morphogenesis)|go:"GO:0050770"(regulation of axonogenesis)|go:"GO:0051056"(regulation of small GTPase mediated signal transduction)|go:"GO:0061001"(regulation of dendritic spine morphogenesis)|go:"GO:0090630"(activation of GTPase activity)|interpro:IPR000331(Rap/ran-GAP)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR021818|interpro:IPR030770|interpro:IPR035974|interpro:IPR036034|mint:O43166|reactome:R-HSA-6794361 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:whpEjAhxfeYqeZ1IbjNl6romgXk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15523 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2462220|uniprotkb:Q8IYV7|uniprotkb:B4DK29|uniprotkb:B4DXX7|ensembl:ENSP00000336725|ensembl:ENSP00000353284 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ddx3y_human(display_long)|uniprotkb:DDX3Y(gene name)|psi-mi:DDX3Y(display_short)|uniprotkb:DBY(gene name synonym)|uniprotkb:DEAD box protein 3, Y-chromosomal(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001116137.1|refseq:NP_004651.2|refseq:NP_001289481.1|ensembl:ENSG00000067048(gene)|ensembl:ENST00000336079(transcript)|ensembl:ENST00000360160(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007276"(gamete generation)|go:"GO:0016020"(membrane)|go:"GO:0030154"(cell differentiation)|go:"GO:0043186"(P granule)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR000629(RNA helicase, ATP-dependent, DEAD-box, conserved site)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR014014(RNA helicase, DEAD-box type, Q motif)|interpro:IPR027417|mint:O15523 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dYhBr9Igq5eMq9U8g+c30nfdaKo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15511 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352975|uniprotkb:A6NEC4|uniprotkb:Q6PG42|ensembl:ENSP00000352918 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arpc5_human(display_long)|uniprotkb:ARPC5(gene name)|psi-mi:ARPC5(display_short)|uniprotkb:ARC16(gene name synonym)|uniprotkb:Arp2/3 complex 16 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005708.1|refseq:NP_001257368.1|dip:DIP-33144N|ensembl:ENSG00000162704(gene)|ensembl:ENST00000359856(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005768"(endosome)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0014909"(smooth muscle cell migration)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016477"(cell migration)|go:"GO:0021769"(orbitofrontal cortex development)|go:"GO:0030011"(maintenance of cell polarity)|go:"GO:0030027"(lamellipodium)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0030426"(growth cone)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0035861"(site of double-strand break)|go:"GO:0051639"(actin filament network formation)|go:"GO:0061842"(microtubule organizing center localization)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097581"(lamellipodium organization)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR006789("ARP2/3 complex 16 kDa subunit (p16-Arc)")|interpro:IPR036743|mint:O15511|rcsb pdb:6UHC|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-6798695|reactome:R-HSA-8856828|reactome:R-HSA-9664422 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kfZQK6CXdREnQNI1h+GlQpB/gPI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15400 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-3221827|ensembl:ENSP00000356918|uniprotkb:Q5SZW2|uniprotkb:Q96ES9|uniprotkb:E1P579 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:stx7_human(display_long)|uniprotkb:STX7(gene name)|psi-mi:STX7(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000079950(gene)|ensembl:ENST00000367941(transcript)|go:"GO:0000149"(SNARE binding)|go:"GO:0001772"(immunological synapse)|go:"GO:0001916"(positive regulation of T cell mediated cytotoxicity)|go:"GO:0005484"(SNAP receptor activity)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005770"(late endosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006906"(vesicle fusion)|go:"GO:0008021"(synaptic vesicle)|go:"GO:0012505"(endomembrane system)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019869"(chloride channel inhibitor activity)|go:"GO:0019905"(syntaxin binding)|go:"GO:0030139"(endocytic vesicle)|go:"GO:0031201"(SNARE complex)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031982"(vesicle)|go:"GO:0042582"(azurophil granule)|go:"GO:0048278"(vesicle docking)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051640"(organelle localization)|go:"GO:0055037"(recycling endosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070820"(tertiary granule)|go:"GO:0070925"(organelle assembly)|go:"GO:1902685"(positive regulation of receptor localization to synapse)|go:"GO:1903076"(regulation of protein localization to plasma membrane)|interpro:IPR000727(Target SNARE coiled-coil region)|interpro:IPR006011(Syntaxin, N-terminal)|interpro:IPR006012(Syntaxin/epimorphin, conserved site)|interpro:IPR010989(t-SNARE)|mint:O15400|refseq:XP_011534480.1|refseq:NP_003560.2|refseq:NP_001313507.1|refseq:NP_001313508.1|refseq:NP_001313509.1|dip:DIP-57384N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:lFaq26g0qeP7ObMMKexuZamQgps9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15260 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1044848|uniprotkb:O60923|uniprotkb:Q9UNZ0|uniprotkb:Q9UNZ1|uniprotkb:Q5T8U6|ensembl:ENSP00000361057|ensembl:ENSP00000486049|uniprotkb:B7Z6A4 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:surf4_human(display_long)|uniprotkb:SURF4(gene name)|psi-mi:SURF4(display_short)|uniprotkb:SURF-4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_149351.1|ensembl:ENSG00000148248(gene)|ensembl:ENSG00000280951(gene)|ensembl:ENST00000629578(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0007030"(Golgi organization)|go:"GO:0010638"(positive regulation of organelle organization)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030133"(transport vesicle)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0035577"(azurophil granule membrane)|interpro:IPR002995(Surfeit locus 4)|mint:O15260|reactome:R-HSA-6798695|reactome:R-HSA-6811434|ensembl:ENST00000371989(transcript)|refseq:NP_001267718.1|refseq:NP_001267721.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VEkKSEfWLmSZx209HLRfoMMTzsg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15145 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351829|uniprotkb:O00554|ensembl:ENSP00000228825 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arpc3_human(display_long)|uniprotkb:ARPC3(gene name)|psi-mi:ARPC3(display_short)|uniprotkb:ARC21(gene name synonym)|uniprotkb:Arp2/3 complex 21 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000111229(gene)|ensembl:ENST00000228825(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0030027"(lamellipodium)|go:"GO:0031941"(filamentous actin)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0061850"(growth cone leading edge)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070358"(actin polymerization-dependent cell motility)|go:"GO:1990090"(cellular response to nerve growth factor stimulus)|interpro:IPR007204(ARP2/3 complex, 21 kDa p21-Arc subunit)|interpro:IPR036753|mint:O15145|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|refseq:NP_001274151.1|refseq:NP_001265485.1|dip:DIP-33187N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:u4h1270mPo3E3GBrEurYtpUYTQM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15144 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352356|uniprotkb:Q92801|uniprotkb:Q9P1D4|ensembl:ENSP00000295685|ensembl:ENSP00000327137 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arpc2_human(display_long)|uniprotkb:ARPC2(gene name)|psi-mi:ARPC2(display_short)|uniprotkb:ARC34(gene name synonym)|uniprotkb:PRO2446(orf name)|uniprotkb:Arp2/3 complex 34 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005722.1|refseq:NP_690601.1|go:"GO:0005925"(focal adhesion)|go:"GO:0010592"(positive regulation of lamellipodium assembly)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0036195"(muscle cell projection membrane)|go:"GO:0043005"(neuron projection)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070358"(actin polymerization-dependent cell motility)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1900026"(positive regulation of substrate adhesion-dependent cell spreading)|interpro:IPR007188(Arp2/3 complex, 34kDa subunit p34-Arc)|interpro:IPR034666|mint:O15144|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|go:"GO:0005885"(Arp2/3 protein complex)|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|reactome:R-HSA-3928662|ensembl:ENSG00000163466(gene)|ensembl:ENST00000295685(transcript)|ensembl:ENST00000315717(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005768"(endosome)|go:"GO:0005829"(cytosol)|dip:DIP-33197N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:v5OozQTt614rvrBBoUavbAzjgZ49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15143 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1044647|uniprotkb:Q9BU00|ensembl:ENSP00000388802|ensembl:ENSP00000389631|ensembl:ENSP00000398110|ensembl:ENSP00000403211|ensembl:ENSP00000410238|ensembl:ENSP00000494033|ensembl:ENSP00000496599 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arc1b_human(display_long)|uniprotkb:Arp2/3 complex 41 kDa subunit(gene name synonym)|uniprotkb:p41-ARC(gene name synonym)|uniprotkb:ARPC1B(gene name)|psi-mi:ARPC1B(display_short)|uniprotkb:ARC41(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005711.1|ensembl:ENSG00000130429(gene)|ensembl:ENST00000427217(transcript)|ensembl:ENST00000431816(transcript)|ensembl:ENST00000451682(transcript)|ensembl:ENST00000455009(transcript)|ensembl:ENST00000458033(transcript)|ensembl:ENST00000645391(transcript)|ensembl:ENST00000646101(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0032355"(response to estradiol)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0036284"(tubulobulbar complex)|go:"GO:0043627"(response to estrogen)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR017383(Actin-related protein 2/3 complex, subunit 1)|interpro:IPR030141|interpro:IPR036322|mint:O15143|rcsb pdb:6UHC|rcsb pdb:6YW6|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-9664422|refseq:XP_006715888.1|refseq:XP_006715889.1|dip:DIP-41254N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:sx7R5hirSnqoXyOlW6ltrpNjUIs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15127 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-712703|uniprotkb:Q9BQE8|intact:EBI-28966746|ensembl:ENSP00000268099|uniprotkb:B2RDF0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:scam2_human(display_long)|uniprotkb:SCAMP2(gene name)|psi-mi:SCAMP2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000268099|ensembl:ENSG00000140497(gene)|ensembl:ENST00000268099(transcript)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0006892"(post-Golgi vesicle-mediated transport)|go:"GO:0015031"(protein transport)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030133"(transport vesicle)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0070062"(extracellular exosome)|interpro:IPR007273(SCAMP)|mint:O15127|refseq:NP_005688.2 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:wV3Omfpe2RLQlt8LYk8XUiuf20o9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14974 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351726|uniprotkb:Q2NKL4|uniprotkb:Q569H0|uniprotkb:Q86WU3|uniprotkb:Q8NFR6|uniprotkb:Q9BYH0|intact:EBI-28988491|uniprotkb:B4DZ09|uniprotkb:F8VWB4|ensembl:ENSP00000261207|ensembl:ENSP00000389168 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mypt1_human(display_long)|uniprotkb:PPP1R12A(gene name)|psi-mi:PPP1R12A(display_short)|uniprotkb:MBS(gene name synonym)|uniprotkb:MYPT1(gene name synonym)|uniprotkb:Myosin phosphatase-targeting subunit 1(gene name synonym)|uniprotkb:Protein phosphatase myosin-binding subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001137357.1|refseq:NP_001137358.1|refseq:NP_002471.1|refseq:NP_001231919.1|refseq:NP_001231921.1|refseq:XP_011536685.1|ensembl:ENSP00000261207|ensembl:ENST00000437004|ensembl:ENSP00000416769|ensembl:ENSP00000389168|ensembl:ENSP00000449514|ensembl:ENST00000550107|ensembl:ENSP00000446855|ensembl:ENST00000546369|dip:DIP-33186N|ensembl:ENSG00000058272(gene)|ensembl:ENST00000261207(transcript)|ensembl:ENST00000450142(transcript)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0000776"(kinetochore)|go:"GO:0004857"(enzyme inhibitor activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007098"(centrosome cycle)|go:"GO:0007165"(signal transduction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0019208"(phosphatase regulator activity)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030018"(Z disc)|go:"GO:0030155"(regulation of cell adhesion)|go:"GO:0031672"(A band)|go:"GO:0035507"(regulation of myosin-light-chain-phosphatase activity)|go:"GO:0035508"(positive regulation of myosin-light-chain-phosphatase activity)|go:"GO:0035690"|go:"GO:0043086"(negative regulation of catalytic activity)|go:"GO:0043292"(contractile fiber)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046822"(regulation of nucleocytoplasmic transport)|go:"GO:0071889"(14-3-3 protein binding)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|interpro:IPR002110(Ankyrin)|interpro:IPR017401(Protein phosphatase 1, regulatory subunits 12A/B/C, eukaryote)|interpro:IPR020683|interpro:IPR031775|interpro:IPR036770|mint:O14974|rcsb pdb:2KJY|rcsb pdb:5HUZ|reactome:R-HSA-2565942|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Xi5lGskc0tWQCHtbYlgR45ERMSk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14828 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-4401333|ensembl:ENSP00000307275|ensembl:ENSP00000461521|uniprotkb:A9Z1W6|uniprotkb:B1AVS6|uniprotkb:O15128|uniprotkb:Q96FR8|uniprotkb:Q9BPY0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:scam3_human(display_long)|uniprotkb:SCAMP3(gene name)|psi-mi:SCAMP3(display_short)|uniprotkb:C1orf3(gene name synonym)|uniprotkb:PROPIN1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000116521(gene)|ensembl:ENSG00000263290(gene)|ensembl:ENST00000302631(transcript)|ensembl:ENST00000570831(transcript)|go:"GO:0006892"(post-Golgi vesicle-mediated transport)|go:"GO:0015031"(protein transport)|go:"GO:0016021"(integral component of membrane)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0070062"(extracellular exosome)|interpro:IPR007273(SCAMP)|mint:O14828|ensembl:ENSP00000307275|ensembl:ENST00000355379|ensembl:ENSP00000347540|ensembl:ENSP00000461521|ensembl:ENST00000573013|ensembl:ENSP00000458542|refseq:NP_005689.2|refseq:NP_443069.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:q1GaoVa7cLS2hGHVUM5Nv2oX4x09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14744 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351098|uniprotkb:Q6IBR1|uniprotkb:A8MZ91|uniprotkb:Q9UKH1|uniprotkb:B5BU10|uniprotkb:D3DS33|ensembl:ENSP00000319169|uniprotkb:A8MTP3|uniprotkb:B4DX49|uniprotkb:B4DY30|uniprotkb:E2QRE7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:anm5_human(display_long)|uniprotkb:PRMT5(gene name)|psi-mi:PRMT5(display_short)|uniprotkb:IBP72(gene name synonym)|uniprotkb:JBP1(gene name synonym)|uniprotkb:HRMT1L5(gene name synonym)|uniprotkb:Shk1 kinase-binding protein 1 homolog(gene name synonym)|uniprotkb:Jak-binding protein 1(gene name synonym)|uniprotkb:72 kDa ICln-binding protein(gene name synonym)|uniprotkb:SKB1(gene name synonym)|uniprotkb:Histone-arginine N-methyltransferase PRMT5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001034708.1|refseq:NP_006100.2|refseq:NP_001269882.1|refseq:NP_001269884.1|refseq:NP_001269885.1|ensembl:ENSG00000100462(gene)|ensembl:ENST00000324366(transcript)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0000785"(chromatin)|go:"GO:0002039"(p53 binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006353"(DNA-templated transcription, termination)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0007088"(regulation of mitotic nuclear division)|go:"GO:0008168"(methyltransferase activity)|go:"GO:0008327"(methyl-CpG binding)|go:"GO:0008469"(histone-arginine N-methyltransferase activity)|go:"GO:0016274"(protein-arginine N-methyltransferase activity)|go:"GO:0018216"(peptidyl-arginine methylation)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0034709"(methylosome)|go:"GO:0034969"(histone arginine methylation)|go:"GO:0035097"(histone methyltransferase complex)|go:"GO:0035243"(protein-arginine omega-N symmetric methyltransferase activity)|go:"GO:0035246"(peptidyl-arginine N-methylation)|go:"GO:0042118"(endothelial cell activation)|go:"GO:0042802"(identical protein binding)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0043985"(histone H4-R3 methylation)|go:"GO:0044020"("histone methyltransferase activity (H4-R3 specific)")|go:"GO:0044030"(regulation of DNA methylation)|go:"GO:0045596"(negative regulation of cell differentiation)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|go:"GO:0070372"(regulation of ERK1 and ERK2 cascade)|go:"GO:0070888"(E-box binding)|go:"GO:0090161"(Golgi ribbon formation)|go:"GO:0097421"(liver regeneration)|go:"GO:1901796"(regulation of signal transduction by p53 class mediator)|interpro:IPR007857(Skb1 methyltransferase)|interpro:IPR025799|interpro:IPR029063|interpro:IPR035075|interpro:IPR035247|interpro:IPR035248|mint:O14744|rcsb pdb:4GQB|rcsb pdb:4X60|rcsb pdb:4X61|rcsb pdb:4X63|rcsb pdb:5C9Z|rcsb pdb:5EMJ|rcsb pdb:5EMK|rcsb pdb:5EML|rcsb pdb:5EMM|rcsb pdb:5FA5|rcsb pdb:6CKC|rcsb pdb:6K1S|rcsb pdb:6RLL|rcsb pdb:6RLQ|rcsb pdb:6UGH|rcsb pdb:6UXX|rcsb pdb:6UXY|rcsb pdb:6V0N|rcsb pdb:6V0O|rcsb pdb:6V0P|rcsb pdb:7KIB|rcsb pdb:7KIC|rcsb pdb:7KID|rcsb pdb:7L1G|rcsb pdb:7M05|reactome:R-HSA-191859|reactome:R-HSA-3214858|reactome:R-HSA-6804760|go:"GO:1904992"(positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway)|dip:DIP-33172N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:EwePjCDiU/fiuKOO+wnoYQ8I57I9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O00567 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-396034|uniprotkb:Q2M3T6|uniprotkb:Q9NQ05|ensembl:ENSP00000370589 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nop56_human(display_long)|uniprotkb:NOP56(gene name)|psi-mi:NOP56(display_short)|uniprotkb:NOL5A(gene name synonym)|uniprotkb:Nucleolar protein 5A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006383.2|ensembl:ENSG00000101361(gene)|ensembl:ENST00000329276(transcript)|go:"GO:0001650"(fibrillar center)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005732"("sno(s)RNA-containing ribonucleoprotein complex")|go:"GO:0005737"(cytoplasm)|go:"GO:0006364"(rRNA processing)|go:"GO:0016020"(membrane)|go:"GO:0030515"(snoRNA binding)|go:"GO:0031428"(box C/D RNP complex)|go:"GO:0032040"(small-subunit processome)|go:"GO:0045296"(cadherin binding)|go:"GO:0070761"(pre-snoRNP complex)|go:"GO:1990226"(histone methyltransferase binding)|interpro:IPR002687(Pre-mRNA processing ribonucleoprotein, binding region)|interpro:IPR012974(NOP5, N-terminal)|interpro:IPR012976(NOSIC)|interpro:IPR036070|interpro:IPR042239|mint:O00567|reactome:R-HSA-390471|reactome:R-HSA-6790901|reactome:R-HSA-6791226 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nXIsxj5Spl+kflK0yGJFykVylmA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O00264 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1045534|uniprotkb:Q9UGJ9|ensembl:ENSP00000217971|uniprotkb:B7Z1L3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pgrc1_human(display_long)|uniprotkb:Dap1(gene name synonym)|uniprotkb:IZA(gene name synonym)|uniprotkb:PGRMC1(gene name)|psi-mi:PGRMC1(display_short)|uniprotkb:HPR6.6(gene name synonym)|uniprotkb:PGRMC(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001269550.1|ensembl:ENST00000217971(transcript)|go:"GO:0001540"(amyloid-beta binding)|go:"GO:0005496"(steroid binding)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006783"(heme biosynthetic process)|go:"GO:0012505"(endomembrane system)|go:"GO:0016020"(membrane)|go:"GO:0020037"(heme binding)|go:"GO:0030868"(smooth endoplasmic reticulum membrane)|go:"GO:0035579"(specific granule membrane)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043005"(neuron projection)|go:"GO:0043025"(neuronal cell body)|go:"GO:0044297"(cell body)|go:"GO:0045202"(synapse)|go:"GO:0046872"(metal ion binding)|interpro:IPR001199(Cytochrome b5)|interpro:IPR036400|mint:O00264|rcsb pdb:4X8Y|reactome:R-HSA-6798695|ensembl:ENSG00000101856(gene)|refseq:NP_006658.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fjKpwgj9042mPhLsvS/wu1wBEi89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0R3F1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044306|ensembl:ENSP00000473178 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0r3f1_human(display_long)|uniprotkb:HNRNPUL1(gene name)|psi-mi:HNRNPUL1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000105323(gene)|ensembl:ENST00000599614(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006396"(RNA processing)|go:"GO:0009615"(response to virus)|interpro:IPR001870("B302 (SPRY)-like")|interpro:IPR003877(SPla/RYanodine receptor SPRY)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR027025|interpro:IPR027417|interpro:IPR035778|interpro:IPR043136 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LSMBnEGtoXK7RlVzAhfAnd7PJUQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0R210 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044290|ensembl:ENSP00000472231 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0r210_human(display_long)|uniprotkb:RPS16(gene name)|psi-mi:RPS16(display_short)|uniprotkb:hCG_43353(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000105193(gene)|ensembl:ENST00000601655(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR000754(Ribosomal protein S9)|interpro:IPR014721(Ribosomal protein S5 domain 2-type fold)|interpro:IPR020568|interpro:IPR020574|refseq:NP_001308040.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:352K+mvQy1K1B0otuMQ3vCYjTfs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0R1Z5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044278|ensembl:ENSP00000482357|ensembl:ENSP00000472209 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0r1z5_human(display_long)|uniprotkb:MBOAT7(gene name)|psi-mi:MBOAT7(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000495279(transcript)|ensembl:ENST00000612092(transcript)|go:"GO:0016021"(integral component of membrane)|interpro:IPR004299(Membrane bound O-acyl transferase, MBOAT)|ensembl:ENSG00000125505(gene)|ensembl:ENSG00000275118(gene) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3P8rin6LPPJDyyhdRzHdE1U/ALw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0R117 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044265|ensembl:ENSP00000471584 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0r117_human(display_long)|uniprotkb:RPL18A(gene name)|psi-mi:RPL18A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000105640(gene)|ensembl:ENST00000600147(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR021138|interpro:IPR023573|interpro:IPR028877 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8SmNfN4PVIDCunGHH+Qogfm5f2U9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0R0P8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044235|ensembl:ENSP00000471367 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0r0p8_human(display_long)|uniprotkb:MYO9B(gene name)|psi-mi:MYO9B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000099331(gene)|ensembl:ENST00000594824(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0003779"(actin binding)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005829"(cytosol)|go:"GO:0007266"(Rho protein signal transduction)|go:"GO:0016459"(myosin complex)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0046872"(metal ion binding)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR000159(Ras-association)|interpro:IPR000198(RhoGAP)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002219(Protein kinase C, phorbol ester/diacylglycerol binding)|interpro:IPR008936(Rho GTPase activation protein)|interpro:IPR027417|interpro:IPR028557|interpro:IPR029071|interpro:IPR036023|interpro:IPR036961 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:+hdgrQMHg0aC6zFXtzuX3zmnfJI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:K7ELZ9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26879781|ensembl:ENSP00000466296 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k7elz9_human(display_long)|uniprotkb:NCLN(gene name)|psi-mi:NCLN(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000125912(gene)|ensembl:ENST00000592737(transcript)|go:"GO:0009966"(regulation of signal transduction)|go:"GO:0016021"(integral component of membrane)|interpro:IPR016574(Nicalin) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:MxW58em56mffMjAUkSn4FdY5wZY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:K7ELC7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26519491|ensembl:ENSP00000466019 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k7elc7_human(display_long)|uniprotkb:RPL27(gene name)|psi-mi:RPL27(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000131469(gene)|ensembl:ENST00000586277(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001141(Ribosomal protein L27e)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR018262|interpro:IPR038655|interpro:IPR041991 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:sY/e/2jPIUJK12kkFbmdm5zxboY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:K7ELC2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21351501|ensembl:ENSP00000466010 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k7elc2_human(display_long)|uniprotkb:RPS15(gene name)|psi-mi:RPS15(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000115268(gene)|ensembl:ENST00000593052(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|interpro:IPR002222(Ribosomal protein S19/S15)|interpro:IPR005713(Ribosomal protein S15, eukaryotic/archaeal)|interpro:IPR020934|interpro:IPR023575|go:"GO:0003723"(RNA binding)|refseq:NP_001295155.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ojF8M6L9TAZbpoLsx23wauz3djs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3QRS3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044220|ensembl:ENSP00000464359 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3qrs3_human(display_long)|uniprotkb:MYL12A(gene name)|psi-mi:MYL12A(display_short)|uniprotkb:MRCL3(gene name synonym)|uniprotkb:hCG_2045956(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000101608(gene)|ensembl:ENST00000580887(transcript)|go:"GO:0005509"(calcium ion binding)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR015070(Region of unknown function DUF1880)|interpro:IPR018247|refseq:NP_001289978.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fnNK4lFewoss1VURWAwiP4XRPqI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3QLI9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26955521|ensembl:ENSP00000463568 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3qli9_human(display_long)|uniprotkb:SNRPD1(gene name)|psi-mi:SNRPD1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000167088(gene)|ensembl:ENST00000582475(transcript)|go:"GO:0006397"(mRNA processing)|interpro:IPR010920(Like-Sm ribonucleoprotein-related, core)|interpro:IPR027141 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:+ZY15c++RXF+wMY8JKgGr860JFE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KTL2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11019035|ensembl:ENSP00000463042 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3ktl2_human(display_long)|uniprotkb:SRSF1(gene name)|psi-mi:SRSF1(display_short)|uniprotkb:SFRS1(gene name synonym)|uniprotkb:Splicing factor, arginine/serine-rich 1(gene name synonym)|uniprotkb:hCG_1774411(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000136450(gene)|ensembl:ENST00000584773(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034520|interpro:IPR035979 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:K/tK4jD9609MsTb53X3c43wTR+49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KTE4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044197|ensembl:ENSP00000462938|ensembl:ENSP00000464538 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3kte4_human(display_long)|uniprotkb:RPL19(gene name)|psi-mi:RPL19(display_short)|uniprotkb:hCG_31402(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000108298(gene)|ensembl:ENST00000579260(transcript)|ensembl:ENST00000582193(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|interpro:IPR000196(Ribosomal protein L19/L19e)|interpro:IPR015972(Ribosomal protein L19/L19e, domain 1)|interpro:IPR023638|interpro:IPR033935|interpro:IPR035970|interpro:IPR039547|refseq:NP_001317129.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dWWvlwafnDx2VZf33AQNK2OYgZ89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KT73 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26961988|ensembl:ENSP00000462837 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3kt73_human(display_long)|uniprotkb:RPL38(gene name)|psi-mi:RPL38(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000172809(gene)|ensembl:ENST00000534490(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR002675(Ribosomal protein L38e)|interpro:IPR038464 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:CN9dHx7lkNFs079hgSz/plPOHA89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KRX5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044183|ensembl:ENSP00000462203 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3krx5_human(display_long)|uniprotkb:RPL17(gene name)|psi-mi:RPL17(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000265681(gene)|ensembl:ENST00000583637(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0006412"(translation)|go:"GO:0015934"(large ribosomal subunit)|interpro:IPR001063(Ribosomal protein L22/L17)|interpro:IPR018260|interpro:IPR036394|interpro:IPR005721(Ribosomal protein L22/L17, eukaryotic/archaeal) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:1AdD2EtesCPZ9VXQOU5UauzxscY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KN67 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11062266|ensembl:ENSP00000271850 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3kn67_human(display_long)|uniprotkb:TPM3(gene name)|psi-mi:TPM3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000143549(gene)|ensembl:ENST00000271850(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005829"(cytosol)|go:"GO:0015629"(actin cytoskeleton)|interpro:IPR000533(Tropomyosin)|interpro:IPR014751(DNA double-strand break repair and VJ recombination XRCC4, C-terminal) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ORwA4GnzWM5y+kswG/juzD+ai8M9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KMX5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044170|ensembl:ENSP00000228140 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3kmx5_human(display_long)|uniprotkb:RPS13(gene name)|psi-mi:RPS13(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000110700(gene)|ensembl:ENST00000228140(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR009068(S15/NS1, RNA-binding)|interpro:IPR012606(Ribosomal protein S13/S15, N-terminal)|interpro:IPR023029 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:zRRsyS26ngXn/K/pgzYMMitocQQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:I3L1L3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26955034|ensembl:ENSP00000458919 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:i3l1l3_human(display_long)|uniprotkb:MYBBP1A(gene name)|psi-mi:MYBBP1A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005730"(nucleolus)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0043231"(intracellular membrane-bounded organelle)|interpro:IPR007015(DNA polymerase V)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR016024(Armadillo-type fold)|ensembl:ENSG00000132382(gene)|ensembl:ENST00000573116(transcript)|go:"GO:0003677"(DNA binding) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nINs4THVlRPw4Bpgit3pSmMPghA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:I3L0N3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10977666|ensembl:ENSP00000458221|ensembl:ENSP00000486150|ensembl:ENSP00000488015 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:i3l0n3_human(display_long)|uniprotkb:NSF(gene name)|psi-mi:NSF(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000073969(gene)|ensembl:ENSG00000276262(gene)|ensembl:ENSG00000278174(gene)|ensembl:ENST00000575068(transcript)|ensembl:ENST00000631254(transcript)|ensembl:ENST00000632125(transcript)|go:"GO:0005524"(ATP binding)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0015031"(protein transport)|go:"GO:0035494"(SNARE complex disassembly)|go:"GO:0046872"(metal ion binding)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR003338(AAA ATPase VAT, N-terminal)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR003959(AAA ATPase, core)|interpro:IPR003960(AAA ATPase, conserved site)|interpro:IPR004201(Cell division protein 48, CDC48, domain 2)|interpro:IPR009010(Aspartate decarboxylase-like fold)|interpro:IPR027417|interpro:IPR029067|interpro:IPR039812|interpro:IPR041569 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:vTGJqUJzbI+rWNNxpf9tvbqRGCk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H7C4G5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044147|ensembl:ENSP00000417254|ensembl:ENSP00000494625 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h7c4g5_human(display_long)|uniprotkb:RUVBL1(gene name)|psi-mi:RUVBL1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000175792(gene)|ensembl:ENSG00000284901(gene)|ensembl:ENST00000478892(transcript)|ensembl:ENST00000646091(transcript)|go:"GO:0005524"(ATP binding)|go:"GO:0006281"(DNA repair)|go:"GO:0006310"(DNA recombination)|go:"GO:0031011"(Ino80 complex)|go:"GO:0035267"(NuA4 histone acetyltransferase complex)|go:"GO:0043139"(5'-3' DNA helicase activity)|go:"GO:0097255"(R2TP complex)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR010339(TIP49, C-terminal)|interpro:IPR027238|interpro:IPR027417|interpro:IPR037938|interpro:IPR041048 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8HeMZJQqrpcz+NCNDn9uazpGM2w9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H7C469 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044136|ensembl:ENSP00000415840 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h7c469_human(display_long) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000250644(gene)|ensembl:ENST00000427721(transcript)|go:"GO:0004190"(aspartic-type endopeptidase activity)|interpro:IPR001461(Peptidase A1)|interpro:IPR001969(Peptidase aspartic, active site)|interpro:IPR021109|interpro:IPR033121 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:j0Sjvj81XUQ7dF1axDG04PlAjKc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H7C144 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044116|ensembl:ENSP00000398393 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h7c144_human(display_long)|uniprotkb:ACTN4(gene name)|psi-mi:ACTN4(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000130402(gene)|ensembl:ENST00000440400(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005829"(cytosol)|go:"GO:0016604"(nuclear body)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR014837(EF-hand, Ca insensitive)|interpro:IPR018159|interpro:IPR036872|refseq:NP_001308962.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:biSbufSD7bXeLjeKYfhxP7c61m89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H7BY10 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044099|ensembl:ENSP00000347969 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h7by10_human(display_long)|uniprotkb:RPL23A(gene name)|psi-mi:RPL23A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000198242(gene)|ensembl:ENST00000355731(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|go:"GO:0019843"(rRNA binding)|interpro:IPR001014(Ribosomal protein L23, conserved site)|interpro:IPR005633(Ribosomal protein L23/L25, N-terminal)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR012678(Ribosomal protein L23/L15e, core)|interpro:IPR013025(Ribosomal protein L25/L23)|interpro:IPR019985 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3SYm/Yzyn951evHw4XTMVIGZTNw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H3BPE1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11017948|ensembl:ENSP00000455274 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h3bpe1_human(display_long)|uniprotkb:MACF1(gene name)|psi-mi:MACF1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000127603(gene)|go:"GO:0003779"(actin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0008017"(microtubule binding)|go:"GO:0016020"(membrane)|go:"GO:0042995"(cell projection)|go:"GO:0045104"(intermediate filament cytoskeleton organization)|interpro:IPR001101(Plectin repeat)|interpro:IPR001452(Src homology-3)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR003108(Growth-arrest-specific protein 2)|interpro:IPR011992(EF-Hand type)|interpro:IPR018159|interpro:IPR018247|interpro:IPR035915|interpro:IPR036534|interpro:IPR036872|interpro:IPR041573|interpro:IPR041615|interpro:IPR043197|ensembl:ENST00000564288(transcript) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Tbj2Vjo+mBjKq45T/hWeiwxKC6c9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0YMV8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044086|ensembl:ENSP00000453764 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0ymv8_human(display_long)|uniprotkb:RPS27L(gene name)|psi-mi:RPS27L(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000185088(gene)|ensembl:ENST00000462430(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|go:"GO:0046872"(metal ion binding)|interpro:IPR000592(Ribosomal protein S27e)|interpro:IPR011332(Ribosomal protein, zinc-binding)|interpro:IPR023407 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3AbXLKRpXDf0lwKKyeHZqPytBjA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0YKD8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044074|ensembl:ENSP00000452763 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0ykd8_human(display_long)|uniprotkb:RPL28(gene name)|psi-mi:RPL28(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000108107(gene)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR002672(Ribosomal protein L28e)|interpro:IPR029004|ensembl:ENST00000560055(transcript) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/cQUq9bUZpECW04BDY36Sj3CZZg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y9K7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044065|ensembl:ENSP00000424440 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y9k7_human(display_long)|uniprotkb:SFPQ(gene name)|psi-mi:SFPQ(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000116560(gene)|ensembl:ENST00000470472(transcript)|interpro:IPR012975(NOPS) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GjeoCj8jwFmZsserDEdvsyWIWJY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y8U5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044054|ensembl:ENSP00000422148 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y8u5_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000159692(gene)|ensembl:ENST00000503594(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0051287"(NAD binding)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR036291 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dG9+NkN2Hz2zLny0A4dfZ3FidYg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y6E7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044041|ensembl:ENSP00000405117 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y6e7_human(display_long)|uniprotkb:RBMX(gene name)|psi-mi:RBMX(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000147274(gene)|ensembl:ENST00000419968(transcript)|go:"GO:0003723"(RNA binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR003954(RNA recognition, region 1)|interpro:IPR012604(RBM1CTR)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qwBtrHgoUSMYb3hfrWsqOdn/XiI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y4R2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043992|ensembl:ENSP00000393527 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y4r2_human(display_long)|uniprotkb:POR(gene name)|psi-mi:POR(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR008254(Flavodoxin/nitric oxide synthase)|interpro:IPR017927|interpro:IPR017938|interpro:IPR023173|interpro:IPR023208|interpro:IPR029039|interpro:IPR039261|interpro:IPR003097(FAD-binding, type 1)|ensembl:ENSG00000127948(gene)|ensembl:ENST00000447222(transcript)|go:"GO:0003958"(NADPH-hemoprotein reductase activity)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0010181"(FMN binding)|go:"GO:0016021"(integral component of membrane)|interpro:IPR001094(Flavodoxin-like)|interpro:IPR001433("Oxidoreductase FAD/NAD(P)-binding")|interpro:IPR001709(Flavoprotein pyridine nucleotide cytochrome reductase) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JR6aqf3WTORomSX7Sc8n8hqL6qI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y449 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043978|ensembl:ENSP00000389639 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y449_human(display_long)|uniprotkb:YBX1(gene name)|psi-mi:YBX1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000065978(gene)|ensembl:ENST00000436427(transcript)|go:"GO:0003676"(nucleic acid binding)|go:"GO:0005829"(cytosol)|go:"GO:0031965"(nuclear membrane)|go:"GO:0043231"(intracellular membrane-bounded organelle)|interpro:IPR002059(Cold-shock protein, DNA-binding)|interpro:IPR011129(Cold shock protein)|interpro:IPR012340(Nucleic acid-binding, OB-fold) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:OUB3u8EC8V4aEYnKPvFyxF/rGmQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y2S9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11030065|ensembl:ENSP00000317786 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y2s9_human(display_long)|uniprotkb:MPRIP(gene name)|psi-mi:MPRIP(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000133030(gene)|ensembl:ENST00000313485(transcript)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0005829"(cytosol) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8zQ06Dqyb8MrVdNyvRfBv6jFWsQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:G8JLB6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21357942|ensembl:ENSP00000327539 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:g8jlb6_human(display_long)|uniprotkb:HNRNPH1(gene name)|psi-mi:HNRNPH1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000169045(gene)|ensembl:ENST00000329433(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR012996(Zinc finger, CHHC-type)|interpro:IPR035979|refseq:XP_005265952.1|refseq:XP_005265953.1|refseq:XP_011532844.1|refseq:XP_011532846.1|refseq:XP_011532847.1|refseq:XP_011532848.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:SUyfrDnUyHSIh8tkTKJQSqp73Es9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:G8JLA2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043968|ensembl:ENSP00000293422 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:g8jla2_human(display_long)|uniprotkb:MYL6(gene name)|psi-mi:MYL6(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000092841(gene)|ensembl:ENST00000293422(transcript)|go:"GO:0005509"(calcium ion binding)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:DmQeuS5De47+dqOt/MKMhNDNnYE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:G5EA42 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043954|ensembl:ENSP00000437743 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:g5ea42_human(display_long)|uniprotkb:TMOD2(gene name)|psi-mi:TMOD2(display_short)|uniprotkb:hCG_1641013(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000128872(gene)|ensembl:ENST00000539962(transcript)|go:"GO:0005523"(tropomyosin binding)|go:"GO:0005856"(cytoskeleton)|go:"GO:0051694"(pointed-end actin filament capping)|interpro:IPR004934(Tropomodulin)|interpro:IPR030130|interpro:IPR032675 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3g8ht0Mt8pdmzFFEaK9O37v2jcc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:G3V1L9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10969999|ensembl:ENSP00000348416 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:g3v1l9_human(display_long)|uniprotkb:TJP1(gene name)|psi-mi:TJP1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000104067(gene)|ensembl:ENST00000356107(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0030054"(cell junction)|interpro:IPR000906(ZU5)|interpro:IPR001452(Src homology-3)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR005417(Zona occludens protein)|interpro:IPR005418(Zona occludens protein ZO-1)|interpro:IPR008144(Guanylate kinase)|interpro:IPR008145(Guanylate kinase/L-type calcium channel region)|interpro:IPR027417|interpro:IPR035597|interpro:IPR036028|interpro:IPR036034|refseq:NP_001317168.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JBbFQ8e+Bwgp1srXtX4HCReBVkU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F8W914 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043925|ensembl:ENSP00000384825 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f8w914_human(display_long)|uniprotkb:RTN4(gene name)|psi-mi:RTN4(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000115310(gene)|ensembl:ENST00000402434(transcript)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0016021"(integral component of membrane)|interpro:IPR003388(Reticulon) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:+4e5delKyrpUpAhVM+RMTwZbvtM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F8VZ49 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043907|ensembl:ENSP00000447782 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f8vz49_human(display_long)|uniprotkb:HNRNPA1(gene name)|psi-mi:HNRNPA1(display_short)|uniprotkb:hnRNP core protein A1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000135486(gene)|ensembl:ENST00000548688(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0006397"(mRNA processing)|go:"GO:0008380"(RNA splicing)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034803|interpro:IPR034845|interpro:IPR035979 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2kQY19sXEH7ONmWWNe96nZYsuD49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F8VYE8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043886|ensembl:ENSP00000448981 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f8vye8_human(display_long)|uniprotkb:PPP1CC(gene name)|psi-mi:PPP1CC(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000186298(gene)|ensembl:ENST00000550991(transcript)|go:"GO:0000164"(protein phosphatase type 1 complex)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005977"(glycogen metabolic process)|go:"GO:0046872"(metal ion binding)|go:"GO:0051301"(cell division)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|go:"GO:0106306"|go:"GO:0106307"|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR006186("Serine/threonine-specific protein phosphatase and bis(5-nucleosyl)-tetraphosphatase")|interpro:IPR029052|interpro:IPR031675|interpro:IPR037979 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:EBrlHzeyjZfe+nSqdttxrL78UMY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F8VQE1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043869|ensembl:ENSP00000450087 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f8vqe1_human(display_long)|uniprotkb:LIMA1(gene name)|psi-mi:LIMA1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000050405(gene)|ensembl:ENST00000552909(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030835"(negative regulation of actin filament depolymerization)|go:"GO:0046872"(metal ion binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0051017"(actin filament bundle assembly)|interpro:IPR001781(Zinc finger, LIM-type)|interpro:IPR028740 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/tX0u86VpKbqRRD9xVNx3yPmkzE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F5H6E2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043849|ensembl:ENSP00000437685 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f5h6e2_human(display_long)|uniprotkb:MYO1C(gene name)|psi-mi:MYO1C(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000197879(gene)|ensembl:ENST00000545534(transcript)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0016459"(myosin complex)|go:"GO:0016604"(nuclear body)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR010926(Myosin tail 2)|interpro:IPR027417|interpro:IPR036072|interpro:IPR036961 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HtLoTN1CwLk8DE71S9WSclJnYy09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F5H527 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043824|ensembl:ENSP00000444743 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f5h527_human(display_long)|uniprotkb:SSH2(gene name)|psi-mi:SSH2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000141298(gene)|ensembl:ENST00000540801(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0004725"(protein tyrosine phosphatase activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0008138"(protein tyrosine/serine/threonine phosphatase activity)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030837"(negative regulation of actin filament polymerization)|go:"GO:0106306"|go:"GO:0106307"|interpro:IPR000340(Protein-tyrosine phosphatase, dual specificity)|interpro:IPR000387(Protein-tyrosine phosphatase)|interpro:IPR014876(DEK C terminal)|interpro:IPR016130(Protein-tyrosine phosphatase, active site)|interpro:IPR020422|interpro:IPR029021|interpro:IPR043587|interpro:IPR043588|refseq:NP_001269058.1|refseq:XP_005258115.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qv9sogSADxE6dsjk4IkcV67fYks9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F5GY37 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043812|ensembl:ENSP00000440317 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f5gy37_human(display_long)|uniprotkb:PHB2(gene name)|psi-mi:PHB2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000215021(gene)|ensembl:ENST00000542912(transcript)|go:"GO:0005743"(mitochondrial inner membrane)|go:"GO:0005886"(plasma membrane)|interpro:IPR000163(Prohibitin)|interpro:IPR001107(Band 7 protein)|interpro:IPR036013 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IVA1GtTTkaCRYaYYvppmEzDv3rs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F2Z388 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043794|ensembl:ENSP00000362671|ensembl:ENSP00000437215|ensembl:ENSP00000486088|uniprotkb:H0Y3A0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f2z388_human(display_long)|uniprotkb:RPL35(gene name)|psi-mi:RPL35(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000136942(gene)|ensembl:ENST00000373570(transcript)|ensembl:ENST00000493018(transcript)|ensembl:ENST00000629845(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001854(Ribosomal protein L29)|interpro:IPR018254|interpro:IPR036049 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:NgDoZjLYptikVb/7OFyst20o40g9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PMP7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11080397|ensembl:ENSP00000366719 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pmp7_human(display_long)|uniprotkb:LMO7(gene name)|psi-mi:LMO7(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000136153(gene)|ensembl:ENST00000377499(transcript)|go:"GO:0023051"(regulation of signaling)|go:"GO:0030155"(regulation of cell adhesion)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR003096(SM22/calponin)|interpro:IPR029978|interpro:IPR031865|interpro:IPR036034|interpro:IPR036872 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2CICP/WW7wTUcq32G6+QZl2cLe49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PMI6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11068399|ensembl:ENSP00000434963 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pmi6_human(display_long)|uniprotkb:CLNS1A(gene name)|psi-mi:CLNS1A(display_short)|uniprotkb:Chloride conductance regulatory protein ICln(gene name synonym)|uniprotkb:Methylosome subunit pICln(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001298131.1|ensembl:ENSG00000074201(gene)|ensembl:ENST00000532069(transcript)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006821"(chloride transport)|go:"GO:0006884"(cell volume homeostasis)|go:"GO:0034709"(methylosome)|go:"GO:0034715"(pICln-Sm protein complex)|interpro:IPR003521(Nucleotide-sensitive chloride conductance regulator)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR039924 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Zu8snHJAxCmZMH7Kd7UdeRbjiUo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PKZ0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043777|ensembl:ENSP00000434535 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pkz0_human(display_long)|uniprotkb:RPL8(gene name)|psi-mi:RPL8(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR008991(Translation protein SH3-like)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR014726(Ribosomal protein L2, domain 3)|interpro:IPR022666|interpro:IPR022669|ensembl:ENSG00000161016(gene)|ensembl:ENST00000532702(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005737"(cytoplasm)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR002171(Ribosomal protein L2) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:zhxB5WvYK0K3beG3G/5IlG+bhHk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PJA7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043764|ensembl:ENSP00000433822 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pja7_human(display_long)|uniprotkb:BCLAF1(gene name)|psi-mi:BCLAF1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000029363(gene)|ensembl:ENST00000534269(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0006915"(apoptotic process)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:2001022"(positive regulation of response to DNA damage stimulus)|interpro:IPR026668|interpro:IPR029199 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:OW+9WzESkMkmDWF9PzNfj8EVkjw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PIM6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043746|ensembl:ENSP00000435753 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pim6_human(display_long)|uniprotkb:THY1(gene name)|psi-mi:THY1(display_short)|uniprotkb:Thy-1 membrane glycoprotein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000154096(gene)|ensembl:ENST00000524659(transcript)|go:"GO:0005178"(integrin binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0007155"(cell adhesion)|go:"GO:0030334"(regulation of cell migration)|go:"GO:0031225"(anchored component of membrane)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013106(Immunoglobulin V-set)|interpro:IPR013151(Immunoglobulin)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR033292|interpro:IPR036179 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:prdv0+esMfoQVZWuK7LrJv5YLtw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PDF6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25617580|ensembl:ENSP00000376130 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pdf6_human(display_long)|uniprotkb:MYO1B(gene name)|psi-mi:MYO1B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0016459"(myosin complex)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR010926(Myosin tail 2)|interpro:IPR027417|interpro:IPR036072|interpro:IPR036961|ensembl:ENSG00000128641(gene)|ensembl:ENST00000392316(transcript)|refseq:NP_001317166.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:9JCFYwbtYfIBwmEYVxkysQQZJ1E9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PB61 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6190851|ensembl:ENSP00000421592 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pb61_human(display_long)|uniprotkb:ALYREF(gene name)|psi-mi:ALYREF(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000183684(gene)|ensembl:ENST00000505490(transcript)|go:"GO:0003723"(RNA binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR025715|interpro:IPR035979|go:"GO:0016607"(nuclear speck)|refseq:NP_005773.3 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:1TYm+flGafmObpUMr0SV5tuEDR49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EX17 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25629100|ensembl:ENSP00000388806 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7ex17_human(display_long)|uniprotkb:EIF4B(gene name)|psi-mi:EIF4B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000063046(gene)|ensembl:ENST00000420463(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0033592"(RNA strand annealing activity)|go:"GO:0097010"(eukaryotic translation initiation factor 4F complex assembly)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR033107|interpro:IPR035979|refseq:NP_001287750.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:9fo1FxRRxiyIO6+6EqK+g1VexLg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EUT5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-13953808|ensembl:ENSP00000380065 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7eut5_human(display_long)|uniprotkb:GAPDH(gene name)|psi-mi:GAPDH(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000111640(gene)|ensembl:ENST00000396856(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0016620"(oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor)|go:"GO:0031965"(nuclear membrane)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0051287"(NAD binding)|interpro:IPR020828|interpro:IPR020829|interpro:IPR020830|interpro:IPR020831|interpro:IPR036291 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:9NNAye2VlyGd38IKdhtjHQXlPWo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7ETK0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25617761|ensembl:ENSP00000415549 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7etk0_human(display_long)|uniprotkb:RPS24(gene name)|psi-mi:RPS24(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138326(gene)|ensembl:ENST00000435275(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001976(Ribosomal protein S24e)|interpro:IPR012678(Ribosomal protein L23/L15e, core)|interpro:IPR018098|rcsb pdb:6ZVJ|rcsb pdb:7A09 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Pm8ixG9+zH0UJuOG2HDx6ALJtA09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7ERH2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043732|ensembl:ENSP00000429415 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7erh2_human(display_long)|uniprotkb:SKP1(gene name)|psi-mi:SKP1(display_short)|uniprotkb:S-phase kinase-associated protein 1(gene name synonym)|uniprotkb:p19skp1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000519321(transcript)|go:"GO:0006511"(ubiquitin-dependent protein catabolic process)|interpro:IPR001232(SKP1 component)|interpro:IPR011333(BTB/POZ fold)|interpro:IPR016072(SKP1 component, dimerisation)|interpro:IPR016073(SKP1 component, POZ)|interpro:IPR016897(E3 ubiquitin ligase, SCF complex, Skp subunit)|interpro:IPR036296|ensembl:ENSG00000113558(gene) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2JKDGjyQ6l0kgEV/AxvZLQViMQs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EQV9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11602732|ensembl:ENSP00000405590 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7eqv9_human(display_long)|uniprotkb:RPL15(gene name)|psi-mi:RPL15(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000174748(gene)|ensembl:ENST00000434031(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR000439(Ribosomal protein L15e)|interpro:IPR012678(Ribosomal protein L23/L15e, core)|interpro:IPR020925|interpro:IPR024794 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Dz0rovKu2Tp9y7hxxpZIUxiO6tk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7END7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043720|ensembl:ENSP00000386672 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7end7_human(display_long)|uniprotkb:RAB1A(gene name)|psi-mi:RAB1A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138069(gene)|ensembl:ENST00000409751(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:SO791iecoC4+QQ0u1z+zzyPNbcE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E5RI99 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11602717|ensembl:ENSP00000429483 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e5ri99_human(display_long)|uniprotkb:RPL30(gene name)|psi-mi:RPL30(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000156482(gene)|ensembl:ENST00000521726(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0022625"(cytosolic large ribosomal subunit)|interpro:IPR000231(Ribosomal protein L30e)|interpro:IPR004038(Ribosomal protein L7Ae/L30e/S12e/Gadd45)|interpro:IPR022991|interpro:IPR029064|interpro:IPR039109 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/XtNkobILICE8La679+Vydnf6cs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E5RHH1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043707|ensembl:ENSP00000429783 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e5rhh1_human(display_long)|uniprotkb:RPL26L1(gene name)|psi-mi:RPL26L1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000037241(gene)|ensembl:ENST00000519522(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0006412"(translation)|go:"GO:0015934"(large ribosomal subunit)|interpro:IPR005756(Ribosomal protein L26, eukaryotic/archaeal)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR014722(Translation protein SH3-like, subgroup) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZIXXrqIMOa2qfR0ZbMI9eZiD5A49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:D6RI06 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043697|ensembl:ENSP00000425972 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:d6ri06_human(display_long)|uniprotkb:OTUD4(gene name)|psi-mi:OTUD4(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000164164(gene)|ensembl:ENST00000514973(transcript)|go:"GO:0004843"(thiol-dependent deubiquitinase)|interpro:IPR003323(Ovarian tumour, otubain)|interpro:IPR038765 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:g7p9ns4WUzSDJU0nByTg1QCYynk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:D6RBV2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043686|ensembl:ENSP00000423998 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:d6rbv2_human(display_long)|uniprotkb:LMAN2(gene name)|psi-mi:LMAN2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000169223(gene)|ensembl:ENST00000515209(transcript)|go:"GO:0016020"(membrane)|interpro:IPR005052(Legume-like lectin)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR035664 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Lm1MuO6MqJf8FtLYmScGw74ExQ89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:D3YTB1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26962026|ensembl:ENSP00000412393 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:d3ytb1_human(display_long)|uniprotkb:RPL32(gene name)|psi-mi:RPL32(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000144713(gene)|ensembl:ENST00000457131(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001515(Ribosomal protein L32e)|interpro:IPR018263|interpro:IPR036351 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:G8plJkqXgk/i+lQizd4yiC2ZKRU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9JSC3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043676|ensembl:ENSP00000409675 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9jsc3_human(display_long)|uniprotkb:NCKIPSD(gene name)|psi-mi:NCKIPSD(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000213672(gene)|ensembl:ENST00000439518(transcript)|interpro:IPR001452(Src homology-3)|interpro:IPR035514|interpro:IPR036028 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3XWY/MkA+uOFFshHTNn4hbUrgxY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9JNW5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6190023|ensembl:ENSP00000420380 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9jnw5_human(display_long)|uniprotkb:RPL24(gene name)|psi-mi:RPL24(display_short)|uniprotkb:hCG_2023003(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000114391(gene)|ensembl:ENST00000469605(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|interpro:IPR000988(Ribosomal protein L24e)|interpro:IPR011017(TRASH)|interpro:IPR023442|interpro:IPR038630 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:OE53tm5RMpxZtGwHcVKogk9J89A9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9JI46 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26886966|ensembl:ENSP00000371659 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9ji46_human(display_long)|uniprotkb:LCORL(gene name)|psi-mi:LCORL(display_short)|uniprotkb:MLR1(gene name synonym)|uniprotkb:hCG_1660774(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000178177(gene)|ensembl:ENST00000382224(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|interpro:IPR007889(Helix-turn-helix, Psq)|interpro:IPR009057(Homeodomain-like) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:MjyD0+eCUk2Z4kCvL4l+Gl5goK09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9J719 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043662|ensembl:ENSP00000405832 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9j719_human(display_long)|uniprotkb:EBP(gene name)|psi-mi:EBP(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000147155(gene)|ensembl:ENST00000414061(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016125"(sterol metabolic process)|go:"GO:0047750"(cholestenol delta-isomerase activity)|interpro:IPR007905(Emopamil-binding)|interpro:IPR033118 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4AYU3y/kZhnZWaXfR9NIkV5OhOo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9J4Z3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26879112|ensembl:ENSP00000410240 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9j4z3_human(display_long)|uniprotkb:RPL37A(gene name)|psi-mi:RPL37A(display_short)|uniprotkb:hCG_16380(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000197756(gene)|ensembl:ENST00000456586(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR002674(Ribosomal protein L37ae)|interpro:IPR011331(Ribosomal protein L37ae/L37e, core)|interpro:IPR011332(Ribosomal protein, zinc-binding) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0nxdml251Ald69ggi8cUJOsn90U9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9IZL7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043650|ensembl:ENSP00000406673 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9izl7_human(display_long)|uniprotkb:NONO(gene name)|psi-mi:NONO(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000147140(gene)|ensembl:ENST00000454976(transcript)|go:"GO:0003723"(RNA binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034552|interpro:IPR035979 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kWXmoah6PiQlQNtRk+DirKLkzuM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9IZ89 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043642|ensembl:ENSP00000399048 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9iz89_human(display_long)|uniprotkb:SORBS2(gene name)|psi-mi:SORBS2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000154556(gene)|ensembl:ENST00000445343(transcript)|interpro:IPR003127(Sorbin-like) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0O9i7blbyJpjmHNmCResNDO8lZI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9IYT0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21264032|ensembl:ENSP00000400542 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9iyt0_human(display_long)|uniprotkb:DKC1(gene name)|psi-mi:DKC1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000130826(gene)|ensembl:ENST00000413910(transcript)|go:"GO:0001522"(pseudouridine synthesis)|go:"GO:0001650"(fibrillar center)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006396"(RNA processing)|go:"GO:0009982"(pseudouridine synthase activity)|interpro:IPR002501(tRNA pseudouridine synthase B, N-terminal)|interpro:IPR004802(Putative rRNA pseudouridine synthase)|interpro:IPR012960(DKCLD)|interpro:IPR020103|interpro:IPR036974 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JostiuQXQJjW7Ba14Z/GNsPFP089606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B7Z5C0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043628 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b7z5c0_human(display_long) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0006457"(protein folding)|go:"GO:0016020"(membrane)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0051082"(unfolded protein binding)|refseq:NP_001300968.1|interpro:IPR002939(Chaperone DnaJ, C-terminal)|interpro:IPR044713|interpro:IPR008971(HSP40/DnaJ peptide-binding)|interpro:IPR001305(Heat shock protein DnaJ, cysteine-rich region)|interpro:IPR036410 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:gjYhjF33Wii155TgzQ7dePPR8RU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B7Z371 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043618|uniprotkb:E7EX45 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b7z371_human(display_long) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005525"(GTP binding)|go:"GO:0005856"(cytoskeleton)|refseq:NP_001308425.1|interpro:IPR030379|interpro:IPR027417|interpro:IPR016491(Septin) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:TonnuoanHIXV4DxuA1A/rGoH/0k9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4E2S7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043612 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4e2s7_human(display_long) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005765"(lysosomal membrane)|go:"GO:0016021"(integral component of membrane)|interpro:IPR002000("Lysosome-associated membrane glycoprotein (Lamp)/CD68") intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qNwecn3k+DxaUSQxcOZnr1S2V7E9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DY08 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-5280071|ensembl:ENSP00000338095|ensembl:ENSP00000450548 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dy08_human(display_long)|uniprotkb:HNRNPC(gene name)|psi-mi:HNRNPC(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000092199(gene)|ensembl:ENST00000336053(transcript)|ensembl:ENST00000553753(transcript)|go:"GO:0003723"(RNA binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR017347(Heterogeneous nuclear ribonucleoprotein C, Raly)|interpro:IPR035979 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HcgkZx39n1zM/h/T3e/HHG21NEA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DXZ6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-9985395|ensembl:ENSP00000418097 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dxz6_human(display_long)|uniprotkb:FXR1(gene name)|psi-mi:FXR1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0003729"(mRNA binding)|go:"GO:0005829"(cytosol)|go:"GO:0006417"(regulation of translation)|go:"GO:0007517"(muscle organ development)|interpro:IPR004087(K Homology)|interpro:IPR004088(K Homology, type 1)|interpro:IPR008395(Agenet)|interpro:IPR022034|interpro:IPR032172|interpro:IPR032177|interpro:IPR036612|interpro:IPR040148|interpro:IPR040472|interpro:IPR041560|ensembl:ENST00000480918(transcript)|ensembl:ENSG00000114416(gene) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:CbhskuCtN/S/BnsCy6lkKc2/C2k9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DR61 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21356779|ensembl:ENSP00000418493 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dr61_human(display_long)|uniprotkb:SEC61A1(gene name)|psi-mi:SEC61A1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000058262(gene)|ensembl:ENST00000464451(transcript)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0015031"(protein transport)|go:"GO:0016021"(integral component of membrane)|interpro:IPR002208(SecY protein)|interpro:IPR019561|interpro:IPR023201|interpro:IPR030659 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5ImODrF8bnJT/CSqOJb1x6kK1iY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DR52 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21357538 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dr52_human(display_long) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0046982"(protein heterodimerization activity)|rcsb pdb:7BG9|interpro:IPR009072(Histone-fold)|interpro:IPR007125(Histone core)|interpro:IPR000558(Histone H2B) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:yuMvD088vLfoSAYLEcV3evV+1T09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DQU5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043598|ensembl:ENSP00000455567 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dqu5_human(display_long)|uniprotkb:RAB11A(gene name)|psi-mi:RAB11A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000103769(gene)|ensembl:ENST00000564910(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0034451"(centriolar satellite)|go:"GO:0043231"(intracellular membrane-bounded organelle)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JPUGNoSOQjP5SzewQQOF8g7Y9Ik9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DKM5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043584 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dkm5_human(display_long)|uniprotkb:Voltage-dependent anion-selective channel protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0008308"(voltage-gated anion channel activity)|go:"GO:0015288"(porin activity)|go:"GO:0046930"(pore complex)|refseq:NP_001311016.1|refseq:NP_001311018.1|refseq:NP_001311019.1|interpro:IPR023614|interpro:IPR001925(Porin, eukaryotic type)|interpro:IPR027246|interpro:IPR030277 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:DEoGSMgnm86c0ELbKMstAWABe4M9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DGU4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10988240|ensembl:ENSP00000495286|ensembl:ENSP00000495426|ensembl:ENSP00000495794|ensembl:ENSP00000496067|ensembl:ENSP00000496295|ensembl:ENSP00000411226|ensembl:ENSP00000494467|ensembl:ENSP00000494780|ensembl:ENSP00000495161 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dgu4_human(display_long)|uniprotkb:CTNNB1(gene name)|psi-mi:CTNNB1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_006713046.1|refseq:XP_006713047.1|ensembl:ENST00000453024(transcript)|ensembl:ENST00000642836(transcript)|ensembl:ENST00000644524(transcript)|ensembl:ENST00000644678(transcript)|ensembl:ENST00000645493(transcript)|ensembl:ENST00000645900(transcript)|ensembl:ENST00000646116(transcript)|ensembl:ENST00000646174(transcript)|ensembl:ENST00000646381(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0007155"(cell adhesion)|go:"GO:0045296"(cadherin binding)|interpro:IPR000225(Armadillo)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR013284(Beta-catenin)|interpro:IPR016024(Armadillo-type fold)|ensembl:ENSG00000168036(gene)|refseq:NP_001317658.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:xMPvObanWwXwUS0m+Wiifzf/7Jw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B1ANR0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-9977484|ensembl:ENSP00000361953 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b1anr0_human(display_long)|uniprotkb:PABPC4(gene name)|psi-mi:PABPC4(display_short)|uniprotkb:hCG_2031827(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000090621(gene)|ensembl:ENST00000372862(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005829"(cytosol)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR002004(Polyadenylate-binding protein/Hyperplastic disc protein)|interpro:IPR003954(RNA recognition, region 1)|interpro:IPR006515(Polyadenylate binding protein, human types 1, 2, 3, 4)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979|interpro:IPR036053 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:lStIyupVoR9Mly5sLWTobmGAZUk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B1AK88 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11897454|ensembl:ENSP00000401010 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b1ak88_human(display_long)|uniprotkb:CAPZB(gene name)|psi-mi:CAPZB(display_short)|uniprotkb:hCG_41078(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000077549(gene)|ensembl:ENST00000433834(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0008290"(F-actin capping protein complex)|go:"GO:0030017"(sarcomere)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0051016"(barbed-end actin filament capping)|interpro:IPR001698(F-actin capping protein, beta subunit)|interpro:IPR019771|interpro:IPR037282|interpro:IPR042276|interpro:IPR043175|refseq:NP_001269091.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:L1VAyy2Te2+ptydVZdFbk6Io0y09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B1AHF3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043572|ensembl:ENSP00000403439 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b1ahf3_human(display_long)|uniprotkb:CYB5R3(gene name)|psi-mi:CYB5R3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000100243(gene)|ensembl:ENST00000438270(transcript)|go:"GO:0016491"(oxidoreductase activity)|interpro:IPR001834("NADH:cytochrome b5 reductase (CBR)")|interpro:IPR008333(Oxidoreductase FAD-binding region)|interpro:IPR017927|interpro:IPR017938 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qCkGx5pdeY88/JKSB/YqQEa5t4Y9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B1AHD1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043555|ensembl:ENSP00000383989 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b1ahd1_human(display_long)|uniprotkb:SNU13(gene name)|psi-mi:SNU13(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000100138(gene)|ensembl:ENST00000402458(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005730"(nucleolus)|go:"GO:0042254"(ribosome biogenesis)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR002415(High mobility group-like nuclear protein)|interpro:IPR004037(Ribosomal protein L7Ae)|interpro:IPR004038(Ribosomal protein L7Ae/L30e/S12e/Gadd45)|interpro:IPR018492|interpro:IPR029064 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2p8xuCt5hB47fHrKCnjRPHbdymI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A8MUD9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11602746|ensembl:ENSP00000379729|ensembl:ENSP00000379730|ensembl:ENSP00000379731 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a8mud9_human(display_long)|uniprotkb:RPL7(gene name)|psi-mi:RPL7(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_006716526.1|ensembl:ENSG00000147604(gene)|ensembl:ENST00000396465(transcript)|ensembl:ENST00000396466(transcript)|ensembl:ENST00000396467(transcript)|go:"GO:0000463"("maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0022625"(cytosolic large ribosomal subunit)|interpro:IPR005998(Ribosomal protein L7, eukaryotic)|interpro:IPR012988(Ribosomal protein L30, N-terminal)|interpro:IPR016082(Ribosomal protein L30, C-terminal)|interpro:IPR018038|interpro:IPR035808|interpro:IPR036919|interpro:IPR039699 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZPGgv6gGXRetikv7sN95EYHryY89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A8MQB8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043524|ensembl:ENSP00000359508 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a8mqb8_human(display_long)|uniprotkb:FMR1(gene name)|psi-mi:FMR1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000102081(gene)|ensembl:ENST00000370477(transcript)|go:"GO:0000775"(chromosome, centromeric region)|go:"GO:0003729"(mRNA binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006397"(mRNA processing)|go:"GO:0006417"(regulation of translation)|go:"GO:0007399"(nervous system development)|go:"GO:0008380"(RNA splicing)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0030426"(growth cone)|go:"GO:0032433"(filopodium tip)|go:"GO:0042734"(presynaptic membrane)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0048471"(perinuclear region of cytoplasm)|interpro:IPR004087(K Homology)|interpro:IPR004088(K Homology, type 1)|interpro:IPR008395(Agenet)|interpro:IPR022034|interpro:IPR032196|interpro:IPR036612|interpro:IPR040148|interpro:IPR040472|interpro:IPR041560 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ufPoEV8KJ7kib9gc02zzKA63BV89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A6NMH8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043500|ensembl:ENSP00000370424 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a6nmh8_human(display_long)|uniprotkb:CD81(gene name)|psi-mi:CD81(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000110651(gene)|ensembl:ENST00000381036(transcript)|go:"GO:0016021"(integral component of membrane)|interpro:IPR008952(Tetraspanin)|interpro:IPR018499|interpro:IPR018503 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ko+/0Fr5Y5Y/YCmxJC1ss3ovLGw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A6NLM8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043489|ensembl:ENSP00000359102 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a6nlm8_human(display_long)|uniprotkb:SSR4(gene name)|psi-mi:SSR4(display_short)|uniprotkb:Translocon-associated protein subunit delta(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000180879(gene)|ensembl:ENST00000370085(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0016021"(integral component of membrane)|interpro:IPR008855(Translocon-associated) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GoRdb9VTYJlcUArLBQhFb7qBUKE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A2ABF8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043459|ensembl:ENSP00000382888|ensembl:ENSP00000400861|ensembl:ENSP00000403402|ensembl:ENSP00000364678 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a2abf8_human(display_long)|uniprotkb:EHMT2(gene name)|psi-mi:EHMT2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000204371(gene)|ensembl:ENSG00000206376(gene)|ensembl:ENSG00000227333(gene)|ensembl:ENSG00000236759(gene)|ensembl:ENST00000375528(transcript)|ensembl:ENST00000400008(transcript)|ensembl:ENST00000428442(transcript)|ensembl:ENST00000443951(transcript)|go:"GO:0002039"(p53 binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0008270"(zinc ion binding)|go:"GO:0016607"(nuclear speck)|go:"GO:0018024"(histone-lysine N-methyltransferase activity)|interpro:IPR001214(SET)|interpro:IPR002110(Ankyrin)|interpro:IPR007728(Pre-SET zinc-binding region)|interpro:IPR020683|interpro:IPR036770|interpro:IPR038034|interpro:IPR043550|refseq:NP_001276342.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:vnNB36vR3gboorCKaQqjdqUXXEo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P63261 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351292|uniprotkb:P02571|uniprotkb:P14104|uniprotkb:P99022|uniprotkb:Q5U032|uniprotkb:Q96E67|uniprotkb:A8K7C2|ensembl:ENSP00000505060|ensembl:ENSP00000505193|ensembl:ENSP00000505235|ensembl:ENSP00000506126|ensembl:ENSP00000506201|ensembl:ENSP00000506253|ensembl:ENSP00000458162|ensembl:ENSP00000458435|ensembl:ENSP00000459119|ensembl:ENSP00000459124|ensembl:ENSP00000460464|ensembl:ENSP00000460660|ensembl:ENSP00000461672|ensembl:ENSP00000466346|ensembl:ENSP00000477968 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actg_human(display_long)|uniprotkb:ACTG1(gene name)|psi-mi:ACTG1(display_short)|uniprotkb:ACTG(gene name synonym)|uniprotkb:Gamma-actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001186883.1|refseq:NP_001605.1|ensembl:ENST00000570382(transcript)|ensembl:ENSG00000184009(gene)|ensembl:ENST00000571721(transcript)|ensembl:ENST00000573283(transcript)|ensembl:ENST00000575087(transcript)|ensembl:ENST00000575659(transcript)|ensembl:ENST00000575842(transcript)|ensembl:ENST00000575994(transcript)|ensembl:ENST00000576544(transcript)|ensembl:ENST00000615544(transcript)|ensembl:ENST00000679480(transcript)|ensembl:ENST00000679778(transcript)|ensembl:ENST00000680227(transcript)|ensembl:ENST00000680727(transcript)|ensembl:ENST00000681052(transcript)|ensembl:ENST00000681842(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001738"(morphogenesis of a polarized epithelium)|go:"GO:0001895"(retina homeostasis)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005522"(profilin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0030016"(myofibril)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0031941"(filamentous actin)|go:"GO:0035633"(maintenance of blood-brain barrier)|go:"GO:0042802"(identical protein binding)|go:"GO:0043296"(apical junction complex)|go:"GO:0044305"(calyx of Held)|go:"GO:0045214"(sarcomere organization)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0048488"(synaptic vesicle endocytosis)|go:"GO:0051492"(regulation of stress fiber assembly)|go:"GO:0051893"(regulation of focal adhesion assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0072562"(blood microparticle)|go:"GO:0090303"(positive regulation of wound healing)|go:"GO:0097433"(dense body)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0098973"(structural constituent of postsynaptic actin cytoskeleton)|go:"GO:0120192"(tight junction assembly)|go:"GO:0120220"(basal body patch)|go:"GO:0150111"(regulation of transepithelial transport)|go:"GO:1902396"(protein localization to bicellular tight junction)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:P63261|rcsb pdb:5JLH|rcsb pdb:6CXI|rcsb pdb:6CXJ|rcsb pdb:6G2T|rcsb pdb:6V62|rcsb pdb:6V63|rcsb pdb:6WK1|rcsb pdb:6WK2|reactome:R-HSA-1445148|reactome:R-HSA-190873|reactome:R-HSA-196025|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-3928665|reactome:R-HSA-418990|reactome:R-HSA-437239|reactome:R-HSA-4420097|reactome:R-HSA-445095|reactome:R-HSA-446353|reactome:R-HSA-5626467|reactome:R-HSA-5663213|reactome:R-HSA-5663220|reactome:R-HSA-5674135|reactome:R-HSA-6802946|reactome:R-HSA-6802948|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-8856828|reactome:R-HSA-9013418|reactome:R-HSA-9649948|reactome:R-HSA-9656223|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9664422 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B2OOsE06lTfo90H3g8tlmUJQ7cY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y657 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-727129|uniprotkb:Q7KZJ8|uniprotkb:Q9GZT2|uniprotkb:Q9H0N7|uniprotkb:A8K0X6|uniprotkb:B3KRQ4|ensembl:ENSP00000365019 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:spin1_human(display_long)|uniprotkb:Ovarian cancer-related protein(gene name synonym)|uniprotkb:SPIN1(gene name)|psi-mi:SPIN1(display_short)|uniprotkb:OCR(gene name synonym)|uniprotkb:SPIN(gene name synonym)|uniprotkb:Spindlin1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006708.2|ensembl:ENSG00000106723(gene)|ensembl:ENST00000375859(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006325"(chromatin organization)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0007276"(gamete generation)|go:"GO:0009303"(rRNA transcription)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0030177"(positive regulation of Wnt signaling pathway)|go:"GO:0031965"(nuclear membrane)|go:"GO:0035064"(methylated histone binding)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0051321"(meiotic cell cycle)|interpro:IPR003671(Spindlin/spermiogenesis-specific protein)|interpro:IPR029565|interpro:IPR042567|mint:Q9Y657|rcsb pdb:2NS2|rcsb pdb:4H75|rcsb pdb:4MZF|rcsb pdb:4MZG|rcsb pdb:4MZH|rcsb pdb:5JSG|rcsb pdb:5JSJ|rcsb pdb:5Y5W|rcsb pdb:6I8B|rcsb pdb:6I8L|rcsb pdb:6I8Y|rcsb pdb:6QPL|rcsb pdb:7BQZ|rcsb pdb:7BU9|rcsb pdb:7CNA|dip:DIP-40062N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:OY/wCdms/yjDXj5aY2QffHXXXUY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y608 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1023718|uniprotkb:Q68CV3|uniprotkb:Q9NXH5|uniprotkb:A8K649|uniprotkb:A8MXR0|uniprotkb:B4DY63|ensembl:ENSP00000338727 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lrrf2_human(display_long)|uniprotkb:LRRFIP2(gene name)|psi-mi:LRRFIP2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001127841.1|refseq:NP_006300.1|refseq:NP_060194.1|refseq:XP_011532519.1|refseq:XP_011532520.1|refseq:XP_011532521.1|refseq:NP_001269620.1|ensembl:ENSG00000093167(gene)|ensembl:ENST00000336686(transcript)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0030275"(LRR domain binding)|interpro:IPR019139|mint:Q9Y608|refseq:XP_005265596.1|refseq:XP_005265597.1|refseq:XP_016862973.1|refseq:NP_001335239.1|refseq:NP_001335240.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ma/crL7UY91uJ8bqLfkX3K8aQLI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y5B9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1046849|uniprotkb:Q6GMT8|uniprotkb:Q6P2F1|uniprotkb:Q6PJM1|uniprotkb:Q9NRX0|ensembl:ENSP00000216297 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sp16h_human(display_long)|uniprotkb:Facilitates chromatin transcription complex subunit SPT16(gene name synonym)|uniprotkb:FACT 140 kDa subunit(gene name synonym)|uniprotkb:FACTp140(gene name synonym)|uniprotkb:Chromatin-specific transcription elongation factor 140 kDa subunit(gene name synonym)|uniprotkb:SUPT16H(gene name)|psi-mi:SUPT16H(display_short)|uniprotkb:FACT140(gene name synonym)|uniprotkb:FACTP140(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000092201(gene)|ensembl:ENST00000216297(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006260"(DNA replication)|go:"GO:0006281"(DNA repair)|go:"GO:0006337"(nucleosome disassembly)|go:"GO:0006366"(transcription by RNA polymerase II)|go:"GO:0006368"(transcription elongation from RNA polymerase II promoter)|go:"GO:0031491"(nucleosome binding)|go:"GO:0032786"(positive regulation of DNA-templated transcription, elongation)|go:"GO:0032968"(positive regulation of transcription elongation from RNA polymerase II promoter)|go:"GO:0034724"(DNA replication-independent chromatin organization)|go:"GO:0035101"(FACT complex)|interpro:IPR000994(Peptidase M24, catalytic core)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013719(Region of unknown function DUF1747, eukaryote)|interpro:IPR013953(FACT complex subunit Spt16p/Cdc68p)|interpro:IPR029148|interpro:IPR029149|interpro:IPR033825|interpro:IPR036005|interpro:IPR040258|mint:Q9Y5B9|rcsb pdb:4Z2M|rcsb pdb:4Z2N|rcsb pdb:5E5B|rcsb pdb:5UMT|rcsb pdb:5UMU|rcsb pdb:5XM2|rcsb pdb:6UPK|rcsb pdb:6UPL|reactome:R-HSA-112382|reactome:R-HSA-167152|reactome:R-HSA-167200|reactome:R-HSA-167238|reactome:R-HSA-167243|reactome:R-HSA-167246|reactome:R-HSA-167287|reactome:R-HSA-167290|reactome:R-HSA-674695|reactome:R-HSA-6796648|reactome:R-HSA-6804756|reactome:R-HSA-75955|refseq:NP_009123.1|dip:DIP-42757N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:jLK5dOF3mEyI0UbZhcNgtdlG+WI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y4K1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-5453777|uniprotkb:B4DU04|uniprotkb:O00296|uniprotkb:Q5VWJ2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:crbg1_human(display_long)|uniprotkb:CRYBG1(gene name)|psi-mi:CRYBG1(display_short)|uniprotkb:AIM1(gene name synonym)|uniprotkb:Absent in melanoma 1 protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001615.2|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR000772(Ricin B lectin)|rcsb pdb:2DAD|rcsb pdb:3CW3|interpro:IPR035992|rcsb pdb:6VRO|go:"GO:0030246"(carbohydrate binding) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:mdQxrU/fgkY/DzoaZsyeED+jPFk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y3U8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1057689|uniprotkb:Q6FIG1|uniprotkb:Q9UQF6|uniprotkb:B2R4Y1|uniprotkb:D6W634|ensembl:ENSP00000252543|ensembl:ENSP00000378081|ensembl:ENSP00000462609|ensembl:ENSP00000464342 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl36_human(display_long)|uniprotkb:RPL36(gene name)|psi-mi:RPL36(display_short)|uniprotkb:Large ribosomal subunit protein eL36(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_056229.2|refseq:NP_378669.1|reactome:R-HSA-975957|mint:Q9Y3U8|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|interpro:IPR038097|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|rcsb pdb:6Y6X|ensembl:ENSG00000130255(gene)|ensembl:ENST00000347512(transcript)|ensembl:ENST00000394580(transcript)|ensembl:ENST00000577222(transcript)|ensembl:ENST00000579649(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042788"(polysomal ribosome)|interpro:IPR000509(Ribosomal protein L36e) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:lRlRMF2jV/UHr4SX95SSCFIEV+s9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y3T9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-751547|uniprotkb:Q5SVA3|uniprotkb:Q9BTN6|ensembl:ENSP00000317992 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:noc2l_human(display_long)|uniprotkb:NOC2-like protein(gene name synonym)|uniprotkb:NOC2L(gene name)|psi-mi:NOC2L(display_short)|uniprotkb:NIR(gene name synonym)|uniprotkb:Novel INHAT repressor(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_056473.2|ensembl:ENSG00000188976(gene)|ensembl:ENST00000327044(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0002903"(negative regulation of B cell apoptotic process)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006915"(apoptotic process)|go:"GO:0030690"(Noc1p-Noc2p complex)|go:"GO:0030691"(Noc2p-Noc3p complex)|go:"GO:0031491"(nucleosome binding)|go:"GO:0031497"(chromatin assembly)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042273"(ribosomal large subunit biogenesis)|go:"GO:0042393"(histone binding)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:2001243"(negative regulation of intrinsic apoptotic signaling pathway)|interpro:IPR005343(Protein of unknown function UPF0120)|interpro:IPR016024(Armadillo-type fold)|mint:Q9Y3T9|reactome:R-HSA-6804756 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3QFBiahYEZ0/0O6A+SxvTO2kO0Y9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y3B3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2561467|ensembl:ENSP00000405926|uniprotkb:Q96K51|uniprotkb:Q8WUU6|intact:EBI-10990361|uniprotkb:Q8NBU8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tmed7_human(display_long)|uniprotkb:TMED7(gene name)|psi-mi:TMED7(display_short)|uniprotkb:CGI-109(orf name)|uniprotkb:p24 family protein gamma-3(gene name synonym)|uniprotkb:p27(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000134970(gene)|ensembl:ENST00000456936(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0007030"(Golgi organization)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030126"(COPI vesicle coat)|go:"GO:0030127"(COPII vesicle coat)|go:"GO:0030133"(transport vesicle)|go:"GO:0030134"(COPII-coated ER to Golgi transport vesicle)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|interpro:IPR009038(GOLD)|interpro:IPR015718(P24 related)|interpro:IPR015720(TMP21 related)|interpro:IPR036598|mint:Q9Y3B3|reactome:R-HSA-6807878|reactome:R-HSA-6811434|refseq:NP_001157941.1|refseq:NP_861974.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:A0B8TdJSOf63pd4GZ65i4VH/M8g9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y2W1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352039|uniprotkb:Q5VTK6|uniprotkb:D3DPS5|ensembl:ENSP00000346634|ensembl:ENSP00000433825 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tr150_human(display_long)|uniprotkb:BCLAF1 and THRAP3 family member 2(gene name synonym)|uniprotkb:BCLAF2(gene name synonym)|uniprotkb:THRAP3(gene name)|psi-mi:THRAP3(display_short)|uniprotkb:TRAP150(gene name synonym)|uniprotkb:Thyroid hormone receptor-associated protein complex 150 kDa component(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005110.2|ensembl:ENSG00000054118(gene)|ensembl:ENST00000354618(transcript)|ensembl:ENST00000469141(transcript)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000956"(nuclear-transcribed mRNA catabolic process)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0003677"(DNA binding)|go:"GO:0003712"(transcription coregulator activity)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006397"(mRNA processing)|go:"GO:0007623"(circadian rhythm)|go:"GO:0008380"(RNA splicing)|go:"GO:0016592"(mediator complex)|go:"GO:0016607"(nuclear speck)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0042753"(positive regulation of circadian rhythm)|go:"GO:0042809"(vitamin D receptor binding)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046966"(thyroid hormone receptor binding)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048255"(mRNA stabilization)|go:"GO:0051219"(phosphoprotein binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR026667|interpro:IPR029199|mint:Q9Y2W1|reactome:R-HSA-1989781|reactome:R-HSA-381340|refseq:NP_001308400.1|refseq:NP_001308402.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:pPyZVG1IXg/+QDpHngwzUX09cBM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y2D5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1754555|uniprotkb:Q9UG26|uniprotkb:B1ALX9|uniprotkb:B2RTU4|uniprotkb:B3KQ00|uniprotkb:B4DTZ2|uniprotkb:B7ZW07|uniprotkb:B9EJB5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:akap2_human(display_long)|uniprotkb:AKAP2(gene name)|psi-mi:AKAP2(display_short)|uniprotkb:KIAA0920(gene name synonym)|uniprotkb:Protein kinase A-anchoring protein 2(gene name synonym)|uniprotkb:AKAP-KL(gene name synonym)|uniprotkb:PRKA2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001004065.2|refseq:NP_001130034.1|refseq:NP_001185585.1|refseq:NP_009134.1|refseq:NP_671492.1|interpro:IPR029304 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:xfHb6tD0ToXJPHpl4MlbKczjzSg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y230 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352939|ensembl:ENSP00000473172|uniprotkb:Q6FIB9|uniprotkb:Q6PK27|uniprotkb:Q9Y361|uniprotkb:B3KQ59|uniprotkb:E7ETE5|intact:EBI-1058527 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ruvb2_human(display_long)|uniprotkb:RUVBL2(gene name)|psi-mi:RUVBL2(display_short)|uniprotkb:TIP48(gene name synonym)|uniprotkb:TIP49B(gene name synonym)|uniprotkb:CGI-46(orf name)|uniprotkb:48 kDa TATA box-binding protein-interacting protein(gene name synonym)|uniprotkb:TIP49b(gene name synonym)|uniprotkb:Repressing pontin 52(gene name synonym)|uniprotkb:51 kDa erythrocyte cytosolic protein(gene name synonym)|uniprotkb:INO80J(gene name synonym)|uniprotkb:TIP60-associated protein 54-beta(gene name synonym)|uniprotkb:INO80 complex subunit J(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1904874"(positive regulation of telomerase RNA localization to Cajal body)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR010339(TIP49, C-terminal)|interpro:IPR027238|interpro:IPR027417|interpro:IPR037942|interpro:IPR041048|interpro:IPR042487|mint:Q9Y230|rcsb pdb:2CQA|rcsb pdb:2XSZ|rcsb pdb:3UK6|rcsb pdb:5OAF|rcsb pdb:6FO1|rcsb pdb:6H7X|rcsb pdb:6HTS|rcsb pdb:6IGM|rcsb pdb:6K0R|rcsb pdb:6QI8|rcsb pdb:6QI9|rcsb pdb:7AHO|reactome:R-HSA-171319|go:"GO:0140585"(promoter-enhancer loop anchoring activity)|reactome:R-HSA-3214847|ensembl:ENSG00000183207(gene)|ensembl:ENST00000595090(transcript)|go:"GO:0000492"(box C/D snoRNP assembly)|go:"GO:0000791"(euchromatin)|go:"GO:0000812"(Swr1 complex)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000979"(RNA polymerase II core promoter sequence-specific DNA binding)|go:"GO:0001094"(TFIID-class transcription factor complex binding)|go:"GO:0003678"(DNA helicase activity)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0006281"(DNA repair)|go:"GO:0006310"(DNA recombination)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006457"(protein folding)|go:"GO:0008013"(beta-catenin binding)|go:"GO:0016020"(membrane)|go:"GO:0016363"(nuclear matrix)|go:"GO:0017025"(TBP-class protein binding)|go:"GO:0031011"(Ino80 complex)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035066"(positive regulation of histone acetylation)|go:"GO:0035267"(NuA4 histone acetyltransferase complex)|go:"GO:0040008"(regulation of growth)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043139"(5'-3' DNA helicase activity)|go:"GO:0043531"(ADP binding)|go:"GO:0043967"(histone H4 acetylation)|go:"GO:0043968"(histone H2A acetylation)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051117"(ATPase binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071169"(establishment of protein localization to chromatin)|go:"GO:0071339"(MLL1 complex)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:0016573"(histone acetylation)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:0097255"(R2TP complex)|go:"GO:0120293"(dynein axonemal particle)|refseq:NP_006657.1|refseq:XP_011524632.1|refseq:NP_001308120.1|dip:DIP-28153N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:APKAWLDCJVULUP3nzqIaSLHKVN49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UQ03 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-723376|uniprotkb:O94767|uniprotkb:Q8TAN1|uniprotkb:A8K0W3|ensembl:ENSP00000261861 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cor2b_human(display_long)|uniprotkb:Coronin-like protein C(gene name synonym)|uniprotkb:Protein FC96(gene name synonym)|uniprotkb:CORO2B(gene name)|psi-mi:CORO2B(display_short)|uniprotkb:KIAA0925(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001177385.1|refseq:NP_001177386.1|refseq:NP_006082.3|refseq:NP_001310943.1|refseq:NP_001310944.1|ensembl:ENSG00000103647(gene)|ensembl:ENST00000261861(transcript)|go:"GO:0003093"(regulation of glomerular filtration)|go:"GO:0003779"(actin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005925"(focal adhesion)|go:"GO:0010812"(negative regulation of cell-substrate adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0017166"(vinculin binding)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0032956"(regulation of actin cytoskeleton organization)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0051015"(actin filament binding)|go:"GO:0051497"(negative regulation of stress fiber assembly)|go:"GO:0080135"(regulation of cellular response to stress)|go:"GO:1904950"(negative regulation of establishment of protein localization)|go:"GO:1904951"(positive regulation of establishment of protein localization)|go:"GO:1990147"(talin binding)|interpro:IPR001680(WD40 repeat)|interpro:IPR015048(Region of unknown function DUF1899)|interpro:IPR015505(Coronin)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR027339|interpro:IPR036322 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7KUlG6rFuomPMKz+8jqEzXKFsN89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UNL2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1043938|uniprotkb:Q549M4|ensembl:ENSP00000265044|uniprotkb:B2R7D0|uniprotkb:D3DNK5|uniprotkb:B4E2P2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ssrg_human(display_long)|uniprotkb:Signal sequence receptor subunit gamma(gene name synonym)|uniprotkb:SSR3(gene name)|psi-mi:SSR3(display_short)|uniprotkb:TRAPG(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_009038.1|ensembl:ENSG00000114850(gene)|ensembl:ENST00000265044(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0006614"(SRP-dependent cotranslational protein targeting to membrane)|go:"GO:0016021"(integral component of membrane)|interpro:IPR009779(Translocon-associated, gamma subunit)|mint:Q9UNL2|reactome:R-HSA-1799339|refseq:NP_001295126.1|refseq:NP_001295133.1|refseq:NP_001295134.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Fb918T41oaTpc+kzNIygp1h1tlo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A0A0U1RQL8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27045727|ensembl:ENSP00000489067 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a0a0u1rql8_human(display_long)|uniprotkb:GSN(gene name)|psi-mi:GSN(display_short)|uniprotkb:Actin regulatory protein CAP-G(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR007123(Gelsolin region)|interpro:IPR029006|interpro:IPR029917|interpro:IPR007122(Gelsolin)|ensembl:ENSG00000148180(gene)|ensembl:ENST00000477104(transcript)|go:"GO:0001726"(ruffle)|go:"GO:0005634"(nucleus)|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0030027"(lamellipodium)|go:"GO:0042470"(melanosome)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:UkrQqPtTBsYX3iM42s66mHMl85g9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A0A075B7D9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27045706|ensembl:ENSP00000474522|ensembl:ENSP00000488803 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a0a075b7d9_human(display_long)|uniprotkb:TAF15(gene name)|psi-mi:TAF15(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000270647(gene)|ensembl:ENSG00000276833(gene)|ensembl:ENST00000603777(transcript)|ensembl:ENST00000633578(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR001876(Zinc finger, RanBP2-type)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034870|interpro:IPR034875|interpro:IPR035979|interpro:IPR036443 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:QP8A/3t9iZotETBjhCYzAHx520g9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92614 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-949059|ensembl:ENSP00000437073|uniprotkb:Q5H9U3|uniprotkb:Q5W9F9|uniprotkb:Q5W9G1|uniprotkb:Q8IXP8|uniprotkb:Q5QD01 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:my18a_human(display_long)|uniprotkb:Myosin containing a PDZ domain(gene name synonym)|uniprotkb:Molecule associated with JAK3 N-terminus(gene name synonym)|uniprotkb:MYO18A(gene name)|psi-mi:MYO18A(display_short)|uniprotkb:KIAA0216(gene name synonym)|uniprotkb:MYSPDZ(gene name synonym)|uniprotkb:CD245(gene name synonym)|uniprotkb:Surfactant protein receptor SP-R210(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 dip:DIP-46631N|ensembl:ENSG00000196535(gene)|ensembl:ENST00000527372(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0006259"(DNA metabolic process)|go:"GO:0007030"(Golgi organization)|go:"GO:0008094"(ATP-dependent activity, acting on DNA)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0016459"(myosin complex)|go:"GO:0016477"(cell migration)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0042641"(actomyosin)|go:"GO:0043030"(regulation of macrophage activation)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043531"(ADP binding)|go:"GO:0048194"(Golgi vesicle budding)|go:"GO:0050714"(positive regulation of protein secretion)|go:"GO:0051015"(actin filament binding)|go:"GO:0090161"(Golgi ribbon formation)|go:"GO:0090164"(asymmetric Golgi ribbon formation)|go:"GO:1903028"(positive regulation of opsonization)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002928(Myosin tail)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR020587|interpro:IPR027417|interpro:IPR031244|interpro:IPR036034|interpro:IPR036064|interpro:IPR036961|interpro:IPR041489|reactome:R-HSA-1839117|reactome:R-HSA-5655302|reactome:R-HSA-9703465|refseq:NP_510880.2|refseq:NP_976063.1|refseq:NP_001333696.1|refseq:NP_001333697.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IunEYt79RO62wU6VU2gv16Xb7Lk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35580 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351758|intact:EBI-7850240|intact:MINT-8330016|uniprotkb:B2RWP9|uniprotkb:D3DTS1|uniprotkb:Q9BWG0|uniprotkb:Q12989|uniprotkb:Q16087|uniprotkb:Q149N3|ensembl:ENSP00000269243|uniprotkb:Q149N4|uniprotkb:Q6PK16|uniprotkb:F8VTL3|uniprotkb:Q4LE45 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myh10_human(display_long)|uniprotkb:MYH10(gene name)|psi-mi:MYH10(display_short)|uniprotkb:Myosin heavy chain 10(gene name synonym)|uniprotkb:Myosin heavy chain, non-muscle IIb(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain IIb(gene name synonym)|uniprotkb:Cellular myosin heavy chain, type B(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain B(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001243024.1|refseq:NP_001242941.1|refseq:NP_005955.3|ensembl:ENSG00000133026(gene)|ensembl:ENST00000269243(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0000281"(mitotic cytokinesis)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0005938"(cell cortex)|go:"GO:0007155"(cell adhesion)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0016459"(myosin complex)|go:"GO:0016460"(myosin II complex)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0030027"(lamellipodium)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030496"(midbody)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0032154"(cleavage furrow)|go:"GO:0035613"(RNA stem-loop binding)|go:"GO:0042641"(actomyosin)|go:"GO:0043531"(ADP binding)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0050714"(positive regulation of protein secretion)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097513"(myosin II filament)|go:"GO:0098885"(modification of postsynaptic actin cytoskeleton)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002928(Myosin tail)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR008989(Myosin S1 fragment, N-terminal)|interpro:IPR027417|interpro:IPR036961|mint:P35580|rcsb pdb:4PD3|reactome:R-HSA-3928663|reactome:R-HSA-416572|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|refseq:XP_016880169.1|refseq:XP_016880170.1|refseq:XP_016880171.1|dip:DIP-31110N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iSHfJZbrWg1L+vSpu1n7RmTTNN49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y4I1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1054086|uniprotkb:O60653|uniprotkb:Q07902|uniprotkb:Q16249|uniprotkb:Q9UE30|uniprotkb:Q9UE31|uniprotkb:A8MZC5|ensembl:ENSP00000382177 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myo5a_human(display_long)|uniprotkb:Dilute myosin heavy chain, non-muscle(gene name synonym)|uniprotkb:Myosin heavy chain 12(gene name synonym)|uniprotkb:Myoxin(gene name synonym)|uniprotkb:MYO5A(gene name)|psi-mi:MYO5A(display_short)|uniprotkb:MYH12(gene name synonym)|uniprotkb:Myosin-12(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000250.3|refseq:XP_005254454.1|ensembl:ENSG00000197535(gene)|ensembl:ENST00000399231(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0001726"(ruffle)|go:"GO:0003723"(RNA binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006892"(post-Golgi vesicle-mediated transport)|go:"GO:0007015"(actin filament organization)|go:"GO:0015031"(protein transport)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0016459"(myosin complex)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030050"(vesicle transport along actin filament)|go:"GO:0030426"(growth cone)|go:"GO:0031267"(small GTPase binding)|go:"GO:0032402"(melanosome transport)|go:"GO:0032433"(filopodium tip)|go:"GO:0032593"(insulin-responsive compartment)|go:"GO:0032869"(cellular response to insulin stimulus)|go:"GO:0042470"(melanosome)|go:"GO:0043005"(neuron projection)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002710(Dilute)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR027417|interpro:IPR036103|interpro:IPR036961|interpro:IPR037988|mint:Q9Y4I1|rcsb pdb:4D07|rcsb pdb:4J5L|rcsb pdb:4LLI|rcsb pdb:4LX1|rcsb pdb:4LX2|rcsb pdb:5JCY|rcsb pdb:5JCZ|reactome:R-HSA-1445148|reactome:R-HSA-2029482|reactome:R-HSA-264876|reactome:R-HSA-9664422 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:z4bbPG/RrXSmBWT6I0nbIztGp809606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UHB9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1048560|uniprotkb:Q8NCJ4|uniprotkb:Q8WUK2|uniprotkb:B3KUU5|uniprotkb:B3KWY7|uniprotkb:G3V1U4|ensembl:ENSP00000312066 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:srp68_human(display_long)|uniprotkb:SRP68(gene name)|psi-mi:SRP68(display_short)|uniprotkb:Signal recognition particle 68 kDa protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001247431.1|refseq:NP_001247432.1|refseq:NP_055045.2|interpro:IPR026258|interpro:IPR034652|interpro:IPR038253|mint:Q9UHB9|rcsb pdb:4P3E|rcsb pdb:4P3F|rcsb pdb:5M72|rcsb pdb:5M73|rcsb pdb:5WRV|rcsb pdb:7NFX|reactome:R-HSA-1799339|ensembl:ENSG00000167881(gene)|ensembl:ENST00000307877(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005047"(signal recognition particle binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005786"(signal recognition particle, endoplasmic reticulum targeting)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006614"(SRP-dependent cotranslational protein targeting to membrane)|go:"GO:0008312"(7S RNA binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030942"(endoplasmic reticulum signal peptide binding)|go:"GO:0042493"|go:"GO:0048500"(signal recognition particle)|dip:DIP-50905N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8WwEMUV+QzJGJ6G7xufvSibYTSY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P19474 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-81290|uniprotkb:Q96RF8|uniprotkb:Q5XPV5|ensembl:ENSP00000254436 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ro52_human(display_long)|uniprotkb:TRIM21(gene name)|psi-mi:TRIM21(display_short)|uniprotkb:RNF81(gene name synonym)|uniprotkb:Sjoegren syndrome type A antigen(gene name synonym)|uniprotkb:"Ro(SS-A)"(gene name synonym)|uniprotkb:52 kDa ribonucleoprotein autoantigen Ro/SS-A(gene name synonym)|uniprotkb:Tripartite motif-containing protein 21(gene name synonym)|uniprotkb:RING finger protein 81(gene name synonym)|uniprotkb:52 kDa Ro protein(gene name synonym)|uniprotkb:RO52(gene name synonym)|uniprotkb:SSA1(gene name synonym)|uniprotkb:RING-type E3 ubiquitin transferase TRIM21(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003132.2|go:"GO:0019901"(protein kinase binding)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031648"(protein destabilization)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0032092"(positive regulation of protein binding)|go:"GO:0032479"(regulation of type I interferon production)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0032897"(negative regulation of viral transcription)|go:"GO:0034341"(response to interferon-gamma)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0045087"(innate immune response)|go:"GO:0045787"(positive regulation of cell cycle)|go:"GO:0045824"(negative regulation of innate immune response)|go:"GO:0046596"(regulation of viral entry into host cell)|go:"GO:0046598"(positive regulation of viral entry into host cell)|go:"GO:0051091"(positive regulation of DNA-binding transcription factor activity)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051865"(protein autoubiquitination)|go:"GO:0061630"(ubiquitin protein ligase activity)|go:"GO:0070534"(protein K63-linked ubiquitination)|go:"GO:0090086"(negative regulation of protein deubiquitination)|ensembl:ENSG00000132109(gene)|ensembl:ENST00000254436(transcript)|go:"GO:0000209"(protein polyubiquitination)|go:"GO:0000932"(P-body)|go:"GO:0003677"(DNA binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0004842"(ubiquitin-protein transferase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005776"(autophagosome)|go:"GO:0005829"(cytosol)|go:"GO:0006513"(protein monoubiquitination)|go:"GO:0007049"(cell cycle)|go:"GO:0008270"(zinc ion binding)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0010508"(positive regulation of autophagy)|go:"GO:0016567"(protein ubiquitination)|interpro:IPR006574(SPRY-associated)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR017907|interpro:IPR020457|interpro:IPR035831|interpro:IPR043136|mint:P19474|rcsb pdb:2IWG|rcsb pdb:5JPX|rcsb pdb:5OLM|rcsb pdb:6FGA|rcsb pdb:6S53|rcsb pdb:7BBD|reactome:R-HSA-1834941|reactome:R-HSA-3134975|reactome:R-HSA-877300|reactome:R-HSA-983168|go:"GO:1902187"|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000315(Zinc finger, B-box)|interpro:IPR001841(Zinc finger, RING-type)|interpro:IPR001870("B302 (SPRY)-like")|interpro:IPR003613(U box)|interpro:IPR003877(SPla/RYanodine receptor SPRY)|interpro:IPR003879(Butyrophylin-like) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/9rpwdudXQWv8z8JLmRecXf3YQM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14643 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-465548|ensembl:ENSP00000497605|uniprotkb:Q14660|uniprotkb:Q99897|uniprotkb:E7EPX7|uniprotkb:E9PDE9 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:itpr1_human(display_long)|uniprotkb:ITPR1(gene name)|psi-mi:ITPR1(display_short)|uniprotkb:INSP3R1(gene name synonym)|uniprotkb:Type 1 inositol 1,4,5-trisphosphate receptor(gene name synonym)|uniprotkb:IP3 receptor isoform 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000150995(gene)|ensembl:ENST00000649015(transcript)|go:"GO:0001666"(response to hypoxia)|go:"GO:0005220"(inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005637"(nuclear inner membrane)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005955"(calcineurin complex)|go:"GO:0006816"(calcium ion transport)|go:"GO:0007165"(signal transduction)|go:"GO:0009791"(post-embryonic development)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015085"(calcium ion transmembrane transporter activity)|go:"GO:0015278"(calcium-release channel activity)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016529"(sarcoplasmic reticulum)|go:"GO:0019855"(calcium channel inhibitor activity)|go:"GO:0030658"(transport vesicle membrane)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0031088"(platelet dense granule membrane)|go:"GO:0031094"(platelet dense tubular network)|go:"GO:0031095"(platelet dense tubular network membrane)|go:"GO:0032469"(endoplasmic reticulum calcium ion homeostasis)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0042045"(epithelial fluid transport)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050849"(negative regulation of calcium-mediated signaling)|go:"GO:0050882"(voluntary musculoskeletal movement)|go:"GO:0051209"(release of sequestered calcium ion into cytosol)|go:"GO:0070059"(intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress)|go:"GO:0070679"(inositol 1,4,5 trisphosphate binding)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|interpro:IPR000493(Inositol 1,4,5-trisphosphate-binding protein receptor)|interpro:IPR000699(Intracellular calcium-release channel)|interpro:IPR005821(Ion transport)|interpro:IPR013662(RyR and IP3R Homology associated)|interpro:IPR014821(Inositol 1,4,5-trisphosphate/ryanodine receptor)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR016093(MIR motif)|interpro:IPR035910|interpro:IPR036300|reactome:R-HSA-112043|reactome:R-HSA-114508|reactome:R-HSA-139853|reactome:R-HSA-1489509|go:"GO:0098695"(inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels)|reactome:R-HSA-2029485|reactome:R-HSA-2871809|reactome:R-HSA-381676|reactome:R-HSA-4086398|reactome:R-HSA-418457|reactome:R-HSA-422356|reactome:R-HSA-5218921|reactome:R-HSA-5578775|reactome:R-HSA-5607763|reactome:R-HSA-9664323|reactome:R-HSA-983695|refseq:NP_001093422.2|refseq:NP_002213.5|refseq:XP_011531985.1|dip:DIP-29714N|refseq:NP_001161744.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:54BRt783vU5D9fCHNO5uFJy1N7I9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PHV5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27045688|ensembl:ENSP00000387319 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9phv5_human(display_long)|uniprotkb:ITPRID2(gene name)|psi-mi:ITPRID2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138434(gene)|ensembl:ENST00000409001(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|interpro:IPR026648|interpro:IPR029325|interpro:IPR029326|interpro:IPR043444|refseq:NP_001274432.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qyzjWH7EO93qsYvJ7pgYR+NRNjA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9P0K7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1023749|uniprotkb:Q6V1W9|uniprotkb:Q7Z5I4|uniprotkb:Q7Z733|uniprotkb:Q9P2L2|uniprotkb:Q9Y3T5|uniprotkb:E9PED3|intact:EBI-2555698|ensembl:ENSP00000265109|ensembl:ENSP00000388725|ensembl:ENSP00000422942 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rai14_human(display_long)|uniprotkb:Ankyrin repeat and coiled-coil structure-containing protein(gene name synonym)|uniprotkb:Retinoic acid-induced protein 14(gene name synonym)|uniprotkb:Novel retinal pigment epithelial cell protein(gene name synonym)|uniprotkb:RAI14(gene name)|psi-mi:RAI14(display_short)|uniprotkb:KIAA1334(gene name synonym)|uniprotkb:NORPEG(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001138992.1|refseq:NP_001138993.1|refseq:NP_001138994.1|refseq:NP_001138995.1|refseq:NP_001138997.1|refseq:NP_056392.2|refseq:XP_011512319.1|refseq:XP_011512320.1|refseq:XP_011512321.1|refseq:XP_011512322.1|refseq:XP_011512323.1|refseq:XP_011512324.1|ensembl:ENSG00000039560(gene)|ensembl:ENST00000265109(transcript)|ensembl:ENST00000428746(transcript)|ensembl:ENST00000503673(transcript)|go:"GO:0001650"(fibrillar center)|go:"GO:0003779"(actin binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005938"(cell cortex)|go:"GO:0007283"(spermatogenesis)|go:"GO:0030054"(cell junction)|go:"GO:0030154"(cell differentiation)|interpro:IPR002110(Ankyrin)|interpro:IPR020683|interpro:IPR036770|interpro:IPR042420|mint:Q9P0K7|refseq:XP_006714532.1|refseq:XP_016864824.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:m5hQYx6HEi9QEAey1UiNpeAp6tw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DSC2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27045674 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dsc2_human(display_long)|uniprotkb:Very-long-chain 3-oxoacyl-CoA synthase(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0009922"(fatty acid elongase activity)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019367"(fatty acid elongation, saturated fatty acid)|go:"GO:0042761"(very long-chain fatty acid biosynthetic process)|go:"GO:0102336"(3-oxo-arachidoyl-CoA synthase activity)|go:"GO:0102337"(3-oxo-cerotoyl-CoA synthase activity)|go:"GO:0102756"(very-long-chain 3-ketoacyl-CoA synthase activity)|go:"GO:0102338"(3-oxo-lignoceronyl-CoA synthase activity)|interpro:IPR002076(GNS1/SUR4 membrane protein)|interpro:IPR033677 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fVPMVJkiUKzDODD84FwMLNS1xOY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UN86 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1044298|uniprotkb:O60606|uniprotkb:O75149|uniprotkb:Q9UPA1|ensembl:ENSP00000352738|ensembl:ENSP00000379069|ensembl:ENSP00000503228|ensembl:ENSP00000503239|ensembl:ENSP00000503355|ensembl:ENSP00000503669|ensembl:ENSP00000503911|ensembl:ENSP00000503943|ensembl:ENSP00000504101|ensembl:ENSP00000504159|ensembl:ENSP00000504316|ensembl:ENSP00000504361|ensembl:ENSP00000504371|ensembl:ENSP00000504496|ensembl:ENSP00000504523|ensembl:ENSP00000504585|ensembl:ENSP00000504698|ensembl:ENSP00000503504|uniprotkb:A8K6X1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:g3bp2_human(display_long)|uniprotkb:GAP SH3 domain-binding protein 2(gene name synonym)|uniprotkb:G3BP2(gene name)|psi-mi:G3BP2(display_short)|uniprotkb:KIAA0660(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036429.2|refseq:NP_987100.1|refseq:NP_987101.1|ensembl:ENSG00000138757(gene)|ensembl:ENST00000677620(transcript)|ensembl:ENST00000678062(transcript)|ensembl:ENST00000678100(transcript)|ensembl:ENST00000678123(transcript)|ensembl:ENST00000678265(transcript)|ensembl:ENST00000678578(transcript)|ensembl:ENST00000678798(transcript)|ensembl:ENST00000678971(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007253"(cytoplasmic sequestering of NF-kappaB)|go:"GO:0007265"(Ras protein signal transduction)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0030159"(signaling receptor complex adaptor activity)|go:"GO:0034063"(stress granule assembly)|go:"GO:0045087"(innate immune response)|go:"GO:0051028"(mRNA transport)|go:"GO:0051260"(protein homooligomerization)|go:"GO:0062029"(positive regulation of stress granule assembly)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR002075(Nuclear transport factor 2)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR018222|interpro:IPR032710|interpro:IPR034376|interpro:IPR034377|interpro:IPR035979|interpro:IPR039539|mint:Q9UN86|rcsb pdb:5DRV|ensembl:ENST00000359707(transcript)|ensembl:ENST00000395719(transcript)|ensembl:ENST00000676584(transcript)|ensembl:ENST00000676974(transcript)|ensembl:ENST00000677162(transcript)|ensembl:ENST00000677171(transcript)|ensembl:ENST00000677201(transcript)|ensembl:ENST00000677333(transcript)|ensembl:ENST00000677566(transcript)|ensembl:ENST00000677606(transcript)|refseq:XP_011530743.1|refseq:XP_005263439.1|refseq:XP_005263440.1|refseq:XP_016864365.1|refseq:XP_016864366.1|refseq:XP_016864367.1|refseq:XP_016864368.1|dip:DIP-50299N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:bYP8U2wviIqJBWcnLQnuoV0MhV89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9ULV4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351384|uniprotkb:Q9NSK5|uniprotkb:B3KU12|ensembl:ENSP00000261401|ensembl:ENSP00000438341|intact:EBI-4404698|uniprotkb:A7MAP0|uniprotkb:A7MAP1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cor1c_human(display_long)|uniprotkb:CORO1C(gene name)|psi-mi:CORO1C(display_short)|uniprotkb:CRNN4(gene name synonym)|uniprotkb:Coronin-3(gene name synonym)|uniprotkb:hCRNN4(gene name synonym)|uniprotkb:CRN2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001263400.1|refseq:NP_055140.1|ensembl:ENSG00000110880(gene)|ensembl:ENST00000261401(transcript)|ensembl:ENST00000541050(transcript)|go:"GO:0001755"(neural crest cell migration)|go:"GO:0001932"(regulation of protein phosphorylation)|go:"GO:0001933"(negative regulation of protein phosphorylation)|go:"GO:0005925"(focal adhesion)|go:"GO:0005938"(cell cortex)|go:"GO:0006909"(phagocytosis)|go:"GO:0007015"(actin filament organization)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0010632"(regulation of epithelial cell migration)|go:"GO:0010633"(negative regulation of epithelial cell migration)|go:"GO:0030017"(sarcomere)|go:"GO:0030027"(lamellipodium)|go:"GO:0031267"(small GTPase binding)|go:"GO:0032587"(ruffle membrane)|go:"GO:0042383"(sarcolemma)|go:"GO:0044387"(negative regulation of protein kinase activity by regulation of protein phosphorylation)|go:"GO:0045184"(establishment of protein localization)|go:"GO:0045202"(synapse)|go:"GO:0051015"(actin filament binding)|go:"GO:0051893"(regulation of focal adhesion assembly)|go:"GO:0010762"(regulation of fibroblast migration)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0051895"(negative regulation of focal adhesion assembly)|go:"GO:0090148"(membrane fission)|go:"GO:0090630"(activation of GTPase activity)|go:"GO:0016197"(endosomal transport)|go:"GO:0097750"(endosome membrane tubulation)|go:"GO:0140285"(endosome fission)|go:"GO:1900024"(regulation of substrate adhesion-dependent cell spreading)|go:"GO:1900025"(negative regulation of substrate adhesion-dependent cell spreading)|go:"GO:1900027"(regulation of ruffle assembly)|go:"GO:2000394"(positive regulation of lamellipodium morphogenesis)|interpro:IPR001680(WD40 repeat)|interpro:IPR015048(Region of unknown function DUF1899)|interpro:IPR015505(Coronin)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR027333|interpro:IPR036322|mint:Q9ULV4|go:"GO:0016328"(lateral plasma membrane)|go:"GO:0016477"(cell migration)|go:"GO:0016600"(flotillin complex)|refseq:NP_001098707.1|refseq:XP_016874610.1|refseq:XP_016874611.1|refseq:XP_016874612.1|dip:DIP-33138N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Em/LQxjBk9n4tobk5ksyDfFSyeU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9ULJ8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2515561|ensembl:ENSP00000344524|ensembl:ENSP00000398870|uniprotkb:O76059|uniprotkb:Q9NXT2|uniprotkb:F8W7J9|uniprotkb:A1L494|uniprotkb:B2RWQ1|uniprotkb:E9PCA0|uniprotkb:E9PCK6|uniprotkb:E9PDX1|intact:EBI-11031420 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:neb1_human(display_long)|uniprotkb:PPP1R9A(gene name)|psi-mi:PPP1R9A(display_short)|uniprotkb:KIAA1222(gene name synonym)|uniprotkb:Neurabin-I(gene name synonym)|uniprotkb:Neural tissue-specific F-actin-binding protein I(gene name synonym)|uniprotkb:Protein phosphatase 1 regulatory subunit 9A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000158528(gene)|ensembl:ENST00000340694(transcript)|ensembl:ENST00000433881(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007015"(actin filament organization)|go:"GO:0007568"(aging)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008157"(protein phosphatase 1 binding)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0019722"(calcium-mediated signaling)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030175"(filopodium)|go:"GO:0030425"(dendrite)|go:"GO:0030833"(regulation of actin filament polymerization)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031175"(neuron projection development)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0044326"(dendritic spine neck)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0051015"(actin filament binding)|go:"GO:0051020"(GTPase binding)|go:"GO:0051489"(regulation of filopodium assembly)|go:"GO:0051497"(negative regulation of stress fiber assembly)|go:"GO:0051823"(regulation of synapse structural plasticity)|go:"GO:0051963"(regulation of synapse assembly)|go:"GO:0060079"(excitatory postsynaptic potential)|go:"GO:0060999"(positive regulation of dendritic spine development)|go:"GO:0061001"(regulation of dendritic spine morphogenesis)|go:"GO:0097237"(cellular response to toxic substance)|go:"GO:0098871"(postsynaptic actin cytoskeleton)|go:"GO:0098974"(postsynaptic actin cytoskeleton organization)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1900272"(negative regulation of long-term synaptic potentiation)|go:"GO:1900454"(positive regulation of long-term synaptic depression)|go:"GO:1904049"(negative regulation of spontaneous neurotransmitter secretion)|go:"GO:1990761"(growth cone lamellipodium)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR001660(Sterile alpha motif SAM)|go:"GO:0019901"(protein kinase binding)|interpro:IPR029994|interpro:IPR036034|interpro:IPR040645|interpro:IPR043446|mint:Q9ULJ8|rcsb pdb:1WF8|interpro:IPR013761(Sterile alpha motif-type)|refseq:XP_016867892.1|refseq:XP_016867894.1|refseq:XP_016867895.1|refseq:NP_001159632.1|refseq:NP_001159633.1|refseq:NP_001159634.1|refseq:NP_060120.2|refseq:NP_001159635.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:WoKc99IJ5LLtXFS0vmzxpg8CgHc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UKL0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-926563|uniprotkb:Q15044|uniprotkb:Q6P2I9|uniprotkb:Q86VG5|intact:EBI-11087913|uniprotkb:J3KN32|ensembl:ENSP00000262241 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rcor1_human(display_long)|uniprotkb:RCOR1(gene name)|psi-mi:RCOR1(display_short)|uniprotkb:KIAA0071(gene name synonym)|uniprotkb:RCOR(gene name synonym)|uniprotkb:Protein CoREST(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_055971.2|dip:DIP-35263N|ensembl:ENSG00000089902(gene)|ensembl:ENST00000262241(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016575"(histone deacetylation)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019899"(enzyme binding)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0045654"(positive regulation of megakaryocyte differentiation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:1990391"(DNA repair complex)|interpro:IPR000949(ELM2)|interpro:IPR001005(SANT, DNA-binding)|interpro:IPR009057(Homeodomain-like)|interpro:IPR017884|interpro:IPR017930|mint:Q9UKL0|rcsb pdb:2IW5|rcsb pdb:2UXN|rcsb pdb:2UXX|rcsb pdb:2V1D|rcsb pdb:2X0L|rcsb pdb:2XAF|rcsb pdb:2XAG|rcsb pdb:2XAH|rcsb pdb:2XAJ|rcsb pdb:2XAQ|rcsb pdb:2XAS|rcsb pdb:2Y48|rcsb pdb:3ZMS|rcsb pdb:3ZMT|rcsb pdb:3ZMU|rcsb pdb:3ZMV|rcsb pdb:3ZMZ|rcsb pdb:3ZN0|rcsb pdb:3ZN1|rcsb pdb:4BAY|rcsb pdb:4KUM|rcsb pdb:4UV8|rcsb pdb:4UV9|rcsb pdb:4UVA|rcsb pdb:4UVB|rcsb pdb:4UVC|rcsb pdb:4UXN|rcsb pdb:4XBF|rcsb pdb:5H6Q|rcsb pdb:5H6R|rcsb pdb:5L3B|rcsb pdb:5L3C|rcsb pdb:5L3D|rcsb pdb:5L3E|rcsb pdb:5L3F|rcsb pdb:5L3G|rcsb pdb:5LBQ|rcsb pdb:5LGN|rcsb pdb:5LGT|rcsb pdb:5LGU|rcsb pdb:5LHG|rcsb pdb:5LHH|rcsb pdb:5LHI|rcsb pdb:5X60|rcsb pdb:5YJB|rcsb pdb:6K3E|rcsb pdb:6KGK|rcsb pdb:6KGL|rcsb pdb:6KGM|rcsb pdb:6KGN|rcsb pdb:6S35|rcsb pdb:6TE1|rcsb pdb:6VYP|rcsb pdb:6W4K|rcsb pdb:6WC6|rcsb pdb:7CDC|rcsb pdb:7CDD|rcsb pdb:7CDE|rcsb pdb:7CDF|rcsb pdb:7CDG|reactome:R-HSA-3214815|reactome:R-HSA-8943724|reactome:R-HSA-9679191|reactome:R-HSA-983231 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B1KfnjicGzKdWGnGGrZwjgpMQ309606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UHI6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-347658|uniprotkb:Q96F72|uniprotkb:Q9NVM3|uniprotkb:Q9UF59|uniprotkb:Q9UIY0|uniprotkb:Q9Y659|uniprotkb:B4DWV7|ensembl:ENSP00000358716|ensembl:ENSP00000505857 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ddx20_human(display_long)|uniprotkb:DDX20(gene name)|psi-mi:DDX20(display_short)|uniprotkb:DP103(gene name synonym)|uniprotkb:GEMIN3(gene name synonym)|uniprotkb:DEAD box protein 20(gene name synonym)|uniprotkb:DEAD box protein DP 103(gene name synonym)|uniprotkb:Component of gems 3(gene name synonym)|uniprotkb:Gemin-3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_009135.4|ensembl:ENSP00000358716|ensembl:ENST00000533164|ensembl:ENSP00000434085|ensembl:ENSP00000505857|dip:DIP-32606N|ensembl:ENSG00000064703(gene)|ensembl:ENST00000369702(transcript)|ensembl:ENST00000679724(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000244"(spliceosomal tri-snRNP complex assembly)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0006396"(RNA processing)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030674"(protein-macromolecule adaptor activity)|go:"GO:0032797"(SMN complex)|go:"GO:0034719"(SMN-Sm protein complex)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0048477"(oogenesis)|go:"GO:0050810"(regulation of steroid biosynthetic process)|go:"GO:0090571"(RNA polymerase II transcription repressor complex)|go:"GO:0097504"(Gemini of coiled bodies)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR000629(RNA helicase, ATP-dependent, DEAD-box, conserved site)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR014014(RNA helicase, DEAD-box type, Q motif)|interpro:IPR027417|mint:Q9UHI6|rcsb pdb:2OXC|rcsb pdb:3B7G|reactome:R-HSA-191859|go:"GO:0043065"(positive regulation of apoptotic process) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Q9IGbhb825yL12imyTlBAHZ4YyU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UHD8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-851542|uniprotkb:Q96QF3|uniprotkb:Q96QF4|uniprotkb:Q96QF5|uniprotkb:Q9HA04|uniprotkb:Q9UG40|uniprotkb:Q9Y5W4|uniprotkb:A8K2V3|uniprotkb:B3KPM0|uniprotkb:B4DTL9|uniprotkb:B4E0N2|uniprotkb:B4E274|uniprotkb:B7Z654|ensembl:ENSP00000391249 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sept9_human(display_long)|uniprotkb:SEPTIN9(gene name)|psi-mi:SEPTIN9(display_short)|uniprotkb:KIAA0991(gene name synonym)|uniprotkb:MLL septin-like fusion protein MSF-A(gene name synonym)|uniprotkb:MSF(gene name synonym)|uniprotkb:Ovarian/Breast septin(gene name synonym)|uniprotkb:SEPT9(gene name synonym)|uniprotkb:Septin D1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_006721706.1|refseq:XP_006721707.1|refseq:NP_001106963.1|refseq:NP_001106964.1|refseq:NP_001106965.1|refseq:NP_001106966.1|refseq:NP_001106967.1|refseq:NP_001106968.1|refseq:NP_006631.2|refseq:XP_016879520.1|refseq:XP_016879521.1|refseq:NP_001280624.1|refseq:NP_001280625.1|refseq:NP_001280626.1|refseq:NP_001280627.1|refseq:XP_011522509.1|refseq:XP_011522510.1|refseq:XP_005257019.1|dip:DIP-36697N|ensembl:ENSG00000184640(gene)|ensembl:ENST00000427177(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0005930"(axoneme)|go:"GO:0005940"(septin ring)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0031105"(septin complex)|go:"GO:0032153"(cell division site)|go:"GO:0034613"(cellular protein localization)|go:"GO:0045296"(cadherin binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0061640"(cytoskeleton-dependent cytokinesis)|go:"GO:0097730"(non-motile cilium)|go:"GO:1902857"(positive regulation of non-motile cilium assembly)|interpro:IPR016491(Septin)|interpro:IPR027417|interpro:IPR030379|interpro:IPR030645|mint:Q9UHD8|rcsb pdb:4YQF|rcsb pdb:5CYO|rcsb pdb:5CYP intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YzUn6hS5tAX/U+SJ8YzqzWW/dQI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9P2K3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-743428|uniprotkb:B3KYA2|uniprotkb:B4DYY7|uniprotkb:Q5VT47|uniprotkb:Q7L9I5|uniprotkb:Q8N5U3|uniprotkb:Q9NV83|ensembl:ENSP00000355972 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rcor3_human(display_long)|uniprotkb:RCOR3(gene name)|psi-mi:RCOR3(display_short)|uniprotkb:KIAA1343(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:4CZZ|refseq:NP_001129695.1|refseq:NP_001129696.2|refseq:NP_001129697.1|refseq:NP_060724.1|ensembl:ENSG00000117625(gene)|ensembl:ENST00000367005(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0016575"(histone deacetylation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|interpro:IPR000949(ELM2)|interpro:IPR001005(SANT, DNA-binding)|interpro:IPR009057(Homeodomain-like)|interpro:IPR017884|interpro:IPR017930|mint:Q9P2K3 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:hzuKCK7o/85XbN65z8Ua+XNaSJc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NYL9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352614|ensembl:ENSP00000308753|uniprotkb:Q9NT43|uniprotkb:Q9NZR0|uniprotkb:B2R6G7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tmod3_human(display_long)|uniprotkb:TMOD3(gene name)|psi-mi:TMOD3(display_short)|uniprotkb:Ubiquitous tropomodulin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138594(gene)|ensembl:ENST00000308580(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005523"(tropomyosin binding)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005865"(striated muscle thin filament)|go:"GO:0005912"(adherens junction)|go:"GO:0006936"(muscle contraction)|go:"GO:0007015"(actin filament organization)|go:"GO:0030016"(myofibril)|go:"GO:0030239"(myofibril assembly)|refseq:NP_055362.1|go:"GO:0048821"(erythrocyte development)|go:"GO:0051694"(pointed-end actin filament capping)|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|go:"GO:1901992"(positive regulation of mitotic cell cycle phase transition)|interpro:IPR004934(Tropomodulin)|interpro:IPR030133|interpro:IPR032675|mint:Q9NYL9|reactome:R-HSA-390522|reactome:R-HSA-9013418|reactome:R-HSA-9696264|refseq:XP_016877576.1|refseq:XP_016877577.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:crEfCAAepSPAE8ByBpD4Sr14P5I9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NY12 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2510382|ensembl:ENSP00000226796|ensembl:ENSP00000378127|uniprotkb:Q5MJQ2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gar1_human(display_long)|uniprotkb:GAR1(gene name)|psi-mi:GAR1(display_short)|uniprotkb:NOLA1(gene name synonym)|uniprotkb:snoRNP protein GAR1(gene name synonym)|uniprotkb:Nucleolar protein family A member 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000109534(gene)|ensembl:ENST00000226796(transcript)|ensembl:ENST00000394631(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005697"(telomerase holoenzyme complex)|go:"GO:0007004"(telomere maintenance via telomerase)|go:"GO:0031429"(box H/ACA snoRNP complex)|go:"GO:0034513"(box H/ACA snoRNA binding)|go:"GO:0070034"(telomerase RNA binding)|go:"GO:0072589"(box H/ACA scaRNP complex)|go:"GO:0090661"(box H/ACA telomerase RNP complex)|interpro:IPR007504(Gar1 protein RNA-binding region)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR038664|mint:Q9NY12|rcsb pdb:7BGB|reactome:R-HSA-171319|go:"GO:0000454"(snoRNA guided rRNA pseudouridine synthesis)|reactome:R-HSA-6790901|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0001650"(fibrillar center)|go:"GO:0003723"(RNA binding)|refseq:NP_061856.1|refseq:NP_127460.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:voLJvYfWyMWtTf0VSd7XeY3psC09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NVP1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-724378|ensembl:ENSP00000263239|uniprotkb:Q6GTZ9|uniprotkb:Q6IAU4|uniprotkb:Q92732|uniprotkb:Q9BQB7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ddx18_human(display_long)|uniprotkb:DEAD box protein 18(gene name synonym)|uniprotkb:Myc-regulated DEAD box protein(gene name synonym)|uniprotkb:DDX18(gene name)|psi-mi:DDX18(display_short)|uniprotkb:cPERP-D(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006764.3|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR000629(RNA helicase, ATP-dependent, DEAD-box, conserved site)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR025313|interpro:IPR027417|interpro:IPR044773|mint:Q9NVP1|rcsb pdb:3LY5|ensembl:ENSG00000088205(gene)|ensembl:ENST00000263239(transcript)|go:"GO:0000463"("maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0016020"(membrane)|go:"GO:0071392"(cellular response to estradiol stimulus) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:RmupZbt33/w1V7Uq5vnRO36j2Tc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NUQ6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-5280638|uniprotkb:A8K381|uniprotkb:B7WNZ7|uniprotkb:Q53T22|uniprotkb:Q8WV53|uniprotkb:Q8WYG1|uniprotkb:Q9NTW4|uniprotkb:B4DRE6|uniprotkb:B4DT67|ensembl:ENSP00000351503|ensembl:ENSP00000386336|ensembl:ENSP00000386730|ensembl:ENSP00000386931|ensembl:ENSP00000391467 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sps2l_human(display_long)|uniprotkb:SPATS2L(gene name)|psi-mi:SPATS2L(display_short)|uniprotkb:DNAPTP6(gene name synonym)|uniprotkb:DNA polymerase-transactivated protein 6(gene name synonym)|uniprotkb:Stress granule and nucleolar protein(gene name synonym)|uniprotkb:SP1224(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001269664.1|refseq:NP_001269672.1|refseq:XP_011509240.1|refseq:XP_011509241.1|refseq:NP_001093892.1|refseq:NP_001093893.1|refseq:NP_001093894.1|refseq:NP_056350.2|refseq:XP_005246513.1|refseq:XP_005246514.1|refseq:XP_005246515.1|refseq:XP_005246516.1|refseq:NP_001269673.1|refseq:XP_016859272.1|refseq:XP_016859274.1|refseq:XP_016859275.1|refseq:XP_016859276.1|ensembl:ENSG00000196141(gene)|ensembl:ENST00000358677(transcript)|ensembl:ENST00000409140(transcript)|ensembl:ENST00000409718(transcript)|ensembl:ENST00000409988(transcript)|ensembl:ENST00000451764(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0032991"(protein-containing complex)|interpro:IPR009060(UBA-like)|interpro:IPR009816(Protein of unknown function DUF1387)|mint:Q9NUQ6 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B+nzSpiu2ECSVNxsajBSZrk6dhA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NR30 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357942|uniprotkb:Q13436|uniprotkb:Q5VX41|uniprotkb:Q68D35|uniprotkb:B2RDL0|intact:EBI-2555822|ensembl:ENSP00000346120 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ddx21_human(display_long)|uniprotkb:DDX21(gene name)|psi-mi:DDX21(display_short)|uniprotkb:Nucleolar RNA helicase II(gene name synonym)|uniprotkb:Nucleolar RNA helicase Gu(gene name synonym)|uniprotkb:RH II/Gu(gene name synonym)|uniprotkb:Gu-alpha(gene name synonym)|uniprotkb:DEAD box protein 21(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004719.2|dip:DIP-32941N|refseq:NP_001243839.1|ensembl:ENSG00000165732(gene)|ensembl:ENST00000354185(transcript)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0002735"(positive regulation of myeloid dendritic cell cytokine production)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005739"(mitochondrion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006366"(transcription by RNA polymerase II)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0030515"(snoRNA binding)|go:"GO:0035198"(miRNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0045087"(innate immune response)|go:"GO:0051607"(defense response to virus)|go:"GO:0062176"(R-loop disassembly)|go:"GO:0097322"(7SK snRNA binding)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR012562(GUCT)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR027417|interpro:IPR035979|mint:Q9NR30|rcsb pdb:2M3D|rcsb pdb:6L5L|rcsb pdb:6L5M|rcsb pdb:6L5N|rcsb pdb:6L5O|reactome:R-HSA-5250924|reactome:R-HSA-6791226|go:"GO:0005829"(cytosol) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:NSmxvs3DBWvKpVDEAHIpqy7/b6w9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9HCE1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1055820|uniprotkb:Q5JR03|uniprotkb:Q8TEF0|uniprotkb:Q9BSY3|uniprotkb:Q9BUJ9|ensembl:ENSP00000350028|ensembl:ENSP00000358659|ensembl:ENSP00000399797 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mov10_human(display_long)|uniprotkb:Moloney leukemia virus 10 protein(gene name synonym)|uniprotkb:MOV10(gene name)|psi-mi:MOV10(display_short)|uniprotkb:KIAA1631(gene name synonym)|uniprotkb:Armitage homolog(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001273001.1|refseq:NP_001123551.1|refseq:NP_066014.1|refseq:NP_001308253.1|ensembl:ENSG00000155363(gene)|ensembl:ENST00000357443(transcript)|ensembl:ENST00000369645(transcript)|ensembl:ENST00000413052(transcript)|go:"GO:0000932"(P-body)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0010526"(negative regulation of transposition, RNA-mediated)|go:"GO:0032574"(5'-3' RNA helicase activity)|go:"GO:0035194"(post-transcriptional gene silencing by RNA)|go:"GO:0035195"(gene silencing by miRNA)|go:"GO:0035279"(miRNA-mediated gene silencing by mRNA destabilization)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0043186"(P granule)|go:"GO:0051607"(defense response to virus)|go:"GO:0061014"(positive regulation of mRNA catabolic process)|go:"GO:0061158"(3'-UTR-mediated mRNA destabilization)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:0150011"(regulation of neuron projection arborization)|interpro:IPR026122|interpro:IPR027417|interpro:IPR041679|mint:Q9HCE1|reactome:R-HSA-1912408|reactome:R-HSA-2559580|reactome:R-HSA-2559585|reactome:R-HSA-4086398|reactome:R-HSA-5628897|reactome:R-HSA-5687128|reactome:R-HSA-8853884|reactome:R-HSA-8934593|reactome:R-HSA-8943723|reactome:R-HSA-8948700|reactome:R-HSA-8986944|reactome:R-HSA-9018519|reactome:R-HSA-9022692|reactome:R-HSA-9029569|reactome:R-HSA-8936459|dip:DIP-44158N|refseq:XP_005270926.1|refseq:XP_005270927.1|refseq:XP_016856807.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:symbA7qOGiAY2NuQXO+5gv/It3k9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9HAN9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-3917542|uniprotkb:Q8TAE9|uniprotkb:Q9H6B6|uniprotkb:Q9H247|uniprotkb:B1AN63|ensembl:ENSP00000366410|ensembl:ENSP00000435134 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nmna1_human(display_long)|uniprotkb:NMNAT1(gene name)|psi-mi:NMNAT1(display_short)|uniprotkb:NMNAT(gene name synonym)|uniprotkb:Nicotinate-nucleotide adenylyltransferase 1(gene name synonym)|uniprotkb:Nicotinamide-nucleotide adenylyltransferase 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001284707.1|refseq:NP_073624.2|ensembl:ENSG00000173614(gene)|ensembl:ENST00000377205(transcript)|ensembl:ENST00000462686(transcript)|go:"GO:0000309"(nicotinamide-nucleotide adenylyltransferase activity)|go:"GO:0004515"(nicotinate-nucleotide adenylyltransferase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0009165"(nucleotide biosynthetic process)|go:"GO:0009435"(NAD biosynthetic process)|go:"GO:0009611"(response to wounding)|go:"GO:0016604"(nuclear body)|go:"GO:0042802"(identical protein binding)|go:"GO:0043410"(positive regulation of MAPK cascade)|go:"GO:0043524"(negative regulation of neuron apoptotic process)|go:"GO:1902511"(negative regulation of apoptotic DNA fragmentation)|go:"GO:1990966"(ATP generation from poly-ADP-D-ribose)|interpro:IPR004821(Cytidyltransferase-related)|interpro:IPR005248(Probable nicotinate-nucleotide adenylyltransferase)|interpro:IPR014729(Rossmann-like alpha/beta/alpha sandwich fold)|mint:Q9HAN9|rcsb pdb:1GZU|rcsb pdb:1KKU|rcsb pdb:1KQN|rcsb pdb:1KQO|rcsb pdb:1KR2|reactome:R-HSA-196807|refseq:XP_016857596.1|dip:DIP-60881N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:KwV9lz04z3ptlVpKu3b534Yekpc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H9B1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-766087|uniprotkb:Q8TCN7|uniprotkb:Q96F53|uniprotkb:Q96JF1|uniprotkb:Q96KH4|uniprotkb:B1AQ58|uniprotkb:B1AQ59|uniprotkb:Q86X08|ensembl:ENSP00000417980 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ehmt1_human(display_long)|uniprotkb:KMT1D(gene name synonym)|uniprotkb:Histone H3-K9 methyltransferase 5(gene name synonym)|uniprotkb:Euchromatic histone-lysine N-methyltransferase 1(gene name synonym)|uniprotkb:G9a-like protein 1(gene name synonym)|uniprotkb:Lysine N-methyltransferase 1D(gene name synonym)|uniprotkb:EHMT1(gene name)|psi-mi:EHMT1(display_short)|uniprotkb:EUHMTASE1(gene name synonym)|uniprotkb:KIAA1876(gene name synonym)|uniprotkb:GLP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001138999.1|refseq:NP_079033.4|ensembl:ENST00000371394|ensembl:ENSP00000485945|ensembl:ENSP00000417980|ensembl:ENST00000462484|ensembl:ENSP00000417328|dip:DIP-34585N|ensembl:ENSG00000181090(gene)|ensembl:ENST00000460843(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0002039"(p53 binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0006306"(DNA methylation)|go:"GO:0006325"(chromatin organization)|go:"GO:0008168"(methyltransferase activity)|go:"GO:0008270"(zinc ion binding)|go:"GO:0016279"(protein-lysine N-methyltransferase activity)|go:"GO:0016571"(histone methylation)|go:"GO:0016604"(nuclear body)|go:"GO:0018024"(histone-lysine N-methyltransferase activity)|go:"GO:0018026"(peptidyl-lysine monomethylation)|go:"GO:0018027"(peptidyl-lysine dimethylation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045995"(regulation of embryonic development)|go:"GO:0046974"("histone methyltransferase activity (H3-K9 specific)")|go:"GO:0046976"("histone methyltransferase activity (H3-K27 specific)")|go:"GO:0060992"(response to fungicide)|go:"GO:0070742"(C2H2 zinc finger domain binding)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|interpro:IPR001214(SET)|interpro:IPR002110(Ankyrin)|interpro:IPR007728(Pre-SET zinc-binding region)|interpro:IPR020683|interpro:IPR036770|interpro:IPR038035|interpro:IPR043550|mint:Q9H9B1|rcsb pdb:2IGQ|rcsb pdb:2RFI|rcsb pdb:3B7B|rcsb pdb:3B95|rcsb pdb:3FPD|rcsb pdb:3HNA|rcsb pdb:3MO0|rcsb pdb:3MO2|rcsb pdb:3MO5|rcsb pdb:3SW9|rcsb pdb:3SWC|rcsb pdb:4I51|rcsb pdb:5TTG|rcsb pdb:5TUZ|rcsb pdb:5V9J|rcsb pdb:5VSD|rcsb pdb:5VSF|rcsb pdb:6BY9|rcsb pdb:6MBO|rcsb pdb:6MBP|reactome:R-HSA-2559582|reactome:R-HSA-3214841|reactome:R-HSA-6804760|reactome:R-HSA-8853884|reactome:R-HSA-8953750 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4L6QOGSsRPi8hDjS2/BYShjpnf89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H6R7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-346906|uniprotkb:D6W532|uniprotkb:Q8IYK0|uniprotkb:Q9HBP5|ensembl:ENSP00000295148 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:wdcp_human(display_long)|uniprotkb:WDCP(gene name)|psi-mi:WDCP(display_short)|uniprotkb:C2orf44(gene name synonym)|uniprotkb:PP384(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001135791.1|refseq:NP_079479.1|ensembl:ENSG00000163026(gene)|ensembl:ENST00000295148(transcript)|go:"GO:0019900"(kinase binding)|go:"GO:0051259"(protein complex oligomerization)|interpro:IPR028041|mint:Q9H6R7 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qT8Zfifj+1U5HvWjtXjKTiVj1OA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H3K6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1642537|uniprotkb:A1L454|uniprotkb:A7YDY3|ensembl:ENSP00000331127|ensembl:ENSP00000498355 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:bola2_human(display_long)|uniprotkb:BOLA2(gene name)|psi-mi:BOLA2(display_short)|uniprotkb:BOLA2B(gene name)|psi-mi:BOLA2B(display_short)|uniprotkb:BOLA2A(gene name synonym)|uniprotkb:My016(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001026997.1|refseq:NP_001034271.1|refseq:NP_001307508.1|refseq:XP_016855107.1|ensembl:ENSG00000169627(gene)|ensembl:ENSG00000183336(gene)|ensembl:ENST00000330978(transcript)|ensembl:ENST00000651894(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006879"(cellular iron ion homeostasis)|go:"GO:0044571"([2Fe-2S] cluster assembly)|go:"GO:0051536"(iron-sulfur cluster binding)|go:"GO:0097428"(protein maturation by iron-sulfur cluster transfer)|interpro:IPR002634(BolA-like protein)|interpro:IPR036065|mint:Q9H3K6|reactome:R-HSA-8950505 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5TcFdmQcwx5trexmXkWp9Arn5zE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H0U4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1045214|ensembl:ENSP00000310226|uniprotkb:A8K7S1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rab1b_human(display_long)|uniprotkb:RAB1B(gene name)|psi-mi:RAB1B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000174903(gene)|ensembl:ENST00000311481(transcript)|go:"GO:0000045"(autophagosome assembly)|go:"GO:0000139"(Golgi membrane)|go:"GO:0003924"(GTPase activity)|go:"GO:0003925"(G protein activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0012505"(endomembrane system)|go:"GO:0019068"(virion assembly)|go:"GO:0030133"(transport vesicle)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0034045"(phagophore assembly site membrane)|go:"GO:0048471"(perinuclear region of cytoplasm)|refseq:NP_112243.1|go:"GO:0070062"(extracellular exosome)|go:"GO:1903020"(positive regulation of glycoprotein metabolic process)|go:"GO:2000785"(regulation of autophagosome assembly)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|mint:Q9H0U4|rcsb pdb:3JZA|rcsb pdb:3NKV|rcsb pdb:4HLQ|rcsb pdb:4I1O|rcsb pdb:5O74|rcsb pdb:5SZH|rcsb pdb:5SZK|rcsb pdb:6SKU|reactome:R-HSA-162658|reactome:R-HSA-204005|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-8873719|reactome:R-HSA-8876198|dip:DIP-42462N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:EI6DHq7xCboSkoqGY5NmVY4Iqf09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BVK6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1056827|uniprotkb:Q8WZ61|uniprotkb:Q14437|ensembl:ENSP00000330945 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tmed9_human(display_long)|uniprotkb:TMED9(gene name)|psi-mi:TMED9(display_short)|uniprotkb:GP25L2(gene name synonym)|uniprotkb:Glycoprotein 25L2(gene name synonym)|uniprotkb:p25(gene name synonym)|uniprotkb:p24 family protein alpha-2(gene name synonym)|uniprotkb:GMP25(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_059980.2|ensembl:ENSG00000184840(gene)|ensembl:ENST00000332598(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0007030"(Golgi organization)|go:"GO:0008021"(synaptic vesicle)|go:"GO:0010638"(positive regulation of organelle organization)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019905"(syntaxin binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030134"(COPII-coated ER to Golgi transport vesicle)|go:"GO:0030140"(trans-Golgi network transport vesicle)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0048205"(COPI coating of Golgi vesicle)|go:"GO:0070062"(extracellular exosome)|interpro:IPR009038(GOLD)|interpro:IPR015720(TMP21 related)|mint:Q9BVK6|reactome:R-HSA-6807878|reactome:R-HSA-6811434 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:z5YDyY6mtnc4WGWU9G9sNgp+Ga09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BVA1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355665|uniprotkb:A8K068|ensembl:ENSP00000259818 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb2b_human(display_long)|uniprotkb:TUBB2B(gene name)|psi-mi:TUBB2B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_821080.1|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0001764"(neuron migration)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0050804"(modulation of chemical synaptic transmission)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:1902669"(positive regulation of axon guidance)|go:"GO:1990403"(embryonic brain development)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:Q9BVA1|rcsb pdb:6E7C|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620924|reactome:R-HSA-5626467|ensembl:ENST00000259818(transcript)|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|reactome:R-HSA-5663220|ensembl:ENSG00000137285(gene) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:sluQMryNuOvp6xlV558+agiRwvE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BUP0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1055068|uniprotkb:Q9BTF8|uniprotkb:Q9H8I2|uniprotkb:Q9HBQ0|uniprotkb:B2RD83|uniprotkb:E9PFH3|ensembl:ENSP00000264059 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:efhd1_human(display_long)|uniprotkb:EF-hand domain-containing protein 1(gene name synonym)|uniprotkb:Swiprosin-2(gene name synonym)|uniprotkb:EFHD1(gene name)|psi-mi:EFHD1(display_short)|uniprotkb:SWS2(gene name synonym)|uniprotkb:PP3051(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001295324.1|refseq:NP_079478.1|refseq:NP_001230181.1|ensembl:ENSG00000115468(gene)|ensembl:ENST00000264059(transcript)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005739"(mitochondrion)|go:"GO:0005743"(mitochondrial inner membrane)|go:"GO:0031175"(neuron projection development)|go:"GO:0061891"(calcium ion sensor activity)|go:"GO:1900069"(regulation of cellular hyperosmotic salinity response)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR040365 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PjArO1piM94yZHstQDZzkDN8cwI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BUM1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-20805122|ensembl:ENSP00000269097|uniprotkb:Q8WU15 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:g6pc3_human(display_long)|uniprotkb:G6PC3(gene name)|psi-mi:G6PC3(display_short)|uniprotkb:UGRP(gene name synonym)|uniprotkb:Glucose-6-phosphatase beta(gene name synonym)|uniprotkb:Ubiquitous glucose-6-phosphatase catalytic subunit-related protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000141349(gene)|ensembl:ENST00000269097(transcript)|go:"GO:0004346"(glucose-6-phosphatase activity)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0006094"(gluconeogenesis)|go:"GO:0015760"(glucose-6-phosphate transport)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0051156"(glucose 6-phosphate metabolic process)|interpro:IPR000326(Phosphatidic acid phosphatase type 2/haloperoxidase)|interpro:IPR016275(Glucose-6-phosphatase)|interpro:IPR036938|mint:Q9BUM1|reactome:R-HSA-3282872|reactome:R-HSA-70263|refseq:NP_612396.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HtRLCVEmG4tsmrYRZe7D6jjrVRQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BUF5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356735|uniprotkb:Q9HA42|ensembl:ENSP00000318697|uniprotkb:B3KM76 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb6_human(display_long)|uniprotkb:TUBB6(gene name)|psi-mi:TUBB6(display_short)|uniprotkb:Tubulin beta class V(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000176014(gene)|ensembl:ENST00000317702(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|refseq:NP_115914.1|interpro:IPR036525|interpro:IPR037103|mint:Q9BUF5|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|refseq:NP_001290453.1|refseq:NP_001290454.1|refseq:NP_001290455.1|refseq:NP_001290456.1|refseq:NP_001290457.1|refseq:NP_001290458.1|refseq:NP_001290459.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/IC9o8wSAOu+lNgq44Qqu5hEof49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BUA3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1773488|uniprotkb:Q68CV7|uniprotkb:Q6PHS2|uniprotkb:Q96IH0|ensembl:ENSP00000294244 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:spndc_human(display_long)|uniprotkb:SPINDOC(gene name)|psi-mi:SPINDOC(display_short)|uniprotkb:C11orf84(gene name synonym)|uniprotkb:SPIN1-docking protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_612480.1|ensembl:ENSG00000168005(gene)|ensembl:ENST00000294244(transcript)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|interpro:IPR040647|rcsb pdb:7CNA intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:E2x/R+y2xIJL91JjJ9ShbFFJL5g9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BTV4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-721293|uniprotkb:Q7L4N5|uniprotkb:Q8NC30|uniprotkb:Q96A63|uniprotkb:Q96F19|uniprotkb:Q96JX0|uniprotkb:Q9H076|ensembl:ENSP00000303992 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tmm43_human(display_long)|uniprotkb:TMEM43(gene name)|psi-mi:TMEM43(display_short)|uniprotkb:UNQ2564/PRO6244(orf name)|uniprotkb:Protein LUMA(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_077310.1|ensembl:ENSG00000170876(gene)|ensembl:ENST00000306077(transcript)|go:"GO:0005639"(integral component of nuclear inner membrane)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0042802"(identical protein binding)|go:"GO:0043621"(protein self-association)|go:"GO:0071763"(nuclear membrane organization)|interpro:IPR012430(Protein of unknown function DUF1625) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8VCyVNtrzh7J9uJ2EjQLBhJGrfc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BQI0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358576|uniprotkb:Q6ZR40|uniprotkb:Q8NAX7|uniprotkb:Q8WU47|uniprotkb:Q9H9G0|uniprotkb:B2RBC4|ensembl:ENSP00000247291 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:aif1l_human(display_long)|uniprotkb:UNQ672/PRO1306(orf name)|uniprotkb:AIF1L(gene name)|psi-mi:AIF1L(display_short)|uniprotkb:C9orf58(gene name synonym)|uniprotkb:IBA2(gene name synonym)|uniprotkb:Ionized calcium-binding adapter molecule 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001172024.1|refseq:NP_001172025.1|refseq:NP_113614.1|ensembl:ENSG00000126878(gene)|ensembl:ENST00000247291(transcript)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0032587"(ruffle membrane)|go:"GO:0032991"(protein-containing complex)|go:"GO:0051015"(actin filament binding)|go:"GO:0051017"(actin filament bundle assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097178"(ruffle assembly)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR028453|interpro:IPR042433|rcsb pdb:2JJZ|rcsb pdb:2VTG intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/FPBcx3gPhY4kmNrngZfmmN2D0A9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BQE3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1103245|ensembl:ENSP00000301072 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tba1c_human(display_long)|uniprotkb:TUBA1C(gene name)|psi-mi:TUBA1C(display_short)|uniprotkb:TUBA6(gene name synonym)|uniprotkb:Tubulin alpha-6 chain(gene name synonym)|uniprotkb:Alpha-tubulin 6(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|ensembl:ENSG00000167553(gene)|ensembl:ENST00000301072(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0005881"(cytoplasmic microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0030705"(cytoskeleton-dependent intracellular transport)|go:"GO:0031982"(vesicle)|go:"GO:0051301"(cell division)|interpro:IPR000217(Tubulin)|interpro:IPR002452(Alpha tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:Q9BQE3|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|refseq:NP_116093.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:53r1CNUJNgCreVCw4riUsTPh+yw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BQA1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1237307|uniprotkb:B3KMW6|uniprotkb:Q96GK4|uniprotkb:Q9BWY3|uniprotkb:Q3LID2|uniprotkb:Q53FU2|uniprotkb:Q6JZZ5|uniprotkb:B4DP38|ensembl:ENSP00000235090 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mep50_human(display_long)|uniprotkb:WDR77(gene name)|psi-mi:WDR77(display_short)|uniprotkb:MEP50(gene name synonym)|uniprotkb:WD repeat-containing protein 77(gene name synonym)|uniprotkb:Androgen receptor cofactor p44(gene name synonym)|uniprotkb:p44/Mep50(gene name synonym)|uniprotkb:HKMT1069(orf name)|uniprotkb:Nbla10071(orf name)|uniprotkb:WD45(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_077007.1|refseq:NP_001303991.1|refseq:NP_001303992.1|refseq:NP_001303993.1|dip:DIP-38172N|ensembl:ENSG00000116455(gene)|ensembl:ENST00000235090(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007315"(pole plasm assembly)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008327"(methyl-CpG binding)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0034709"(methylosome)|go:"GO:0045495"(pole plasm)|go:"GO:0060528"(secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development)|go:"GO:0060770"(negative regulation of epithelial cell proliferation involved in prostate gland development)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR036322|mint:Q9BQA1|rcsb pdb:4GQB|rcsb pdb:4X60|rcsb pdb:4X61|rcsb pdb:4X63|rcsb pdb:5C9Z|rcsb pdb:5EMJ|rcsb pdb:5EMK|rcsb pdb:5EML|rcsb pdb:5EMM|rcsb pdb:5FA5|rcsb pdb:6CKC|rcsb pdb:6K1S|rcsb pdb:6RLL|rcsb pdb:6RLQ|rcsb pdb:6UGH|rcsb pdb:6UXX|rcsb pdb:6UXY|rcsb pdb:6V0N|rcsb pdb:6V0O|rcsb pdb:6V0P|rcsb pdb:7KIB|rcsb pdb:7KIC|rcsb pdb:7KID|rcsb pdb:7L1G|rcsb pdb:7M05|reactome:R-HSA-191859|reactome:R-HSA-3214858 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0q4wunYtHalObC8r1wphhelIpr49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BQ39 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-395850|intact:EBI-2826089|uniprotkb:Q8WV76|uniprotkb:Q9BWI8|uniprotkb:Q5VX37|ensembl:ENSP00000362687 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ddx50_human(display_long)|uniprotkb:DEAD box protein 50(gene name synonym)|uniprotkb:Nucleolar protein Gu2(gene name synonym)|uniprotkb:Gu-beta(gene name synonym)|uniprotkb:DDX50(gene name)|psi-mi:DDX50(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_076950.1|ensembl:ENSG00000107625(gene)|ensembl:ENST00000373585(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005886"(plasma membrane)|go:"GO:0016020"(membrane)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR012562(GUCT)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR027417|interpro:IPR035979|mint:Q9BQ39|rcsb pdb:2E29|refseq:XP_016872115.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:a8/VHQw5HVQh6L/rbsKonz0R34c9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BPX5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-711189|ensembl:ENSP00000259477|ensembl:ENSP00000345361|uniprotkb:Q7Z523 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arp5l_human(display_long)|uniprotkb:Arp2/3 complex 16 kDa subunit 2(gene name synonym)|uniprotkb:ARPC5L(gene name)|psi-mi:ARPC5L(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_112240.1|ensembl:ENSG00000136950(gene)|ensembl:ENST00000259477(transcript)|ensembl:ENST00000353214(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0016477"(cell migration)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098978"(glutamatergic synapse)|interpro:IPR006789("ARP2/3 complex 16 kDa subunit (p16-Arc)")|interpro:IPR030075|interpro:IPR036743|mint:Q9BPX5|rcsb pdb:6YW6|dip:DIP-50399N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JVproBu8rIrnlk39yXPC+ZrvoOk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q99417 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-716185|intact:EBI-2559925|uniprotkb:Q5TA64|uniprotkb:Q96HE2|uniprotkb:B2R4N0|ensembl:ENSP00000380702 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mycbp_human(display_long)|uniprotkb:Associate of Myc 1(gene name synonym)|uniprotkb:MYCBP(gene name)|psi-mi:MYCBP(display_short)|uniprotkb:AMY1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036465.2|ensembl:ENSG00000214114(gene)|ensembl:ENST00000397572(transcript)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0007283"(spermatogenesis)|interpro:IPR026060|mint:Q99417|rcsb pdb:2YY0 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:jIStn1A10DDkgTuwVeKpDPJ6tIs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96SB3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351275|uniprotkb:Q8TCR9|intact:EBI-28984643|ensembl:ENSP00000478767|intact:EBI-4401886|uniprotkb:D3DTX6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:neb2_human(display_long)|uniprotkb:Neurabin-II(gene name synonym)|uniprotkb:Spinophilin(gene name synonym)|uniprotkb:Protein phosphatase 1 regulatory subunit 9B(gene name synonym)|uniprotkb:PPP1R9B(gene name)|psi-mi:PPP1R9B(display_short)|uniprotkb:PPP1R6(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000108819(gene)|ensembl:ENST00000612501(transcript)|go:"GO:0000164"(protein phosphatase type 1 complex)|go:"GO:0001560"(regulation of cell growth by extracellular stimulus)|go:"GO:0001932"(regulation of protein phosphorylation)|go:"GO:0001975"(response to amphetamine)|go:"GO:0003006"(developmental process involved in reproduction)|go:"GO:0004672"(protein kinase activity)|go:"GO:0004864"(protein phosphatase inhibitor activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0007015"(actin filament organization)|go:"GO:0007096"(regulation of exit from mitosis)|go:"GO:0007568"(aging)|go:"GO:0007612"(learning)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008157"(protein phosphatase 1 binding)|go:"GO:0008380"(RNA splicing)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016358"(dendrite development)|go:"GO:0016477"(cell migration)|go:"GO:0019722"(calcium-mediated signaling)|go:"GO:0019900"(kinase binding)|go:"GO:0021766"(hippocampus development)|go:"GO:0021987"(cerebral cortex development)|go:"GO:0030027"(lamellipodium)|go:"GO:0030042"(actin filament depolymerization)|go:"GO:0030175"(filopodium)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0030425"(dendrite)|go:"GO:0030426"(growth cone)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031175"(neuron projection development)|go:"GO:0031749"(D2 dopamine receptor binding)|go:"GO:0032515"(negative regulation of phosphoprotein phosphatase activity)|go:"GO:0032587"(ruffle membrane)|go:"GO:0034695"(response to prostaglandin E)|go:"GO:0035094"(response to nicotine)|go:"GO:0035690"|go:"GO:0035902"(response to immobilization stress)|go:"GO:0042127"(regulation of cell population proliferation)|go:"GO:0043025"(neuronal cell body)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0044326"(dendritic spine neck)|go:"GO:0044327"(dendritic spine head)|go:"GO:0046847"(filopodium assembly)|go:"GO:0048545"(response to steroid hormone)|go:"GO:0050804"(modulation of chemical synaptic transmission)|go:"GO:0051015"(actin filament binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0060179"(male mating behavior)|go:"GO:0061458"(reproductive system development)|go:"GO:0071315"(cellular response to morphine)|go:"GO:0071364"(cellular response to epidermal growth factor stimulus)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:0097338"(response to clozapine)|go:"GO:1901653"(cellular response to peptide)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|go:"GO:1903119"(protein localization to actin cytoskeleton)|go:"GO:1904372"(positive regulation of protein localization to actin cortical patch)|go:"GO:1904373"(response to kainic acid)|go:"GO:1904386"(response to L-phenylalanine derivative)|go:"GO:1990778"(protein localization to cell periphery)|go:"GO:1990780"(cytoplasmic side of dendritic spine plasma membrane)|go:"GO:2000474"(regulation of opioid receptor signaling pathway)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR029921|interpro:IPR036034|interpro:IPR040645|interpro:IPR043446|mint:Q96SB3|ensembl:ENSP00000478767|refseq:NP_115984.3 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:X6fQLpaYhXCqzRlQNEoX67P/HbU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96PK6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-954272|ensembl:ENSP00000311747|uniprotkb:O75932|uniprotkb:Q53GV1|uniprotkb:Q68DQ9|uniprotkb:Q96PK5|uniprotkb:B3KMN4|uniprotkb:Q2PYN1|uniprotkb:D6RGD8|uniprotkb:B0LM41|intact:EBI-16430855|intact:EBI-16472484 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rbm14_human(display_long)|uniprotkb:RNA-binding motif protein 14(gene name synonym)|uniprotkb:RRM-containing coactivator activator/modulator(gene name synonym)|uniprotkb:Synaptotagmin-interacting protein(gene name synonym)|uniprotkb:RBM14(gene name)|psi-mi:RBM14(display_short)|uniprotkb:SIP(gene name synonym)|uniprotkb:Paraspeckle protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000239306(gene)|ensembl:ENST00000310137(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0002218"(activation of innate immune response)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0009725"(response to hormone)|go:"GO:0016575"(histone deacetylation)|go:"GO:0016607"(nuclear speck)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0045087"(innate immune response)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046600"(negative regulation of centriole replication)|go:"GO:0060395"(SMAD protein signal transduction)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034506|interpro:IPR034507|go:"GO:0098534"(centriole assembly)|interpro:IPR035979|mint:Q96PK6|rcsb pdb:2DNP|reactome:R-HSA-8941326|refseq:NP_001185765.1|refseq:NP_006319.1|ensembl:ENSP00000311747|ensembl:ENST00000393979|ensembl:ENSP00000377548|ensembl:ENST00000409738|ensembl:ENSP00000386995|refseq:NP_001185766.1|refseq:NP_001185774.1|dip:DIP-50126N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Q0UBl2qmfwQTPwUQ7ZDwGIMOYoA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96N67 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2433703|uniprotkb:Q00M63|uniprotkb:Q2PPY7|uniprotkb:Q45RE8|uniprotkb:Q45RE9|uniprotkb:Q5T1B9|uniprotkb:Q5T1C0|uniprotkb:Q6ZV32|uniprotkb:Q8TB82|uniprotkb:Q96NG6|uniprotkb:Q9C092|intact:EBI-7303260|intact:MINT-1683616|uniprotkb:Q96NI0|intact:EBI-28980506|ensembl:ENSP00000489124 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011540628.1|refseq:NP_001258931.1|refseq:NP_212132.2|ensembl:ENST00000251157|ensembl:ENSP00000251157|ensembl:ENST00000340370|ensembl:ENSP00000340742|ensembl:ENST00000404627|ensembl:ENSP00000384446|ensembl:ENST00000454575|ensembl:ENSP00000413583|ensembl:ENST00000634264|ensembl:ENSP00000489284|ensembl:ENST00000635123|ensembl:ENSP00000489499|ensembl:ENSP00000489124|refseq:NP_001258928.1|refseq:NP_001258929.1|refseq:NP_001258930.1|refseq:NP_001317543.1|ensembl:ENSG00000116641(gene)|ensembl:ENST00000635253(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005925"(focal adhesion)|go:"GO:0007264"(small GTPase mediated signal transduction)|go:"GO:0007409"(axonogenesis)|go:"GO:0022027"(interkinetic nuclear migration)|go:"GO:0030424"(axon)|go:"GO:0030426"(growth cone)|go:"GO:0031175"(neuron projection development)|go:"GO:0031267"(small GTPase binding)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0043005"(neuron projection)|go:"GO:0045178"(basal part of cell)|go:"GO:0045200"(establishment of neuroblast polarity)|go:"GO:0050767"(regulation of neurogenesis)|go:"GO:0090630"(activation of GTPase activity)|go:"GO:0120163"(negative regulation of cold-induced thermogenesis)|go:"GO:1904754"(positive regulation of vascular associated smooth muscle cell migration)|interpro:IPR010703(Dedicator of cytokinesis)|interpro:IPR021816|interpro:IPR026791|interpro:IPR027007|interpro:IPR027357|interpro:IPR035892|interpro:IPR037808|interpro:IPR043161|interpro:IPR043162|mint:Q96N67|rcsb pdb:6AJ4|rcsb pdb:6AJL|reactome:R-HSA-8875555|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-983231 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96MY1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6660790|ensembl:ENSP00000352704|uniprotkb:Q9NQF6|uniprotkb:Q9BR34|uniprotkb:Q6P0Y4|uniprotkb:Q5JYB7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nol4l_human(display_long)|uniprotkb:NOL4L(gene name)|psi-mi:NOL4L(display_short)|uniprotkb:C20orf112(gene name synonym)|uniprotkb:C20orf113(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_016883158.1|ensembl:ENSG00000197183(gene)|ensembl:ENST00000359676(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|interpro:IPR026746|interpro:IPR039788|refseq:NP_001243727.1|refseq:NP_542183.2|refseq:XP_005260345.1|refseq:XP_005260346.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:r1tkeJjKBiM9H7BO/1RzYKi5fvA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96JN0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-746045|uniprotkb:Q9H945|uniprotkb:Q9Y457|ensembl:ENSP00000348298|ensembl:ENSP00000360138|ensembl:ENSP00000360144|ensembl:ENSP00000501560|ensembl:ENSP00000501639|ensembl:ENSP00000502633|intact:EBI-8833163|uniprotkb:D3DR47|uniprotkb:Q5VW16|uniprotkb:Q7Z723|uniprotkb:Q86T32|uniprotkb:Q86T33|uniprotkb:Q8N3L6|uniprotkb:Q8N655 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lcor_human(display_long)|uniprotkb:LCOR(gene name)|psi-mi:LCOR(display_short)|uniprotkb:C10orf12(gene name synonym)|uniprotkb:KIAA1795(gene name synonym)|uniprotkb:MLR2(gene name synonym)|uniprotkb:Mblk1-related protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000196233(gene)|ensembl:ENST00000356016(transcript)|ensembl:ENST00000371097(transcript)|ensembl:ENST00000371103(transcript)|ensembl:ENST00000675471(transcript)|ensembl:ENST00000675537(transcript)|ensembl:ENST00000675971(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003677"(DNA binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0030331"(estrogen receptor binding)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:1990226"(histone methyltransferase binding)|go:"GO:1990381"(ubiquitin-specific protease binding)|interpro:IPR007889(Helix-turn-helix, Psq)|interpro:IPR009057(Homeodomain-like)|mint:Q96JN0|rcsb pdb:2COB|refseq:NP_001164236.1|refseq:NP_001164237.1|refseq:NP_115816.2|refseq:XP_016872275.1|refseq:XP_016872276.1|refseq:XP_016872277.1|refseq:NP_001333445.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:cOnk6EDDff86yaG1uG+dxEQ1Z689606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96JM2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1210359|uniprotkb:Q8N408|uniprotkb:Q5T0T4|intact:EBI-28975500|ensembl:ENSP00000277225 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn462_human(display_long)|uniprotkb:ZNF462(gene name)|psi-mi:ZNF462(display_short)|uniprotkb:KIAA1803(gene name synonym)|uniprotkb:Zinc finger PBX1-interacting protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_067047.4|ensembl:ENSP00000277225|ensembl:ENST00000441147|ensembl:ENSP00000397306|refseq:XP_006717278.1|refseq:XP_006717279.1|dip:DIP-39340N|ensembl:ENSG00000148143(gene)|ensembl:ENST00000277225(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006325"(chromatin organization)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0043392"(negative regulation of DNA binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|mint:Q96JM2|rcsb pdb:1X6F intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ftIOu4wVkBWJw+4aHw+R+nN44Vc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96AG4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358888|uniprotkb:Q9P189|uniprotkb:D3DTX8|ensembl:ENSP00000225972|uniprotkb:B2RE83 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lrc59_human(display_long)|uniprotkb:LRRC59(gene name)|psi-mi:LRRC59(display_short)|uniprotkb:Ribosome-binding protein p34(gene name synonym)|uniprotkb:PRO1855(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_060979.2|ensembl:ENSG00000108829(gene)|ensembl:ENST00000225972(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0007165"(signal transduction)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0042645"(mitochondrial nucleoid)|go:"GO:0045296"(cadherin binding)|go:"GO:0046579"(positive regulation of Ras protein signal transduction)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR003591(Leucine-rich repeat, typical subtype)|interpro:IPR032675|mint:Q96AG4 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:gAtWed9Jv69oHdkEFgpWGFnvcWE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q969X5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-781527|uniprotkb:Q9H0L0|uniprotkb:Q9H2J2|uniprotkb:Q9ULN9|ensembl:ENSP00000377374 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ergi1_human(display_long)|uniprotkb:ER-Golgi intermediate compartment 32 kDa protein(gene name synonym)|uniprotkb:ERGIC1(gene name)|psi-mi:ERGIC1(display_short)|uniprotkb:KIAA1181(gene name synonym)|uniprotkb:HT034(orf name)|uniprotkb:ERGIC32(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_006714955.1|refseq:NP_001026881.1|ensembl:ENSG00000113719(gene)|ensembl:ENST00000393784(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006890"(retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum)|go:"GO:0016020"(membrane)|go:"GO:0030134"(COPII-coated ER to Golgi transport vesicle)|go:"GO:0030173"(integral component of Golgi membrane)|go:"GO:0030176"(integral component of endoplasmic reticulum membrane)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0043231"(intracellular membrane-bounded organelle)|interpro:IPR012936(Protein of unknown function DUF1692)|interpro:IPR039542 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:UbuPGmvwVwrwg/LT5oAn9pLs5Hw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92900 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-373471|uniprotkb:O00239|uniprotkb:O43343|uniprotkb:Q86Z25|uniprotkb:Q92842|ensembl:ENSP00000470142 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rent1_human(display_long)|uniprotkb:UPF1(gene name)|psi-mi:UPF1(display_short)|uniprotkb:RENT1(gene name synonym)|uniprotkb:KIAA0221(gene name synonym)|uniprotkb:ATP-dependent helicase RENT1(gene name synonym)|uniprotkb:Nonsense mRNA reducing factor 1(gene name synonym)|uniprotkb:Up-frameshift suppressor 1 homolog(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002902.2|refseq:NP_001284478.1|go:"GO:0000184"(nuclear-transcribed mRNA catabolic process, nonsense-mediated decay)|go:"GO:0000294"(nuclear-transcribed mRNA catabolic process, endonucleolytic cleavage-dependent decay)|ensembl:ENSG00000005007(gene)|ensembl:ENST00000599848(transcript)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000785"(chromatin)|go:"GO:0000932"(P-body)|go:"GO:0000956"(nuclear-transcribed mRNA catabolic process)|go:"GO:0003682"(chromatin binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0004386"(helicase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006260"(DNA replication)|go:"GO:0006281"(DNA repair)|go:"GO:0006449"(regulation of translational termination)|go:"GO:0008270"(zinc ion binding)|go:"GO:0009048"(dosage compensation by inactivation of X chromosome)|go:"GO:0016787"(hydrolase activity)|go:"GO:0032201"(telomere maintenance via semi-conservative replication)|go:"GO:0032204"(regulation of telomere maintenance)|go:"GO:0035145"(exon-exon junction complex)|go:"GO:0042162"(telomeric DNA binding)|go:"GO:0044530"(supraspliceosomal complex)|go:"GO:0044770"(cell cycle phase transition)|go:"GO:0061014"(positive regulation of mRNA catabolic process)|go:"GO:0061158"(3'-UTR-mediated mRNA destabilization)|go:"GO:0071044"(histone mRNA catabolic process)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071347"(cellular response to interleukin-1)|interpro:IPR006935(Restriction endonuclease, type I, R subunit/Type III, Res subunit)|interpro:IPR018999|interpro:IPR027417|interpro:IPR040812|interpro:IPR041677|interpro:IPR041679|mint:Q92900|rcsb pdb:2GJK|rcsb pdb:2GK6|rcsb pdb:2GK7|rcsb pdb:2IYK|rcsb pdb:2WJV|rcsb pdb:2WJY|rcsb pdb:2XZO|rcsb pdb:2XZP|rcsb pdb:6EJ5|rcsb pdb:6Z3R|reactome:R-HSA-975956|reactome:R-HSA-975957|go:"GO:0006406"(mRNA export from nucleus)|dip:DIP-29875N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ORqXFPAa7qA8cwM5qcNodIF0q/s9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92769 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-301821|uniprotkb:Q5SRI8|uniprotkb:Q5SZ86|uniprotkb:Q8NEH4|uniprotkb:B4DL58|ensembl:ENSP00000430432|uniprotkb:E1P561|uniprotkb:B3KRS5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hdac2_human(display_long)|uniprotkb:HDAC2(gene name)|psi-mi:HDAC2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0009913"(epidermal cell differentiation)|go:"GO:0010718"(positive regulation of epithelial to mesenchymal transition)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0016358"(dendrite development)|go:"GO:0016575"(histone deacetylation)|go:"GO:0016580"(Sin3 complex)|go:"GO:0016581"(NuRD complex)|go:"GO:0019213"(deacetylase activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0031000"(response to caffeine)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0032041"("NAD-dependent histone deacetylase activity (H3-K14 specific)")|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032732"(positive regulation of interleukin-1 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032967"(positive regulation of collagen biosynthetic process)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033558"(protein deacetylase activity)|go:"GO:0034605"(cellular response to heat)|go:"GO:0035094"(response to nicotine)|go:"GO:0035098"("ESC/E(Z) complex")|go:"GO:0042220"(response to cocaine)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0042493"|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042733"(embryonic digit morphogenesis)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043044"|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043392"(negative regulation of DNA binding)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045347"(negative regulation of MHC class II biosynthetic process)|go:"GO:0045862"(positive regulation of proteolysis)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048149"(behavioral response to ethanol)|go:"GO:0004407"(histone deacetylase activity)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0055093"(response to hyperoxia)|go:"GO:0060789"(hair follicle placode formation)|go:"GO:0061000"(negative regulation of dendritic spine development)|go:"GO:0061029"(eyelid development in camera-type eye)|go:"GO:0061198"(fungiform papilla formation)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070301"(cellular response to hydrogen peroxide)|go:"GO:0070829"(obsolete heterochromatin maintenance)|go:"GO:0070932"(histone H3 deacetylation)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:0071300"(cellular response to retinoic acid)|go:"GO:0071560"(cellular response to transforming growth factor beta stimulus)|go:"GO:1902437"(positive regulation of male mating behavior)|go:"GO:1903351"(cellular response to dopamine)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:2000273"(positive regulation of signaling receptor activity)|go:"GO:2000757"(negative regulation of peptidyl-lysine acetylation)|interpro:IPR000286(Histone deacetylase superfamily)|interpro:IPR003084(Histone deacetylase)|interpro:IPR023696|interpro:IPR023801|interpro:IPR037138|mint:Q92769|rcsb pdb:3MAX|rcsb pdb:4LXZ|rcsb pdb:4LY1|rcsb pdb:5IWG|rcsb pdb:5IX0|rcsb pdb:6G3O|rcsb pdb:6WBW|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|ensembl:ENSG00000196591(gene)|ensembl:ENST00000519065(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0001975"(response to amphetamine)|go:"GO:0003300"(cardiac muscle hypertrophy)|go:"GO:0003682"(chromatin binding)|go:"GO:0003723"(RNA binding)|rcsb pdb:6WHN|rcsb pdb:6WHO|rcsb pdb:6WHQ|rcsb pdb:6WHZ|rcsb pdb:6WI3|rcsb pdb:6XDM|rcsb pdb:6XEB|rcsb pdb:6XEC|rcsb pdb:7KBG|rcsb pdb:7KBH|rcsb pdb:7LTG|rcsb pdb:7LTK|rcsb pdb:7LTL|reactome:R-HSA-193670|reactome:R-HSA-2122947|reactome:R-HSA-2644606|reactome:R-HSA-2894862|reactome:R-HSA-3214815|reactome:R-HSA-350054|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-4551638|reactome:R-HSA-6804758|reactome:R-HSA-73762|reactome:R-HSA-8943724|reactome:R-HSA-9022692|reactome:R-HSA-9022699|reactome:R-HSA-9615017|reactome:R-HSA-9619665|reactome:R-HSA-9679191|reactome:R-HSA-983231|rcsb pdb:6WBZ|refseq:NP_001518.3|dip:DIP-24220N|refseq:XP_011534090.1|refseq:XP_016866288.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:K4PpGz9E9/TrQZsgvrJuc+uYCn89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92747 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1020827|uniprotkb:Q7Z5U8|uniprotkb:Q86WU5|uniprotkb:Q8IXQ0|uniprotkb:A4D276|uniprotkb:D6W5S1|ensembl:ENSP00000262942|uniprotkb:B4DLQ7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arc1a_human(display_long)|uniprotkb:ARPC1A(gene name)|psi-mi:ARPC1A(display_short)|uniprotkb:SOP2L(gene name synonym)|uniprotkb:SOP2-like protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006400.2|ensembl:ENSG00000241685(gene)|ensembl:ENST00000262942(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR017383(Actin-related protein 2/3 complex, subunit 1)|interpro:IPR030140|interpro:IPR036322|mint:Q92747|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|dip:DIP-33142N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ACqXC+XYl9R9Z7mHhpw7vt1SPu49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92618 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2799490|intact:EBI-28975450|ensembl:ENSP00000394757 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn516_human(display_long)|uniprotkb:KIAA0222(gene name synonym)|uniprotkb:ZNF516(gene name)|psi-mi:ZNF516(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000394757|refseq:XP_011524571.1|refseq:XP_011524572.1|refseq:XP_011524573.1|refseq:XP_011524574.1|refseq:XP_011524575.1|refseq:XP_011524576.1|refseq:XP_011524577.1|refseq:NP_055458.1|ensembl:ENSG00000101493(gene)|ensembl:ENST00000443185(transcript)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0000987"(cis-regulatory region sequence-specific DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0009409"(response to cold)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|go:"GO:0050873"(brown fat cell differentiation)|go:"GO:0060612"(adipose tissue development)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|mint:Q92618|refseq:XP_016881586.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:L9yQp1u4G/AN1L79Bg8odnkiPi89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8WWY3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1567797|uniprotkb:Q8N7F9|uniprotkb:Q9H271|uniprotkb:Q9Y439|uniprotkb:Q17RB4|intact:EBI-10177194|uniprotkb:F1T0A5|uniprotkb:E7ESA8|uniprotkb:F1T0A4|ensembl:ENSP00000324122|ensembl:ENSP00000483929 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:prp31_human(display_long)|uniprotkb:Pre-mRNA-processing factor 31(gene name synonym)|uniprotkb:U4/U6 snRNP 61 kDa protein(gene name synonym)|uniprotkb:Serologically defined breast cancer antigen NY-BR-99(gene name synonym)|uniprotkb:PRPF31(gene name)|psi-mi:PRPF31(display_short)|uniprotkb:PRP31(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_006723200.1|refseq:NP_056444.3|ensembl:ENSG00000105618(gene)|ensembl:ENSG00000275885(gene)|ensembl:ENST00000321030(transcript)|ensembl:ENST00000613693(transcript)|go:"GO:0000244"(spliceosomal tri-snRNP complex assembly)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005684"(U2-type spliceosomal complex)|go:"GO:0071339"(MLL1 complex)|go:"GO:0097526"(spliceosomal tri-snRNP complex)|go:"GO:0005687"(U4 snRNP)|go:"GO:0005690"(U4atac snRNP)|go:"GO:0015030"(Cajal body)|go:"GO:0016607"(nuclear speck)|interpro:IPR002687(Pre-mRNA processing ribonucleoprotein, binding region)|go:"GO:0030621"(U4 snRNA binding)|go:"GO:0030622"(U4atac snRNA binding)|go:"GO:0042802"(identical protein binding)|interpro:IPR012976(NOSIC)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0046540"(U4/U6 x U5 tri-snRNP complex)|go:"GO:0070990"(snRNP binding)|interpro:IPR019175|interpro:IPR027105|go:"GO:0071005"(U2-type precatalytic spliceosome)|go:"GO:0071011"(precatalytic spliceosome)|go:"GO:0071166"(ribonucleoprotein complex localization)|interpro:IPR036070|interpro:IPR042239|mint:Q8WWY3|rcsb pdb:2OZB|rcsb pdb:3JCR|rcsb pdb:3SIU|rcsb pdb:3SIV|rcsb pdb:5O9Z|rcsb pdb:6AH0|rcsb pdb:6AHD|rcsb pdb:6QW6|rcsb pdb:6QX9|reactome:R-HSA-72163 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:NsXY3tY7Y2EEK8rxoisqlfpzuf89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8WVC2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10276945|ensembl:ENSP00000388332 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:q8wvc2_human(display_long)|uniprotkb:RPS21(gene name)|psi-mi:RPS21(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000171858(gene)|ensembl:ENST00000450116(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001931(Ribosomal protein S21e)|interpro:IPR018279|interpro:IPR038579 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7TrXVkTVYP1Z3LvgeEAQqa3nWow9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8TED9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1053644|uniprotkb:Q08AN4|uniprotkb:Q08AN5|uniprotkb:Q8IW82|uniprotkb:Q8N8Z5|uniprotkb:Q8N9Q4|ensembl:ENSP00000296721 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:af1l1_human(display_long)|uniprotkb:AFAP1L1(gene name)|psi-mi:AFAP1L1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001139809.1|refseq:NP_689619.1|refseq:NP_001309991.1|refseq:NP_001309992.1|ensembl:ENSG00000157510(gene)|ensembl:ENST00000296721(transcript)|go:"GO:0002102"(podosome)|go:"GO:0005829"(cytosol)|go:"GO:0017124"(SH3 domain binding)|go:"GO:0030054"(cell junction)|go:"GO:0042995"(cell projection)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR030112|interpro:IPR030113 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZQdgj6z1yyjJo/wJZYhAuAYmUDw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8TDN6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1052326|uniprotkb:Q3ZTT4|uniprotkb:Q8N453|uniprotkb:Q96DH1|uniprotkb:A8K0P5|ensembl:ENSP00000338862 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:brx1_human(display_long)|uniprotkb:BRIX1(gene name)|psi-mi:BRIX1(display_short)|uniprotkb:BXDC2(gene name synonym)|uniprotkb:BRIX(gene name synonym)|uniprotkb:Brix domain-containing protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_060791.3|ensembl:ENSG00000113460(gene)|ensembl:ENST00000336767(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0003723"(RNA binding)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0006364"(rRNA processing)|go:"GO:0019843"(rRNA binding)|interpro:IPR007109(Brix)|interpro:IPR026532|mint:Q8TDN6 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Xa2UDOXgdmWyJ7qBZsdInDt9Vaw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8TCT9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-347472|uniprotkb:Q540H8|uniprotkb:Q5JWP2|uniprotkb:Q5JWP3|uniprotkb:Q5JWP4|uniprotkb:Q5JWP5|uniprotkb:Q7Z4F2|uniprotkb:Q86Y35|uniprotkb:Q95H87|uniprotkb:Q9H110|uniprotkb:Q9H111|uniprotkb:Q15K36|uniprotkb:B2RAY5|uniprotkb:E1P5L3|ensembl:ENSP00000343032 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hm13_human(display_long)|uniprotkb:HM13(gene name)|psi-mi:HM13(display_short)|uniprotkb:H13(gene name synonym)|uniprotkb:PSL3(gene name synonym)|uniprotkb:SPP(gene name synonym)|uniprotkb:Signal peptide peptidase(gene name synonym)|uniprotkb:Presenilin-like protein 3(gene name synonym)|uniprotkb:Intramembrane protease 1(gene name synonym)|uniprotkb:IMP1(gene name synonym)|uniprotkb:MSTP086(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_110416.1|refseq:NP_848695.1|refseq:NP_848696.1|refseq:NP_848697.1|ensembl:ENSG00000101294(gene)|ensembl:ENST00000340852(transcript)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005886"(plasma membrane)|go:"GO:0006465"(signal peptide processing)|go:"GO:0008233"(peptidase activity)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0033619"(membrane protein proteolysis)|go:"GO:0036513"(Derlin-1 retrotranslocation complex)|go:"GO:0042500"(aspartic endopeptidase activity, intramembrane cleaving)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0061960"(regulation of heme oxygenase activity)|go:"GO:0071458"(integral component of cytoplasmic side of endoplasmic reticulum membrane)|go:"GO:0071556"(integral component of lumenal side of endoplasmic reticulum membrane)|go:"GO:1904211"(membrane protein proteolysis involved in retrograde protein transport, ER to cytosol)|interpro:IPR006639(Peptidase A22, presenilin signal peptide)|interpro:IPR007369(Peptidase A22B, signal peptide peptidase)|reactome:R-HSA-9707587 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:DxNjJDcc+zomfXAj0TEaByKeNqc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8NC51 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-523558|uniprotkb:Q8WUH0|uniprotkb:Q96SE2|uniprotkb:Q9BTY3|uniprotkb:Q9BUM4|uniprotkb:Q9Y367|uniprotkb:Q9Y4S3|uniprotkb:Q5VU19|intact:EBI-1058614|ensembl:ENSP00000360034|uniprotkb:Q5VU20|uniprotkb:Q5VU22 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pairb_human(display_long)|uniprotkb:PAI1 RNA-binding protein 1(gene name synonym)|uniprotkb:SERPINE1 mRNA-binding protein 1(gene name synonym)|uniprotkb:CGI-55(orf name)|uniprotkb:SERBP1(gene name)|psi-mi:SERBP1(display_short)|uniprotkb:PAIRBP1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000142864(gene)|ensembl:ENST00000370995(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0016020"(membrane)|go:"GO:0030578"(PML body organization)|go:"GO:0032183"(SUMO binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043022"(ribosome binding)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0045296"(cadherin binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0070062"(extracellular exosome)|interpro:IPR006861(Hyaluronan/mRNA binding protein)|interpro:IPR027205|interpro:IPR032381|interpro:IPR039764|mint:Q8NC51|rcsb pdb:4V6X|rcsb pdb:6Z6M|rcsb pdb:6Z6N|refseq:NP_001018077.1|refseq:NP_001018078.1|refseq:NP_001018079.1|refseq:NP_056455.3|dip:DIP-33819N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:lVkIPRkoXs3B4Qop1pA2zG/RKlo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8N556 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-3893163|uniprotkb:A8K442|uniprotkb:Q59EY5|uniprotkb:Q9HBY1|uniprotkb:B4DMU2|uniprotkb:E9PDT7|ensembl:ENSP00000351245|ensembl:ENSP00000353402 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:afap1_human(display_long)|uniprotkb:AFAP1(gene name)|psi-mi:AFAP1(display_short)|uniprotkb:AFAP(gene name synonym)|uniprotkb:110 kDa actin filament-associated protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011511846.1|refseq:NP_001128119.1|refseq:NP_940997.1|ensembl:ENSG00000196526(gene)|ensembl:ENST00000358461(transcript)|ensembl:ENST00000360265(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0009966"(regulation of signal transduction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0017124"(SH3 domain binding)|go:"GO:0042169"(SH2 domain binding)|go:"GO:0051493"(regulation of cytoskeleton organization)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR029907|interpro:IPR030113 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:RhPsp6U+J4FoLPSuXCw0KChvMOg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8N3V7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352936|intact:EBI-28982054|ensembl:ENSP00000377789|ensembl:ENSP00000428378|uniprotkb:O15271|uniprotkb:Q9UPX1|uniprotkb:A5PKZ8|uniprotkb:D3DQG8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:synpo_human(display_long)|uniprotkb:SYNPO(gene name)|psi-mi:SYNPO(display_short)|uniprotkb:KIAA1029(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000171992(gene)|ensembl:ENST00000394243(transcript)|ensembl:ENST00000522122(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030018"(Z disc)|go:"GO:0032233"(positive regulation of actin filament bundle assembly)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0051492"(regulation of stress fiber assembly)|go:"GO:0097444"(spine apparatus)|go:"GO:1905355"(spine apparatus assembly)|interpro:IPR028753|mint:Q8N3V7|go:"GO:0098886"(modification of dendritic spine)|refseq:NP_001103444.1|refseq:NP_001159680.1|refseq:NP_001159681.1|refseq:NP_009217.3|ensembl:ENST00000307662|ensembl:ENSP00000302139|ensembl:ENSP00000377789|ensembl:ENST00000519664|ensembl:ENSP00000429268|ensembl:ENSP00000428378|refseq:XP_011535854.1|refseq:XP_005268427.1|refseq:XP_005268428.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rCCRVthnF+JTqcwh9lD+GFoWIpo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q86V48 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350467|uniprotkb:Q5TH93|uniprotkb:Q8N4X3|uniprotkb:Q8TEH1|ensembl:ENSP00000303758|ensembl:ENSP00000393460 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:luzp1_human(display_long)|uniprotkb:LUZP1(gene name)|psi-mi:LUZP1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001136018.1|refseq:NP_361013.3|refseq:XP_011540392.1|refseq:XP_011540393.1|ensembl:ENSG00000169641(gene)|ensembl:ENST00000302291(transcript)|ensembl:ENST00000418342(transcript)|go:"GO:0003281"(ventricular septum development)|go:"GO:0005634"(nucleus)|go:"GO:0016020"(membrane)|go:"GO:0021503"(neural fold bending)|go:"GO:0060840"(artery development)|go:"GO:0070062"(extracellular exosome)|interpro:IPR026734|mint:Q86V48|refseq:XP_016857741.1|dip:DIP-33113N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:l456S0i3H1z5fv6M4SNkdrls/c49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q86SQ0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2798483|uniprotkb:Q68CY3|uniprotkb:Q8NCU5|uniprotkb:Q6NT98|uniprotkb:Q59EA8|uniprotkb:A5PKZ3|uniprotkb:Q8N8U8|uniprotkb:Q8NAB1|ensembl:ENSP00000377502|ensembl:ENSP00000405405 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:phlb2_human(display_long)|uniprotkb:LL5B(gene name synonym)|uniprotkb:Protein LL5-beta(gene name synonym)|uniprotkb:PHLDB2(gene name)|psi-mi:PHLDB2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001127909.1|refseq:NP_001127910.1|refseq:NP_001127911.1|refseq:NP_665696.1|ensembl:ENSG00000144824(gene)|ensembl:ENST00000393925(transcript)|ensembl:ENST00000431670(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0010470"(regulation of gastrulation)|go:"GO:0010717"(regulation of epithelial to mesenchymal transition)|go:"GO:0031252"(cell leading edge)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0045180"(basal cortex)|go:"GO:0045184"(establishment of protein localization)|go:"GO:0045296"(cadherin binding)|go:"GO:0051497"(negative regulation of stress fiber assembly)|go:"GO:0051895"(negative regulation of focal adhesion assembly)|go:"GO:0070507"(regulation of microtubule cytoskeleton organization)|go:"GO:1904261"(positive regulation of basement membrane assembly involved in embryonic body morphogenesis)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR037810|go:"GO:1903690"(negative regulation of wound healing, spreading of epidermal cells)|dip:DIP-42196N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:T5YIJ7WjxQlZKWAd/28wh3Znui89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q7KZF4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1044112|uniprotkb:Q13122|ensembl:ENSP00000346762|uniprotkb:Q96AG0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:snd1_human(display_long)|uniprotkb:100 kDa coactivator(gene name synonym)|uniprotkb:EBNA2 coactivator p100(gene name synonym)|uniprotkb:Tudor domain-containing protein 11(gene name synonym)|uniprotkb:SND1(gene name)|psi-mi:SND1(display_short)|uniprotkb:p100 co-activator(gene name synonym)|uniprotkb:TDRD11(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_055205.2|ensembl:ENSG00000197157(gene)|ensembl:ENST00000354725(transcript)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003712"(transcription coregulator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0004518"(nuclease activity)|go:"GO:0004519"(endonuclease activity)|go:"GO:0004521"(endoribonuclease activity)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006401"(RNA catabolic process)|go:"GO:0010564"(regulation of cell cycle process)|go:"GO:0010587"(miRNA catabolic process)|go:"GO:0016020"(membrane)|go:"GO:0016442"(RISC complex)|go:"GO:0031047"(gene silencing by RNA)|go:"GO:0042470"(melanosome)|go:"GO:0045296"(cadherin binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097433"(dense body)|go:"GO:1905172"(RISC complex binding)|interpro:IPR002071(Thermonuclease active site)|interpro:IPR002999(Tudor)|interpro:IPR016071("Staphylococcal nuclease (SNase-like), OB-fold")|interpro:IPR016685(RNA-induced silencing complex, nuclease component Tudor-SN)|interpro:IPR035437|mint:Q7KZF4|rcsb pdb:2E6N|rcsb pdb:2HQE|rcsb pdb:2HQX|rcsb pdb:2O4X|rcsb pdb:3BDL|rcsb pdb:3OMC|rcsb pdb:3OMG|rcsb pdb:4QMG|rcsb pdb:5M9O|reactome:R-HSA-6802952|dip:DIP-29613N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:I9JNlRfASs5dwk0JZQ+F+GsW94g9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q71UI9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2954755|ensembl:ENSP00000308405|uniprotkb:A8MQC5|uniprotkb:Q6PK98|uniprotkb:Q59GV8|uniprotkb:A6NN01|uniprotkb:A6NKY0|uniprotkb:A6NFA8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2av_human(display_long)|uniprotkb:H2AZ2(gene name)|psi-mi:H2AZ2(display_short)|uniprotkb:H2A.F/Z(gene name synonym)|uniprotkb:H2A.Z variant histone 2(gene name synonym)|uniprotkb:H2AFV(gene name synonym)|uniprotkb:H2AV(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR007125(Histone core)|interpro:IPR002119(Histone H2A)|interpro:IPR009072(Histone-fold)|interpro:IPR032454|interpro:IPR032458|rcsb pdb:3WAA|rcsb pdb:6M4D|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214858|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-606279|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-912446|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-9018519|ensembl:ENSG00000105968(gene)|ensembl:ENST00000308153(transcript)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006342"|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0070062"(extracellular exosome)|refseq:NP_036544.1|refseq:NP_619541.1|refseq:NP_958844.1|refseq:NP_958924.1|refseq:NP_958925.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HWEdsnxjwV2Z0BAbsziMwaE/gXE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q71U36 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-302552|uniprotkb:P04687|uniprotkb:P05209|uniprotkb:A8K0B8|uniprotkb:G3V1U9|intact:EBI-10989786|ensembl:ENSP00000301071|ensembl:ENSP00000439020 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tba1a_human(display_long)|uniprotkb:TUBA1A(gene name)|psi-mi:TUBA1A(display_short)|uniprotkb:Tubulin B-alpha-1(gene name synonym)|uniprotkb:Tubulin alpha-3 chain(gene name synonym)|uniprotkb:Alpha-tubulin 3(gene name synonym)|uniprotkb:TUBA3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006000.2|refseq:NP_001257328.1|refseq:NP_001257329.1|dip:DIP-32773N|ensembl:ENSG00000167552(gene)|ensembl:ENST00000295766(transcript)|ensembl:ENST00000301071(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005874"(microtubule)|go:"GO:0005881"(cytoplasmic microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030705"(cytoskeleton-dependent intracellular transport)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042802"(identical protein binding)|go:"GO:0043209"(myelin sheath)|go:"GO:0045121"(membrane raft)|go:"GO:0050807"(regulation of synapse organization)|go:"GO:0051301"(cell division)|go:"GO:0055037"(recycling endosome)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002452(Alpha tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:Q71U36|rcsb pdb:5JCO|rcsb pdb:6J8F|rcsb pdb:6WSL|rcsb pdb:7C1M|reactome:R-HSA-1445148|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-2565942|reactome:R-HSA-3371497|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620912|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8854518|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:1CzEzrf5y8hrQRPKgWQS1Wm1aCY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q71DI3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-750650|uniprotkb:A2BDF6|uniprotkb:A6NFS4|uniprotkb:Q6B053|ensembl:ENSP00000333277|ensembl:ENSP00000358154|ensembl:ENSP00000385479 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h32_human(display_long)|uniprotkb:H3C13(gene name)|psi-mi:H3C13(display_short)|uniprotkb:H3C14(gene name)|psi-mi:H3C14(display_short)|uniprotkb:H3C15(gene name)|psi-mi:H3C15(display_short)|uniprotkb:H3-clustered histone 13(gene name synonym)|uniprotkb:H3-clustered histone 14(gene name synonym)|uniprotkb:H3-clustered histone 15(gene name synonym)|uniprotkb:H3F2(gene name synonym)|uniprotkb:H3FM(gene name synonym)|uniprotkb:HIST2H3A(gene name synonym)|uniprotkb:HIST2H3C(gene name synonym)|uniprotkb:HIST2H3D(gene name synonym)|uniprotkb:Histone H3/m(gene name synonym)|uniprotkb:Histone H3/o(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001005464.1|refseq:NP_001116847.1|refseq:NP_066403.2|dip:DIP-48606N|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-3214815|reactome:R-HSA-3214841|reactome:R-HSA-3214842|reactome:R-HSA-3214847|rcsb pdb:7BU9|rcsb pdb:7JO9|rcsb pdb:7JOA|reactome:R-HSA-3214858|reactome:R-HSA-3247509|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9609690|reactome:R-HSA-9610379|reactome:R-HSA-9616222|reactome:R-HSA-9710421|reactome:R-HSA-977225|reactome:R-HSA-983231|rcsb pdb:7JZV|reactome:R-HSA-1266695|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|ensembl:ENSG00000183598(gene)|ensembl:ENSG00000203811(gene)|ensembl:ENSG00000203852(gene)|ensembl:ENST00000331491(transcript)|ensembl:ENST00000369158(transcript)|ensembl:ENST00000403683(transcript)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000164(Histone H3)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|mint:Q71DI3|rcsb pdb:2IIJ|rcsb pdb:2X4W|rcsb pdb:2X4X|rcsb pdb:2X4Y|rcsb pdb:3AV1|rcsb pdb:3DB3|rcsb pdb:3MO8|rcsb pdb:3QO2|rcsb pdb:3R93|rcsb pdb:4MZF|rcsb pdb:4MZG|rcsb pdb:4MZH|rcsb pdb:4OUC|rcsb pdb:5B0Y|rcsb pdb:5B0Z|rcsb pdb:5B40|rcsb pdb:5BO0|rcsb pdb:5CIU|rcsb pdb:5VAC|rcsb pdb:6ACE|rcsb pdb:6FML|rcsb pdb:6T79|rcsb pdb:6T7A|rcsb pdb:6T7B|rcsb pdb:6T7C|rcsb pdb:6T7D|rcsb pdb:6X59|rcsb pdb:6X5A|rcsb pdb:6XJD|rcsb pdb:6Y5D|rcsb pdb:6Y5E|rcsb pdb:7BQZ intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2TuVqWkeAnhHR4nrl0GNyUj1N3o9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6WCQ1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1022605|uniprotkb:Q3KQZ5|uniprotkb:Q5FB94|uniprotkb:Q6DHW2|uniprotkb:Q7Z5Y2|uniprotkb:Q8N390|uniprotkb:Q96G40|ensembl:ENSP00000342379 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mprip_human(display_long)|uniprotkb:MRIP(gene name synonym)|uniprotkb:Rho-interacting protein 3(gene name synonym)|uniprotkb:p116Rip(gene name synonym)|uniprotkb:MPRIP(gene name)|psi-mi:MPRIP(display_short)|uniprotkb:KIAA0864(gene name synonym)|uniprotkb:RHOIP3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000133030(gene)|ensembl:ENST00000341712(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0007015"(actin filament organization)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0045296"(cadherin binding)|go:"GO:0051015"(actin filament binding)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR039597|mint:Q6WCQ1|reactome:R-HSA-6802952|refseq:NP_055949.2|refseq:NP_958431.2 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:QoGbbg2ehuQogDM1Dlxzw6xj59s9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6S8J3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-4289913|uniprotkb:Q6S8J4|uniprotkb:Q6S8J8|uniprotkb:Q6S8J5|ensembl:ENSP00000439189|ensembl:ENSP00000507284 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:potee_human(display_long)|uniprotkb:POTEE(gene name)|psi-mi:POTEE(display_short)|uniprotkb:A26C1A(gene name synonym)|uniprotkb:POTE2(gene name synonym)|uniprotkb:ANKRD26-like family C member 1A(gene name synonym)|uniprotkb:Prostate, ovary, testis-expressed protein on chromosome 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000188219(gene)|ensembl:ENST00000356920(transcript)|ensembl:ENST00000683005(transcript)|go:"GO:0001895"(retina homeostasis)|go:"GO:0005615"(extracellular space)|go:"GO:0021762"(substantia nigra development)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|interpro:IPR002110(Ankyrin)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020683|interpro:IPR036770|interpro:IPR039497|interpro:IPR043129|reactome:R-HSA-9035034|interpro:IPR020902|refseq:NP_001077007.1|refseq:XP_016859650.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LMuv4bmAG2/uPyH5LR9q+ickvWI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6RW13 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-741181|ensembl:ENSP00000319713|uniprotkb:A8MVQ5|uniprotkb:Q5SNV4|uniprotkb:Q5SNV5|uniprotkb:Q96AC0|uniprotkb:Q96PL4|uniprotkb:Q9NRW9 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:atrap_human(display_long)|uniprotkb:AT1 receptor-associated protein(gene name synonym)|uniprotkb:AGTRAP(gene name)|psi-mi:AGTRAP(display_short)|uniprotkb:ATRAP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001035284.1|refseq:NP_001035285.1|refseq:NP_001035286.1|refseq:NP_001035287.1|refseq:NP_065083.3|go:"GO:0005886"(plasma membrane)|go:"GO:0005938"(cell cortex)|go:"GO:0008217"(regulation of blood pressure)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|interpro:IPR009436(Angiotensin II, type I receptor-associated)|mint:Q6RW13|reactome:R-HSA-6802952|ensembl:ENSG00000177674(gene)|ensembl:ENST00000314340(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001666"(response to hypoxia)|go:"GO:0004945"(angiotensin type II receptor activity)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:z+Us8VGLb+tlxNibfVodbuMZ6+89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6NZI2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2559016|uniprotkb:O00535|uniprotkb:Q96H74|uniprotkb:Q6GMY1|uniprotkb:B2RAW7|uniprotkb:Q9BT85|uniprotkb:Q9HAP4|ensembl:ENSP00000349541 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cavn1_human(display_long)|uniprotkb:CAVIN1(gene name)|psi-mi:CAVIN1(display_short)|uniprotkb:Cavin-1(gene name synonym)|uniprotkb:PTRF(gene name synonym)|uniprotkb:Polymerase I and transcript release factor(gene name synonym)|uniprotkb:FKSG13(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036364.2|ensembl:ENSG00000177469(gene)|ensembl:ENST00000357037(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005901"(caveola)|go:"GO:0006361"(transcription initiation from RNA polymerase I promoter)|go:"GO:0006363"(termination of RNA polymerase I transcription)|go:"GO:0009303"(rRNA transcription)|go:"GO:0009306"(protein secretion)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042134"(rRNA primary transcript binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045121"(membrane raft)|go:"GO:2000147"(positive regulation of cell motility)|interpro:IPR026752|mint:Q6NZI2|reactome:R-HSA-73863|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|interpro:IPR033297|dip:DIP-48550N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:55dzpwSSfj8aEzmgHKYdrHfgYBg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6NYC8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2557469|uniprotkb:A8MSS7|uniprotkb:Q8NDQ4|uniprotkb:A2AIB8|uniprotkb:Q9BRL9|uniprotkb:B7ZCV7|uniprotkb:Q8TF52|uniprotkb:Q6ZUJ6|uniprotkb:Q68CK8|uniprotkb:A4UBI6|uniprotkb:A6NCB7|uniprotkb:A2AB01|uniprotkb:Q6ZTV1|ensembl:ENSP00000274853|ensembl:ENSP00000373067|ensembl:ENSP00000382150|ensembl:ENSP00000383400|ensembl:ENSP00000388790|ensembl:ENSP00000400129|ensembl:ENSP00000400990|ensembl:ENSP00000404066|ensembl:ENSP00000405234|ensembl:ENSP00000412456|ensembl:ENSP00000413596|ensembl:ENSP00000416648|ensembl:ENSP00000480270 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ppr18_human(display_long)|uniprotkb:PPP1R18(gene name)|psi-mi:PPP1R18(display_short)|uniprotkb:HKMT1098(gene name synonym)|uniprotkb:KIAA1949(gene name synonym)|uniprotkb:Protein phosphatase 1 F-actin cytoskeleton-targeting subunit(gene name synonym)|uniprotkb:Protein phosphatase 1 regulatory subunit 18(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001128342.1|refseq:NP_597728.1|ensembl:ENSG00000146112(gene)|ensembl:ENSG00000206485(gene)|ensembl:ENSG00000225060(gene)|ensembl:ENSG00000229998(gene)|ensembl:ENST00000274853(transcript)|ensembl:ENST00000383573(transcript)|ensembl:ENST00000399199(transcript)|ensembl:ENST00000400554(transcript)|ensembl:ENST00000437121(transcript)|ensembl:ENST00000438815(transcript)|ensembl:ENST00000438945(transcript)|ensembl:ENSG00000230341(gene)|ensembl:ENST00000443517(transcript)|ensembl:ENSG00000234000(gene)|ensembl:ENST00000444206(transcript)|ensembl:ENST00000449705(transcript)|ensembl:ENST00000451544(transcript)|ensembl:ENST00000455935(transcript)|ensembl:ENST00000615527(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005856"(cytoskeleton)|go:"GO:0019902"(phosphatase binding)|interpro:IPR025903|interpro:IPR025907|interpro:IPR026671|mint:Q6NYC8 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:63zpNZuwQb7VD0pOrr6yaRpPNmA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6FI13 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353620|uniprotkb:P20670|uniprotkb:B2R5F0|ensembl:ENSP00000358155|ensembl:ENSP00000475814 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2a2a_human(display_long)|uniprotkb:H2AC18(gene name)|psi-mi:H2AC18(display_short)|uniprotkb:H2AC19(gene name)|psi-mi:H2AC19(display_short)|uniprotkb:H2A-clustered histone 18(gene name synonym)|uniprotkb:H2A-clustered histone 19(gene name synonym)|uniprotkb:H2AFO(gene name synonym)|uniprotkb:HIST2H2AA(gene name synonym)|uniprotkb:HIST2H2AA3(gene name synonym)|uniprotkb:HIST2H2AA4(gene name synonym)|uniprotkb:Histone H2A.2(gene name synonym)|uniprotkb:Histone H2A/o(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001035807.1|refseq:NP_003507.1|ensembl:ENSG00000203812(gene)|ensembl:ENSG00000272196(gene)|ensembl:ENST00000369159(transcript)|ensembl:ENST00000607355(transcript)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006342"|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002119(Histone H2A)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|interpro:IPR032454|interpro:IPR032458|rcsb pdb:6SE6|rcsb pdb:6SEE|rcsb pdb:6SEF|rcsb pdb:6SEG|rcsb pdb:6Y5D|rcsb pdb:7JZV|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214815|reactome:R-HSA-3214847|reactome:R-HSA-3214858|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-5689603|reactome:R-HSA-5689880|reactome:R-HSA-5689901|reactome:R-HSA-606279|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9609690|reactome:R-HSA-9610379|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-977225|dip:DIP-33167N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PMuIm2XMN5q4wk+wYJ94mmnCe4w9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q69YQ0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351113|uniprotkb:O15081|intact:EBI-10965349|uniprotkb:B7Z758|uniprotkb:F5H1H6|ensembl:ENSP00000325785|ensembl:ENSP00000393363|ensembl:ENSP00000439633 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cytsa_human(display_long)|uniprotkb:SPECC1L(gene name)|psi-mi:SPECC1L(display_short)|uniprotkb:Renal carcinoma antigen NY-REN-22(gene name synonym)|uniprotkb:CYTSA(gene name synonym)|uniprotkb:KIAA0376(gene name synonym)|uniprotkb:Sperm antigen with calponin homology and coiled-coil domains 1-like(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_056145.4|refseq:NP_001241661.2|dip:DIP-33173N|ensembl:ENSG00000100014(gene)|ensembl:ENST00000314328(transcript)|ensembl:ENST00000437398(transcript)|ensembl:ENST00000541492(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005819"(spindle)|go:"GO:0005921"(gap junction)|go:"GO:0007049"(cell cycle)|go:"GO:0007155"(cell adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0031941"(filamentous actin)|go:"GO:0051301"(cell division)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR036872|interpro:IPR040166|mint:Q69YQ0 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iYg2RCRo/dMtmwyppU7ywkhkolI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5VVC8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044496|ensembl:ENSP00000398888 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:q5vvc8_human(display_long)|uniprotkb:RPL11(gene name)|psi-mi:RPL11(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000142676(gene)|ensembl:ENST00000458455(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR002132(Ribosomal protein L5)|interpro:IPR020929|interpro:IPR022803|interpro:IPR031309|interpro:IPR031310 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5GlfVQzL0c+wvFxVylEGAMsQKkM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5VTE0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-877809 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ef1a3_human(display_long)|uniprotkb:EEF1A1P5(gene name)|psi-mi:EEF1A1P5(display_short)|uniprotkb:Eukaryotic elongation factor 1 A-like 3(gene name synonym)|uniprotkb:EEF1AL3(gene name synonym)|uniprotkb:Eukaryotic translation elongation factor 1 alpha-1 pseudogene 5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0003746"(translation elongation factor activity)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0006412"(translation)|go:"GO:0006414"(translational elongation)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000795(Protein synthesis factor, GTP-binding)|interpro:IPR009001(Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal)|interpro:IPR004539(Translation elongation factor EF1A, eukaryotic and archaeal)|interpro:IPR004161(Translation elongation factor EFTu/EF1A, domain 2)|interpro:IPR004160(Translation elongation factor EFTu/EF1A, C-terminal)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR031157|reactome:R-HSA-156842|interpro:IPR027417 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3t6tj3i+3CKTC1NsrHyBkeoRK789606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5T123 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044486|ensembl:ENSP00000363358 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:q5t123_human(display_long)|uniprotkb:SH3BGRL3(gene name)|psi-mi:SH3BGRL3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000142669(gene)|ensembl:ENST00000319041(transcript)|go:"GO:0016604"(nuclear body)|interpro:IPR006993(SH3-binding, glutamic acid-rich protein)|interpro:IPR036249 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VEP2h1cViK1rlIRDlUivO6IGCFc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5SSJ5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2880687|ensembl:ENSP00000312625|ensembl:ENSP00000403039|uniprotkb:Q5SWC6|uniprotkb:Q6PIM9|uniprotkb:B3KMZ8|uniprotkb:A8K5D7|uniprotkb:Q8NDF0|uniprotkb:Q05BI0|uniprotkb:B4E210|uniprotkb:A6NI71|uniprotkb:Q9UHY0|uniprotkb:Q5SSJ6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hp1b3_human(display_long)|uniprotkb:HP1BP3(gene name)|psi-mi:HP1BP3(display_short)|uniprotkb:Protein HP1-BP74(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000127483(gene)|ensembl:ENST00000312239(transcript)|ensembl:ENST00000438032(transcript)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0016607"(nuclear speck)|go:"GO:0031491"(nucleosome binding)|go:"GO:0042127"(regulation of cell population proliferation)|go:"GO:0070828"(heterochromatin organization)|go:"GO:0071456"(cellular response to hypoxia)|go:"GO:0097298"(regulation of nucleus size)|interpro:IPR005818(Histone H1/H5)|interpro:IPR033061|interpro:IPR036388|interpro:IPR036390|mint:Q5SSJ5|rcsb pdb:2RQP|go:"GO:0005694"(chromosome)|refseq:XP_016856882.1|refseq:XP_016856883.1|refseq:XP_011539834.1|refseq:XP_011539835.1|refseq:XP_011539836.1|refseq:NP_057371.2|refseq:XP_005245932.1|refseq:XP_005245933.1|refseq:XP_005245934.1|refseq:XP_005245935.1|refseq:XP_005245936.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kLFithZZv+Qn9YLElEnX81awKDw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5M775 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350473|uniprotkb:Q5IBP1|uniprotkb:Q5IBP2|uniprotkb:Q5IBP3|uniprotkb:Q5IBP4|uniprotkb:Q5M772|uniprotkb:Q5M773|uniprotkb:Q5M774|uniprotkb:Q86XT8|uniprotkb:Q8N4U4|uniprotkb:Q8WU84|uniprotkb:Q9HCQ3|uniprotkb:B4DHH0|ensembl:ENSP00000261503|ensembl:ENSP00000378898|ensembl:ENSP00000502924|ensembl:ENSP00000503971|ensembl:ENSP00000504211|uniprotkb:B7WNS8|intact:EBI-2556892 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cytsb_human(display_long)|uniprotkb:Nuclear structure protein 5(gene name synonym)|uniprotkb:Sperm antigen HCMOGT-1(gene name synonym)|uniprotkb:SPECC1(gene name)|psi-mi:SPECC1(display_short)|uniprotkb:CYTSB(gene name synonym)|uniprotkb:Sperm antigen with calponin homology and coiled-coil domains 1(gene name synonym)|uniprotkb:NSP5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001028725.1|refseq:NP_001028726.1|refseq:NP_001028727.1|refseq:NP_001230367.1|refseq:NP_001230368.1|refseq:NP_690868.3|ensembl:ENSG00000128487(gene)|ensembl:ENST00000261503(transcript)|ensembl:ENST00000395527(transcript)|ensembl:ENST00000677914(transcript)|ensembl:ENST00000679058(transcript)|ensembl:ENST00000679255(transcript)|go:"GO:0001650"(fibrillar center)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0016020"(membrane)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0031941"(filamentous actin)|go:"GO:0043231"(intracellular membrane-bounded organelle)|interpro:IPR036872|mint:Q5M775|interpro:IPR001715(Calponin-like actin-binding)|refseq:XP_016880814.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iF+19RpfJDyn5whTFnPmDxxECz09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q562R1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1773495|uniprotkb:Q562R2|uniprotkb:Q562S9|uniprotkb:Q562X8|uniprotkb:B2RPJ1|ensembl:ENSP00000416706 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actbl_human(display_long)|uniprotkb:ACTBL2(gene name)|psi-mi:ACTBL2(display_short)|uniprotkb:Kappa-actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001017992.1|ensembl:ENSG00000169067(gene)|ensembl:ENST00000423391(transcript)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005884"(actin filament)|go:"GO:0007409"(axonogenesis)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030424"(axon)|go:"GO:0035267"(NuA4 histone acetyltransferase complex)|go:"GO:0045202"(synapse)|go:"GO:0048870"(cell motility)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098973"(structural constituent of postsynaptic actin cytoskeleton)|go:"GO:0098978"(glutamatergic synapse)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:Q562R1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GTzKP5YRJGH8ocAJW0WEsdQFEdc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q53GQ0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2963255|uniprotkb:Q96EA9|ensembl:ENSP00000278353|uniprotkb:A8K9B0|uniprotkb:Q9Y6G8|uniprotkb:Q96JU2|uniprotkb:D3DR23 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dhb12_human(display_long)|uniprotkb:HSD17B12(gene name)|psi-mi:HSD17B12(display_short)|uniprotkb:17-beta-hydroxysteroid dehydrogenase 12(gene name synonym)|uniprotkb:3-ketoacyl-CoA reductase(gene name synonym)|uniprotkb:SDR12C1(gene name synonym)|uniprotkb:Short chain dehydrogenase/reductase family 12C member 1(gene name synonym)|uniprotkb:Estradiol 17-beta-dehydrogenase 12(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000149084(gene)|go:"GO:0001968"(fibronectin binding)|go:"GO:0005518"(collagen binding)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0006633"(fatty acid biosynthetic process)|go:"GO:0006703"(estrogen biosynthetic process)|go:"GO:0008201"(heparin binding)|go:"GO:0009923"(fatty acid elongase complex)|go:"GO:0010811"(positive regulation of cell-substrate adhesion)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016509"(long-chain-3-hydroxyacyl-CoA dehydrogenase activity)|go:"GO:0030198"(extracellular matrix organization)|go:"GO:0031012"(extracellular matrix)|go:"GO:0035338"(long-chain fatty-acyl-CoA biosynthetic process)|go:"GO:0044594"("17-beta-hydroxysteroid dehydrogenase (NAD+) activity")|go:"GO:0050062"(long-chain-fatty-acyl-CoA reductase activity)|go:"GO:0072582"("17-beta-hydroxysteroid dehydrogenase (NADP+) activity")|ensembl:ENST00000278353(transcript)|go:"GO:0102339"(3-oxo-arachidoyl-CoA reductase activity)|go:"GO:0102341"(3-oxo-lignoceroyl-CoA reductase activity)|go:"GO:0102342"(3-oxo-cerotoyl-CoA reductase activity)|interpro:IPR002347(Glucose/ribitol dehydrogenase)|interpro:IPR020904|interpro:IPR036291|mint:Q53GQ0|reactome:R-HSA-193048|reactome:R-HSA-75876|go:"GO:0102340"(3-oxo-behenoyl-CoA reductase activity)|refseq:NP_057226.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2R2pFY0c9yRuCvLU2J8n2urR+0o9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q3KQU3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-713229|uniprotkb:Q9HBQ2|uniprotkb:Q8N905|uniprotkb:Q9ULN3|uniprotkb:Q7L8J5|uniprotkb:Q8TAK0|intact:EBI-2511981|intact:EBI-1056140|ensembl:ENSP00000362244|uniprotkb:Q9NW29|uniprotkb:D3DPS4 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ma7d1_human(display_long)|uniprotkb:MAP7D1(gene name)|psi-mi:MAP7D1(display_short)|uniprotkb:KIAA1187(gene name synonym)|uniprotkb:PARCC1(gene name synonym)|uniprotkb:RPRC1(gene name synonym)|uniprotkb:Proline/arginine-rich coiled-coil domain-containing protein 1(gene name synonym)|uniprotkb:Arginine/proline-rich coiled-coil domain-containing protein 1(gene name synonym)|uniprotkb:PP2464(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001273294.1|refseq:NP_001273295.1|ensembl:ENSG00000116871(gene)|ensembl:ENST00000373151(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0005819"(spindle)|go:"GO:0005829"(cytosol)|go:"GO:0015630"(microtubule cytoskeleton)|interpro:IPR008604(E-MAP-115)|mint:Q3KQU3|refseq:NP_060537.3 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:AEal3/uaJsdRBdmijI8nuthBD9k9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q16875 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-764464|uniprotkb:Q5VX18|uniprotkb:O43622|uniprotkb:O75902|intact:EBI-2834088|uniprotkb:Q5VX19|uniprotkb:B7Z955|uniprotkb:Q5VX15|ensembl:ENSP00000369100 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f263_human(display_long)|uniprotkb:6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme(gene name synonym)|uniprotkb:iPFK-2(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-56(gene name synonym)|uniprotkb:PFKFB3(gene name)|psi-mi:PFKFB3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004557.1|refseq:NP_001269559.1|refseq:NP_001300992.1|dip:DIP-33964N|ensembl:ENSG00000170525(gene)|ensembl:ENST00000379775(transcript)|go:"GO:0003873"(6-phosphofructo-2-kinase activity)|go:"GO:0004331"(fructose-2,6-bisphosphate 2-phosphatase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006000"(fructose metabolic process)|go:"GO:0006003"(fructose 2,6-bisphosphate metabolic process)|go:"GO:0007420"(brain development)|interpro:IPR001345(Phosphoglycerate/bisphosphoglycerate mutase)|interpro:IPR003094(Fructose-2,6-bisphosphatase)|interpro:IPR013078(Phosphoglycerate mutase)|interpro:IPR027417|interpro:IPR029033|rcsb pdb:2AXN|rcsb pdb:2DWO|rcsb pdb:2DWP|rcsb pdb:2I1V|rcsb pdb:3QPU|rcsb pdb:3QPV|rcsb pdb:3QPW|rcsb pdb:4D4J|rcsb pdb:4D4K|rcsb pdb:4D4L|rcsb pdb:4D4M|rcsb pdb:4MA4|rcsb pdb:5AJV|rcsb pdb:5AJW|rcsb pdb:5AJX|rcsb pdb:5AJY|rcsb pdb:5AJZ|rcsb pdb:5AK0|rcsb pdb:6ETJ|rcsb pdb:6HVH|rcsb pdb:6HVI|rcsb pdb:6HVJ|rcsb pdb:6IBX|rcsb pdb:6IBY|rcsb pdb:6IBZ|rcsb pdb:6IC0|reactome:R-HSA-9634600|interpro:IPR013079(6-phosphofructo-2-kinase) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:BPxZYy35rU3GFHZ0+i9FpfTQh9s9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q16643 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351394|uniprotkb:Q9UFZ5|uniprotkb:B2RBG0|ensembl:ENSP00000308532|intact:EBI-4404710|uniprotkb:A8MV58 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dreb_human(display_long)|uniprotkb:DBN1(gene name)|psi-mi:DBN1(display_short)|uniprotkb:Developmentally-regulated brain protein(gene name synonym)|uniprotkb:D0S117E(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004386.2|refseq:NP_543157.1|refseq:XP_005265884.1|ensembl:ENSG00000113758(gene)|ensembl:ENST00000309007(transcript)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0003779"(actin binding)|go:"GO:0005522"(profilin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005921"(gap junction)|go:"GO:0007015"(actin filament organization)|go:"GO:0010643"(cell communication by chemical coupling)|go:"GO:0010644"(cell communication by electrical coupling)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0042641"(actomyosin)|go:"GO:0030425"(dendrite)|go:"GO:0045211"(postsynaptic membrane)|go:"GO:0045296"(cadherin binding)|go:"GO:0045773"(positive regulation of axon extension)|go:"GO:0048168"(regulation of neuronal synaptic plasticity)|go:"GO:0048812"(neuron projection morphogenesis)|go:"GO:0050773"(regulation of dendrite development)|go:"GO:0051015"(actin filament binding)|go:"GO:0051220"(cytoplasmic sequestering of protein)|go:"GO:0061003"(positive regulation of dendritic spine morphogenesis)|go:"GO:0061351"(neural precursor cell proliferation)|go:"GO:0098974"(postsynaptic actin cytoskeleton organization)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099524"(postsynaptic cytosol)|go:"GO:1902685"(positive regulation of receptor localization to synapse)|interpro:IPR002108(Actin-binding, cofilin/tropomyosin type)|interpro:IPR028438|interpro:IPR029006|mint:Q16643|go:"GO:0030426"(growth cone)|go:"GO:0030427"(site of polarized growth)|go:"GO:0030833"(regulation of actin filament polymerization)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031915"(positive regulation of synaptic plasticity)|rcsb pdb:5Y1Z|rcsb pdb:5ZZ9|reactome:R-HSA-9013405|reactome:R-HSA-9013407|reactome:R-HSA-9013418|reactome:R-HSA-9013422|go:"GO:0032507"(maintenance of protein location in cell)|refseq:XP_016864629.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0+VPJM5mTuG2jzmzGG3iLswmCUc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15836 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-722343|uniprotkb:Q9BRV4|ensembl:ENSP00000054666 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:vamp3_human(display_long)|uniprotkb:Synaptobrevin-3(gene name synonym)|uniprotkb:Cellubrevin(gene name synonym)|uniprotkb:VAMP3(gene name)|psi-mi:VAMP3(display_short)|uniprotkb:SYB3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004772.1|dip:DIP-56422N|ensembl:ENSG00000049245(gene)|ensembl:ENST00000054666(transcript)|go:"GO:0001921"(positive regulation of receptor recycling)|go:"GO:0005484"(SNAP receptor activity)|go:"GO:0005769"(early endosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006887"(exocytosis)|go:"GO:0006904"(vesicle docking involved in exocytosis)|go:"GO:0006906"(vesicle fusion)|go:"GO:0009986"(cell surface)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0017075"(syntaxin-1 binding)|go:"GO:0017156"(calcium-ion regulated exocytosis)|go:"GO:0019905"(syntaxin binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030136"(clathrin-coated vesicle)|go:"GO:0030141"(secretory granule)|go:"GO:0030285"(integral component of synaptic vesicle membrane)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031201"(SNARE complex)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0034446"(substrate adhesion-dependent cell spreading)|go:"GO:0035493"(SNARE complex assembly)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0043001"(Golgi to plasma membrane protein transport)|go:"GO:0043005"(neuron projection)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0055037"(recycling endosome)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0061025"(membrane fusion)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:1903531"(negative regulation of secretion by cell)|interpro:IPR001388(Synaptobrevin)|interpro:IPR016444(Synaptobrevin, metazoa/fungi)|interpro:IPR042855|mint:Q15836|reactome:R-HSA-1236974|reactome:R-HSA-6811440|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013405|reactome:R-HSA-9013406|reactome:R-HSA-9013407|reactome:R-HSA-9013408|reactome:R-HSA-9013409|reactome:R-HSA-9013423|reactome:R-HSA-9035034 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JeCaIwh36OpRqMG0MFnpFZyN6jU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15750 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358643|uniprotkb:Q2PP09|intact:EBI-3959873|uniprotkb:Q8IZW2|ensembl:ENSP00000216160 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tab1_human(display_long)|uniprotkb:TAB1(gene name)|psi-mi:TAB1(display_short)|uniprotkb:MAP3K7IP1(gene name synonym)|uniprotkb:TGF-beta-activated kinase 1-binding protein 1(gene name synonym)|uniprotkb:Mitogen-activated protein kinase kinase kinase 7-interacting protein 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006107.1|refseq:NP_705717.1|ensembl:ENSP00000216160|ensembl:ENST00000331454|ensembl:ENSP00000333049|go:"GO:0003279"(cardiac septum development)|rcsb pdb:7NTI|go:"GO:0003007"(heart morphogenesis)|ensembl:ENSG00000100324(gene)|ensembl:ENST00000216160(transcript)|go:"GO:0000185"(obsolete activation of MAPKKK activity)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007179"(transforming growth factor beta receptor signaling pathway)|go:"GO:0008047"(enzyme activator activity)|go:"GO:0010008"(endosome membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0016791"(phosphatase activity)|go:"GO:0019209"(kinase activator activity)|go:"GO:0030324"(lung development)|go:"GO:0032991"(protein-containing complex)|go:"GO:0035904"(aorta development)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0048273"(mitogen-activated protein kinase p38 binding)|go:"GO:0060976"(coronary vasculature development)|interpro:IPR001932(Protein phosphatase 2C-related)|interpro:IPR015655(Protein phosphatase 2C)|interpro:IPR036457|mint:Q15750|rcsb pdb:2J4O|rcsb pdb:2POM|rcsb pdb:2POP|rcsb pdb:2YDS|rcsb pdb:2YIY|rcsb pdb:4AY5|rcsb pdb:4AY6|rcsb pdb:4GS6|rcsb pdb:4KA3|rcsb pdb:4L3P|rcsb pdb:4L52|rcsb pdb:4L53|rcsb pdb:4O91|rcsb pdb:5DIY|rcsb pdb:5E7R|rcsb pdb:5GJD|rcsb pdb:5GJF|rcsb pdb:5GJG|rcsb pdb:5J7S|rcsb pdb:5J8I|rcsb pdb:5J9L|rcsb pdb:5JGA|rcsb pdb:5JGB|rcsb pdb:5JGD|rcsb pdb:5JH6|rcsb pdb:5JK3|rcsb pdb:5NZZ|rcsb pdb:5O90|rcsb pdb:5V5N|rcsb pdb:5VVU|rcsb pdb:7NTH|reactome:R-HSA-168638|reactome:R-HSA-2871837|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5357956|reactome:R-HSA-5607764|reactome:R-HSA-5689880|reactome:R-HSA-9014325|reactome:R-HSA-9020702|reactome:R-HSA-937042|reactome:R-HSA-937072|reactome:R-HSA-9645460|reactome:R-HSA-975163|dip:DIP-27524N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:28+bzs6bpXJTun4XukxC/7oAYSs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15746 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-968482|intact:EBI-28987351|ensembl:ENSP00000353452|uniprotkb:O95796|uniprotkb:O95797|uniprotkb:O95798|uniprotkb:O95799|uniprotkb:Q14844|uniprotkb:Q16794|uniprotkb:Q5MY99|uniprotkb:Q5MYA0|intact:EBI-1758586|uniprotkb:B4DUE3|uniprotkb:D3DN97|uniprotkb:Q17S15|uniprotkb:Q6P2N0|uniprotkb:Q7Z4J0|uniprotkb:Q9C0L5|uniprotkb:Q9UBG5|uniprotkb:Q9UIT9|intact:EBI-1963605|uniprotkb:Q3ZCP9|uniprotkb:Q9UBY6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mylk_human(display_long)|uniprotkb:MYLK(gene name)|psi-mi:MYLK(display_short)|uniprotkb:MLCK(gene name synonym)|uniprotkb:Telokin(gene name synonym)|uniprotkb:Kinase-related protein(gene name synonym)|uniprotkb:MLCK1(gene name synonym)|uniprotkb:MYLK1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000065534(gene)|go:"GO:0006939"(smooth muscle contraction)|go:"GO:0014820"(tonic smooth muscle contraction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0032060"(bleb assembly)|go:"GO:0032154"(cleavage furrow)|go:"GO:0046872"(metal ion binding)|go:"GO:0051928"(positive regulation of calcium ion transport)|go:"GO:0060414"(aorta smooth muscle tissue morphogenesis)|go:"GO:0071476"(cellular hypotonic response)|go:"GO:0090303"(positive regulation of wound healing)|interpro:IPR000719(Protein kinase, core)|interpro:IPR003598(Immunoglobulin subtype 2)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR003961(Fibronectin, type III)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR013098(Immunoglobulin I-set)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR015725(Myosin Light Chain Kinase)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR036116|ensembl:ENST00000360304(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0004672"(protein kinase activity)|go:"GO:0004687"(myosin light chain kinase activity)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006468"(protein phosphorylation)|interpro:IPR036179|rcsb pdb:2K0F|rcsb pdb:2YR3|rcsb pdb:2CQV|rcsb pdb:5JQA|rcsb pdb:5JTH|rcsb pdb:6C6M|reactome:R-HSA-445355|reactome:R-HSA-5627123|refseq:NP_444253.3|refseq:NP_444254.3|refseq:NP_444255.3|refseq:NP_444256.3|refseq:NP_444259.1|refseq:NP_001308238.1|refseq:XP_011511162.1|ensembl:ENST00000346322|ensembl:ENSP00000320622|ensembl:ENSP00000354004|ensembl:ENST00000418370|ensembl:ENSP00000428967|ensembl:ENST00000578202|ensembl:ENSP00000463691|ensembl:ENST00000583087|ensembl:ENSP00000462118|ensembl:ENST00000360772|ensembl:ENSP00000353452|refseq:NP_444260.1|refseq:XP_016861958.1|refseq:XP_016861960.1|refseq:XP_016861961.1|refseq:XP_016861962.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Wm0QbKY5KOVPytbFu5NCcT0Z1ek9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15393 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-346977|uniprotkb:Q6NTI8|uniprotkb:Q96GC0|uniprotkb:Q9BPY2|uniprotkb:Q9UFX7|uniprotkb:Q9UJ29|ensembl:ENSP00000305790 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sf3b3_human(display_long)|uniprotkb:SF3B3(gene name)|psi-mi:SF3B3(display_short)|uniprotkb:KIAA0017(gene name synonym)|uniprotkb:SAP130(gene name synonym)|uniprotkb:Spliceosome-associated protein 130(gene name synonym)|uniprotkb:Pre-mRNA-splicing factor SF3b 130 kDa subunit(gene name synonym)|uniprotkb:STAF130(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036558.3|dip:DIP-28152N|ensembl:ENSG00000189091(gene)|ensembl:ENST00000302516(transcript)|go:"GO:0000375"(RNA splicing, via transesterification reactions)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0005634"(nucleus)|rcsb pdb:5O9Z|go:"GO:0005654"(nucleoplasm)|go:"GO:0005686"(U2 snRNP)|go:"GO:0005689"(U12-type spliceosomal complex)|rcsb pdb:5Z56|rcsb pdb:5Z57|rcsb pdb:5Z58|go:"GO:0005730"(nucleolus)|go:"GO:0008380"(RNA splicing)|rcsb pdb:5ZYA|rcsb pdb:6AH0|go:"GO:0030620"(U2 snRNA binding)|rcsb pdb:6AHD|rcsb pdb:6EN4|rcsb pdb:6FF4|rcsb pdb:6FF7|rcsb pdb:6QX9|rcsb pdb:6Y50|rcsb pdb:6Y5Q|rcsb pdb:7ABG|rcsb pdb:7ABH|rcsb pdb:7ABI|rcsb pdb:7DVQ|reactome:R-HSA-72163|reactome:R-HSA-72165|go:"GO:0042177"(negative regulation of protein catabolic process)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0071005"(U2-type precatalytic spliceosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|interpro:IPR004871(Cleavage and polyadenylation specificity factor, A subunit, C-terminal)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR018846|interpro:IPR036322|mint:Q15393|rcsb pdb:5IFE intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:gnCSXjZ/bwNXair6kyQUKoKIwbM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15392 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-5457558|uniprotkb:B7Z817|ensembl:ENSP00000360316|ensembl:ENSP00000416585|uniprotkb:D3DQ51|uniprotkb:Q9HBA8|intact:EBI-10964490 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dhc24_human(display_long)|uniprotkb:DHCR24(gene name)|psi-mi:DHCR24(display_short)|uniprotkb:KIAA0018(gene name synonym)|uniprotkb:24-dehydrocholesterol reductase(gene name synonym)|uniprotkb:Diminuto/dwarf1 homolog(gene name synonym)|uniprotkb:Seladin-1(gene name synonym)|uniprotkb:3-beta-hydroxysterol Delta-24-reductase(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000116133(gene)|ensembl:ENST00000371269(transcript)|ensembl:ENST00000436604(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000246"("delta24(24-1) sterol reductase activity")|go:"GO:0005634"(nucleus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0006695"(cholesterol biosynthetic process)|go:"GO:0006915"(apoptotic process)|go:"GO:0006979"(response to oxidative stress)|go:"GO:0007265"(Ras protein signal transduction)|go:"GO:0008104"(protein localization)|go:"GO:0008202"(steroid metabolic process)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0009725"(response to hormone)|go:"GO:0009888"(tissue development)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016628"(oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor)|go:"GO:0019899"(enzyme binding)|go:"GO:0030539"(male genitalia development)|go:"GO:0031639"(plasminogen activation)|go:"GO:0033489"(cholesterol biosynthetic process via desmosterol)|go:"GO:0033490"(cholesterol biosynthetic process via lathosterol)|go:"GO:0042605"(peptide antigen binding)|go:"GO:0042987"(amyloid precursor protein catabolic process)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043154"(negative regulation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0043588"(skin development)|go:"GO:0050614"(delta24-sterol reductase activity)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0061024"(membrane organization)|go:"GO:0071949"(FAD binding)|go:"GO:1901214"(regulation of neuron death)|interpro:IPR006094(FAD linked oxidase, N-terminal)|interpro:IPR016166(FAD-binding, type 2)|interpro:IPR016169(CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2)|interpro:IPR036318|interpro:IPR040165|go:"GO:0005737"(cytoplasm)|mint:Q15392|reactome:R-HSA-6807047|reactome:R-HSA-6807062|refseq:NP_055577.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kg8bxZHxFFTUmvP9UQMeVFRNWQM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15208 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-458376|ensembl:ENSP00000229812|uniprotkb:Q503A1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:stk38_human(display_long)|uniprotkb:NDR1(gene name synonym)|uniprotkb:STK38(gene name)|psi-mi:STK38(display_short)|uniprotkb:NDR1 protein kinase(gene name synonym)|uniprotkb:Nuclear Dbf2-related kinase 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000112079(gene)|ensembl:ENST00000229812(transcript)|go:"GO:0000287"(magnesium ion binding)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006464"(cellular protein modification process)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0018105"(peptidyl-serine phosphorylation)|go:"GO:0031435"(mitogen-activated protein kinase kinase kinase binding)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045296"(cadherin binding)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|interpro:IPR000719(Protein kinase, core)|interpro:IPR000961(Protein kinase, C-terminal)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR017892|mint:Q15208|rcsb pdb:1PSB|rcsb pdb:6BXI|reactome:R-HSA-9013418|reactome:R-HSA-9013422|refseq:NP_009202.1|refseq:XP_006715051.1|refseq:XP_006715052.1|refseq:NP_001292031.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YHzdDrPEH6YdhOXtcnLWArqftck9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15149 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-297903|intact:EBI-1103289|intact:EBI-1103265|intact:EBI-1055056|uniprotkb:Q15148|uniprotkb:Q16640|ensembl:ENSP00000323856|uniprotkb:Q6S376|intact:EBI-28976159|uniprotkb:Q6S380|intact:EBI-1103313|uniprotkb:Q6S377|uniprotkb:Q6S378|uniprotkb:Q6S379|intact:EBI-1103301|intact:EBI-1103253|uniprotkb:Q6S381|uniprotkb:Q6S382|uniprotkb:Q6S383|intact:EBI-2825763 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:plec_human(display_long)|uniprotkb:PLEC(gene name)|psi-mi:PLEC(display_short)|uniprotkb:Hemidesmosomal protein 1(gene name synonym)|uniprotkb:PLEC1(gene name synonym)|uniprotkb:Plectin-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0030018"(Z disc)|go:"GO:0030056"(hemidesmosome)|go:"GO:0030424"(axon)|go:"GO:0030425"(dendrite)|go:"GO:0030506"(ankyrin binding)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0031581"(hemidesmosome assembly)|go:"GO:0031668"(cellular response to extracellular stimulus)|go:"GO:0032094"(response to food)|go:"GO:0032287"(peripheral nervous system myelin maintenance)|go:"GO:0034332"(adherens junction organization)|go:"GO:0034613"(cellular protein localization)|go:"GO:0035264"(multicellular organism growth)|go:"GO:0042060"(wound healing)|go:"GO:0042383"(sarcolemma)|go:"GO:0043034"(costamere)|go:"GO:0043114"(regulation of vascular permeability)|go:"GO:0043209"(myelin sheath)|go:"GO:0043621"(protein self-association)|go:"GO:0043933"(protein-containing complex organization)|go:"GO:0045104"(intermediate filament cytoskeleton organization)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0022904"(respiratory electron transport chain)|go:"GO:0045214"(sarcomere organization)|go:"GO:0045296"(cadherin binding)|go:"GO:0045445"(myoblast differentiation)|go:"GO:0048471"(perinuclear region of cytoplasm)|ensembl:ENSG00000178209(gene)|ensembl:ENST00000322810(transcript)|go:"GO:0000902"(cell morphogenesis)|go:"GO:0002162"(dystroglycan binding)|go:"GO:0002522"(leukocyte migration involved in immune response)|go:"GO:0003334"(keratinocyte development)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005737"(cytoplasm)|go:"GO:0055013"(cardiac muscle cell development)|go:"GO:0061436"(establishment of skin barrier)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070584"(mitochondrion morphogenesis)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071464"(cellular response to hydrostatic pressure)|go:"GO:0071498"(cellular response to fluid shear stress)|go:"GO:0120193"(tight junction organization)|go:"GO:2000689"(actomyosin contractile ring assembly actin filament organization)|go:"GO:2000983"(regulation of ATP citrate synthase activity)|interpro:IPR001101(Plectin repeat)|interpro:IPR001452(Src homology-3)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR005326(Plectin/S10, N-terminal)|go:"GO:0048741"(skeletal muscle fiber development)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005925"(focal adhesion)|go:"GO:0006469"(negative regulation of protein kinase activity)|go:"GO:0006997"(nucleus organization)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0010467"(gene expression)|go:"GO:0010761"(fibroblast migration)|go:"GO:0010818"(T cell chemotaxis)|go:"GO:0014866"(skeletal myofibril assembly)|go:"GO:0016020"(membrane)|go:"GO:0016528"(sarcoplasm)|go:"GO:0016569"(obsolete covalent chromatin modification)|go:"GO:0019226"(transmission of nerve impulse)|interpro:IPR030269|interpro:IPR035915|interpro:IPR018159|interpro:IPR036388|interpro:IPR036872|interpro:IPR041573|interpro:IPR041615|interpro:IPR043197|mint:Q15149|rcsb pdb:1MB8|rcsb pdb:2N03|rcsb pdb:2ODU|rcsb pdb:2ODV|rcsb pdb:3F7P|rcsb pdb:3PDY|rcsb pdb:3PE0|rcsb pdb:4GDO|rcsb pdb:4Q58|rcsb pdb:4Q59|rcsb pdb:5J1F|rcsb pdb:5J1G|rcsb pdb:5J1H|rcsb pdb:5J1I|reactome:R-HSA-2022090|reactome:R-HSA-264870|reactome:R-HSA-446107|ensembl:ENST00000436759|ensembl:ENSP00000388180|ensembl:ENST00000527096|ensembl:ENSP00000434583|ensembl:ENSP00000323856|ensembl:ENST00000345136|ensembl:ENSP00000344848|ensembl:ENST00000354589|ensembl:ENSP00000346602|ensembl:ENST00000354958|ensembl:ENSP00000347044|ensembl:ENST00000356346|ensembl:ENSP00000348702|ensembl:ENST00000357649|ensembl:ENSP00000350277|ensembl:ENST00000398774|ensembl:ENSP00000381756|refseq:NP_000436.2|refseq:NP_958780.1|refseq:NP_958781.1|refseq:NP_958782.1|refseq:NP_958783.1|refseq:NP_958784.1|refseq:NP_958785.1|refseq:NP_958786.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:zbctDAOOCaJUx3WBdp85v7SI0sI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14839 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-372916|uniprotkb:Q8IXZ5|intact:EBI-28978241|ensembl:ENSP00000440542 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:chd4_human(display_long)|uniprotkb:CHD4(gene name)|psi-mi:CHD4(display_short)|uniprotkb:ATP-dependent helicase CHD4(gene name synonym)|uniprotkb:Mi-2 autoantigen 218 kDa protein(gene name synonym)|uniprotkb:Mi2-beta(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000440542|ensembl:ENST00000645095|ensembl:ENSP00000496634|refseq:NP_001264.2|refseq:XP_006719021.1|refseq:NP_001284482.1|ensembl:ENSG00000111642(gene)|ensembl:ENST00000544040(transcript)|go:"GO:0000785"(chromatin)|go:"GO:0001221"(transcription coregulator binding)|go:"GO:0003677"(DNA binding)|go:"GO:0003678"(DNA helicase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0008270"(zinc ion binding)|go:"GO:0016020"(membrane)|go:"GO:0016581"(NuRD complex)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043044"|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070615"|go:"GO:0090575"(RNA polymerase II transcription regulator complex)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR000330(SNF2-related)|interpro:IPR000953(Chromo domain)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR001965(Zinc finger, PHD-type)|interpro:IPR002464(DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site)|interpro:IPR009462(Protein of unknown function DUF1086)|interpro:IPR009463(Protein of unknown function DUF1087)|interpro:IPR011011(Zinc finger, FYVE/PHD-type)|interpro:IPR012957(CHD, C-terminal 2)|interpro:IPR012958(CHD, N-terminal)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR016197(Chromo domain-like)|interpro:IPR019786|interpro:IPR019787|interpro:IPR023780|interpro:IPR027417|interpro:IPR038718|mint:Q14839|rcsb pdb:1MM2|rcsb pdb:1MM3|rcsb pdb:2EE1|rcsb pdb:2L5U|rcsb pdb:2L75|rcsb pdb:2N5N|rcsb pdb:4O9I|rcsb pdb:6BGG|rcsb pdb:6Q3M|rcsb pdb:6RYR|rcsb pdb:6RYU|reactome:R-HSA-3214815|reactome:R-HSA-427389|reactome:R-HSA-6804758|reactome:R-HSA-73762|reactome:R-HSA-8943724|reactome:R-HSA-9031628|reactome:R-HSA-9679191|dip:DIP-31183N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:E9eHT/41SIFRiz54J81hvPQeHIE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14573 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351055|uniprotkb:Q14649|uniprotkb:Q5TAQ2|intact:EBI-28978202|ensembl:ENSP00000363435|ensembl:ENSP00000475177 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:itpr3_human(display_long)|uniprotkb:ITPR3(gene name)|psi-mi:ITPR3(display_short)|uniprotkb:Type 3 inositol 1,4,5-trisphosphate receptor(gene name synonym)|uniprotkb:IP3 receptor isoform 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002215.2|ensembl:ENSP00000363435|ensembl:ENSP00000475177|ensembl:ENSG00000096433(gene)|ensembl:ENST00000374316(transcript)|ensembl:ENST00000605930(transcript)|go:"GO:0000822"(inositol hexakisphosphate binding)|go:"GO:0005220"(inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005640"(nuclear outer membrane)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007204"(positive regulation of cytosolic calcium ion concentration)|go:"GO:0015278"(calcium-release channel activity)|go:"GO:0016020"(membrane)|go:"GO:0016529"(sarcoplasmic reticulum)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0031095"(platelet dense tubular network membrane)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043209"(myelin sheath)|go:"GO:0043235"(receptor complex)|go:"GO:0043533"(inositol 1,3,4,5 tetrakisphosphate binding)|go:"GO:0045177"(apical part of cell)|go:"GO:0050913"(sensory perception of bitter taste)|go:"GO:0050916"(sensory perception of sweet taste)|go:"GO:0050917"(sensory perception of umami taste)|go:"GO:0051209"(release of sequestered calcium ion into cytosol)|go:"GO:0051592"(response to calcium ion)|go:"GO:0060291"(long-term synaptic potentiation)|go:"GO:0060402"(calcium ion transport into cytosol)|go:"GO:0070679"(inositol 1,4,5 trisphosphate binding)|interpro:IPR000493(Inositol 1,4,5-trisphosphate-binding protein receptor)|interpro:IPR000699(Intracellular calcium-release channel)|interpro:IPR005821(Ion transport)|interpro:IPR013662(RyR and IP3R Homology associated)|interpro:IPR014821(Inositol 1,4,5-trisphosphate/ryanodine receptor)|interpro:IPR016093(MIR motif)|interpro:IPR035910|interpro:IPR036300|mint:Q14573|rcsb pdb:6DQJ|rcsb pdb:6DQN|rcsb pdb:6DQS|rcsb pdb:6DQV|rcsb pdb:6DQZ|rcsb pdb:6DR0|rcsb pdb:6DR2|rcsb pdb:6DRA|rcsb pdb:6DRC|rcsb pdb:6UQK|reactome:R-HSA-112043|reactome:R-HSA-114508|reactome:R-HSA-139853|reactome:R-HSA-1489509|reactome:R-HSA-2029485|reactome:R-HSA-2871809|reactome:R-HSA-381676|reactome:R-HSA-4086398|reactome:R-HSA-422356|reactome:R-HSA-5218921|reactome:R-HSA-5578775|reactome:R-HSA-5607763|reactome:R-HSA-9664323|go:"GO:0007613"(memory)|reactome:R-HSA-983695 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:O+1OC4E0IrAOt+D672eXnhWHy3I9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14257 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356710|uniprotkb:A8MTG6|uniprotkb:Q53XN8|ensembl:ENSP00000378349|uniprotkb:F8WCY5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rcn2_human(display_long)|uniprotkb:RCN2(gene name)|psi-mi:RCN2(display_short)|uniprotkb:ERC55(gene name synonym)|uniprotkb:Calcium-binding protein ERC-55(gene name synonym)|uniprotkb:E6-binding protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002893.1|ensembl:ENST00000394885(transcript)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|ensembl:ENSG00000117906(gene)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR018247|mint:Q14257|refseq:NP_001258766.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:99ru/7eYUvZ5xdb+x4inbib3PP89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14247 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351886|intact:EBI-3959948|ensembl:ENSP00000301843|ensembl:ENSP00000500756|uniprotkb:Q8N707|uniprotkb:Q96H99 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:src8_human(display_long)|uniprotkb:CTTN(gene name)|psi-mi:CTTN(display_short)|uniprotkb:EMS1(gene name synonym)|uniprotkb:Amplaxin(gene name synonym)|uniprotkb:Oncogene EMS1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005222.2|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0006930"(substrate-dependent cell migration, cell extension)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0030027"(lamellipodium)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0030427"(site of polarized growth)|go:"GO:0030516"(regulation of axon extension)|go:"GO:0030833"(regulation of actin filament polymerization)|go:"GO:0030838"(positive regulation of actin filament polymerization)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0043197"(dendritic spine)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045296"(cadherin binding)|go:"GO:0045987"(positive regulation of smooth muscle contraction)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0048812"(neuron projection morphogenesis)|go:"GO:0048870"(cell motility)|go:"GO:0051015"(actin filament binding)|go:"GO:0097062"(dendritic spine maintenance)|go:"GO:0097581"(lamellipodium organization)|go:"GO:1903146"(regulation of autophagy of mitochondrion)|go:"GO:1990023"(mitotic spindle midzone)|go:"GO:2001237"(negative regulation of extrinsic apoptotic signaling pathway)|interpro:IPR001452(Src homology-3)|interpro:IPR003134(Hs1/Cortactin)|interpro:IPR015503(Cortactin)|interpro:IPR035716|interpro:IPR036028|mint:Q14247|rcsb pdb:1X69|rcsb pdb:2D1X|reactome:R-HSA-5627123|reactome:R-HSA-8856828|ensembl:ENSG00000085733(gene)|ensembl:ENSG00000288401(gene)|ensembl:ENST00000301843(transcript)|ensembl:ENST00000671805(transcript)|go:"GO:0001726"(ruffle)|go:"GO:0002102"(podosome)|go:"GO:0005522"(profilin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005905"(clathrin-coated pit)|go:"GO:0005925"(focal adhesion)|go:"GO:0005938"(cell cortex)|refseq:NP_001171669.1|refseq:NP_612632.1|dip:DIP-33190N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uzhAnL5Fu9Mgg9/LWeNiaYIwNVU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14108 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1564650|uniprotkb:Q53Y63|uniprotkb:B4DKD8|uniprotkb:E7EM68|ensembl:ENSP00000264896 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:scrb2_human(display_long)|uniprotkb:Lysosome membrane protein II(gene name synonym)|uniprotkb:Scavenger receptor class B member 2(gene name synonym)|uniprotkb:85 kDa lysosomal membrane sialoglycoprotein(gene name synonym)|uniprotkb:CD36 antigen-like 2(gene name synonym)|uniprotkb:SCARB2(gene name)|psi-mi:SCARB2(display_short)|uniprotkb:CD36L2(gene name synonym)|uniprotkb:LIMPII(gene name synonym)|uniprotkb:LIMP2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001191184.1|refseq:NP_005497.1|ensembl:ENSG00000138760(gene)|ensembl:ENST00000264896(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001786"(phosphatidylserine binding)|go:"GO:0004888"(transmembrane signaling receptor activity)|go:"GO:0005044"(scavenger receptor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006622"(protein targeting to lysosome)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0007605"(sensory perception of sound)|go:"GO:0010008"(endosome membrane)|go:"GO:0010467"(gene expression)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0015485"(cholesterol binding)|go:"GO:0015917"(aminophospholipid transport)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0031210"(phosphatidylcholine binding)|go:"GO:0031902"(late endosome membrane)|go:"GO:0038024"(cargo receptor activity)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043471"(regulation of cellular carbohydrate catabolic process)|go:"GO:0051087"(chaperone binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904978"(regulation of endosome organization)|go:"GO:1905123"(regulation of glucosylceramidase activity)|go:"GO:1905671"(regulation of lysosome organization)|interpro:IPR002159(CD36 antigen)|interpro:IPR005429(Lysosome membrane protein II)|mint:Q14108|rcsb pdb:4F7B|rcsb pdb:4Q4B|rcsb pdb:4Q4F|rcsb pdb:4TVZ|rcsb pdb:4TW0|rcsb pdb:4TW2|rcsb pdb:5UPH|rcsb pdb:5XBM|rcsb pdb:6I2K|reactome:R-HSA-8856825|reactome:R-HSA-8856828 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:FXyG5dJv7OqGjSgl5slIqNxUqoI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14008 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-310585|uniprotkb:Q0VAX8|uniprotkb:Q14668|uniprotkb:Q05D70|uniprotkb:Q0VAX7|uniprotkb:Q2TA89|uniprotkb:Q6NSH4|intact:EBI-28968667|ensembl:ENSP00000432768 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ckap5_human(display_long)|uniprotkb:CKAP5(gene name)|psi-mi:CKAP5(display_short)|uniprotkb:KIAA0097(gene name synonym)|uniprotkb:Colonic and hepatic tumor overexpressed gene protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000312055|ensembl:ENSP00000310227|ensembl:ENST00000354558|ensembl:ENSP00000346566|ensembl:ENSP00000432768|refseq:NP_001008938.1|refseq:NP_055571.2|ensembl:ENSG00000175216(gene)|ensembl:ENST00000529230(transcript)|go:"GO:0000776"(kinetochore)|go:"GO:0000922"(spindle pole)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0007019"(microtubule depolymerization)|go:"GO:0007051"(spindle organization)|go:"GO:0007052"(mitotic spindle organization)|go:"GO:0007098"(centrosome cycle)|go:"GO:0008017"(microtubule binding)|go:"GO:0016020"(membrane)|go:"GO:0030951"(establishment or maintenance of microtubule cytoskeleton polarity)|go:"GO:0032991"(protein-containing complex)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0045296"(cadherin binding)|go:"GO:0046785"(microtubule polymerization)|go:"GO:0050658"(RNA transport)|go:"GO:0051298"(centrosome duplication)|go:"GO:0051301"(cell division)|go:"GO:0061863"(microtubule plus end polymerase)|go:"GO:0090063"(positive regulation of microtubule nucleation)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021133|interpro:IPR024395|interpro:IPR034085|mint:Q14008|rcsb pdb:4QMI|rcsb pdb:4QMJ|reactome:R-HSA-141444|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-2565942|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-5620912|reactome:R-HSA-5663220|reactome:R-HSA-68877|reactome:R-HSA-8854518|reactome:R-HSA-9648025 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3bgwyNEucxXwXdbxbJkJ07PC90w9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13813 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351450|uniprotkb:Q13186|uniprotkb:Q15324|uniprotkb:Q16606|uniprotkb:Q59EF1|uniprotkb:Q5VXV5|uniprotkb:Q5VXV6|uniprotkb:Q7Z6M5|uniprotkb:Q9P0V0|intact:EBI-4404719|intact:EBI-28985930|ensembl:ENSP00000361816 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sptn1_human(display_long)|uniprotkb:SPTAN1(gene name)|psi-mi:SPTAN1(display_short)|uniprotkb:SPTA2(gene name synonym)|uniprotkb:Alpha-II spectrin(gene name synonym)|uniprotkb:Fodrin alpha chain(gene name synonym)|uniprotkb:NEAS(gene name synonym)|uniprotkb:Spectrin, non-erythroid alpha subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001123910.1|refseq:NP_001182461.1|refseq:NP_003118.2|ensembl:ENSG00000197694(gene)|ensembl:ENST00000372731(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005829"(cytosol)|go:"GO:0008091"(spectrin)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0035580"(specific granule lumen)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045296"(cadherin binding)|go:"GO:0051693"(actin filament capping)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1904724"(tertiary granule lumen)|interpro:IPR001452(Src homology-3)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR014837(EF-hand, Ca insensitive)|interpro:IPR018159|interpro:IPR018247|interpro:IPR035825|interpro:IPR036028|mint:Q13813|rcsb pdb:2FOT|rcsb pdb:3F31|rcsb pdb:3FB2|rcsb pdb:5FW9|rcsb pdb:5FWB|rcsb pdb:5FWC|rcsb pdb:6ZEH|reactome:R-HSA-264870|reactome:R-HSA-373753|reactome:R-HSA-375165|reactome:R-HSA-445095|reactome:R-HSA-5673001|reactome:R-HSA-6798695|reactome:R-HSA-6807878|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9662360|reactome:R-HSA-9662361|ensembl:ENST00000358161|ensembl:ENSP00000350882|ensembl:ENSP00000361816|ensembl:ENST00000372739|ensembl:ENSP00000361824|dip:DIP-33141N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3d5XlsH+PSg32qNR/ZiooAJ/wH89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13555 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1383465|uniprotkb:O00561|uniprotkb:Q5SWX4|uniprotkb:Q8NIA4|uniprotkb:O15378|uniprotkb:Q13556|uniprotkb:Q5SQZ3|uniprotkb:Q5SQZ4|uniprotkb:Q8N4I3|uniprotkb:Q13279|uniprotkb:Q13282|uniprotkb:Q7KYX5|uniprotkb:A0A0A0MS52|uniprotkb:A0A0A0MT11 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:kcc2g_human(display_long)|uniprotkb:CAMK(gene name synonym)|uniprotkb:CAMK-II(gene name synonym)|uniprotkb:CAMK2G(gene name)|psi-mi:CAMK2G(display_short)|uniprotkb:CAMKG(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001213.2|refseq:NP_751909.1|refseq:NP_751913.1|refseq:XP_005270260.1|refseq:NP_001307827.1|refseq:NP_001191421.1|dip:DIP-51315N|mint:Q13555|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-877300|reactome:R-HSA-9022692|reactome:R-HSA-936837|reactome:R-HSA-9609736|reactome:R-HSA-9617324|reactome:R-HSA-9620244|reactome:R-HSA-9649948|reactome:R-HSA-9656223|go:"GO:0004683"(calmodulin-dependent protein kinase activity)|go:"GO:0004723"(calcium-dependent protein serine/threonine phosphatase activity)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005954"(calcium- and calmodulin-dependent protein kinase complex)|go:"GO:0007399"(nervous system development)|go:"GO:0010975"(regulation of neuron projection development)|go:"GO:0014733"(regulation of skeletal muscle adaptation)|go:"GO:0016020"(membrane)|go:"GO:0030073"(insulin secretion)|go:"GO:0030154"(cell differentiation)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0033017"(sarcoplasmic reticulum membrane)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043005"(neuron projection)|go:"GO:0051924"(regulation of calcium ion transport)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|interpro:IPR000719(Protein kinase, core)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR013543(Calcium/calmodulin dependent protein kinase II, association-domain)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR032710|rcsb pdb:2UX0|rcsb pdb:2V7O|reactome:R-HSA-111932|reactome:R-HSA-3371571|reactome:R-HSA-399719|reactome:R-HSA-438066|reactome:R-HSA-442729|reactome:R-HSA-442982|reactome:R-HSA-5576892|reactome:R-HSA-5578775|reactome:R-HSA-5673000|reactome:R-HSA-5673001|reactome:R-HSA-6802946 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qtCEps5UkV7tprB2QmjCDK5YyIo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13547 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-301834|uniprotkb:Q92534|ensembl:ENSP00000362649 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hdac1_human(display_long)|uniprotkb:HDAC1(gene name)|psi-mi:HDAC1(display_short)|uniprotkb:RPD3L1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000116478(gene)|ensembl:ENST00000373548(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000792"(heterochromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000979"(RNA polymerase II core promoter sequence-specific DNA binding)|go:"GO:0001046"(core promoter sequence-specific DNA binding)|go:"GO:0001975"(response to amphetamine)|go:"GO:0002039"(p53 binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0004407"(histone deacetylase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006325"(chromatin organization)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006346"(DNA methylation-dependent heterochromatin assembly)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006476"(protein deacetylation)|go:"GO:0007492"(endoderm development)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0009913"(epidermal cell differentiation)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016575"(histone deacetylation)|go:"GO:0016580"(Sin3 complex)|go:"GO:0016581"(NuRD complex)|go:"GO:0019899"(enzyme binding)|go:"GO:0021766"(hippocampus development)|go:"GO:0030182"(neuron differentiation)|go:"GO:0031000"(response to caffeine)|go:"GO:0032041"("NAD-dependent histone deacetylase activity (H3-K14 specific)")|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032732"(positive regulation of interleukin-1 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033558"(protein deacetylase activity)|go:"GO:0034599"(cellular response to oxidative stress)|go:"GO:0035851"(Krueppel-associated box domain binding)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0042493"|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042733"(embryonic digit morphogenesis)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043044"|go:"GO:0019213"(deacetylase activity)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070888"(E-box binding)|go:"GO:0070932"(histone H3 deacetylation)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:0071356"(cellular response to tumor necrosis factor)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1900221"(regulation of amyloid-beta clearance)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:2000273"(positive regulation of signaling receptor activity)|go:"GO:2000343"("positive regulation of chemokine (C-X-C motif) ligand 2 production")|go:"GO:2000676"(positive regulation of type B pancreatic cell apoptotic process)|go:"GO:2000757"(negative regulation of peptidyl-lysine acetylation)|go:"GO:2001243"(negative regulation of intrinsic apoptotic signaling pathway)|interpro:IPR000286(Histone deacetylase superfamily)|interpro:IPR003084(Histone deacetylase)|interpro:IPR023696|interpro:IPR023801|interpro:IPR037138|mint:Q13547|rcsb pdb:1TYI|rcsb pdb:4BKX|rcsb pdb:5ICN|rcsb pdb:6Z2J|rcsb pdb:6Z2K|rcsb pdb:7AO8|rcsb pdb:7AO9|rcsb pdb:7AOA|reactome:R-HSA-1362277|reactome:R-HSA-1362300|reactome:R-HSA-1538133|reactome:R-HSA-193670|reactome:R-HSA-201722|reactome:R-HSA-2122947|reactome:R-HSA-2173795|reactome:R-HSA-2173796|reactome:R-HSA-2644606|reactome:R-HSA-2894862|reactome:R-HSA-3214815|reactome:R-HSA-350054|reactome:R-HSA-3769402|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-4551638|reactome:R-HSA-4641265|reactome:R-HSA-6804758|reactome:R-HSA-69205|reactome:R-HSA-73762|reactome:R-HSA-8936459|reactome:R-HSA-8943724|reactome:R-HSA-9018519|reactome:R-HSA-9022538|reactome:R-HSA-9022692|go:"GO:0017053"(transcription repressor complex)|go:"GO:0043066"(negative regulation of apoptotic process)|reactome:R-HSA-9022699|reactome:R-HSA-9022702|reactome:R-HSA-9615017|reactome:R-HSA-9679191|reactome:R-HSA-983231|go:"GO:0043524"(negative regulation of neuron apoptotic process)|go:"GO:0043922"(negative regulation by host of viral transcription)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046676"(negative regulation of insulin secretion)|go:"GO:0047485"(protein N-terminus binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0052548"(regulation of endopeptidase activity)|go:"GO:0055093"(response to hyperoxia)|go:"GO:0060766"(negative regulation of androgen receptor signaling pathway)|go:"GO:0060789"(hair follicle placode formation)|go:"GO:0061029"(eyelid development in camera-type eye)|go:"GO:0061198"(fungiform papilla formation)|go:"GO:0043124"(negative regulation of I-kappaB kinase/NF-kappaB signaling)|refseq:NP_004955.2|dip:DIP-24184N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:RP+yIBWH55NgoPTY1nKXqeJL/xY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13509 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350989|uniprotkb:Q9BTZ0|uniprotkb:Q9BW10|ensembl:ENSP00000320295|uniprotkb:A8K854 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb3_human(display_long)|uniprotkb:TUBB3(gene name)|psi-mi:TUBB3(display_short)|uniprotkb:TUBB4(gene name synonym)|uniprotkb:Tubulin beta-III(gene name synonym)|uniprotkb:Tubulin beta-4 chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001184110.1|refseq:NP_006077.2|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|reactome:R-HSA-6807878|ensembl:ENSG00000258947(gene)|ensembl:ENST00000315491(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0007411"(axon guidance)|go:"GO:0030027"(lamellipodium)|go:"GO:0030175"(filopodium)|go:"GO:0030424"(axon)|go:"GO:0030425"(dendrite)|go:"GO:0030426"(growth cone)|go:"GO:0042277"(peptide binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071944"(cell periphery)|go:"GO:1990791"(dorsal root ganglion development)|go:"GO:1990890"(netrin receptor binding)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:Q13509|rcsb pdb:5IJ9|rcsb pdb:5JCO|rcsb pdb:6E7B|rcsb pdb:6S8L|rcsb pdb:6WSL|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|rcsb pdb:5IJ0|dip:DIP-31505N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:A69G+idFQmuzkmCsGyBtGVqglSo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13363 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13185 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-78176|ensembl:ENSP00000336687|ensembl:ENSP00000379670|uniprotkb:Q96CD7|uniprotkb:Q99409|uniprotkb:Q9BVS3|uniprotkb:Q9P0Z6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cbx3_human(display_long)|uniprotkb:CBX3(gene name)|psi-mi:CBX3(display_short)|uniprotkb:Heterochromatin protein 1 homolog gamma(gene name synonym)|uniprotkb:Modifier 2 protein(gene name synonym)|uniprotkb:HECH(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0000791"(euchromatin)|go:"GO:0000792"(heterochromatin)|go:"GO:0001221"(transcription coregulator binding)|go:"GO:0005634"(nucleus)|go:"GO:0005635"(nuclear envelope)|ensembl:ENSG00000122565(gene)|ensembl:ENST00000337620(transcript)|ensembl:ENST00000396386(transcript)|go:"GO:0000775"(chromosome, centromeric region)|go:"GO:0000779"(condensed chromosome, centromeric region)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000785"(chromatin)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005721"(pericentric heterochromatin)|go:"GO:0005819"(spindle)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0019899"(enzyme binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0048511"(rhythmic process)|go:"GO:0090575"(RNA polymerase II transcription regulator complex)|go:"GO:0090734"(site of DNA damage)|go:"GO:1990226"(histone methyltransferase binding)|interpro:IPR000953(Chromo domain)|interpro:IPR008251(Chromo shadow)|interpro:IPR016197(Chromo domain-like)|interpro:IPR017984|interpro:IPR023779|interpro:IPR023780|interpro:IPR038033|mint:Q13185|rcsb pdb:2L11|rcsb pdb:3DM1|rcsb pdb:3KUP|rcsb pdb:3TZD|go:"GO:0005637"(nuclear inner membrane)|rcsb pdb:6HW2|reactome:R-HSA-427389|reactome:R-HSA-73772|reactome:R-HSA-8953750|rcsb pdb:5T1I|refseq:NP_009207.2|refseq:NP_057671.2|refseq:XP_005249668.1|dip:DIP-5985N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6L5OQHfxCBkmPV5Z0XihmXx4mFQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13151 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-724092|ensembl:ENSP00000316042|intact:EBI-1043661|uniprotkb:Q6IB18 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:roa0_human(display_long)|uniprotkb:HNRPA0(gene name synonym)|uniprotkb:HNRNPA0(gene name)|psi-mi:HNRNPA0(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006796.1|ensembl:ENSG00000177733(gene)|ensembl:ENST00000314940(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006397"(mRNA processing)|go:"GO:0006954"(inflammatory response)|go:"GO:0019901"(protein kinase binding)|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0035925"(mRNA 3'-UTR AU-rich region binding)|go:"GO:0070935"(3'-UTR-mediated mRNA stabilization)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034801|interpro:IPR035979|mint:Q13151|reactome:R-HSA-72163|reactome:R-HSA-72203 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:buyQxR8FLxd4N6jRhwVsroeGrBw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13045 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351549|ensembl:ENSP00000491480|ensembl:ENSP00000324573|uniprotkb:B4DIL0|uniprotkb:F5H407|uniprotkb:J3QLG3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:flii_human(display_long)|uniprotkb:FLII(gene name)|psi-mi:FLII(display_short)|uniprotkb:FLIL(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002009.1|refseq:NP_001243193.1|ensembl:ENST00000327031(transcript)|ensembl:ENST00000638207(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005903"(brush border)|go:"GO:0005925"(focal adhesion)|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030239"(myofibril assembly)|go:"GO:0034451"(centriolar satellite)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR003591(Leucine-rich repeat, typical subtype)|interpro:IPR007122(Gelsolin)|interpro:IPR007123(Gelsolin region)|interpro:IPR029006|interpro:IPR029919|interpro:IPR032675|mint:Q13045|ensembl:ENSG00000177731(gene)|ensembl:ENSG00000284571(gene)|refseq:NP_001243194.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:hzls0Ir+lr0+wNsTUeIURV3fXVQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q12906 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-78756|uniprotkb:A8K6F2|uniprotkb:O43409|uniprotkb:Q6P1X1|uniprotkb:Q86XY7|uniprotkb:Q99544|uniprotkb:Q99545|uniprotkb:Q9BZH4|uniprotkb:Q9BZH5|uniprotkb:Q9NQ95|uniprotkb:Q9NQ96|uniprotkb:Q9NQ97|uniprotkb:Q9NQ98|uniprotkb:Q9NQ99|uniprotkb:Q9NQA0|uniprotkb:Q9NQA1|uniprotkb:Q9NQA2|uniprotkb:Q9NRN2|uniprotkb:Q9NRN3|uniprotkb:Q9NRN4|uniprotkb:Q9UMZ9|uniprotkb:Q9UN00|uniprotkb:Q9UN84|uniprotkb:Q9UNA2|ensembl:ENSP00000468156|intact:EBI-10970055|uniprotkb:G5E9M5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ilf3_human(display_long)|uniprotkb:ILF3(gene name)|psi-mi:ILF3(display_short)|uniprotkb:MPHOSPH4(gene name synonym)|uniprotkb:NF90(gene name synonym)|uniprotkb:Nuclear factor of activated T-cells 90 kDa(gene name synonym)|uniprotkb:Double-stranded RNA-binding protein 76(gene name synonym)|uniprotkb:Translational control protein 80(gene name synonym)|uniprotkb:Nuclear factor associated with dsRNA(gene name synonym)|uniprotkb:M-phase phosphoprotein 4(gene name synonym)|uniprotkb:DRBF(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000129351(gene)|ensembl:ENST00000590261(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0003727"(single-stranded RNA binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0035925"(mRNA 3'-UTR AU-rich region binding)|go:"GO:0045071"(negative regulation of viral genome replication)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0051607"(defense response to virus)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR006561(DZF)|interpro:IPR014720(Double-stranded RNA-binding-like)|interpro:IPR033099|interpro:IPR043519|mint:Q12906|rcsb pdb:2L33|rcsb pdb:3P1X|refseq:NP_001131145.1|refseq:NP_004507.2|refseq:NP_036350.2|refseq:NP_060090.2|refseq:NP_703194.1|refseq:XP_016882252.1|refseq:XP_011526286.2|dip:DIP-29853N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iri+WBUtektANRSCpBO1XBCd9Wk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q12905 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357925|uniprotkb:A6NDB0|uniprotkb:Q5SR10|uniprotkb:Q5SR11|uniprotkb:Q7L7R3|uniprotkb:Q9BWD4|uniprotkb:Q9P1N0|uniprotkb:B2R8G7|ensembl:ENSP00000355011 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ilf2_human(display_long)|uniprotkb:PRO3063(orf name)|uniprotkb:NF45(gene name synonym)|uniprotkb:ILF2(gene name)|psi-mi:ILF2(display_short)|uniprotkb:Nuclear factor of activated T-cells 45 kDa(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004506.2|refseq:NP_001254738.1|ensembl:ENSG00000143621(gene)|ensembl:ENST00000361891(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0016020"(membrane)|go:"GO:0035580"(specific granule lumen)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:1904724"(tertiary granule lumen)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR006561(DZF)|interpro:IPR043519|mint:Q12905|reactome:R-HSA-6798695 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HwUDuY6Ev7csoTThxZCW8nJT88o9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q0ZGT2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351705|uniprotkb:B4DPZ7|uniprotkb:A0PJ84|uniprotkb:Q0D2H2|uniprotkb:Q14CC2|uniprotkb:Q14CC3|uniprotkb:Q16081|uniprotkb:Q7Z2X0|uniprotkb:Q96DL0|uniprotkb:Q9Y2V1|intact:EBI-2555043|ensembl:ENSP00000333938 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nexn_human(display_long)|uniprotkb:F-actin-binding protein(gene name synonym)|uniprotkb:Nelin(gene name synonym)|uniprotkb:NEXN(gene name)|psi-mi:NEXN(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001165780.1|refseq:NP_653174.3|ensembl:ENSG00000162614(gene)|ensembl:ENST00000334785(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0007156"(homophilic cell adhesion via plasma membrane adhesion molecules)|go:"GO:0007411"(axon guidance)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030018"(Z disc)|go:"GO:0030334"(regulation of cell migration)|go:"GO:0030424"(axon)|go:"GO:0051015"(actin filament binding)|go:"GO:0051493"(regulation of cytoskeleton organization)|go:"GO:0070593"(dendrite self-avoidance)|go:"GO:0098632"(cell-cell adhesion mediator activity)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013098(Immunoglobulin I-set)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR043204|mint:Q0ZGT2|go:"GO:0008307"(structural constituent of muscle)|refseq:XP_005271380.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YtKRiGq1tjrPhdFzpS5TKVn3So89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q08211 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352022|intact:EBI-1058470|uniprotkb:Q5VY62|uniprotkb:Q6PD69|uniprotkb:Q99556|uniprotkb:B2RNV4|uniprotkb:Q05CI5|uniprotkb:Q12803|uniprotkb:Q32Q22|ensembl:ENSP00000356520 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dhx9_human(display_long)|uniprotkb:DHX9(gene name)|psi-mi:DHX9(display_short)|uniprotkb:DDX9(gene name synonym)|uniprotkb:NDH2(gene name synonym)|uniprotkb:DExH-box helicase 9(gene name synonym)|uniprotkb:RNA helicase A(gene name synonym)|uniprotkb:LKP(gene name synonym)|uniprotkb:Nuclear DNA helicase II(gene name synonym)|uniprotkb:DEAH box protein 9(gene name synonym)|uniprotkb:Leukophysin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001348.2|dip:DIP-31504N|go:"GO:0017111"(nucleoside-triphosphatase activity)|go:"GO:0030423"(targeting of mRNA for destruction involved in RNA interference)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0032508"(DNA duplex unwinding)|go:"GO:0032727"(positive regulation of interferon-alpha production)|go:"GO:0032728"(positive regulation of interferon-beta production)|go:"GO:0032741"(positive regulation of interleukin-18 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033679"(3'-5' DNA/RNA helicase activity)|go:"GO:0034458"(3'-5' RNA helicase activity)|go:"GO:0034622"|go:"GO:0035197"(siRNA binding)|go:"GO:0035613"(RNA stem-loop binding)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0039695"(DNA-templated viral transcription)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0043138"(3'-5' DNA helicase activity)|go:"GO:0044806"(G-quadruplex DNA unwinding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045142"(triplex DNA binding)|go:"GO:0045739"(positive regulation of DNA repair)|go:"GO:0045740"(positive regulation of DNA replication)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046833"(positive regulation of RNA export from nucleus)|go:"GO:0046872"(metal ion binding)|go:"GO:0047429"(nucleoside-triphosphate diphosphatase activity)|go:"GO:0048146"(positive regulation of fibroblast proliferation)|go:"GO:0048511"(rhythmic process)|go:"GO:0050434"(positive regulation of viral transcription)|go:"GO:0050684"(regulation of mRNA processing)|go:"GO:0050691"(regulation of defense response to virus by host)|go:"GO:0050729"(positive regulation of inflammatory response)|go:"GO:0051028"(mRNA transport)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0060760"(positive regulation of response to cytokine stimulus)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0061676"(importin-alpha family protein binding)|go:"GO:0070063"(RNA polymerase binding)|go:"GO:0070269"(pyroptosis)|go:"GO:0070578"(RISC-loading complex)|go:"GO:0070922"(small RNA loading onto RISC)|go:"GO:0070934"(CRD-mediated mRNA stabilization)|go:"GO:0070937"(CRD-mediated mRNA stability complex)|go:"GO:0071356"(cellular response to tumor necrosis factor)|go:"GO:0071360"(cellular response to exogenous dsRNA)|go:"GO:0097165"(nuclear stress granule)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1903608"(protein localization to cytoplasmic stress granule)|go:"GO:1905172"(RISC complex binding)|go:"GO:1905538"(polysome binding)|go:"GO:1905698"(positive regulation of polysome binding)|go:"GO:1990518"(single-stranded 3'-5' DNA helicase activity)|go:"GO:1990825"(sequence-specific mRNA binding)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000373"("positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity")|go:"GO:2000637"(positive regulation of gene silencing by miRNA)|go:"GO:2000765"(regulation of cytoplasmic translation)|go:"GO:2000767"(positive regulation of cytoplasmic translation)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR002464(DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site)|interpro:IPR007502(Helicase-associated region)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR011709(Region of unknown function DUF1605)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR014720(Double-stranded RNA-binding-like)|interpro:IPR027417|interpro:IPR044445|interpro:IPR044446|interpro:IPR044447|mint:Q08211|rcsb pdb:3LLM|rcsb pdb:3VYX|rcsb pdb:3VYY|reactome:R-HSA-1810476|reactome:R-HSA-3134963|reactome:R-HSA-72163|go:"GO:1904973"(positive regulation of viral translation)|ensembl:ENSG00000135829(gene)|ensembl:ENST00000367549(transcript)|go:"GO:0000380"(alternative mRNA splicing, via spliceosome)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000993"(RNA polymerase II complex binding)|go:"GO:0001069"(regulatory region RNA binding)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003677"(DNA binding)|go:"GO:0003678"(DNA helicase activity)|go:"GO:0003688"(DNA replication origin binding)|go:"GO:0003690"(double-stranded DNA binding)|go:"GO:0003697"(single-stranded DNA binding)|go:"GO:0003712"(transcription coregulator activity)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0003727"(single-stranded RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005726"(perichromatin fibrils)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0006260"(DNA replication)|go:"GO:0006353"(DNA-templated transcription, termination)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006954"(inflammatory response)|go:"GO:0010501"(RNA secondary structure unwinding)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016442"(RISC complex)|go:"GO:0016604"(nuclear body) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:b0VP2Frtvwa9WbYVMwB6TbV2uGU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q07065 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-702400|uniprotkb:Q504S5|uniprotkb:Q53ES6|ensembl:ENSP00000367265 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ckap4_human(display_long)|uniprotkb:CKAP4(gene name)|psi-mi:CKAP4(display_short)|uniprotkb:63-kDa cytoskeleton-linking membrane protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006816.2|ensembl:ENSG00000136026(gene)|ensembl:ENST00000378026(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005811"(lipid droplet)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0035577"(azurophil granule membrane)|go:"GO:0035579"(specific granule membrane)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042599"(lamellar body)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0070062"(extracellular exosome)|interpro:IPR028428|mint:Q07065|reactome:R-HSA-381426|reactome:R-HSA-5683826|reactome:R-HSA-6798695|reactome:R-HSA-8957275|reactome:R-HSA-9696264|reactome:R-HSA-9696270 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Q1hrxqh5k4Myf7J0To8Ecm/xxs49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q06830 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353193|ensembl:ENSP00000262746|ensembl:ENSP00000361152|ensembl:ENSP00000389047|ensembl:ENSP00000407034|ensembl:ENSP00000503140|uniprotkb:P35703|uniprotkb:Q2V576|uniprotkb:Q5T154|uniprotkb:Q5T155|uniprotkb:B5BU26|uniprotkb:D3DPZ8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:prdx1_human(display_long)|uniprotkb:PRDX1(gene name)|psi-mi:PRDX1(display_short)|uniprotkb:PAGA(gene name synonym)|uniprotkb:PAGB(gene name synonym)|uniprotkb:TDPX2(gene name synonym)|uniprotkb:Thioredoxin peroxidase 2(gene name synonym)|uniprotkb:Thioredoxin-dependent peroxide reductase 2(gene name synonym)|uniprotkb:Proliferation-associated gene protein(gene name synonym)|uniprotkb:Natural killer cell-enhancing factor A(gene name synonym)|uniprotkb:Thioredoxin-dependent peroxiredoxin 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000117450(gene)|ensembl:ENST00000262746(transcript)|ensembl:ENST00000319248(transcript)|ensembl:ENST00000424390(transcript)|ensembl:ENST00000447184(transcript)|ensembl:ENST00000676549(transcript)|go:"GO:0001895"(retina homeostasis)|go:"GO:0003723"(RNA binding)|go:"GO:0001501"(skeletal system development)|go:"GO:0004601"(peroxidase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0008283"(cell population proliferation)|go:"GO:0008379"(thioredoxin peroxidase activity)|go:"GO:0019430"(removal of superoxide radicals)|go:"GO:0030101"(natural killer cell activation)|go:"GO:0032872"(regulation of stress-activated MAPK cascade)|go:"GO:0034101"(erythrocyte homeostasis)|go:"GO:0042267"(natural killer cell mediated cytotoxicity)|go:"GO:0042470"(melanosome)|go:"GO:0042744"(hydrogen peroxide catabolic process)|go:"GO:0042802"(identical protein binding)|go:"GO:0045296"(cadherin binding)|go:"GO:0045321"(leukocyte activation)|go:"GO:0045454"(cell redox homeostasis)|go:"GO:0070062"(extracellular exosome)|go:"GO:1901222"(regulation of NIK/NF-kappaB signaling)|interpro:IPR000866(Alkyl hydroperoxide reductase/ Thiol specific antioxidant/ Mal allergen)|interpro:IPR013766(Thioredoxin domain)|interpro:IPR019479|interpro:IPR024706|interpro:IPR036249|mint:Q06830|rcsb pdb:2RII|rcsb pdb:3HY2|rcsb pdb:4XCS|reactome:R-HSA-3299685|reactome:R-HSA-5628897|reactome:R-HSA-8862803|refseq:NP_001189360.1|refseq:NP_002565.1|refseq:NP_859047.1|refseq:NP_859048.1|dip:DIP-33152N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZM5ZXF900izH81QVqgd2+opwMrs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q05682 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1642116|uniprotkb:Q13978|uniprotkb:Q13979|uniprotkb:Q14741|uniprotkb:Q14742|uniprotkb:Q9UD91|uniprotkb:A8K0X1|ensembl:ENSP00000354826 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cald1_human(display_long)|uniprotkb:CALD1(gene name)|psi-mi:CALD1(display_short)|uniprotkb:CAD(gene name synonym)|uniprotkb:CDM(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004333.1|refseq:NP_149129.2|refseq:NP_149130.1|refseq:NP_149131.1|refseq:NP_149347.2|refseq:XP_016868140.1|refseq:XP_016868141.1|ensembl:ENSG00000122786(gene)|ensembl:ENST00000361675(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0003779"(actin binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005523"(tropomyosin binding)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0006936"(muscle contraction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0017022"(myosin binding)|go:"GO:0030016"(myofibril)|go:"GO:0030478"(actin cap)|go:"GO:0045296"(cadherin binding)|go:"GO:0051017"(actin filament bundle assembly)|interpro:IPR006017(Caldesmon)|interpro:IPR006018(Caldesmon and lymphocyte specific protein)|mint:Q05682|reactome:R-HSA-445355 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fvHmtqnSPixs/3150s7LOA1Bvpw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q04941 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-608347|ensembl:ENSP00000365505|uniprotkb:A6NDT7|uniprotkb:Q32MM8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:plp2_human(display_long)|uniprotkb:Intestinal membrane A4 protein(gene name synonym)|uniprotkb:Differentiation-dependent protein A4(gene name synonym)|uniprotkb:PLP2(gene name)|psi-mi:PLP2(display_short)|uniprotkb:A4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000102007(gene)|ensembl:ENST00000376327(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0006811"(ion transport)|go:"GO:0006935"(chemotaxis)|go:"GO:0015075"(ion transmembrane transporter activity)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019221"(cytokine-mediated signaling pathway)|go:"GO:0019956"(chemokine binding)|interpro:IPR008253(Marvel)|refseq:NP_002659.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:mQOlRVDVw9W4XWAzftif1tnKEdU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q03135 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-603614|ensembl:ENSP00000339191|uniprotkb:Q9UGP1|uniprotkb:Q9UNG1|uniprotkb:Q9UQH6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cav1_human(display_long)|uniprotkb:CAV1(gene name)|psi-mi:CAV1(display_short)|uniprotkb:CAV(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031623"(receptor internalization)|go:"GO:0031901"(early endosome membrane)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032092"(positive regulation of protein binding)|go:"GO:0032507"(maintenance of protein location in cell)|go:"GO:0032570"(response to progesterone)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033137"(negative regulation of peptidyl-serine phosphorylation)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0033484"(nitric oxide homeostasis)|go:"GO:0034141"(positive regulation of toll-like receptor 3 signaling pathway)|go:"GO:0038016"(insulin receptor internalization)|go:"GO:0042310"(vasoconstriction)|go:"GO:0042532"(negative regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042632"(cholesterol homeostasis)|go:"GO:0042802"(identical protein binding)|go:"GO:0043085"(positive regulation of catalytic activity)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0043409"(negative regulation of MAPK cascade)|go:"GO:0043627"(response to estrogen)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0044860"(protein localization to plasma membrane raft)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045019"(negative regulation of nitric oxide biosynthetic process)|go:"GO:0045121"(membrane raft)|go:"GO:0045907"(positive regulation of vasoconstriction)|go:"GO:0046426"(negative regulation of receptor signaling pathway via JAK-STAT)|go:"GO:0031398"(positive regulation of protein ubiquitination)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048550"(negative regulation of pinocytosis)|go:"GO:0050998"(nitric-oxide synthase binding)|go:"GO:0051001"(negative regulation of nitric-oxide synthase activity)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051117"(ATPase binding)|go:"GO:0051480"(regulation of cytosolic calcium ion concentration)|go:"GO:0051592"(response to calcium ion)|go:"GO:0051899"(membrane depolarization)|go:"GO:0052547"(regulation of peptidase activity)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0055074"(calcium ion homeostasis)|go:"GO:0060056"(mammary gland involution)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0060355"(positive regulation of cell adhesion molecule production)|go:"GO:0060546"(negative regulation of necroptotic process)|go:"GO:0061099"(negative regulation of protein tyrosine kinase activity)|go:"GO:0070320"(inward rectifier potassium channel inhibitor activity)|go:"GO:0070836"(caveola assembly)|go:"GO:0071360"(cellular response to exogenous dsRNA)|go:"GO:0071375"(cellular response to peptide hormone stimulus)|go:"GO:0071455"(cellular response to hyperoxia)|go:"GO:0071560"(cellular response to transforming growth factor beta stimulus)|go:"GO:0071711"(basement membrane organization)|go:"GO:0072584"(caveolin-mediated endocytosis)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0086098"(angiotensin-activated signaling pathway involved in heart process)|go:"GO:1903361"(protein localization to basolateral plasma membrane)|go:"GO:1903598"(positive regulation of gap junction assembly)|go:"GO:1903609"(negative regulation of inward rectifier potassium channel activity)|go:"GO:2000286"(receptor internalization involved in canonical Wnt signaling pathway)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:2000535"(regulation of entry of bacterium into host cell)|go:"GO:2000811"(negative regulation of anoikis)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:2001238"(positive regulation of extrinsic apoptotic signaling pathway)|go:"GO:2001244"(positive regulation of intrinsic apoptotic signaling pathway)|interpro:IPR001612(Caveolin)|interpro:IPR015504(Caveolin-1)|go:"GO:0097190"(apoptotic signaling pathway)|go:"GO:0098903"(regulation of membrane repolarization during action potential)|interpro:IPR018361|mint:Q03135|go:"GO:0098909"(regulation of cardiac muscle cell action potential involved in regulation of contraction)|reactome:R-HSA-163560|go:"GO:0098911"(regulation of ventricular cardiac muscle cell action potential)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|reactome:R-HSA-203615|reactome:R-HSA-203641|reactome:R-HSA-210991|reactome:R-HSA-4641262|go:"GO:1900027"(regulation of ruffle assembly)|go:"GO:1900085"(negative regulation of peptidyl-tyrosine autophosphorylation)|go:"GO:1901380"(negative regulation of potassium ion transmembrane transport)|go:"GO:1901844"(regulation of cell communication by electrical coupling involved in cardiac conduction)|go:"GO:1903071"(positive regulation of ER-associated ubiquitin-dependent protein catabolic process)|reactome:R-HSA-5218920|reactome:R-HSA-8980692|reactome:R-HSA-9009391|reactome:R-HSA-9013026|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013405|reactome:R-HSA-9013406|reactome:R-HSA-9013407|reactome:R-HSA-9013408|reactome:R-HSA-9013409|reactome:R-HSA-9035034|reactome:R-HSA-9013423|reactome:R-HSA-9617828|reactome:R-HSA-9696264|reactome:R-HSA-9696270|reactome:R-HSA-9696273|ensembl:ENST00000341049(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000139"(Golgi membrane)|ensembl:ENSG00000105974(gene)|go:"GO:0001525"(angiogenesis)|go:"GO:0001570"(vasculogenesis)|go:"GO:0001666"(response to hypoxia)|go:"GO:0001937"(negative regulation of endothelial cell proliferation)|go:"GO:0001960"(negative regulation of cytokine-mediated signaling pathway)|go:"GO:0002080"(acrosomal membrane)|go:"GO:0002095"(caveolar macromolecular signaling complex)|go:"GO:0002931"(response to ischemia)|go:"GO:0003057"(regulation of the force of heart contraction by chemical signal)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005113"(patched binding)|go:"GO:0005768"(endosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005901"(caveola)|go:"GO:0005925"(focal adhesion)|go:"GO:0005929"(cilium)|go:"GO:0005938"(cell cortex)|go:"GO:0006641"(triglyceride metabolic process)|go:"GO:0006816"(calcium ion transport)|go:"GO:0006940"(regulation of smooth muscle contraction)|go:"GO:0007519"(skeletal muscle tissue development)|go:"GO:0007595"(lactation)|go:"GO:0008104"(protein localization)|go:"GO:0009267"(cellular response to starvation)|go:"GO:0009617"(response to bacterium)|go:"GO:0010524"(positive regulation of calcium ion transport into cytosol)|go:"GO:0010608"(posttranscriptional regulation of gene expression)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0010875"(positive regulation of cholesterol efflux)|go:"GO:0015031"(protein transport)|go:"GO:0015485"(cholesterol binding)|go:"GO:0016020"(membrane)|go:"GO:0016050"(vesicle organization)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0016504"(peptidase activator activity)|go:"GO:0019065"(receptor-mediated endocytosis of virus by host cell)|go:"GO:0019217"(regulation of fatty acid metabolic process)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019915"(lipid storage)|go:"GO:0030154"(cell differentiation)|go:"GO:0030193"(regulation of blood coagulation)|go:"GO:0030301"(cholesterol transport)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030512"(negative regulation of transforming growth factor beta receptor signaling pathway)|go:"GO:0030514"(negative regulation of BMP signaling pathway)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0030674"(protein-macromolecule adaptor activity)|go:"GO:0030857"(negative regulation of epithelial cell differentiation)|go:"GO:0030879"(mammary gland development)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031295"(T cell costimulation)|go:"GO:0031397"(negative regulation of protein ubiquitination)|go:"GO:0006874"(cellular calcium ion homeostasis)|refseq:NP_001744.2|dip:DIP-5960N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:+JhGp5YmhT3JLeTgHHBTHu9r34c9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q03001 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-310758|uniprotkb:Q5TBT0|uniprotkb:Q8N1T8|uniprotkb:Q8N8J3|uniprotkb:Q8WXK9|uniprotkb:Q96AK9|uniprotkb:Q96DQ5|uniprotkb:B7Z3H1|uniprotkb:Q9UN10|uniprotkb:Q9H555|uniprotkb:Q5TBT2|uniprotkb:Q8WXK8|uniprotkb:O94833|uniprotkb:Q12825|uniprotkb:Q13266|uniprotkb:Q13267|uniprotkb:Q13775|uniprotkb:Q5TF23|uniprotkb:Q96J76|uniprotkb:Q96QT5|uniprotkb:Q9UGD7|uniprotkb:Q9UGD8|intact:EBI-350219|uniprotkb:E7ERU0|intact:EBI-350252|uniprotkb:Q5TF24|intact:EBI-310783 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dyst_human(display_long)|uniprotkb:DST(gene name)|psi-mi:DST(display_short)|uniprotkb:BPAG1(gene name synonym)|uniprotkb:DMH(gene name synonym)|uniprotkb:DT(gene name synonym)|uniprotkb:KIAA0728(gene name synonym)|uniprotkb:230 kDa bullous pemphigoid antigen(gene name synonym)|uniprotkb:Hemidesmosomal plaque protein(gene name synonym)|uniprotkb:Dystonia musculorum protein(gene name synonym)|uniprotkb:BP230(gene name synonym)|uniprotkb:BP240(gene name synonym)|uniprotkb:230/240 kDa bullous pemphigoid antigen(gene name synonym)|uniprotkb:Bullous pemphigoid antigen 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_016866713.1|refseq:NP_001714.1|refseq:NP_056363.2|mint:Q03001|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005604"(basement membrane)|go:"GO:0005634"(nucleus)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005882"(intermediate filament)|go:"GO:0005925"(focal adhesion)|go:"GO:0005938"(cell cortex)|go:"GO:0007010"(cytoskeleton organization)|go:"GO:0007155"(cell adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0008017"(microtubule binding)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008090"(retrograde axonal transport)|go:"GO:0009611"(response to wounding)|go:"GO:0009925"(basal plasma membrane)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030011"(maintenance of cell polarity)|go:"GO:0030018"(Z disc)|go:"GO:0030056"(hemidesmosome)|go:"GO:0030424"(axon)|go:"GO:0031122"(cytoplasmic microtubule organization)|go:"GO:0031252"(cell leading edge)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031581"(hemidesmosome assembly)|go:"GO:0031673"(H zone)|go:"GO:0035371"(microtubule plus-end)|go:"GO:0042060"(wound healing)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0045104"(intermediate filament cytoskeleton organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0048870"(cell motility)|go:"GO:0051010"(microtubule plus-end binding)|go:"GO:1904115"(axon cytoplasm)|interpro:IPR018159|interpro:IPR018247|interpro:IPR035915|interpro:IPR036534|interpro:IPR036872|interpro:IPR041573|interpro:IPR041615|interpro:IPR043197|rcsb pdb:3GJO|reactome:R-HSA-2022090|reactome:R-HSA-446107|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9696264|reactome:R-HSA-9696270|reactome:R-HSA-9696273|interpro:IPR001101(Plectin repeat)|interpro:IPR001452(Src homology-3)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR003108(Growth-arrest-specific protein 2)|interpro:IPR011992(EF-Hand type)|ensembl:ENST00000244364|ensembl:ENSP00000244364|ensembl:ENSG00000151914|ensembl:ENST00000370765|ensembl:ENSP00000359801|ensembl:ENST00000370788|ensembl:ENSP00000359824|ensembl:ENST00000439203|ensembl:ENSP00000404924|refseq:NP_001138241.1|refseq:NP_001138242.1|refseq:NP_899236.1|dip:DIP-33131N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5jynCc9AQYiyXSw6P4v3wzlVNU49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q02878 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-359655|uniprotkb:Q2M3Q3|uniprotkb:Q8WW97|ensembl:ENSP00000202773|ensembl:ENSP00000403172 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl6_human(display_long)|uniprotkb:RPL6(gene name)|psi-mi:RPL6(display_short)|uniprotkb:TXREB1(gene name synonym)|uniprotkb:Tax-responsive enhancer element-binding protein 107(gene name synonym)|uniprotkb:Neoplasm-related protein C140(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL6(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000961.2|refseq:NP_001019833.1|ensembl:ENSG00000089009(gene)|ensembl:ENST00000202773(transcript)|ensembl:ENST00000424576(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045296"(cadherin binding)|interpro:IPR000915(Ribosomal protein L6E)|interpro:IPR005568(Ribosomal protein L6, N-terminal)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR041997|mint:Q02878|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_001307066.1|refseq:NP_001307067.1|refseq:NP_001307068.1|refseq:NP_001307069.1|refseq:NP_001307070.1|refseq:XP_016875270.1|refseq:XP_016875271.1|dip:DIP-27547N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Y7fx3ToInzucV2QmI8KLSdHxai09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q01082 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351561|intact:EBI-1642531|uniprotkb:O60837|uniprotkb:Q16057|uniprotkb:Q53R99|uniprotkb:Q59ER3|uniprotkb:Q8IX99|uniprotkb:B2RP63|ensembl:ENSP00000349259 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sptb2_human(display_long)|uniprotkb:SPTBN1(gene name)|psi-mi:SPTBN1(display_short)|uniprotkb:SPTB2(gene name synonym)|uniprotkb:Spectrin, non-erythroid beta chain 1(gene name synonym)|uniprotkb:Beta-II spectrin(gene name synonym)|uniprotkb:Fodrin beta chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003119.2|refseq:NP_842565.2|ensembl:ENSG00000115306(gene)|ensembl:ENST00000356805(transcript)|go:"GO:0000281"(mitotic cytokinesis)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005543"(phospholipid binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007009"(plasma membrane organization)|go:"GO:0007182"(common-partner SMAD protein phosphorylation)|go:"GO:0008091"(spectrin)|go:"GO:0014069"(postsynaptic density)|go:"GO:0014731"(spectrin-associated cytoskeleton)|go:"GO:0030506"(ankyrin binding)|go:"GO:0030673"(axolemma)|go:"GO:0031430"(M band)|go:"GO:0032437"(cuticular plate)|go:"GO:0032743"(positive regulation of interleukin-2 production)|go:"GO:0043001"(Golgi to plasma membrane protein transport)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045296"(cadherin binding)|go:"GO:0051020"(GTPase binding)|go:"GO:0051693"(actin filament capping)|go:"GO:0060390"(regulation of SMAD protein signal transduction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071709"(membrane assembly)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1903076"(regulation of protein localization to plasma membrane)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001605(Spectrin/pleckstrin-like)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR002017(Spectrin repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR016343(Spectrin, beta subunit)|interpro:IPR018159|interpro:IPR036872|interpro:IPR041681|mint:Q01082|rcsb pdb:1AA2|rcsb pdb:1BKR|rcsb pdb:3EDV|reactome:R-HSA-375165|reactome:R-HSA-445095|reactome:R-HSA-5673001|reactome:R-HSA-6807878|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9703465|reactome:R-HSA-373753|refseq:XP_005264574.1|refseq:XP_006712150.1|refseq:XP_016860268.1|refseq:XP_016860269.1|refseq:XP_016860270.1|dip:DIP-33182N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rQJxsoEirg87umLjsEwHcQ0/blQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q00839 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351126|uniprotkb:O75507|uniprotkb:Q8N174|uniprotkb:Q96HY9|uniprotkb:Q9BQ09|ensembl:ENSP00000491215 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hnrpu_human(display_long)|uniprotkb:HNRNPU(gene name)|psi-mi:HNRNPU(display_short)|uniprotkb:SAFA(gene name synonym)|uniprotkb:U21.1(gene name synonym)|uniprotkb:HNRPU(gene name synonym)|uniprotkb:p120(gene name synonym)|uniprotkb:pp120(gene name synonym)|uniprotkb:C1orf199(gene name synonym)|uniprotkb:GRIP120(gene name synonym)|uniprotkb:Nuclear p120 ribonucleoprotein(gene name synonym)|uniprotkb:Scaffold-attachment factor A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004492.2|refseq:NP_114032.2|ensembl:ENSG00000153187(gene)|ensembl:ENST00000640218(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000228"(nuclear chromosome)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0000776"(kinetochore)|go:"GO:0000922"(spindle pole)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000993"(RNA polymerase II complex binding)|go:"GO:0001097"(TFIIH-class transcription factor complex binding)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003677"(DNA binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003690"(double-stranded DNA binding)|go:"GO:0003697"(single-stranded DNA binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0003727"(single-stranded RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:1990498"(mitotic spindle microtubule)|go:"GO:0098577"(inactive sex chromosome)|go:"GO:0098963"(dendritic transport of messenger ribonucleoprotein complex)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|go:"GO:1990837"(sequence-specific double-stranded DNA binding)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:1990845"(adaptive thermogenesis)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000373"("positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity")|go:"GO:2000648"(positive regulation of stem cell proliferation)|go:"GO:2000737"(negative regulation of stem cell differentiation)|interpro:IPR001870("B302 (SPRY)-like")|interpro:IPR003034(DNA-binding SAP)|interpro:IPR003877(SPla/RYanodine receptor SPRY)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR026745|interpro:IPR027417|interpro:IPR035778|interpro:IPR036361|interpro:IPR043136|mint:Q00839|rcsb pdb:1ZRJ|reactome:R-HSA-72163|reactome:R-HSA-72203|go:"GO:0099122"(RNA polymerase II C-terminal domain binding)|go:"GO:1901673"(regulation of mitotic spindle assembly)|go:"GO:1902275"(regulation of chromatin organization)|go:"GO:1902425"(positive regulation of attachment of mitotic spindle microtubules to kinetochore)|go:"GO:1902889"(protein localization to spindle microtubule)|go:"GO:1990023"(mitotic spindle midzone)|go:"GO:1990280"(RNA localization to chromatin)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005697"(telomerase holoenzyme complex)|go:"GO:0005813"(centrosome)|go:"GO:0006325"(chromatin organization)|go:"GO:0006396"(RNA processing)|go:"GO:0007049"(cell cycle)|go:"GO:0007346"(regulation of mitotic cell cycle)|go:"GO:0008143"("poly(A) binding")|go:"GO:0009048"(dosage compensation by inactivation of X chromosome)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0016363"(nuclear matrix)|go:"GO:0016607"(nuclear speck)|go:"GO:0017069"(snRNA binding)|go:"GO:0017130"("poly(C) RNA binding")|go:"GO:0030496"(midbody)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0032211"(negative regulation of telomere maintenance via telomerase)|go:"GO:0032839"(dendrite cytoplasm)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033673"(negative regulation of kinase activity)|go:"GO:0034046"("poly(G) binding")|go:"GO:0034244"(negative regulation of transcription elongation from RNA polymerase II promoter)|go:"GO:0036002"(pre-mRNA binding)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042802"(identical protein binding)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048255"(mRNA stabilization)|go:"GO:0051301"(cell division)|go:"GO:0051457"(maintenance of protein location in nucleus)|go:"GO:0055013"(cardiac muscle cell development)|go:"GO:0070034"(telomerase RNA binding)|go:"GO:0070934"(CRD-mediated mRNA stabilization)|go:"GO:0070937"(CRD-mediated mRNA stability complex)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:0071385"(cellular response to glucocorticoid stimulus)|go:"GO:0072686"(mitotic spindle)|go:"GO:0090336"(positive regulation of brown fat cell differentiation)|refseq:XP_016856604.1|refseq:XP_016856605.1|refseq:XP_016856606.1|dip:DIP-684N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:n73PY0Vis+D5Iq0q77h5Ck2V4789606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q00610 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354967|intact:EBI-28974011|ensembl:ENSP00000269122|uniprotkb:Q6N0A0|uniprotkb:Q86TF2|uniprotkb:D3DU00 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:clh1_human(display_long)|uniprotkb:Clathrin heavy chain on chromosome 17(gene name synonym)|uniprotkb:CLTC(gene name)|psi-mi:CLTC(display_short)|uniprotkb:CLH17(gene name synonym)|uniprotkb:KIAA0034(gene name synonym)|uniprotkb:CLTCL2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000141367(gene)|ensembl:ENST00000269122(transcript)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005819"(spindle)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0006914"(autophagy)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0050750"(low-density lipoprotein particle receptor binding)|go:"GO:0030118"(clathrin coat)|go:"GO:0030130"(clathrin coat of trans-Golgi network vesicle)|go:"GO:0051301"(cell division)|go:"GO:0060236"(regulation of mitotic spindle organization)|go:"GO:0030132"(clathrin coat of coated pit)|go:"GO:0030136"(clathrin-coated vesicle)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0070062"(extracellular exosome)|go:"GO:0031623"(receptor internalization)|go:"GO:0032051"(clathrin light chain binding)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033572"(transferrin transport)|go:"GO:0036020"(endolysosome membrane)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045334"(clathrin-coated endocytic vesicle)|go:"GO:0048268"(clathrin coat assembly)|refseq:NP_004850.1|ensembl:ENSP00000269122|ensembl:ENST00000393043|ensembl:ENSP00000376763|go:"GO:0071439"(clathrin complex)|go:"GO:0072583"(clathrin-dependent endocytosis)|go:"GO:0072686"(mitotic spindle)|go:"GO:0097718"(disordered domain specific binding)|go:"GO:0150093"(amyloid-beta clearance by transcytosis)|go:"GO:1900126"(negative regulation of hyaluronan biosynthetic process)|go:"GO:1903077"(negative regulation of protein localization to plasma membrane)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1990381"(ubiquitin-specific protease binding)|go:"GO:1990498"(mitotic spindle microtubule)|interpro:IPR000547(Clathrin, heavy chain/VPS, 7-fold repeat)|interpro:IPR011990(Tetratricopeptide-like helical)|interpro:IPR015348(Clathrin, heavy chain, linker, core motif)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR016025(Clathrin, heavy chain, linker and propeller)|interpro:IPR016341(Clathrin, heavy chain)|interpro:IPR022365|mint:Q00610|rcsb pdb:2XZG|rcsb pdb:4G55|rcsb pdb:6E4L|rcsb pdb:6QNN|rcsb pdb:6QNP|reactome:R-HSA-168275|reactome:R-HSA-177504|reactome:R-HSA-190873|reactome:R-HSA-196025|reactome:R-HSA-2132295|reactome:R-HSA-3928665|reactome:R-HSA-432720|reactome:R-HSA-432722|reactome:R-HSA-437239|reactome:R-HSA-5099900|reactome:R-HSA-5140745|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8866427|reactome:R-HSA-8964038|reactome:R-HSA-9013420|reactome:R-HSA-9013424 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:oGsLXL5J5MHO+ronpDIG9hJ11sU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P98175 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-721525|uniprotkb:Q14136|uniprotkb:C4AM81|uniprotkb:Q9BTE4|intact:EBI-1642096|intact:EBI-739959|uniprotkb:Q5JRR2|uniprotkb:Q9BTX0|uniprotkb:Q9NTB1|uniprotkb:A0A0A0MR66|ensembl:ENSP00000366829 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rbm10_human(display_long)|uniprotkb:RNA-binding motif protein 10(gene name synonym)|uniprotkb:G patch domain-containing protein 9(gene name synonym)|uniprotkb:RBM10(gene name)|psi-mi:RBM10(display_short)|uniprotkb:KIAA0122(gene name synonym)|uniprotkb:DXS8237E(gene name synonym)|uniprotkb:GPATC9(gene name synonym)|uniprotkb:GPATCH9(gene name synonym)|uniprotkb:RNA-binding protein S1-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001191395.1|refseq:NP_001191396.1|refseq:NP_005667.2|refseq:NP_690595.1|refseq:NP_001191397.1|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR033095|interpro:IPR034992|interpro:IPR035618|interpro:IPR035979|interpro:IPR036443|interpro:IPR041591|mint:P98175|rcsb pdb:2LXI|rcsb pdb:2M2B|rcsb pdb:2MXV|rcsb pdb:2MXW|rcsb pdb:5ZSW|rcsb pdb:5ZSY|ensembl:ENSG00000182872(gene)|ensembl:ENST00000377604(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016607"(nuclear speck)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034393"(positive regulation of smooth muscle cell apoptotic process)|go:"GO:0035198"(miRNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0048025"(negative regulation of mRNA splicing, via spliceosome)|go:"GO:0070935"(3'-UTR-mediated mRNA stabilization)|interpro:IPR000467(D111/G-patch)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR001876(Zinc finger, RanBP2-type)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LOhPGCjbvCh2MDG5JRHlrMrElW49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P84090 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-711389|uniprotkb:P70659|uniprotkb:Q14259|ensembl:ENSP00000451080|uniprotkb:B2R5H2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:erh_human(display_long)|uniprotkb:ERH(gene name)|psi-mi:ERH(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000100632(gene)|ensembl:ENST00000557016(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006139"(nucleobase-containing compound metabolic process)|go:"GO:0006213"(pyrimidine nucleoside metabolic process)|go:"GO:0007049"(cell cycle)|go:"GO:0008327"(methyl-CpG binding)|go:"GO:0030496"(midbody)|go:"GO:0034709"(methylosome)|interpro:IPR000781(Enhancer of rudimentary)|interpro:IPR035912|mint:P84090|rcsb pdb:1W9G|rcsb pdb:2NML|rcsb pdb:7CNC|refseq:NP_004441.1|dip:DIP-42473N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:foMOmvZ9wQyH0rrzBB2YlQhrT0g9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P83111 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2878119|ensembl:ENSP00000261893|uniprotkb:P83096 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lactb_human(display_long)|uniprotkb:LACTB(gene name)|psi-mi:LACTB(display_short)|uniprotkb:MRPL56(gene name synonym)|uniprotkb:UNQ843/PRO1781(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000103642(gene)|ensembl:ENST00000261893(transcript)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|go:"GO:0006508"(proteolysis)|go:"GO:0006629"(lipid metabolic process)|go:"GO:0008233"(peptidase activity)|go:"GO:0019216"(regulation of lipid metabolic process)|go:"GO:0042802"(identical protein binding)|interpro:IPR001466(Beta-lactamase)|interpro:IPR012338(Beta-lactamase-type transpeptidase fold)|refseq:NP_116246.2|refseq:NP_741982.1|refseq:NP_001275514.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:idqlmN9YYs76X8+d8+4LALz5WjM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68431 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-79722|ensembl:ENSP00000352252|ensembl:ENSP00000358160|ensembl:ENSP00000366999|ensembl:ENSP00000480826|ensembl:ENSP00000482271|ensembl:ENSP00000483283|ensembl:ENSP00000484095|ensembl:ENSP00000484638|ensembl:ENSP00000484658|ensembl:ENSP00000484841|ensembl:ENSP00000489282|intact:EBI-1560041|uniprotkb:A0PJT7|uniprotkb:P02295|uniprotkb:P02296|uniprotkb:P16106|uniprotkb:Q6ISV8|uniprotkb:Q6NWP8|uniprotkb:Q6NWP9|uniprotkb:Q6NXU4|uniprotkb:Q71DJ3|uniprotkb:Q93081|uniprotkb:A5PLR1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h31_human(display_long)|uniprotkb:H3FA(gene name synonym)|uniprotkb:H3FL(gene name synonym)|uniprotkb:H3FD(gene name synonym)|uniprotkb:H3FI(gene name synonym)|uniprotkb:H3FH(gene name synonym)|uniprotkb:H3FK(gene name synonym)|uniprotkb:H3FF(gene name synonym)|uniprotkb:H3FJ(gene name synonym)|uniprotkb:H3FB(gene name synonym)|uniprotkb:Histone H3/a(gene name synonym)|uniprotkb:Histone H3/b(gene name synonym)|uniprotkb:Histone H3/c(gene name synonym)|uniprotkb:Histone H3/d(gene name synonym)|uniprotkb:Histone H3/f(gene name synonym)|uniprotkb:Histone H3/h(gene name synonym)|uniprotkb:Histone H3/i(gene name synonym)|uniprotkb:Histone H3/j(gene name synonym)|uniprotkb:Histone H3/k(gene name synonym)|uniprotkb:Histone H3/l(gene name synonym)|uniprotkb:H3C1(gene name)|psi-mi:H3C1(display_short)|uniprotkb:HIST1H3A(gene name synonym)|uniprotkb:H3C2(gene name)|psi-mi:H3C2(display_short)|uniprotkb:HIST1H3B(gene name synonym)|uniprotkb:H3C3(gene name)|psi-mi:H3C3(display_short)|uniprotkb:H3FC HIST1H3C(gene name synonym)|uniprotkb:H3C4(gene name)|psi-mi:H3C4(display_short)|uniprotkb:HIST1H3D(gene name synonym)|uniprotkb:H3C6(gene name)|psi-mi:H3C6(display_short)|uniprotkb:HIST1H3E(gene name synonym)|uniprotkb:H3C7(gene name)|psi-mi:H3C7(display_short)|uniprotkb:HIST1H3F(gene name synonym)|uniprotkb:H3C8(gene name)|psi-mi:H3C8(display_short)|uniprotkb:HIST1H3G(gene name synonym)|uniprotkb:H3C10(gene name)|psi-mi:H3C10(display_short)|uniprotkb:HIST1H3H(gene name synonym)|uniprotkb:H3C11(gene name)|psi-mi:H3C11(display_short)|uniprotkb:HIST1H3I(gene name synonym)|uniprotkb:H3C12(gene name)|psi-mi:H3C12(display_short)|uniprotkb:HIST1H3J(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:4TN7|rcsb pdb:4U68|rcsb pdb:4UP0|rcsb pdb:4UY4|rcsb pdb:4X3K|rcsb pdb:4Y6L|rcsb pdb:4YHP|rcsb pdb:4YHZ|rcsb pdb:4YM5|rcsb pdb:4YM6|rcsb pdb:4Z0R|rcsb pdb:4Z2M|rcsb pdb:5AV5|rcsb pdb:5AV6|rcsb pdb:5AV8|rcsb pdb:5AV9|rcsb pdb:4QBS|rcsb pdb:5AVB|rcsb pdb:5AVC|rcsb pdb:5B24|rcsb pdb:5B2I|rcsb pdb:5B31|rcsb pdb:5C11|rcsb pdb:5C13|rcsb pdb:5C3I|rcsb pdb:5CPI|rcsb pdb:5CPJ|rcsb pdb:5CPK|rcsb pdb:5D6Y|rcsb pdb:5DAH|rcsb pdb:5FB0|rcsb pdb:5FB1|rcsb pdb:5FFV|rcsb pdb:5GH9|rcsb pdb:5GSE|rcsb pdb:5GSU|rcsb pdb:5GT0|rcsb pdb:5GT3|rcsb pdb:5GTC|rcsb pdb:5H6Q|rcsb pdb:5H6R|rcsb pdb:5HJB|rcsb pdb:5HJC|rcsb pdb:5HJD|rcsb pdb:5HYN|rcsb pdb:5IQL|rcsb pdb:5J3V|rcsb pdb:5J9S|rcsb pdb:5JHN|rcsb pdb:5JIN|rcsb pdb:5JIY|rcsb pdb:5JJ0|rcsb pdb:5B2J|rcsb pdb:5JRG|rcsb pdb:5KJH|rcsb pdb:5KJI|rcsb pdb:5KKL|rcsb pdb:5LUG|rcsb pdb:5M5G|rcsb pdb:5MR8|rcsb pdb:5NNC|rcsb pdb:5OY3|rcsb pdb:5SVX|rcsb pdb:5SVY|rcsb pdb:5SZB|rcsb pdb:5SZC|rcsb pdb:5T0K|rcsb pdb:5T0M|rcsb pdb:5T1G|rcsb pdb:5T1I|rcsb pdb:5T8R|rcsb pdb:5TBN|rcsb pdb:5TDR|rcsb pdb:5TDW|rcsb pdb:5U2J|rcsb pdb:5V21|rcsb pdb:5V22|rcsb pdb:5VA6|rcsb pdb:5VAB|rcsb pdb:5VGE|rcsb pdb:5VNB|rcsb pdb:5NND|rcsb pdb:5WLE|rcsb pdb:5WVO|rcsb pdb:5WXG|rcsb pdb:5WXH|rcsb pdb:5WYI|rcsb pdb:5X60|rcsb pdb:5XF3|rcsb pdb:5XF4|rcsb pdb:5XF5|rcsb pdb:5XFQ|rcsb pdb:5XFR|rcsb pdb:5XNV|rcsb pdb:5XTZ|rcsb pdb:5Y0C|rcsb pdb:5Y0D|rcsb pdb:5Y20|rcsb pdb:5Y2F|rcsb pdb:5Z23|rcsb pdb:5Z30|rcsb pdb:6AXJ|rcsb pdb:6AZE|rcsb pdb:6BHD|rcsb pdb:6BHE|rcsb pdb:6BHG|rcsb pdb:6BHH|rcsb pdb:6BHI|rcsb pdb:6D07|rcsb pdb:6D08|rcsb pdb:6E83|rcsb pdb:6E86|rcsb pdb:5WFC|rcsb pdb:6F6D|rcsb pdb:6HTS|rcsb pdb:6IEU|rcsb pdb:6IIS|rcsb pdb:6IIT|rcsb pdb:6IPU|rcsb pdb:6IQ4|rcsb pdb:6JOU|rcsb pdb:6JR0|rcsb pdb:6JR1|rcsb pdb:6JXD|rcsb pdb:6K1I|rcsb pdb:6K1J|rcsb pdb:6K1K|rcsb pdb:6KE9|rcsb pdb:6KVD|rcsb pdb:6L49|rcsb pdb:6L4A|rcsb pdb:6L9H|rcsb pdb:6L9Z|rcsb pdb:6LA2|rcsb pdb:6LA8|rcsb pdb:6LA9|rcsb pdb:6LAB|rcsb pdb:6LE9|rcsb pdb:6LER|rcsb pdb:6LS6|rcsb pdb:6LSD|rcsb pdb:6M3V|rcsb pdb:6M44|rcsb pdb:6M4D|rcsb pdb:6M4G|rcsb pdb:6M4H|rcsb pdb:6MIL|rcsb pdb:6MIM|rcsb pdb:6MIN|rcsb pdb:6MIO|rcsb pdb:6MIQ|rcsb pdb:6PA1|rcsb pdb:6PAG|rcsb pdb:6HKT|rcsb pdb:6R8Y|rcsb pdb:6R8Z|rcsb pdb:6R90|rcsb pdb:6R91|rcsb pdb:6R93|rcsb pdb:6R94|rcsb pdb:6T90|rcsb pdb:6T93|rcsb pdb:6UPK|rcsb pdb:6UPL|rcsb pdb:6USJ|rcsb pdb:6V2H|rcsb pdb:6V2K|rcsb pdb:6V3N|rcsb pdb:6V41|rcsb pdb:6V92|rcsb pdb:6VIL|rcsb pdb:6WAV|rcsb pdb:6WW4|rcsb pdb:6YIF|rcsb pdb:6YIH|rcsb pdb:6YOV|rcsb pdb:7BWD|rcsb pdb:7C0M|rcsb pdb:7CCQ|rcsb pdb:6R92|rcsb pdb:7CCR|rcsb pdb:7D1Z|rcsb pdb:7DBP|rcsb pdb:7K5X|rcsb pdb:7K5Y|rcsb pdb:7K60|rcsb pdb:7K61|rcsb pdb:7K63|rcsb pdb:7KLR|rcsb pdb:7LYC|reactome:R-HSA-1266695|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-3214815|reactome:R-HSA-3214841|reactome:R-HSA-3214842|reactome:R-HSA-3214847|reactome:R-HSA-3214858|ensembl:ENSG00000197153(gene)|ensembl:ENSG00000197409(gene)|ensembl:ENSG00000273983(gene)|ensembl:ENSG00000274750(gene)|ensembl:ENSG00000275379(gene)|ensembl:ENSG00000275714(gene)|ensembl:ENSG00000277775(gene)|ensembl:ENSG00000278828(gene)|ensembl:ENSG00000286522(gene)|ensembl:ENSG00000287080(gene)|ensembl:ENST00000356476(transcript)|ensembl:ENST00000359303(transcript)|ensembl:ENST00000369163(transcript)|ensembl:ENST00000612966(transcript)|ensembl:ENST00000613854(transcript)|ensembl:ENST00000614378(transcript)|ensembl:ENST00000614911(transcript)|ensembl:ENST00000616365(transcript)|ensembl:ENST00000618052(transcript)|ensembl:ENST00000621411(transcript)|ensembl:ENST00000634733(transcript)|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9609690|reactome:R-HSA-9610379|reactome:R-HSA-9616222|reactome:R-HSA-3247509|reactome:R-HSA-9710421|go:"GO:0032200"(telomere organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0000228"(nuclear chromosome)|go:"GO:0045296"(cadherin binding)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0060968"(obsolete regulation of gene silencing)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000164(Histone H3)|interpro:IPR007125(Histone core)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|interpro:IPR009072(Histone-fold)|mint:P68431|rcsb pdb:1CS9|rcsb pdb:1CT6|rcsb pdb:1O9S|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|rcsb pdb:1Q3L|go:"GO:0005654"(nucleoplasm)|go:"GO:0006334"(nucleosome assembly)|rcsb pdb:2B2T|go:"GO:0006335"(DNA replication-dependent chromatin assembly)|rcsb pdb:2B2U|rcsb pdb:2B2V|rcsb pdb:2B2W|rcsb pdb:2C1J|rcsb pdb:2C1N|go:"GO:0016020"(membrane)|rcsb pdb:2CO0|rcsb pdb:2CV5|rcsb pdb:2FSA|rcsb pdb:2KWJ|rcsb pdb:2KWK|rcsb pdb:2L75|rcsb pdb:2LBM|rcsb pdb:2LGG|rcsb pdb:2M0O|reactome:R-HSA-983231|reactome:R-HSA-977225|rcsb pdb:2NDG|rcsb pdb:2OQ6|rcsb pdb:2OT7|rcsb pdb:2OX0|rcsb pdb:2RI7|rcsb pdb:2RR4|rcsb pdb:2UXN|rcsb pdb:2V85|rcsb pdb:2V89|rcsb pdb:2VNF|rcsb pdb:2VPG|rcsb pdb:2X0L|rcsb pdb:3A1B|rcsb pdb:2NDF|rcsb pdb:3AFA|rcsb pdb:3AVR|rcsb pdb:3AYW|rcsb pdb:3AZE|rcsb pdb:3AZF|rcsb pdb:3AZG|rcsb pdb:3AZH|rcsb pdb:3AZI|rcsb pdb:3AZJ|rcsb pdb:3AZL|rcsb pdb:3AZM|rcsb pdb:3AZN|rcsb pdb:3B95|rcsb pdb:3FDT|rcsb pdb:3KMT|rcsb pdb:3KQI|rcsb pdb:3LQI|rcsb pdb:3LQJ|rcsb pdb:3MP1|rcsb pdb:3O34|rcsb pdb:3O35|rcsb pdb:3O37|rcsb pdb:3QJ6|rcsb pdb:3RIG|rcsb pdb:3RIY|rcsb pdb:3SOU|rcsb pdb:3SOW|rcsb pdb:3U31|rcsb pdb:3U3D|rcsb pdb:3U4S|rcsb pdb:3U5N|rcsb pdb:3U5O|rcsb pdb:3AZK|rcsb pdb:3U5P|rcsb pdb:3UEE|rcsb pdb:3UEF|rcsb pdb:3UII|rcsb pdb:3UIK|rcsb pdb:3V43|rcsb pdb:3W96|rcsb pdb:3W97|rcsb pdb:3W98|rcsb pdb:3W99|rcsb pdb:3WA9|rcsb pdb:3WAA|rcsb pdb:3WKJ|rcsb pdb:3X1S|rcsb pdb:3X1T|rcsb pdb:3X1U|rcsb pdb:3X1V|rcsb pdb:3ZG6|rcsb pdb:3ZVY|rcsb pdb:4A0J|rcsb pdb:4A0N|rcsb pdb:4A7J|rcsb pdb:3UIG|rcsb pdb:4BD3|rcsb pdb:4C1Q|rcsb pdb:4F4U|rcsb pdb:4F56|rcsb pdb:4FWF|rcsb pdb:4HON|rcsb pdb:4I51|rcsb pdb:4L7X|rcsb pdb:4LK9|rcsb pdb:4LKA|rcsb pdb:4LLB|rcsb pdb:4LXL|rcsb pdb:4N4H|rcsb pdb:4QBQ|rcsb pdb:4QBR|refseq:NP_003520.1|refseq:NP_003521.2|refseq:NP_003522.1|refseq:NP_003523.1|refseq:NP_003524.1|refseq:NP_003525.1|refseq:NP_003526.1|refseq:NP_003527.1|refseq:NP_003528.1|refseq:NP_066298.1|dip:DIP-29371N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ood0OohxZHuhsWZtO7U7GMc+LwM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68371 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351356|uniprotkb:P05217|uniprotkb:A2BFA2|ensembl:ENSP00000341289 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb4b_human(display_long)|uniprotkb:TUBB4B(gene name)|psi-mi:TUBB4B(display_short)|uniprotkb:TUBB2C(gene name synonym)|uniprotkb:Tubulin beta-2 chain(gene name synonym)|uniprotkb:Tubulin beta-2C chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006079.1|ensembl:ENSG00000188229(gene)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005874"(microtubule)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0042267"(natural killer cell mediated cytotoxicity)|go:"GO:0042288"(MHC class I protein binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903561"(extracellular vesicle)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|go:"GO:0005200"(structural constituent of cytoskeleton)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P68371|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-2565942|reactome:R-HSA-3371497|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620912|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6798695|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8854518|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|ensembl:ENST00000340384(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0003725"(double-stranded RNA binding) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4LwMs7E7eILMjB9Z/1bstAp22CY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68366 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351772|uniprotkb:A8MUB1|uniprotkb:P05215|ensembl:ENSP00000248437|uniprotkb:B3KNQ6|intact:EBI-11134566 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tba4a_human(display_long)|uniprotkb:TUBA4A(gene name)|psi-mi:TUBA4A(display_short)|uniprotkb:Tubulin alpha-1 chain(gene name synonym)|uniprotkb:Alpha-tubulin 1(gene name synonym)|uniprotkb:Testis-specific alpha-tubulin(gene name synonym)|uniprotkb:Tubulin H2-alpha(gene name synonym)|uniprotkb:TUBA1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005991.1|ensembl:ENSG00000127824(gene)|ensembl:ENST00000248437(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005874"(microtubule)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0019901"(protein kinase binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002452(Alpha tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P68366|reactome:R-HSA-114608|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-2565942|reactome:R-HSA-3371497|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620912|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8854518|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|refseq:NP_001265481.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6Oj9O8u7E6cLUJ1eT6y5slbk7uQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68363 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-487083|intact:EBI-1384226|uniprotkb:P04687|uniprotkb:P05209|uniprotkb:Q27I68|ensembl:ENSP00000336799|uniprotkb:Q8WU19 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tba1b_human(display_long)|uniprotkb:TUBA1B(gene name)|psi-mi:TUBA1B(display_short)|uniprotkb:Tubulin alpha-ubiquitous chain(gene name synonym)|uniprotkb:Alpha-tubulin ubiquitous(gene name synonym)|uniprotkb:Tubulin K-alpha-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006073.2|ensembl:ENSG00000123416(gene)|ensembl:ENST00000336023(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0005881"(cytoplasmic microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0030705"(cytoskeleton-dependent intracellular transport)|go:"GO:0031625"(ubiquitin protein ligase binding)|reactome:R-HSA-983189|go:"GO:0071353"(cellular response to interleukin-4)|interpro:IPR000217(Tubulin)|go:"GO:0045121"(membrane raft)|interpro:IPR002452(Alpha tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P68363|rcsb pdb:2E4H|rcsb pdb:5IJ0|rcsb pdb:5IJ9|rcsb pdb:5N5N|rcsb pdb:6E7B|rcsb pdb:6E7C|rcsb pdb:6I2I|go:"GO:0051301"(cell division)|rcsb pdb:6J4V|rcsb pdb:6J8O|rcsb pdb:6QUS|rcsb pdb:6QUY|rcsb pdb:6QVE|rcsb pdb:6QVJ|rcsb pdb:6S8L|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|reactome:R-HSA-9013407|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-2132295|reactome:R-HSA-9668328 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:D4YpuLCXl/S+53qV7P7sF81aARY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68032 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352273|uniprotkb:P04270|ensembl:ENSP00000290378 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actc_human(display_long)|uniprotkb:ACTC1(gene name)|psi-mi:ACTC1(display_short)|uniprotkb:ACTC(gene name synonym)|uniprotkb:Alpha-cardiac actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005150.1|ensembl:ENSG00000159251(gene)|ensembl:ENST00000290378(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005869"(dynactin complex)|go:"GO:0005884"(actin filament)|go:"GO:0005925"(focal adhesion)|go:"GO:0007015"(actin filament organization)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0017022"(myosin binding)|go:"GO:0030017"(sarcomere)|go:"GO:0030027"(lamellipodium)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030175"(filopodium)|go:"GO:0030240"(skeletal muscle thin filament assembly)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0031674"(I band)|go:"GO:0033275"(actin-myosin filament sliding)|go:"GO:0042493"|go:"GO:0044297"(cell body)|go:"GO:0045471"(response to ethanol)|go:"GO:0055003"(cardiac myofibril assembly)|go:"GO:0055008"(cardiac muscle tissue morphogenesis)|go:"GO:0060047"(heart contraction)|go:"GO:0060048"(cardiac muscle contraction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:0090131"(mesenchyme migration)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:P68032|reactome:R-HSA-390522|reactome:R-HSA-8980692|reactome:R-HSA-9013026 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:U/lKYqWUWMSC3fBHFaAcgzfk+3w9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P67936 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1642100|uniprotkb:P07226|uniprotkb:Q15659|uniprotkb:Q9BU85|uniprotkb:Q9H8Q3|uniprotkb:Q5U0D9|uniprotkb:Q9UCS1|uniprotkb:Q9UCS2|uniprotkb:Q9UCS3|uniprotkb:Q9UCS4|ensembl:ENSP00000495347 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tpm4_human(display_long)|uniprotkb:TPM4(gene name)|psi-mi:TPM4(display_short)|uniprotkb:Tropomyosin-4(gene name synonym)|uniprotkb:TM30p1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001138632.1|refseq:NP_003281.1|ensembl:ENSG00000167460(gene)|ensembl:ENST00000643579(transcript)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0001725"(stress fiber)|go:"GO:0002102"(podosome)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005862"(muscle thin filament tropomyosin)|go:"GO:0005884"(actin filament)|go:"GO:0005925"(focal adhesion)|go:"GO:0006936"(muscle contraction)|go:"GO:0007015"(actin filament organization)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0016020"(membrane)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000533(Tropomyosin)|interpro:IPR014751(DNA double-strand break repair and VJ recombination XRCC4, C-terminal)|mint:P67936|reactome:R-HSA-390522|reactome:R-HSA-445355|reactome:R-HSA-9013424 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:o8bLltMHW3vvC7Tp6YpiC0M6lkw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P63244 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-296739|ensembl:ENSP00000426909|uniprotkb:P25388|uniprotkb:P99049|intact:EBI-923003|uniprotkb:B3KTJ0|uniprotkb:Q53HU2|uniprotkb:Q5J8M6|uniprotkb:Q5VLR4|uniprotkb:Q6FH47|intact:EBI-2559282|uniprotkb:D3DWS0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rack1_human(display_long)|uniprotkb:Small ribosomal subunit protein RACK1(gene name synonym)|uniprotkb:HLC7(orf name)|uniprotkb:PIG21(orf name)|uniprotkb:RACK1(gene name)|psi-mi:RACK1(display_short)|uniprotkb:Cell proliferation-inducing gene 21 protein(gene name synonym)|uniprotkb:GNB2L1(gene name synonym)|uniprotkb:Guanine nucleotide-binding protein subunit beta-2-like 1(gene name synonym)|uniprotkb:Guanine nucleotide-binding protein subunit beta-like protein 12.3(gene name synonym)|uniprotkb:Human lung cancer oncogene 7 protein(gene name synonym)|uniprotkb:Receptor for activated C kinase(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:4AOW|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|mint:P63244|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|ensembl:ENSG00000204628(gene)|ensembl:ENST00000512805(transcript)|go:"GO:0001891"(phagocytic cup)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|go:"GO:0006919"(activation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0007049"(cell cycle)|go:"GO:0007369"(gastrulation)|go:"GO:0008200"(ion channel inhibitor activity)|go:"GO:0008656"(cysteine-type endopeptidase activator activity involved in apoptotic process)|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-5357905|reactome:R-HSA-5357956|reactome:R-HSA-5626978|rcsb pdb:6ZUO|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0019899"(enzyme binding)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0030178"(negative regulation of Wnt signaling pathway)|go:"GO:0030292"(protein tyrosine kinase inhibitor activity)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0030332"(cyclin binding)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030425"(dendrite)|go:"GO:0030496"(midbody)|go:"GO:0030971"(receptor tyrosine kinase binding)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032436"(positive regulation of proteasomal ubiquitin-dependent protein catabolic process)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0033137"(negative regulation of peptidyl-serine phosphorylation)|go:"GO:0035591"(signaling adaptor activity)|go:"GO:0042169"(SH2 domain binding)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043022"(ribosome binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0042998"(positive regulation of Golgi to plasma membrane protein transport)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043204"(perikaryon)|go:"GO:0043473"(pigmentation)|go:"GO:0043547"(positive regulation of GTPase activity)|go:"GO:0045296"(cadherin binding)|go:"GO:0045879"(negative regulation of smoothened signaling pathway)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048511"(rhythmic process)|go:"GO:0050765"(negative regulation of phagocytosis)|go:"GO:0051302"(regulation of cell division)|go:"GO:0051343"(positive regulation of cyclic-nucleotide phosphodiesterase activity)|go:"GO:0051434"(BH3 domain binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0051898"(negative regulation of protein kinase B signaling)|go:"GO:0051901"(positive regulation of mitochondrial depolarization)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071333"(cellular response to glucose stimulus)|go:"GO:0071363"(cellular response to growth factor stimulus)|go:"GO:0072344"(rescue of stalled ribosome)|go:"GO:1900102"(negative regulation of endoplasmic reticulum unfolded protein response)|go:"GO:1903208"(negative regulation of hydrogen peroxide-induced neuron death)|go:"GO:1990630"(IRE1-RACK1-PP2A complex)|go:"GO:2000114"(regulation of establishment of cell polarity)|go:"GO:2000543"(positive regulation of gastrulation)|go:"GO:2001244"(positive regulation of intrinsic apoptotic signaling pathway)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR020472|interpro:IPR036322|go:"GO:0060090"(molecular adaptor activity)|refseq:NP_006089.1|dip:DIP-46736N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LXHlhPtxUzHJNncoPteGw2iXsFg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P63010 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-432924|uniprotkb:A6NJP3|uniprotkb:P21851|uniprotkb:Q96J19|intact:EBI-28970775|ensembl:ENSP00000482315|intact:EBI-8011909|intact:MINT-8395045|uniprotkb:Q7Z451 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ap2b1_human(display_long)|uniprotkb:AP2B1(gene name)|psi-mi:AP2B1(display_short)|uniprotkb:CLAPB1(gene name synonym)|uniprotkb:Beta-2-adaptin(gene name synonym)|uniprotkb:Beta-adaptin(gene name synonym)|uniprotkb:Plasma membrane adaptor HA2/AP2 adaptin beta subunit(gene name synonym)|uniprotkb:Clathrin assembly protein complex 2 beta large chain(gene name synonym)|uniprotkb:AP105B(gene name synonym)|uniprotkb:Adaptor protein complex AP-2 subunit beta(gene name synonym)|uniprotkb:ADTB2(gene name synonym)|uniprotkb:Adaptor-related protein complex 2 subunit beta(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001025177.1|refseq:NP_001273.1|ensembl:ENST00000610402|ensembl:ENSP00000483185|ensembl:ENST00000618940|ensembl:ENSP00000482835|ensembl:ENSP00000482315|go:"GO:0005048"(signal sequence binding)|go:"GO:0005829"(cytosol)|go:"GO:0098793"(presynapse)|go:"GO:0098794"(postsynapse)|go:"GO:0098884"(postsynaptic neurotransmitter receptor internalization)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1901215"(negative regulation of neuron death)|go:"GO:1905477"(positive regulation of protein localization to membrane)|interpro:IPR000225(Armadillo)|ensembl:ENSG00000006125(gene)|ensembl:ENST00000621914(transcript)|go:"GO:0001822"(kidney development)|go:"GO:0003281"(ventricular septum development)|refseq:XP_011522757.1|go:"GO:0072583"(clathrin-dependent endocytosis)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0030122"(AP-2 adaptor complex)|go:"GO:0030131"(clathrin adaptor complex)|go:"GO:0030276"(clathrin binding)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0035904"(aorta development)|go:"GO:0036020"(endolysosome membrane)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045334"(clathrin-coated endocytic vesicle)|go:"GO:0045807"(positive regulation of endocytosis)|go:"GO:0048268"(clathrin coat assembly)|go:"GO:0048488"(synaptic vesicle endocytosis)|go:"GO:0060976"(coronary vasculature development)|go:"GO:0005886"(plasma membrane)|refseq:XP_005257994.1|refseq:XP_005257995.1|refseq:XP_016879773.1|refseq:XP_016879775.1|reactome:R-HSA-416993|reactome:R-HSA-437239|reactome:R-HSA-5099900|reactome:R-HSA-5140745|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8866427|reactome:R-HSA-8964038|reactome:R-HSA-9679191|interpro:IPR002553(Clathrin/coatomer adaptor, adaptin-like, N-terminal)|interpro:IPR008152(Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain)|interpro:IPR009028(Clathrin/coatomer adaptor, adaptin-like, appendage, C-terminal subdomain)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR012295(Beta2-adaptin/TATA-box binding, C-terminal)|interpro:IPR013037(Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain)|interpro:IPR013041(Clathrin/coatomer adaptor, adaptin-like, appendage, Ig-like subdomain)|interpro:IPR015151(Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR016342(Adaptor protein complex, beta subunit)|interpro:IPR026739|rcsb pdb:1E42|rcsb pdb:2G30|rcsb pdb:2IV8|rcsb pdb:2IV9|rcsb pdb:2JKR|rcsb pdb:2JKT|rcsb pdb:2VGL|rcsb pdb:2XA7|rcsb pdb:4UQI|rcsb pdb:5M5R|rcsb pdb:6QH5|rcsb pdb:6QH6|rcsb pdb:6QH7|rcsb pdb:6URI|rcsb pdb:6YAE|rcsb pdb:6YAF|rcsb pdb:6YAH|rcsb pdb:6YAI|reactome:R-HSA-167590|reactome:R-HSA-177504|reactome:R-HSA-182218|reactome:R-HSA-2132295|reactome:R-HSA-3928665|dip:DIP-33098N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Q5oFhdE1hcmqu7xLG3MteCu0Zcg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62995 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-725485|uniprotkb:O15449|uniprotkb:Q15815|uniprotkb:Q64283|uniprotkb:B4DVK2|uniprotkb:D3DNU3|ensembl:ENSP00000416959 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tra2b_human(display_long)|uniprotkb:TRA2B(gene name)|psi-mi:TRA2B(display_short)|uniprotkb:SFRS10(gene name synonym)|uniprotkb:Transformer-2 protein homolog B(gene name synonym)|uniprotkb:Splicing factor, arginine/serine-rich 10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004584.1|refseq:XP_005247760.1|refseq:NP_001230808.1|refseq:XP_011511374.1|ensembl:ENSG00000136527(gene)|ensembl:ENST00000453386(transcript)|go:"GO:0000302"(response to reactive oxygen species)|go:"GO:0000375"(RNA splicing, via transesterification reactions)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005637"(nuclear inner membrane)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0021796"(cerebral cortex regionalization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0036002"(pre-mRNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0043484"(regulation of RNA splicing)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0071333"(cellular response to glucose stimulus)|go:"GO:1990403"(embryonic brain development)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979|mint:P62995|rcsb pdb:2CQC|rcsb pdb:2KXN|rcsb pdb:2RRA|rcsb pdb:2RRB|reactome:R-HSA-72163|reactome:R-HSA-9013418|reactome:R-HSA-9013422|refseq:XP_016862522.1|dip:DIP-42278N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6uZGeHEDlIVsb2uPeo+9NoR4tDw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62906 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356860|uniprotkb:P52859|uniprotkb:P53025|uniprotkb:Q5TZT6|uniprotkb:Q8J013|uniprotkb:B2R801|ensembl:ENSP00000363018 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl10a_human(display_long)|uniprotkb:RPL10A(gene name)|psi-mi:RPL10A(display_short)|uniprotkb:NEDD6(gene name synonym)|uniprotkb:CSA-19(gene name synonym)|uniprotkb:Neural precursor cell expressed developmentally down-regulated protein 6(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_009035.3|ensembl:ENSG00000198755(gene)|ensembl:ENST00000322203(transcript)|go:"GO:0000470"(maturation of LSU-rRNA)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045471"(response to ethanol)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002143(Ribosomal protein L1)|interpro:IPR016095(Ribosomal protein L1, 3-layer alpha/beta-sandwich)|interpro:IPR023673|interpro:IPR023674|interpro:IPR028364|mint:P62906|rcsb pdb:4UG0|rcsb pdb:4V6X|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LU8|rcsb pdb:6OLG|rcsb pdb:6QZP|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:wrXKX6vzZ3ovXP3yUoL1/r+NGiw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62899 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1053664|intact:EBI-3867511|uniprotkb:B7Z4K2|uniprotkb:P12947|uniprotkb:Q53SQ5|uniprotkb:Q6LBJ6|uniprotkb:D3DVJ4|uniprotkb:Q6IRZ0|ensembl:ENSP00000264258|ensembl:ENSP00000386681 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl31_human(display_long)|uniprotkb:RPL31(gene name)|psi-mi:RPL31(display_short)|uniprotkb:Large ribosomal subunit protein eL31(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000984.1|refseq:NP_001092047.1|refseq:NP_001093163.1|ensembl:ENSG00000071082(gene)|ensembl:ENST00000264258(transcript)|ensembl:ENST00000409733(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000054(Ribosomal protein L31e)|interpro:IPR020052|interpro:IPR023621|mint:P62899|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:77LFR7/2somk6blVogZf1XFdJLk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62873 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357130|ensembl:ENSP00000367872|ensembl:ENSP00000481878|uniprotkb:P04901|uniprotkb:P04697|uniprotkb:B1AJZ7|uniprotkb:Q1RMY8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gbb1_human(display_long)|uniprotkb:GNB1(gene name)|psi-mi:GNB1(display_short)|uniprotkb:Transducin beta chain 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR001632(G-protein, beta subunit)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR016346(Guanine nucleotide-binding protein, beta subunit)|interpro:IPR019775|interpro:IPR020472|interpro:IPR036322|mint:P62873|rcsb pdb:4KFM|rcsb pdb:4PNK|rcsb pdb:5HE0|rcsb pdb:5HE1|rcsb pdb:5HE2|rcsb pdb:5HE3|rcsb pdb:5UKK|rcsb pdb:5UKL|rcsb pdb:5UKM|rcsb pdb:5UZ7|rcsb pdb:6B3J|rcsb pdb:6CRK|rcsb pdb:6D9H|rcsb pdb:6DDE|rcsb pdb:6DDF|rcsb pdb:6E3Y|rcsb pdb:6EG8|rcsb pdb:6G79|rcsb pdb:6GDG|rcsb pdb:6KPF|rcsb pdb:6KPG|go:"GO:1903561"(extracellular vesicle)|rcsb pdb:6LFM|rcsb pdb:6LFO|rcsb pdb:6LI3|rcsb pdb:6LMK|rcsb pdb:6LML|rcsb pdb:6M1H|rcsb pdb:6M1I|rcsb pdb:6M8S|rcsb pdb:6N4B|rcsb pdb:6NI3|rcsb pdb:6NIY|rcsb pdb:6OIJ|rcsb pdb:6OIK|rcsb pdb:6OMM|rcsb pdb:6ORV|rcsb pdb:6OS9|rcsb pdb:6OSA|rcsb pdb:6OT0|rcsb pdb:6P9X|rcsb pdb:6P9Y|rcsb pdb:6PB0|rcsb pdb:6PB1|rcsb pdb:6PT0|rcsb pdb:6UUN|rcsb pdb:6UUS|rcsb pdb:6UVA|rcsb pdb:6VCB|rcsb pdb:6VMS|rcsb pdb:6VN7|rcsb pdb:6WHA|rcsb pdb:6WHC|rcsb pdb:6WI9|rcsb pdb:6WPW|rcsb pdb:6WZG|rcsb pdb:6X18|rcsb pdb:6X19|rcsb pdb:6X1A|rcsb pdb:6XBJ|rcsb pdb:6XBK|rcsb pdb:6XBL|rcsb pdb:6XBM|rcsb pdb:6XOX|rcsb pdb:7AUE|rcsb pdb:7BB6|rcsb pdb:7BB7|rcsb pdb:7C2E|rcsb pdb:7CFM|rcsb pdb:7CFN|rcsb pdb:7CKW|rcsb pdb:7CKX|rcsb pdb:7CKY|rcsb pdb:7CKZ|rcsb pdb:7CMU|rcsb pdb:7CMV|rcsb pdb:7CRH|rcsb pdb:7CX2|rcsb pdb:7CX4|rcsb pdb:7D76|rcsb pdb:7D77|rcsb pdb:7D7M|rcsb pdb:7DFL|rcsb pdb:7E2X|rcsb pdb:7E2Y|rcsb pdb:7E2Z|rcsb pdb:7E32|rcsb pdb:7E33|rcsb pdb:7E9G|rcsb pdb:7E9H|rcsb pdb:7CX3|rcsb pdb:7EB2|rcsb pdb:7JOZ|rcsb pdb:7JV5|rcsb pdb:7JVP|rcsb pdb:7JVQ|rcsb pdb:7JVR|rcsb pdb:7K7L|rcsb pdb:7K7Z|rcsb pdb:7KH0|rcsb pdb:7L0P|rcsb pdb:7L0Q|rcsb pdb:7L0R|rcsb pdb:7L0S|rcsb pdb:7L1U|rcsb pdb:7L1V|rcsb pdb:7LCI|reactome:R-HSA-1296041|reactome:R-HSA-163359|reactome:R-HSA-202040|reactome:R-HSA-2485179|reactome:R-HSA-2514859|reactome:R-HSA-381676|reactome:R-HSA-381753|reactome:R-HSA-392170|reactome:R-HSA-392451|reactome:R-HSA-392851|reactome:R-HSA-400042|reactome:R-HSA-4086398|reactome:R-HSA-416476|reactome:R-HSA-416482|reactome:R-HSA-418217|reactome:R-HSA-418555|reactome:R-HSA-418592|reactome:R-HSA-418594|reactome:R-HSA-418597|reactome:R-HSA-420092|reactome:R-HSA-428930|reactome:R-HSA-432040|reactome:R-HSA-456926|reactome:R-HSA-500657|reactome:R-HSA-6814122|reactome:R-HSA-8964315|reactome:R-HSA-8964616|reactome:R-HSA-9009391|reactome:R-HSA-9660821|reactome:R-HSA-997272|ensembl:ENST00000610897(transcript)|go:"GO:0001917"(photoreceptor inner segment)|go:"GO:0003924"(GTPase activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005834"(heterotrimeric G-protein complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0007165"(signal transduction)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007191"(adenylate cyclase-activating dopamine receptor signaling pathway)|go:"GO:0007200"(phospholipase C-activating G protein-coupled receptor signaling pathway)|go:"GO:0007204"(positive regulation of cytosolic calcium ion concentration)|go:"GO:0007213"(G protein-coupled acetylcholine receptor signaling pathway)|go:"GO:0007265"(Ras protein signal transduction)|go:"GO:0008283"(cell population proliferation)|go:"GO:0010659"(cardiac muscle cell apoptotic process)|go:"GO:0016020"(membrane)|go:"GO:0030425"(dendrite)|go:"GO:0030507"(spectrin binding)|go:"GO:0031682"(G-protein gamma-subunit binding)|go:"GO:0042622"(photoreceptor outer segment membrane)|go:"GO:0044297"(cell body)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045202"(synapse)|go:"GO:0047391"(alkylglycerophosphoethanolamine phosphodiesterase activity)|go:"GO:0050909"(sensory perception of taste)|go:"GO:0051020"(GTPase binding)|go:"GO:0060041"(retina development in camera-type eye)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071380"(cellular response to prostaglandin E stimulus)|go:"GO:0071456"(cellular response to hypoxia)|go:"GO:0071870"(cellular response to catecholamine stimulus)|go:"GO:0097381"(photoreceptor disc membrane)|ensembl:ENSG00000078369(gene)|ensembl:ENST00000378609(transcript)|refseq:NP_001269467.1|refseq:NP_001269468.1|dip:DIP-599N|refseq:NP_002065.1|refseq:XP_016856548.1|refseq:XP_016856549.1|refseq:XP_016856550.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:zP/G70MXiSQpzbyyWFTWrJFQENk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62857 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353027|ensembl:ENSP00000472469|uniprotkb:P25112 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs28_human(display_long)|uniprotkb:RPS28(gene name)|psi-mi:RPS28(display_short)|uniprotkb:Small ribosomal subunit protein eS28(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 mint:P62857|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|ensembl:ENSG00000233927(gene)|ensembl:ENST00000600659(transcript)|go:"GO:0000028"(ribosomal small subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030490"(maturation of SSU-rRNA)|go:"GO:0042254"(ribosome biogenesis)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098556"(cytoplasmic side of rough endoplasmic reticulum membrane)|interpro:IPR000289(Ribosomal protein S28e)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR028626|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZM7|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_001022.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:G4t8mOlzIiHEOXu+uS+AfySWAnM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62854 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353438|uniprotkb:P02383|uniprotkb:Q3MHD8|uniprotkb:P70394|uniprotkb:Q06722|uniprotkb:Q6IRY4|ensembl:ENSP00000348849|ensembl:ENSP00000450339|ensembl:ENSP00000496643 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs26_human(display_long)|uniprotkb:RPS26(gene name)|psi-mi:RPS26(display_short)|uniprotkb:Small ribosomal subunit protein eS26(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001020.2|refseq:XP_005276741.1|rcsb pdb:6OLG|rcsb pdb:6OLF|ensembl:ENST00000356464(transcript)|ensembl:ENST00000552361(transcript)|ensembl:ENST00000646449(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0033119"(negative regulation of RNA splicing)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045296"(cadherin binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098556"(cytoplasmic side of rough endoplasmic reticulum membrane)|interpro:IPR000892(Ribosomal protein S26e)|interpro:IPR038551|mint:P62854|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6G5H|ensembl:ENSG00000197728(gene)|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-156827 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:bo2ruYMNjjLCMo/kwAWzmlJrrjU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62851 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353054|ensembl:ENSP00000435096|ensembl:ENSP00000486392|uniprotkb:P25111|uniprotkb:B2R4M7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs25_human(display_long)|uniprotkb:RPS25(gene name)|psi-mi:RPS25(display_short)|uniprotkb:Small ribosomal subunit protein eS25(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000118181(gene)|ensembl:ENSG00000280831(gene)|ensembl:ENST00000527673(transcript)|ensembl:ENST00000628770(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0070062"(extracellular exosome)|interpro:IPR004977(Ribosomal protein S25)|interpro:IPR036388|mint:P62851|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y0G|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|rcsb pdb:6ZXD|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|rcsb pdb:6ZXE|reactome:R-HSA-9010553|reactome:R-HSA-9633012|rcsb pdb:6ZXF|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|refseq:NP_001019.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7TqA4Q6+6VMzrzaUrACbwtJKfOM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62829 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353303|uniprotkb:P23131|uniprotkb:Q3SWV7|uniprotkb:P24048|uniprotkb:Q29246|uniprotkb:Q6P5S1|ensembl:ENSP00000377865|ensembl:ENSP00000420311 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl23_human(display_long)|uniprotkb:RPL23(gene name)|psi-mi:RPL23(display_short)|uniprotkb:60S ribosomal protein L17(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL14(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|reactome:R-HSA-9010553|rcsb pdb:6ZMI|rcsb pdb:6ZMO|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|refseq:NP_000969.1|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032986"(protein-DNA complex disassembly)|go:"GO:0032991"(protein-containing complex)|go:"GO:0050821"(protein stabilization)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070180"(large ribosomal subunit rRNA binding)|go:"GO:0072717"(cellular response to actinomycin D)|go:"GO:1901798"(positive regulation of signal transduction by p53 class mediator)|go:"GO:1904667"(negative regulation of ubiquitin protein ligase activity)|go:"GO:1990948"(ubiquitin ligase inhibitor activity)|go:"GO:2000059"(negative regulation of ubiquitin-dependent protein catabolic process)|interpro:IPR000218(Ribosomal protein L14b/L23e)|interpro:IPR019972|interpro:IPR036853|mint:P62829|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|ensembl:ENSG00000125691(gene)|ensembl:ENST00000394332(transcript)|ensembl:ENST00000479035(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001223"(transcription coactivator binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0006610"(ribosomal protein import into nucleus)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0005730"(nucleolus)|dip:DIP-33156N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:TiSVU2W4+lkwf12eb4+vG6IFlZA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62805 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-302023|ensembl:ENSP00000244537|ensembl:ENSP00000347168|ensembl:ENSP00000350767|ensembl:ENSP00000366974|ensembl:ENSP00000366956|ensembl:ENSP00000462667|ensembl:ENSP00000367034|ensembl:ENSP00000478519|ensembl:ENSP00000478786|ensembl:ENSP00000443017|ensembl:ENSP00000462355|ensembl:ENSP00000479106|ensembl:ENSP00000479461|uniprotkb:A2VCL0|uniprotkb:P02304|uniprotkb:P02305|uniprotkb:Q6DRA9|uniprotkb:Q6FGB8|uniprotkb:Q6NWP7|ensembl:ENSP00000479794|ensembl:ENSP00000480960|ensembl:ENSP00000481343|ensembl:ENSP00000481486|ensembl:ENSP00000481507|ensembl:ENSP00000482412|ensembl:ENSP00000484789|ensembl:ENSP00000489319|ensembl:ENSP00000489567 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h4_human(display_long)|uniprotkb:H4-16(gene name)|psi-mi:H4-16(display_short)|uniprotkb:H4C1(gene name)|psi-mi:H4C1(display_short)|uniprotkb:H4C11(gene name)|psi-mi:H4C11(display_short)|uniprotkb:H4C12(gene name)|psi-mi:H4C12(display_short)|uniprotkb:H4C13(gene name)|psi-mi:H4C13(display_short)|uniprotkb:H4C14(gene name)|psi-mi:H4C14(display_short)|uniprotkb:H4C15(gene name)|psi-mi:H4C15(display_short)|uniprotkb:H4C2(gene name)|psi-mi:H4C2(display_short)|uniprotkb:H4C3(gene name)|psi-mi:H4C3(display_short)|uniprotkb:H4C4(gene name)|psi-mi:H4C4(display_short)|uniprotkb:H4C5(gene name)|psi-mi:H4C5(display_short)|uniprotkb:H4C6(gene name)|psi-mi:H4C6(display_short)|uniprotkb:H4C8(gene name)|psi-mi:H4C8(display_short)|uniprotkb:H4C9(gene name)|psi-mi:H4C9(display_short)|uniprotkb:H4/A(gene name synonym)|uniprotkb:H4/B(gene name synonym)|uniprotkb:H4/C(gene name synonym)|uniprotkb:H4/D(gene name synonym)|uniprotkb:H4/E(gene name synonym)|uniprotkb:H4/G(gene name synonym)|uniprotkb:H4/H(gene name synonym)|uniprotkb:H4/I(gene name synonym)|uniprotkb:H4/J(gene name synonym)|uniprotkb:H4/K(gene name synonym)|uniprotkb:H4/M(gene name synonym)|uniprotkb:H4/N(gene name synonym)|uniprotkb:H4/O(gene name synonym)|uniprotkb:H4F2(gene name synonym)|uniprotkb:H4FA(gene name synonym)|uniprotkb:H4FB(gene name synonym)|uniprotkb:H4FC(gene name synonym)|uniprotkb:H4FD(gene name synonym)|uniprotkb:H4FE(gene name synonym)|uniprotkb:H4FG(gene name synonym)|uniprotkb:H4FH(gene name synonym)|uniprotkb:H4FI(gene name synonym)|uniprotkb:H4FJ(gene name synonym)|uniprotkb:H4FK(gene name synonym)|uniprotkb:H4FM(gene name synonym)|uniprotkb:H4FN(gene name synonym)|uniprotkb:H4FO(gene name synonym)|uniprotkb:HIST1H4A(gene name synonym)|uniprotkb:HIST1H4B(gene name synonym)|uniprotkb:HIST1H4C(gene name synonym)|uniprotkb:HIST1H4D(gene name synonym)|uniprotkb:HIST1H4E(gene name synonym)|uniprotkb:HIST1H4F(gene name synonym)|uniprotkb:HIST1H4H(gene name synonym)|uniprotkb:HIST1H4I(gene name synonym)|uniprotkb:HIST1H4J(gene name synonym)|uniprotkb:HIST1H4K(gene name synonym)|uniprotkb:HIST1H4L(gene name synonym)|uniprotkb:HIST2H4(gene name synonym)|uniprotkb:HIST2H4A(gene name synonym)|uniprotkb:HIST2H4B(gene name synonym)|uniprotkb:HIST4H4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000197061(gene)|ensembl:ENSG00000276180(gene)|ensembl:ENSG00000197238(gene)|ensembl:ENSG00000276966(gene)|ensembl:ENSG00000277157(gene)|ensembl:ENSG00000270276(gene)|ensembl:ENSG00000197837(gene)|ensembl:ENSG00000270882(gene)|ensembl:ENSG00000278637(gene)|ensembl:ENSG00000273542(gene)|ensembl:ENSG00000274618(gene)|ensembl:ENSG00000278705(gene)|ensembl:ENSG00000275126(gene)|ensembl:ENSG00000158406(gene)|dip:DIP-33079N|ensembl:ENST00000244537(transcript)|ensembl:ENST00000355057(transcript)|ensembl:ENST00000358064(transcript)|ensembl:ENST00000377727(transcript)|ensembl:ENST00000377745(transcript)|ensembl:ENST00000377803(transcript)|ensembl:ENST00000539745(transcript)|ensembl:ENST00000578186(transcript)|ensembl:ENST00000579512(transcript)|ensembl:ENST00000611927(transcript)|ensembl:ENST00000612061(transcript)|ensembl:ENST00000613412(transcript)|ensembl:ENST00000614247(transcript)|ensembl:ENST00000614272(transcript)|ensembl:ENST00000615164(transcript)|ensembl:ENST00000615353(transcript)|ensembl:ENST00000617569(transcript)|ensembl:ENST00000618193(transcript)|ensembl:ENST00000618305(transcript)|ensembl:ENST00000621520(transcript)|ensembl:ENST00000634560(transcript)|ensembl:ENST00000634956(transcript)|go:"GO:0000228"(nuclear chromosome)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0006335"(DNA replication-dependent chromatin assembly)|go:"GO:0006336"(DNA replication-independent chromatin assembly)|go:"GO:0006352"(DNA-templated transcription, initiation)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0032200"(telomere organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0045653"(negative regulation of megakaryocyte differentiation)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0005576"(extracellular region)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001951(Histone H4)|interpro:IPR004823("TATA box binding protein associated factor (TAF)")|rcsb pdb:3AZE|rcsb pdb:3AZF|rcsb pdb:3AZG|rcsb pdb:3AZH|rcsb pdb:3AZI|rcsb pdb:3AYW|rcsb pdb:3AZJ|rcsb pdb:3AZK|rcsb pdb:3AZL|rcsb pdb:3AZM|rcsb pdb:3AZN|rcsb pdb:3CFS|rcsb pdb:3CFV|rcsb pdb:3F9W|rcsb pdb:3F9X|rcsb pdb:3F9Y|rcsb pdb:3F9Z|rcsb pdb:3IJ1|rcsb pdb:3JPX|rcsb pdb:3NQJ|rcsb pdb:3NQU|rcsb pdb:3O36|rcsb pdb:3QBY|rcsb pdb:3QZS|rcsb pdb:3QZT|rcsb pdb:3QZV|rcsb pdb:3R45|rcsb pdb:3UVW|rcsb pdb:3UVX|rcsb pdb:3UVY|rcsb pdb:3UW9|rcsb pdb:3W96|rcsb pdb:3W97|rcsb pdb:3W98|rcsb pdb:3W99|rcsb pdb:3WA9|rcsb pdb:3WAA|rcsb pdb:3WKJ|rcsb pdb:3WTP|rcsb pdb:3X1S|rcsb pdb:3X1T|rcsb pdb:3X1U|rcsb pdb:3X1V|rcsb pdb:4GQB|rcsb pdb:4H9N|rcsb pdb:4H9O|rcsb pdb:4H9P|rcsb pdb:4H9Q|rcsb pdb:4H9R|rcsb pdb:4H9S|rcsb pdb:4HGA|rcsb pdb:4M38|rcsb pdb:4N3W|rcsb pdb:4N4F|rcsb pdb:4QUT|rcsb pdb:4QUU|rcsb pdb:4QYD|rcsb pdb:4U9W|rcsb pdb:4YM5|rcsb pdb:4YM6|rcsb pdb:4YY6|rcsb pdb:4YYD|rcsb pdb:4YYG|rcsb pdb:4YYH|rcsb pdb:4YYI|rcsb pdb:4YYJ|rcsb pdb:4YYK|rcsb pdb:4YYM|rcsb pdb:4YYN|rcsb pdb:4Z2M|rcsb pdb:4Z5T|rcsb pdb:5AV5|rcsb pdb:5AV6|rcsb pdb:5AV8|rcsb pdb:5AV9|rcsb pdb:5AVB|rcsb pdb:5AVC|rcsb pdb:5AY8|rcsb pdb:5B0Y|rcsb pdb:5B0Z|rcsb pdb:5B24|rcsb pdb:5B2I|rcsb pdb:5B2J|rcsb pdb:5B31|rcsb pdb:5B32|rcsb pdb:5B33|rcsb pdb:5B40|rcsb pdb:5BNV|rcsb pdb:5BNX|rcsb pdb:5BO0|rcsb pdb:5C3I|rcsb pdb:5CPI|interpro:IPR019809|interpro:IPR035425|mint:P62805|rcsb pdb:1ZKK|rcsb pdb:2BQZ|rcsb pdb:2CV5|rcsb pdb:2IG0|rcsb pdb:2KWN|rcsb pdb:2KWO|rcsb pdb:2LVM|rcsb pdb:2QQS|rcsb pdb:2RJE|rcsb pdb:2RNY|interpro:IPR009072(Histone-fold)|rcsb pdb:2RS9|rcsb pdb:3A6N|rcsb pdb:3AFA|rcsb pdb:3AN2|rcsb pdb:3AV1|rcsb pdb:3AV2|rcsb pdb:5GT3|rcsb pdb:5GTC|rcsb pdb:5GXQ|rcsb pdb:5JA4|rcsb pdb:5JRG|rcsb pdb:5KDM|rcsb pdb:5TEG|rcsb pdb:5X7X|rcsb pdb:5XF3|rcsb pdb:5XF4|rcsb pdb:5XF5|rcsb pdb:5Y0C|rcsb pdb:5Y0D|rcsb pdb:5YE3|rcsb pdb:5YE4|rcsb pdb:5Z23|rcsb pdb:5Z30|rcsb pdb:5ZBX|rcsb pdb:5ZGC|rcsb pdb:5CPJ|rcsb pdb:6A5L|rcsb pdb:6A5O|rcsb pdb:5CPK|rcsb pdb:6A5P|rcsb pdb:5FA5|rcsb pdb:6A5R|rcsb pdb:6A5T|rcsb pdb:6A5U|rcsb pdb:6ACP|rcsb pdb:6BUZ|rcsb pdb:6C0W|rcsb pdb:6E0C|rcsb pdb:6E0P|rcsb pdb:6FML|rcsb pdb:6HKT|rcsb pdb:6HTS|rcsb pdb:6INQ|rcsb pdb:6IR9|rcsb pdb:6J4W|rcsb pdb:6J4X|rcsb pdb:6J4Y|rcsb pdb:6J4Z|rcsb pdb:6J50|rcsb pdb:6J51|rcsb pdb:6JOU|rcsb pdb:6JR0|rcsb pdb:6JR1|rcsb pdb:6K1I|rcsb pdb:6K1J|rcsb pdb:6K1K|rcsb pdb:6KE9|rcsb pdb:6KVD|rcsb pdb:6KXV|rcsb pdb:6L49|rcsb pdb:6L4A|rcsb pdb:6L9H|rcsb pdb:6L9Z|rcsb pdb:6LA2|rcsb pdb:6LA8|rcsb pdb:6LA9|rcsb pdb:6LAB|rcsb pdb:6LE9|rcsb pdb:6LER|rcsb pdb:6M3V|rcsb pdb:6M44|rcsb pdb:6M4D|rcsb pdb:5FFW|rcsb pdb:5FWE|rcsb pdb:5GSE|rcsb pdb:5GSU|rcsb pdb:5GT0|rcsb pdb:6M4G|rcsb pdb:6M4H|rcsb pdb:6MLC|rcsb pdb:6MUO|rcsb pdb:6MUP|rcsb pdb:6O1D|rcsb pdb:6R0C|rcsb pdb:6R8Y|rcsb pdb:6R8Z|rcsb pdb:6R90|rcsb pdb:6R91|refseq:NP_001029249.1|refseq:NP_003486.1|refseq:NP_003529.1|refseq:NP_003530.1|refseq:NP_003531.1|refseq:NP_003532.1|refseq:NP_003533.1|refseq:NP_003534.1|refseq:NP_003535.1|refseq:NP_003536.1|refseq:NP_003537.1|refseq:NP_003539.1|rcsb pdb:6R92|rcsb pdb:6R93|rcsb pdb:6R94|rcsb pdb:6RNY|rcsb pdb:6RXS|rcsb pdb:6SE0|rcsb pdb:6SE6|rcsb pdb:6SEE|rcsb pdb:6SEF|rcsb pdb:6SEG|rcsb pdb:6T79|rcsb pdb:6T7A|rcsb pdb:6T7B|rcsb pdb:6T7C|rcsb pdb:6T7D|rcsb pdb:6T90|rcsb pdb:6T93|rcsb pdb:6UPK|rcsb pdb:6UPL|rcsb pdb:6USJ|rcsb pdb:6V2K|rcsb pdb:6V92|rcsb pdb:6VO5|rcsb pdb:6X59|rcsb pdb:6X5A|rcsb pdb:6XJD|rcsb pdb:6Y5D|rcsb pdb:6YOV|rcsb pdb:7A08|rcsb pdb:7BWD|rcsb pdb:7BXT|rcsb pdb:7BY0|rcsb pdb:7C0M|rcsb pdb:7CCQ|rcsb pdb:7CCR|rcsb pdb:7CIZ|rcsb pdb:7CJ0|rcsb pdb:7D1Z|rcsb pdb:7D20|rcsb pdb:7DBP|rcsb pdb:7JO9|rcsb pdb:7JOA|rcsb pdb:7JZV|rcsb pdb:7K5X|rcsb pdb:7K5Y|rcsb pdb:7K60|rcsb pdb:7K61|rcsb pdb:7K63|rcsb pdb:7LMK|rcsb pdb:7LMM|rcsb pdb:7LYC|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214815|reactome:R-HSA-3214841|reactome:R-HSA-3214842|reactome:R-HSA-3214847|reactome:R-HSA-3214858|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-4551638|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-5693565|refseq:NP_068803.1|refseq:NP_778224.1|reactome:R-HSA-5693571|reactome:R-HSA-5693607|reactome:R-HSA-606279|reactome:R-HSA-69473|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9609690|reactome:R-HSA-9610379|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-977225 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LZSfhrpw0PcDREEoJ1UMkBvnUfA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62753 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356625|uniprotkb:P08227|uniprotkb:P10660|uniprotkb:Q4VBY7|uniprotkb:Q8N6Z7|ensembl:ENSP00000369757 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs6_human(display_long)|uniprotkb:RPS6(gene name)|psi-mi:RPS6(display_short)|uniprotkb:Phosphoprotein NP33(gene name synonym)|uniprotkb:Small ribosomal subunit protein eS6(gene name synonym)|uniprotkb:OK/SW-cl.2(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001001.2|reactome:R-HSA-166208|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|interpro:IPR014401(Ribosomal protein S6, eukaryotic)|interpro:IPR018282|mint:P62753|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6F4P|rcsb pdb:6F4Q|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|ensembl:ENSG00000137154(gene)|ensembl:ENST00000380394(transcript)|go:"GO:0000082"(G1/S transition of mitotic cell cycle)|go:"GO:0001890"(placenta development)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0002309"(T cell proliferation involved in immune response)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0006924"(activation-induced cell death of T cells)|go:"GO:0007369"(gastrulation)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022605"(mammalian oogenesis stage)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030425"(dendrite)|go:"GO:0031929"(TOR signaling)|go:"GO:0033077"(T cell differentiation in thymus)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042593"(glucose homeostasis)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0044297"(cell body)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048821"(erythrocyte development)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001377(Ribosomal protein S6e)|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|dip:DIP-31507N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:beDuXCIqL99V9JlVfpzx7MdpH689606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62701 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354303|uniprotkb:P12631|uniprotkb:P12750|uniprotkb:P27576|uniprotkb:Q14727|uniprotkb:P55831|uniprotkb:Q6IPY4|ensembl:ENSP00000362744 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs4x_human(display_long)|uniprotkb:RPS4X(gene name)|psi-mi:RPS4X(display_short)|uniprotkb:CCG2(gene name synonym)|uniprotkb:RPS4(gene name synonym)|uniprotkb:SCAR(gene name synonym)|uniprotkb:Single copy abundant mRNA protein(gene name synonym)|uniprotkb:SCR10(gene name synonym)|uniprotkb:Small ribosomal subunit protein eS4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000998.1|rcsb pdb:6OLI|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|ensembl:ENSG00000198034(gene)|ensembl:ENST00000316084(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005844"(polysome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0007275"(multicellular organism development)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0045202"(synapse)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000876(Ribosomal protein S4e)|interpro:IPR002942(RNA-binding S4)|interpro:IPR005824(KOW)|interpro:IPR013843(Ribosomal protein S4e, N-terminal)|interpro:IPR013845(Ribosomal protein S4e, central)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR018199|interpro:IPR032277|interpro:IPR036986|interpro:IPR038237|interpro:IPR041982|mint:P62701|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|go:"GO:0045727"(positive regulation of translation)|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2ZuLXqBSDkK0CtN3mnIDoFAR8yI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62424 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354172|uniprotkb:P11518|uniprotkb:Q5T8U4|ensembl:ENSP00000361076|ensembl:ENSP00000487443 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl7a_human(display_long)|uniprotkb:RPL7A(gene name)|psi-mi:RPL7A(display_short)|uniprotkb:SURF-3(gene name synonym)|uniprotkb:SURF3(gene name synonym)|uniprotkb:Surfeit locus protein 3(gene name synonym)|uniprotkb:PLA-X polypeptide(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL8(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000963.1|dip:DIP-31502N|ensembl:ENSG00000148303(gene)|ensembl:ENSG00000280858(gene)|ensembl:ENST00000323345(transcript)|ensembl:ENST00000630979(transcript)|go:"GO:0000470"(maturation of LSU-rRNA)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045296"(cadherin binding)|interpro:IPR001921(Ribosomal protein L7A)|interpro:IPR004037(Ribosomal protein L7Ae)|interpro:IPR004038(Ribosomal protein L7Ae/L30e/S12e/Gadd45)|interpro:IPR018492|interpro:IPR029064|mint:P62424|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|go:"GO:0005634"(nucleus)|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:shPtLmc+oabT/rSwho+tP1iJy4k9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62280 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1047710|uniprotkb:B2R4F5|uniprotkb:P04643|uniprotkb:Q498Y6|uniprotkb:Q6IRY0|ensembl:ENSP00000270625 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs11_human(display_long)|uniprotkb:RPS11(gene name)|psi-mi:RPS11(display_short)|uniprotkb:Small ribosomal subunit protein uS17(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001006.1|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000266(Ribosomal protein S17)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR019979|interpro:IPR028333|interpro:IPR032440|mint:P62280|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|go:"GO:0005840"(ribosome)|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|ensembl:ENSG00000142534(gene)|ensembl:ENST00000270625(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|rcsb pdb:6OM0|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0fqJjtWAuz31VTKt2mbteRoi8vA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62273 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1054121|uniprotkb:P30054|uniprotkb:A8MZ73|ensembl:ENSP00000245458|ensembl:ENSP00000495033 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs29_human(display_long)|uniprotkb:RPS29(gene name)|psi-mi:RPS29(display_short)|uniprotkb:Small ribosomal subunit protein uS14(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001023.1|refseq:NP_001025172.1|ensembl:ENSG00000213741(gene)|ensembl:ENST00000245458(transcript)|ensembl:ENST00000556230(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0008270"(zinc ion binding)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098556"(cytoplasmic side of rough endoplasmic reticulum membrane)|interpro:IPR001209(Ribosomal protein S14)|interpro:IPR018271|interpro:IPR039744|interpro:IPR043140|mint:P62273|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:vMgvFs6gwidbpv837yH2u0sSIAU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62266 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353072|ensembl:ENSP00000296674|ensembl:ENSP00000498621|uniprotkb:P39028|uniprotkb:Q6IB08 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs23_human(display_long)|uniprotkb:RPS23(gene name)|psi-mi:RPS23(display_short)|uniprotkb:Small ribosomal subunit protein uS12(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|ensembl:ENSG00000186468(gene)|ensembl:ENST00000296674(transcript)|ensembl:ENST00000651545(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0034063"(stress granule assembly)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045202"(synapse)|go:"GO:1990145"(maintenance of translational fidelity)|interpro:IPR005680(Ribosomal protein S23, eukaryotic/archaeal)|interpro:IPR006032(Ribosomal protein S12/S23)|rcsb pdb:5T2C|rcsb pdb:5VYC|interpro:IPR012340(Nucleic acid-binding, OB-fold)|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|mint:P62266|rcsb pdb:6G4W|rcsb pdb:4CXG|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:4CXH|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:4UG0|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|refseq:NP_001016.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:MWZPvSL/G45ocaxA5AXKCkDQxNU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62263 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352783|ensembl:ENSP00000311028|ensembl:ENSP00000385425|uniprotkb:P06366|uniprotkb:Q5BJI0|uniprotkb:B2R5G5|uniprotkb:D3DQG5|ensembl:ENSP00000385958|ensembl:ENSP00000428509 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs14_human(display_long)|uniprotkb:RPS14(gene name)|psi-mi:RPS14(display_short)|uniprotkb:Small ribosomal subunit protein uS11(gene name synonym)|uniprotkb:PRO2640(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000164587(gene)|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_001020242.1|refseq:NP_005608.1|refseq:NP_001020241.1|ensembl:ENST00000312037(transcript)|ensembl:ENST00000401695(transcript)|ensembl:ENST00000407193(transcript)|ensembl:ENST00000521466(transcript)|go:"GO:0000028"(ribosomal small subunit assembly)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000462"("maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0030490"(maturation of SSU-rRNA)|go:"GO:0045182"(translation regulator activity)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070181"(small ribosomal subunit rRNA binding)|interpro:IPR001971(Ribosomal protein S11)|interpro:IPR018102|interpro:IPR036967|mint:P62263|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZXD intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ee3bJ5JYFaZXyCCRG9Wooopyz2o9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62244 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-347895|ensembl:ENSP00000318646|ensembl:ENSP00000457000|ensembl:ENSP00000458115|ensembl:ENSP00000458528|uniprotkb:P39027|uniprotkb:P39031|uniprotkb:Q3MHD9|uniprotkb:Q8C023|uniprotkb:Q9BV24 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs15a_human(display_long)|uniprotkb:RPS15A(gene name)|psi-mi:RPS15A(display_short)|uniprotkb:Small ribosomal subunit protein uS8(gene name synonym)|uniprotkb:OK/SW-cl.82(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000134419(gene)|ensembl:ENST00000322989(transcript)|ensembl:ENST00000563390(transcript)|ensembl:ENST00000565420(transcript)|ensembl:ENST00000572008(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0009615"(response to virus)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0045787"(positive regulation of cell cycle)|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|go:"GO:0070062"(extracellular exosome)|rcsb pdb:6G4W|interpro:IPR000630(Ribosomal protein S8)|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|interpro:IPR035987|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|mint:P62244|rcsb pdb:4UG0|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:4V6X|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-72695|reactome:R-HSA-975957|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|rcsb pdb:6ZM7|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|refseq:NP_001010.2|refseq:NP_001025180.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Qdnhk7yvoFFYcRq5kEi7GQILaxs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62241 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351811|uniprotkb:Q6IRL7|uniprotkb:P09058|ensembl:ENSP00000379888 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs8_human(display_long)|uniprotkb:RPS8(gene name)|psi-mi:RPS8(display_short)|uniprotkb:Small ribosomal subunit protein eS8(gene name synonym)|uniprotkb:OK/SW-cl.83(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001003.1|ensembl:ENSG00000142937(gene)|ensembl:ENST00000396651(transcript)|go:"GO:0000462"("maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001047(Ribosomal protein S8e)|interpro:IPR018283|interpro:IPR022309|interpro:IPR042563|mint:P62241|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:6G5H|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975957|reactome:R-HSA-975956 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3rpCBdQyRWR+TCKnupbnCp30jKE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62140 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352350|uniprotkb:P37140|uniprotkb:Q5U087|uniprotkb:Q6FG45|uniprotkb:D6W565|uniprotkb:B2R5V4|ensembl:ENSP00000296122|ensembl:ENSP00000351298|ensembl:ENSP00000378769 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pp1b_human(display_long)|uniprotkb:PPP1CB(gene name)|psi-mi:PPP1CB(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002700.1|refseq:NP_996759.1|ensembl:ENSG00000213639(gene)|ensembl:ENST00000296122(transcript)|ensembl:ENST00000358506(transcript)|ensembl:ENST00000395366(transcript)|go:"GO:0000164"(protein phosphatase type 1 complex)|go:"GO:0000165"(MAPK cascade)|go:"GO:0004722"(protein serine/threonine phosphatase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0005977"(glycogen metabolic process)|go:"GO:0005979"(regulation of glycogen biosynthetic process)|go:"GO:0005981"(regulation of glycogen catabolic process)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007049"(cell cycle)|go:"GO:0016791"(phosphatase activity)|go:"GO:0017018"(myosin phosphatase activity)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030155"(regulation of cell adhesion)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0042587"(glycogen granule)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0043153"(entrainment of circadian clock by photoperiod)|go:"GO:0046872"(metal ion binding)|go:"GO:0050115"(myosin-light-chain-phosphatase activity)|go:"GO:0051301"(cell division)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|go:"GO:0106306"|go:"GO:0106307"|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR006186("Serine/threonine-specific protein phosphatase and bis(5-nucleosyl)-tetraphosphatase")|interpro:IPR029052|interpro:IPR031675|mint:P62140|reactome:R-HSA-163560|reactome:R-HSA-2173788|reactome:R-HSA-2565942|reactome:R-HSA-400253|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|reactome:R-HSA-5673000|reactome:R-HSA-9660537|dip:DIP-33220N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VtNJVyimeiEuRDDWtGswTqoSOH89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62136 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357253|uniprotkb:P08129|uniprotkb:P20653|uniprotkb:P22802|uniprotkb:B2R908|intact:EBI-2623163|uniprotkb:Q07161|intact:EBI-2556927|uniprotkb:A6NNR3|ensembl:ENSP00000365936 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pp1a_human(display_long)|uniprotkb:PPP1CA(gene name)|psi-mi:PPP1CA(display_short)|uniprotkb:PPP1A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001008709.1|refseq:NP_002699.1|refseq:NP_996756.1|dip:DIP-221N|dip:DIP-38195N|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0035970"(peptidyl-threonine dephosphorylation)|go:"GO:0036496"(regulation of translational initiation by eIF2 alpha dephosphorylation)|go:"GO:0042587"(glycogen granule)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0043153"(entrainment of circadian clock by photoperiod)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0046872"(metal ion binding)|go:"GO:0048754"(branching morphogenesis of an epithelial tube)|go:"GO:0051301"(cell division)|go:"GO:0060828"(regulation of canonical Wnt signaling pathway)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070262"(peptidyl-serine dephosphorylation)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0106306"|go:"GO:0106307"|go:"GO:1904886"(beta-catenin destruction complex disassembly)|go:"GO:2001241"(positive regulation of extrinsic apoptotic signaling pathway in absence of ligand)|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR006186("Serine/threonine-specific protein phosphatase and bis(5-nucleosyl)-tetraphosphatase")|interpro:IPR029052|interpro:IPR031675|interpro:IPR037979|mint:P62136|rcsb pdb:3E7A|rcsb pdb:3E7B|rcsb pdb:3EGG|rcsb pdb:3EGH|rcsb pdb:3HVQ|rcsb pdb:3N5U|rcsb pdb:3V4Y|rcsb pdb:4G9J|rcsb pdb:4MOV|rcsb pdb:4MOY|rcsb pdb:4MP0|rcsb pdb:4XPN|rcsb pdb:5IOH|rcsb pdb:6ALZ|rcsb pdb:6CZO|rcsb pdb:6DCX|rcsb pdb:6DNO|rcsb pdb:6G0I|rcsb pdb:6G0J|rcsb pdb:6GHM|rcsb pdb:6OBN|rcsb pdb:6OBP|rcsb pdb:6OBQ|rcsb pdb:6OBR|rcsb pdb:6OBS|rcsb pdb:6OBU|rcsb pdb:6ZEE|rcsb pdb:6ZEF|rcsb pdb:6ZEG|rcsb pdb:6ZEH|rcsb pdb:6ZEI|rcsb pdb:6ZEJ|rcsb pdb:6ZK6|reactome:R-HSA-163560|reactome:R-HSA-180024|reactome:R-HSA-2173788|reactome:R-HSA-400253|go:"GO:0098793"(presynapse)|ensembl:ENSG00000172531(gene)|ensembl:ENST00000376745(transcript)|go:"GO:0000164"(protein phosphatase type 1 complex)|go:"GO:0004721"(phosphoprotein phosphatase activity)|go:"GO:0004722"(protein serine/threonine phosphatase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005977"(glycogen metabolic process)|go:"GO:0005979"(regulation of glycogen biosynthetic process)|go:"GO:0005981"(regulation of glycogen catabolic process)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007049"(cell cycle)|go:"GO:0008157"(protein phosphatase 1 binding)|go:"GO:0010288"(response to lead ion)|go:"GO:0016311"(dephosphorylation)|go:"GO:0016791"(phosphatase activity)|go:"GO:0030324"(lung development) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IMypaKng+5AECbCd3N72pgzUlxQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62081 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354360|uniprotkb:Q6IPH1|uniprotkb:P23821|uniprotkb:P24818|uniprotkb:Q57Z92|ensembl:ENSP00000385018|ensembl:ENSP00000385286|ensembl:ENSP00000495273|ensembl:ENSP00000496654|ensembl:ENSP00000496757 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs7_human(display_long)|uniprotkb:RPS7(gene name)|psi-mi:RPS7(display_short)|uniprotkb:Small ribosomal subunit protein eS7(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001002.1|ensembl:ENSG00000171863(gene)|ensembl:ENST00000403564(transcript)|ensembl:ENST00000406376(transcript)|ensembl:ENST00000462576(transcript)|ensembl:ENST00000645674(transcript)|ensembl:ENST00000646909(transcript)|go:"GO:0001843"(neural tube closure)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030154"(cell differentiation)|go:"GO:0032040"(small-subunit processome)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0045202"(synapse)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0050821"(protein stabilization)|go:"GO:1902255"(positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator)|go:"GO:1904667"(negative regulation of ubiquitin protein ligase activity)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:1990948"(ubiquitin ligase inhibitor activity)|go:"GO:2000059"(negative regulation of ubiquitin-dependent protein catabolic process)|interpro:IPR000554(Ribosomal protein S7e)|mint:P62081|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6G4S intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:l4aG6I34lmzYhNapbdv2CAAwRwg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61981 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-359832|uniprotkb:O70457|uniprotkb:P35214|uniprotkb:Q6FH52|uniprotkb:Q9UDP2|uniprotkb:Q9UN99|ensembl:ENSP00000306330 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:1433g_human(display_long)|uniprotkb:YWHAG(gene name)|psi-mi:YWHAG(display_short)|uniprotkb:Protein kinase C inhibitor protein 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036611.2|ensembl:ENSG00000170027(gene)|ensembl:ENST00000307630(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005159"(insulin-like growth factor receptor binding)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006469"(negative regulation of protein kinase activity)|go:"GO:0006605"(protein targeting)|go:"GO:0008426"(protein kinase C inhibitor activity)|go:"GO:0009966"(regulation of signal transduction)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030971"(receptor tyrosine kinase binding)|go:"GO:0032869"(cellular response to insulin stimulus)|go:"GO:0042802"(identical protein binding)|go:"GO:0045664"(regulation of neuron differentiation)|go:"GO:0048167"(regulation of synaptic plasticity)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098793"(presynapse)|interpro:IPR000308(14-3-3 protein)|interpro:IPR023409|interpro:IPR023410|interpro:IPR036815|mint:P61981|rcsb pdb:2B05|rcsb pdb:3UZD|rcsb pdb:4E2E|rcsb pdb:4J6S|rcsb pdb:4O46|rcsb pdb:5D3E|rcsb pdb:6A5S|rcsb pdb:6BYJ|rcsb pdb:6BYL|rcsb pdb:6BZD|rcsb pdb:6FEL|rcsb pdb:6GKF|rcsb pdb:6GKG|rcsb pdb:6S9K|rcsb pdb:6SAD|rcsb pdb:6Y4K|rcsb pdb:6Y6B|reactome:R-HSA-111447|reactome:R-HSA-1445148|reactome:R-HSA-2565942|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-5620912|reactome:R-HSA-5625740|reactome:R-HSA-5628897|reactome:R-HSA-75035|reactome:R-HSA-8854518|reactome:R-HSA-9614399|dip:DIP-33406N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:u1cd71h0RPgTOEMrQVhOelsxWnM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61978 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-304185|intact:EBI-28971491|ensembl:ENSP00000317788|ensembl:ENSP00000353552|uniprotkb:Q07244|uniprotkb:Q15671|uniprotkb:Q59F98|uniprotkb:Q60577|uniprotkb:Q922Y7|uniprotkb:Q96J62|uniprotkb:Q5T6W4|intact:EBI-3440248|uniprotkb:Q6IBN1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hnrpk_human(display_long)|uniprotkb:HNRNPK(gene name)|psi-mi:HNRNPK(display_short)|uniprotkb:HNRPK(gene name synonym)|uniprotkb:Transformation up-regulated nuclear protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000165119(gene)|go:"GO:0010988"(regulation of low-density lipoprotein particle clearance)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0042802"(identical protein binding)|ensembl:ENST00000351839(transcript)|ensembl:ENST00000360384(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0000785"(chromatin)|go:"GO:0002102"(podosome)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005925"(focal adhesion)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006396"(RNA processing)|go:"GO:0007165"(signal transduction)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0042995"(cell projection)|go:"GO:0045296"(cadherin binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048024"(regulation of mRNA splicing, via spliceosome)|go:"GO:0048025"(negative regulation of mRNA splicing, via spliceosome)|go:"GO:0048260"(positive regulation of receptor-mediated endocytosis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1902165"(regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator)|go:"GO:1905599"(positive regulation of low-density lipoprotein receptor activity)|interpro:IPR004087(K Homology)|interpro:IPR004088(K Homology, type 1)|interpro:IPR012987(ROK, N-terminal)|interpro:IPR033090|interpro:IPR036612|mint:P61978|rcsb pdb:1J5K|rcsb pdb:1KHM|rcsb pdb:1ZZI|rcsb pdb:1ZZJ|go:"GO:0043066"(negative regulation of apoptotic process)|reactome:R-HSA-4570464|reactome:R-HSA-72163|reactome:R-HSA-72203|reactome:R-HSA-9610379|rcsb pdb:1ZZK|refseq:NP_002131.2|refseq:NP_112552.1|refseq:NP_112553.1|ensembl:ENSP00000317788|ensembl:ENSP00000353552|ensembl:ENST00000376263|ensembl:ENSP00000365439|ensembl:ENST00000376281|ensembl:ENSP00000365458|refseq:NP_001305115.1|refseq:NP_001305116.1|refseq:NP_001305117.1|refseq:XP_016870157.1|refseq:XP_005252017.1|refseq:XP_005252020.1|refseq:XP_005252022.1|dip:DIP-31805N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YZQD5JJkHPUMtZ4XUA9fQkNfXzc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61769 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-714718|uniprotkb:P01884|uniprotkb:Q9UDF4|uniprotkb:Q540F8|uniprotkb:Q6IAT8|uniprotkb:Q9UCK0|uniprotkb:Q9UD48|ensembl:ENSP00000453191|ensembl:ENSP00000453350|ensembl:ENSP00000481426|ensembl:ENSP00000488321|ensembl:ENSP00000488548|ensembl:ENSP00000497910 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b2mg_human(display_long)|uniprotkb:B2M(gene name)|psi-mi:B2M(display_short)|uniprotkb:CDABP0092(orf name)|uniprotkb:HDCMA22P(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:5KNM|rcsb pdb:5L2J|rcsb pdb:5L2K|rcsb pdb:5MEN|rcsb pdb:5MEO|rcsb pdb:5MEP|rcsb pdb:5MEQ|rcsb pdb:5MER|rcsb pdb:5N1Y|rcsb pdb:5N6B|rcsb pdb:5NHT|rcsb pdb:5NME|rcsb pdb:5NMF|rcsb pdb:5NMG|rcsb pdb:5NMH|rcsb pdb:5NMK|rcsb pdb:5NQ1|rcsb pdb:5NQ3|rcsb pdb:5NQK|rcsb pdb:5OPI|rcsb pdb:5SWQ|rcsb pdb:5T6W|rcsb pdb:5T6X|rcsb pdb:5T6Y|rcsb pdb:5T6Z|rcsb pdb:5T70|rcsb pdb:5TEZ|rcsb pdb:5HYJ|rcsb pdb:5IB1|rcsb pdb:5IB2|rcsb pdb:5IB3|rcsb pdb:5IB4|rcsb pdb:5IB5|rcsb pdb:5IEH|rcsb pdb:5IEK|rcsb pdb:5IM7|rcsb pdb:5TRZ|rcsb pdb:5TS1|rcsb pdb:5INC|rcsb pdb:5TXS|rcsb pdb:5IND|rcsb pdb:5IRO|rcsb pdb:5ISZ|rcsb pdb:5IUE|rcsb pdb:5J1A|rcsb pdb:5U16|rcsb pdb:5JHD|rcsb pdb:5JZI|rcsb pdb:5U17|rcsb pdb:5U1R|rcsb pdb:5U2V|rcsb pdb:5U6Q|rcsb pdb:5U72|rcsb pdb:5U98|rcsb pdb:5V5L|rcsb pdb:5V5M|rcsb pdb:5VGD|rcsb pdb:5VGE|rcsb pdb:5VUD|rcsb pdb:5VUE|rcsb pdb:5VUF|rcsb pdb:5VVP|rcsb pdb:5VWD|rcsb pdb:5VWF|rcsb pdb:5VWH|rcsb pdb:5VWJ|rcsb pdb:5VZ5|rcsb pdb:5W1V|rcsb pdb:5W1W|rcsb pdb:5W67|rcsb pdb:5W69|rcsb pdb:5W6A|rcsb pdb:5WER|rcsb pdb:5WHK|rcsb pdb:5WJL|rcsb pdb:5WJN|rcsb pdb:5WKE|rcsb pdb:5WKF|rcsb pdb:5WKG|rcsb pdb:5WKH|rcsb pdb:5WKI|rcsb pdb:5WL1|rcsb pdb:5WMN|rcsb pdb:5WMO|rcsb pdb:5WMP|rcsb pdb:5WMQ|rcsb pdb:5WMR|rcsb pdb:5WSH|rcsb pdb:5WWI|rcsb pdb:5WWJ|rcsb pdb:5WWU|rcsb pdb:5WXC|rcsb pdb:5WXD|rcsb pdb:5XOS|rcsb pdb:5XOT|rcsb pdb:5XOV|rcsb pdb:5YXN|rcsb pdb:5YXU|rcsb pdb:6AEE|rcsb pdb:6AM5|rcsb pdb:6AMT|rcsb pdb:6AMU|rcsb pdb:6APN|rcsb pdb:6AT5|rcsb pdb:6AT9|rcsb pdb:6AVF|rcsb pdb:6AVG|rcsb pdb:6BJ2|rcsb pdb:6BJ3|rcsb pdb:6BJ8|rcsb pdb:6BXP|rcsb pdb:6BXQ|rcsb pdb:6C09|rcsb pdb:6CUG|rcsb pdb:6D29|rcsb pdb:6C15|rcsb pdb:6C97|rcsb pdb:6D2B|rcsb pdb:6C98|rcsb pdb:6C99|rcsb pdb:6D2R|rcsb pdb:6D2T|rcsb pdb:6D64|rcsb pdb:6D78|rcsb pdb:6DKP|rcsb pdb:6EI2|rcsb pdb:6ENY|rcsb pdb:6EQA|rcsb pdb:6EQB|rcsb pdb:6EWA|rcsb pdb:6EWC|rcsb pdb:6EWO|rcsb pdb:6FGB|rcsb pdb:6G3J|rcsb pdb:6G3K|rcsb pdb:6GGM|rcsb pdb:6GH1|rcsb pdb:6GH4|rcsb pdb:6GHN|rcsb pdb:6GK3|rcsb pdb:6GL1|rcsb pdb:6ID4|rcsb pdb:6IEX|rcsb pdb:6ILM|rcsb pdb:6J1V|rcsb pdb:6J1W|rcsb pdb:6J29|rcsb pdb:6J2A|rcsb pdb:6J2E|rcsb pdb:6J2G|rcsb pdb:6J2H|rcsb pdb:6J2I|rcsb pdb:6J2J|rcsb pdb:6JOZ|rcsb pdb:6JP3|rcsb pdb:6JTN|rcsb pdb:6JTO|rcsb pdb:6JTP|rcsb pdb:6K60|rcsb pdb:6K7T|rcsb pdb:6LA6|rcsb pdb:6LA7|rcsb pdb:6M1B|rcsb pdb:6M24|rcsb pdb:6M2J|rcsb pdb:6M2K|rcsb pdb:6MPP|rcsb pdb:6MT3|rcsb pdb:6MT4|rcsb pdb:6MT5|rcsb pdb:6MT6|rcsb pdb:6MTL|rcsb pdb:6MTM|rcsb pdb:6MWR|rcsb pdb:6NCA|rcsb pdb:6NHA|rcsb pdb:6NPR|rcsb pdb:6NUX|rcsb pdb:6O4Y|rcsb pdb:6O4Z|rcsb pdb:6O51|rcsb pdb:6O53|rcsb pdb:6P2S|rcsb pdb:6P64|rcsb pdb:6PA1|rcsb pdb:6PAG|rcsb pdb:6O9B|rcsb pdb:6O9C|rcsb pdb:6PBH|rcsb pdb:6PTB|rcsb pdb:6OPD|rcsb pdb:6P23|rcsb pdb:6P27|rcsb pdb:6P2C|rcsb pdb:6PTE|rcsb pdb:6P2F|rcsb pdb:6PUC|rcsb pdb:6PUD|rcsb pdb:6PUE|rcsb pdb:6PUF|rcsb pdb:6PUG|rcsb pdb:6PUH|rcsb pdb:6PUI|rcsb pdb:6PUJ|rcsb pdb:6PUK|rcsb pdb:6PUL|rcsb pdb:6PUM|rcsb pdb:6PVC|rcsb pdb:6PVD|rcsb pdb:6PYJ|rcsb pdb:6PYL|rcsb pdb:6PYV|rcsb pdb:6PYW|rcsb pdb:6PZ5|rcsb pdb:6Q3K|rcsb pdb:6Q3S|rcsb pdb:6QIO|rcsb pdb:6QIP|rcsb pdb:6R2L|rcsb pdb:6RP9|rcsb pdb:6RPA|rcsb pdb:6RPB|rcsb pdb:6RSY|rcsb pdb:6SS7|rcsb pdb:6SS8|rcsb pdb:6SS9|rcsb pdb:6SSA|rcsb pdb:6TDO|rcsb pdb:6TDP|rcsb pdb:6TDQ|rcsb pdb:6TDR|rcsb pdb:6TDS|rcsb pdb:6TMO|rcsb pdb:6TRN|rcsb pdb:6TRO|rcsb pdb:6UJ7|rcsb pdb:6UJ8|rcsb pdb:6UJ9|rcsb pdb:6UJO|rcsb pdb:6UJQ|rcsb pdb:6UK2|rcsb pdb:6UK4|rcsb pdb:6ULI|rcsb pdb:6ULK|rcsb pdb:6ULN|rcsb pdb:6ULR|rcsb pdb:6UON|rcsb pdb:6UZ1|rcsb pdb:6UZM|rcsb pdb:6UZN|rcsb pdb:6UZO|rcsb pdb:6UZP|rcsb pdb:6UZQ|rcsb pdb:6UZS|rcsb pdb:6V2O|rcsb pdb:6V2P|rcsb pdb:6V2Q|rcsb pdb:6V3J|rcsb pdb:6V7Y|rcsb pdb:6V7Z|rcsb pdb:6V80|rcsb pdb:6VB0|rcsb pdb:6VB1|rcsb pdb:6VB2|rcsb pdb:6VB3|rcsb pdb:6VB5|rcsb pdb:6VB6|rcsb pdb:6VB7|rcsb pdb:6VIU|rcsb pdb:6VM7|rcsb pdb:6VM8|rcsb pdb:6VM9|rcsb pdb:6VB4|rcsb pdb:6VMA|rcsb pdb:6VMC|rcsb pdb:6VMX|rcsb pdb:6VPZ|rcsb pdb:6VQ2|rcsb pdb:6VQD|rcsb pdb:6VQE|rcsb pdb:6VQO|rcsb pdb:6VQY|rcsb pdb:6VQZ|rcsb pdb:6VR1|rcsb pdb:6VR5|rcsb pdb:6VRM|rcsb pdb:6VRN|rcsb pdb:6W51|rcsb pdb:6W9U|rcsb pdb:6W9V|rcsb pdb:6WZY|rcsb pdb:6X00|rcsb pdb:6XQA|rcsb pdb:6XQP|rcsb pdb:6Y26|rcsb pdb:6Y27|rcsb pdb:6Y28|rcsb pdb:6Y29|rcsb pdb:6Y2A|rcsb pdb:6Y2B|rcsb pdb:6Z9V|rcsb pdb:6Z9W|rcsb pdb:6Z9X|rcsb pdb:7AFV|rcsb pdb:7ALO|rcsb pdb:7C9V|rcsb pdb:7JYU|rcsb pdb:7JYV|rcsb pdb:7JYW|rcsb pdb:7JYX|rcsb pdb:7K80|rcsb pdb:7K81|rcsb pdb:7KGO|rcsb pdb:7KGP|rcsb pdb:7KGQ|rcsb pdb:7KGR|rcsb pdb:7KGS|rcsb pdb:7KGT|rcsb pdb:7KOZ|rcsb pdb:7KP0|rcsb pdb:7KP1|rcsb pdb:7LFZ|rcsb pdb:7LG0|rcsb pdb:7LG2|rcsb pdb:7LG3|rcsb pdb:7LGD|rcsb pdb:7LGT|rcsb pdb:7M8S|rcsb pdb:7M8T|rcsb pdb:7M8U|rcsb pdb:7MKB|rcsb pdb:7NUI|reactome:R-HSA-1236974|reactome:R-HSA-1236977|reactome:R-HSA-164940|reactome:R-HSA-198933|reactome:R-HSA-2172127|reactome:R-HSA-2424491|reactome:R-HSA-6798695|reactome:R-HSA-877300|reactome:R-HSA-9637628|reactome:R-HSA-977225|reactome:R-HSA-983170|ensembl:ENSG00000166710(gene)|ensembl:ENSG00000273686(gene)|ensembl:ENST00000559916(transcript)|ensembl:ENST00000561424(transcript)|ensembl:ENST00000617605(transcript)|ensembl:ENST00000631573(transcript)|ensembl:ENST00000631728(transcript)|ensembl:ENST00000648006(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001895"(retina homeostasis)|go:"GO:0001916"(positive regulation of T cell mediated cytotoxicity)|go:"GO:0002481"(antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent)|go:"GO:0002726"(positive regulation of T cell cytokine production)|go:"GO:0003254"(regulation of membrane depolarization)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0002237"(response to molecule of bacterial origin)|go:"GO:0005925"(focal adhesion)|go:"GO:0006826"(iron ion transport)|go:"GO:0006955"(immune response)|go:"GO:0007611"(learning or memory)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0016020"(membrane)|go:"GO:0019731"(antibacterial humoral response)|go:"GO:0019885"(antigen processing and presentation of endogenous peptide antigen via MHC class I)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031905"(early endosome lumen)|go:"GO:0032092"(positive regulation of protein binding)|go:"GO:0033077"(T cell differentiation in thymus)|go:"GO:0034756"(regulation of iron ion transport)|go:"GO:0035580"(specific granule lumen)|go:"GO:0042026"(protein refolding)|go:"GO:0042493"|go:"GO:0042612"(MHC class I protein complex)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042824"(MHC class I peptide loading complex)|go:"GO:0045087"(innate immune response)|go:"GO:0045646"(regulation of erythrocyte differentiation)|go:"GO:0046686"(response to cadmium ion)|go:"GO:0048260"(positive regulation of receptor-mediated endocytosis)|go:"GO:0050680"(negative regulation of epithelial cell proliferation)|go:"GO:0050768"(negative regulation of neurogenesis)|go:"GO:0050829"(defense response to Gram-negative bacterium)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0055072"(iron ion homeostasis)|go:"GO:0061844"(antimicrobial humoral immune response mediated by antimicrobial peptide)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071281"(cellular response to iron ion)|go:"GO:0071283"("cellular response to iron(III) ion")|go:"GO:0071316"(cellular response to nicotine)|go:"GO:0090647"(modulation of age-related behavioral decline)|go:"GO:1900121"(negative regulation of receptor binding)|go:"GO:1900122"(positive regulation of receptor binding)|go:"GO:1904434"(positive regulation of ferrous iron binding)|go:"GO:1904437"(positive regulation of transferrin receptor binding)|go:"GO:1904724"(tertiary granule lumen)|go:"GO:1990000"(amyloid fibril formation)|go:"GO:1990712"(HFE-transferrin receptor complex)|go:"GO:2000774"(positive regulation of cellular senescence)|go:"GO:2000978"(negative regulation of forebrain neuron differentiation)|interpro:IPR003006(Immunoglobulin/major histocompatibility complex, conserved site)|interpro:IPR003597(Immunoglobulin C1-set)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR015707(Beta-2-Microglobulin)|interpro:IPR036179|mint:P61769|rcsb pdb:1A1M|rcsb pdb:1A1N|rcsb pdb:1A1O|rcsb pdb:1A6Z|rcsb pdb:1A9B|rcsb pdb:1A9E|rcsb pdb:1AGB|rcsb pdb:1AGC|rcsb pdb:1AGD|rcsb pdb:1AGE|rcsb pdb:1AGF|rcsb pdb:1AKJ|rcsb pdb:1AO7|rcsb pdb:1B0G|rcsb pdb:1B0R|rcsb pdb:1BD2|rcsb pdb:1C16|rcsb pdb:1CE6|rcsb pdb:1CG9|rcsb pdb:1DE4|rcsb pdb:1DUY|rcsb pdb:1DUZ|rcsb pdb:1E27|rcsb pdb:1E28|rcsb pdb:1EEY|rcsb pdb:1EEZ|rcsb pdb:1EFX|rcsb pdb:1EXU|rcsb pdb:1GZP|rcsb pdb:1GZQ|rcsb pdb:1HHG|rcsb pdb:1HHH|rcsb pdb:1HHI|rcsb pdb:1HHJ|rcsb pdb:1HHK|rcsb pdb:1HLA|rcsb pdb:1HSA|rcsb pdb:1HSB|rcsb pdb:1I1F|rcsb pdb:1I1Y|rcsb pdb:1I4F|rcsb pdb:1I7R|rcsb pdb:1I7T|rcsb pdb:1I7U|rcsb pdb:1IM3|rcsb pdb:1IM9|rcsb pdb:1JF1|rcsb pdb:1JGD|rcsb pdb:1JGE|rcsb pdb:1JHT|rcsb pdb:1JNJ|rcsb pdb:1K5N|rcsb pdb:1KPR|rcsb pdb:1KTL|rcsb pdb:1LDS|rcsb pdb:1LP9|rcsb pdb:1M05|rcsb pdb:1M6O|rcsb pdb:1MHE|rcsb pdb:1MI5|rcsb pdb:1N2R|rcsb pdb:1OF2|rcsb pdb:1OGA|rcsb pdb:1OGT|rcsb pdb:1ONQ|rcsb pdb:1P7Q|rcsb pdb:1PY4|rcsb pdb:1Q94|rcsb pdb:1QEW|rcsb pdb:1QLF|rcsb pdb:1QQD|rcsb pdb:1QR1|rcsb pdb:1QRN|rcsb pdb:1T20|rcsb pdb:1QSE|rcsb pdb:1QSF|rcsb pdb:1QVO|rcsb pdb:1T21|rcsb pdb:1T22|rcsb pdb:1R3H|rcsb pdb:1S8D|rcsb pdb:1TMC|rcsb pdb:1TVB|rcsb pdb:1TVH|rcsb pdb:1UQS|rcsb pdb:1UR7|rcsb pdb:1UXS|rcsb pdb:1UXW|rcsb pdb:1VGK|rcsb pdb:1W0V|rcsb pdb:1W0W|rcsb pdb:1W72|rcsb pdb:1X7Q|rcsb pdb:1XH3|rcsb pdb:1XR8|rcsb pdb:1XR9|rcsb pdb:1XZ0|rcsb pdb:1YDP|rcsb pdb:1YPZ|rcsb pdb:1S9W|rcsb pdb:1S9X|rcsb pdb:1S9Y|rcsb pdb:1SYS|rcsb pdb:1SYV|rcsb pdb:1ZHK|rcsb pdb:1T1W|rcsb pdb:1ZHL|rcsb pdb:1ZS8|rcsb pdb:1ZSD|rcsb pdb:1ZT4|rcsb pdb:1ZVS|rcsb pdb:2A83|rcsb pdb:2AK4|rcsb pdb:2AV1|rcsb pdb:2AV7|rcsb pdb:2AXF|rcsb pdb:2AXG|rcsb pdb:2BCK|rcsb pdb:2BNQ|rcsb pdb:2BNR|rcsb pdb:2BSR|rcsb pdb:2BSS|rcsb pdb:2BST|rcsb pdb:2BVO|rcsb pdb:1T1X|rcsb pdb:2BVP|rcsb pdb:2BVQ|rcsb pdb:1T1Y|rcsb pdb:2C7U|rcsb pdb:2CII|rcsb pdb:1T1Z|rcsb pdb:2CIK|rcsb pdb:2CLR|rcsb pdb:2D31|rcsb pdb:2D4D|rcsb pdb:2D4F|rcsb pdb:2DYP|rcsb pdb:2E8D|rcsb pdb:2ESV|rcsb pdb:2F53|rcsb pdb:2F54|rcsb pdb:2F74|rcsb pdb:2F8O|rcsb pdb:2FYY|rcsb pdb:2FZ3|rcsb pdb:2GIT|rcsb pdb:2GJ6|rcsb pdb:2GT9|rcsb pdb:2GTW|rcsb pdb:2GTZ|rcsb pdb:2GUO|rcsb pdb:2H26|rcsb pdb:2H6P|rcsb pdb:2HJK|rcsb pdb:2HJL|rcsb pdb:2HLA|rcsb pdb:2HN7|rcsb pdb:2J8U|rcsb pdb:2JCC|rcsb pdb:2NW3|rcsb pdb:2NX5|refseq:NP_004039.1|rcsb pdb:2P5E|rcsb pdb:2P5W|rcsb pdb:2PO6|rcsb pdb:2PYE|rcsb pdb:2RFX|rcsb pdb:2UWE|rcsb pdb:2V2W|rcsb pdb:2V2X|rcsb pdb:2VB5|rcsb pdb:2VLJ|rcsb pdb:2VLK|rcsb pdb:2VLL|rcsb pdb:2VLR|rcsb pdb:2X4N|rcsb pdb:2X4O|rcsb pdb:2X4P|rcsb pdb:2X4Q|rcsb pdb:2X4R|rcsb pdb:2X4S|rcsb pdb:2X4T|rcsb pdb:2X4U|rcsb pdb:2X70|rcsb pdb:2X89|rcsb pdb:2XKS|rcsb pdb:2XKU|rcsb pdb:2XPG|rcsb pdb:2YPK|rcsb pdb:2YPL|rcsb pdb:2YXF|rcsb pdb:2Z9T|rcsb pdb:3AM8|rcsb pdb:3B3I|rcsb pdb:3B6S|rcsb pdb:3BGM|rcsb pdb:3BH8|rcsb pdb:3BH9|rcsb pdb:3BHB|rcsb pdb:3BO8|rcsb pdb:3BP4|rcsb pdb:3BP7|rcsb pdb:3BVN|rcsb pdb:3BW9|rcsb pdb:3BWA|rcsb pdb:3BXN|rcsb pdb:3BZE|rcsb pdb:3BZF|rcsb pdb:3C9N|rcsb pdb:3CDG|rcsb pdb:3CII|rcsb pdb:3CIQ|rcsb pdb:3CZF|rcsb pdb:3D18|rcsb pdb:3D25|rcsb pdb:3D2U|rcsb pdb:3D39|rcsb pdb:3D3V|rcsb pdb:3DBX|rcsb pdb:3DHJ|rcsb pdb:3DHM|rcsb pdb:3DTX|rcsb pdb:3DX6|rcsb pdb:3DX7|rcsb pdb:3DX8|rcsb pdb:3DXA|rcsb pdb:3EKC|rcsb pdb:3FFC|rcsb pdb:3FQN|rcsb pdb:3FQR|rcsb pdb:3FQT|rcsb pdb:3FQU|rcsb pdb:3FQW|rcsb pdb:3FQX|rcsb pdb:3FT2|rcsb pdb:3FT3|rcsb pdb:3FT4|rcsb pdb:3GIV|rcsb pdb:3GJF|rcsb pdb:3GSN|rcsb pdb:3GSO|rcsb pdb:3GSQ|rcsb pdb:3GSR|rcsb pdb:3GSU|rcsb pdb:3GSV|rcsb pdb:3GSW|rcsb pdb:3GSX|rcsb pdb:3H7B|rcsb pdb:3H9H|rcsb pdb:3H9S|rcsb pdb:3HAE|rcsb pdb:3HCV|rcsb pdb:3HG1|rcsb pdb:3HLA|rcsb pdb:3HPJ|rcsb pdb:3HUJ|rcsb pdb:3I6G|rcsb pdb:3I6K|rcsb pdb:3I6L|rcsb pdb:3IB4|rcsb pdb:3IXA|rcsb pdb:3JTS|rcsb pdb:3KLA|rcsb pdb:3KPL|rcsb pdb:3KPM|rcsb pdb:3KPN|rcsb pdb:3L3G|rcsb pdb:3L3I|rcsb pdb:3L3J|rcsb pdb:3L3K|rcsb pdb:3KPO|rcsb pdb:3LKN|rcsb pdb:3LKO|rcsb pdb:3LKP|rcsb pdb:3LKQ|rcsb pdb:3LKR|rcsb pdb:3LKS|rcsb pdb:3LN4|rcsb pdb:3LN5|rcsb pdb:3LOW|rcsb pdb:3LOZ|rcsb pdb:3LV3|rcsb pdb:3KPP|rcsb pdb:3KPQ|rcsb pdb:3KPR|rcsb pdb:3M17|rcsb pdb:3M1B|rcsb pdb:3MGO|rcsb pdb:3MGT|rcsb pdb:3MR9|rcsb pdb:3MRB|rcsb pdb:3MRC|rcsb pdb:3MRD|rcsb pdb:3KPS|rcsb pdb:3KWW|rcsb pdb:3MRE|rcsb pdb:3MRF|rcsb pdb:3MRG|rcsb pdb:3MRH|rcsb pdb:3MRI|rcsb pdb:3MRJ|rcsb pdb:3MRK|rcsb pdb:3MRL|rcsb pdb:3MRM|rcsb pdb:3MRN|rcsb pdb:3MRO|rcsb pdb:3MRP|rcsb pdb:3MRQ|rcsb pdb:3MRR|rcsb pdb:3MV7|rcsb pdb:3KXF|rcsb pdb:3MV8|rcsb pdb:3MV9|rcsb pdb:3MYJ|rcsb pdb:3MYZ|rcsb pdb:3MZT|rcsb pdb:3KYN|rcsb pdb:3NA4|rcsb pdb:3NFN|rcsb pdb:3O3A|rcsb pdb:3O3B|rcsb pdb:3O3D|rcsb pdb:3O3E|rcsb pdb:3O4L|rcsb pdb:3OV6|rcsb pdb:3OX8|rcsb pdb:3OXR|rcsb pdb:3OXS|rcsb pdb:3PWJ|rcsb pdb:3PWL|rcsb pdb:3PWN|rcsb pdb:3PWP|rcsb pdb:3QDA|rcsb pdb:3QDG|rcsb pdb:3QDJ|rcsb pdb:3QDM|rcsb pdb:3QEQ|rcsb pdb:3QFD|rcsb pdb:3QFJ|rcsb pdb:3QZW|rcsb pdb:3REW|rcsb pdb:3KYO|rcsb pdb:3L3D|rcsb pdb:3RL1|rcsb pdb:3RL2|rcsb pdb:3RWJ|rcsb pdb:3S6C|rcsb pdb:3SDX|rcsb pdb:3SJV|rcsb pdb:3SKM|rcsb pdb:3SKO|rcsb pdb:3SPV|rcsb pdb:3TID|rcsb pdb:3TIE|rcsb pdb:3TLR|rcsb pdb:3TM6|rcsb pdb:3TO2|rcsb pdb:3TZV|rcsb pdb:3U0P|rcsb pdb:3UPR|rcsb pdb:3UTQ|rcsb pdb:3UTS|rcsb pdb:3UTT|rcsb pdb:3V5D|rcsb pdb:3V5H|rcsb pdb:3V5K|rcsb pdb:3VCL|rcsb pdb:3VFM|rcsb pdb:3VFN|rcsb pdb:3VFO|rcsb pdb:3VFP|rcsb pdb:3VFR|rcsb pdb:3VFS|rcsb pdb:3VFT|rcsb pdb:3VFU|rcsb pdb:3VFV|rcsb pdb:3VFW|rcsb pdb:3VH8|rcsb pdb:3VRI|rcsb pdb:3VRJ|rcsb pdb:3VWJ|rcsb pdb:3VWK|rcsb pdb:3VXM|rcsb pdb:3VXN|rcsb pdb:3VXO|rcsb pdb:3VXP|rcsb pdb:3VXR|rcsb pdb:3VXS|rcsb pdb:3VXU|rcsb pdb:3W0W|rcsb pdb:3W39|rcsb pdb:3WL9|rcsb pdb:3WLB|rcsb pdb:3WUW|rcsb pdb:3X11|rcsb pdb:3X12|rcsb pdb:3X13|rcsb pdb:3X14|rcsb pdb:4E0K|rcsb pdb:4E0L|rcsb pdb:4E5X|rcsb pdb:4EN3|rcsb pdb:4EUP|rcsb pdb:4F7M|rcsb pdb:4F7P|rcsb pdb:4F7T|rcsb pdb:4FTV|rcsb pdb:4FXL|rcsb pdb:4G8G|rcsb pdb:4G8I|rcsb pdb:4G9D|rcsb pdb:4G9F|rcsb pdb:4GKN|rcsb pdb:4GKS|rcsb pdb:4GUP|rcsb pdb:4HKJ|rcsb pdb:4HWZ|rcsb pdb:4HX1|rcsb pdb:4I48|rcsb pdb:4I4W|rcsb pdb:4JFD|rcsb pdb:4JFE|rcsb pdb:4JFF|rcsb pdb:4JFO|rcsb pdb:4JFP|rcsb pdb:4JFQ|rcsb pdb:4JQV|rcsb pdb:3T8X|rcsb pdb:4JQX|rcsb pdb:4JRX|rcsb pdb:4JRY|rcsb pdb:4K71|rcsb pdb:4K7F|rcsb pdb:4KDT|rcsb pdb:4L29|rcsb pdb:4L3C|rcsb pdb:4L4T|rcsb pdb:4L4V|rcsb pdb:4LCW|rcsb pdb:4L3E|rcsb pdb:4LCY|rcsb pdb:4LHU|rcsb pdb:4LNR|rcsb pdb:4M8V|rcsb pdb:4MJ5|rcsb pdb:4MJ6|rcsb pdb:4MJI|rcsb pdb:4MNQ|rcsb pdb:4N0F|rcsb pdb:4N0U|rcsb pdb:4N8V|rcsb pdb:4NNX|rcsb pdb:4NNY|rcsb pdb:4NO0|rcsb pdb:4NO2|rcsb pdb:4NO3|rcsb pdb:4NO5|rcsb pdb:4NQC|rcsb pdb:4NQD|rcsb pdb:4NQE|rcsb pdb:4NQV|rcsb pdb:4NQX|rcsb pdb:4NT6|rcsb pdb:4O2C|rcsb pdb:4O2E|rcsb pdb:4O2F|rcsb pdb:4ONO|rcsb pdb:4PJ5|rcsb pdb:4PJ7|rcsb pdb:4PJ8|rcsb pdb:4PJ9|rcsb pdb:4PJA|rcsb pdb:4PJB|rcsb pdb:4PJC|rcsb pdb:4PJD|rcsb pdb:4PJE|rcsb pdb:4PJF|rcsb pdb:4PJG|rcsb pdb:4PJH|rcsb pdb:4PJI|rcsb pdb:4PJX|rcsb pdb:4PR5|rcsb pdb:4PRA|rcsb pdb:4PRB|rcsb pdb:4PRD|rcsb pdb:4PRE|rcsb pdb:4PRH|rcsb pdb:4PRI|rcsb pdb:4PRN|rcsb pdb:4PRP|rcsb pdb:4QOK|rcsb pdb:4QRP|rcsb pdb:4QRQ|rcsb pdb:4QRR|rcsb pdb:4QRS|rcsb pdb:4QRT|rcsb pdb:4QRU|rcsb pdb:4R9H|rcsb pdb:4RA3|rcsb pdb:4RAH|rcsb pdb:4RMQ|rcsb pdb:4RMR|rcsb pdb:4RMS|rcsb pdb:4RMT|rcsb pdb:4RMU|rcsb pdb:4RMV|rcsb pdb:4RMW|rcsb pdb:4U1H|rcsb pdb:4U1I|rcsb pdb:4U1J|rcsb pdb:4U1K|rcsb pdb:4U1L|rcsb pdb:4U1M|rcsb pdb:4U1N|rcsb pdb:4U1S|rcsb pdb:4U6X|rcsb pdb:4U6Y|rcsb pdb:4UQ2|rcsb pdb:4UQ3|rcsb pdb:4WC8|rcsb pdb:4WDI|rcsb pdb:4WJ5|rcsb pdb:4WO4|rcsb pdb:4WU5|rcsb pdb:4WU7|rcsb pdb:4WUU|rcsb pdb:4WW2|rcsb pdb:4WWK|rcsb pdb:4X0S|rcsb pdb:4X6C|rcsb pdb:4X6D|rcsb pdb:4X6E|rcsb pdb:4X6F|rcsb pdb:4Z76|rcsb pdb:4Z77|rcsb pdb:4Z78|rcsb pdb:5B38|rcsb pdb:5B39|rcsb pdb:4XXC|rcsb pdb:5BJT|rcsb pdb:5BRZ|rcsb pdb:5BS0|rcsb pdb:5BXF|rcsb pdb:5C07|rcsb pdb:5C08|rcsb pdb:5C09|rcsb pdb:5C0A|rcsb pdb:5C0B|rcsb pdb:5C0C|rcsb pdb:5C0D|rcsb pdb:5C0E|rcsb pdb:5C0F|rcsb pdb:5C0G|rcsb pdb:5C0I|rcsb pdb:5C0J|rcsb pdb:5C9J|rcsb pdb:5CFH|rcsb pdb:5CKA|rcsb pdb:5CKG|rcsb pdb:5CS7|rcsb pdb:5CSB|rcsb pdb:5CSG|rcsb pdb:5D2L|rcsb pdb:5D2N|rcsb pdb:5D5M|rcsb pdb:5D7I|rcsb pdb:5D7J|rcsb pdb:5D7L|rcsb pdb:5D9S|rcsb pdb:5DDH|rcsb pdb:5DEF|rcsb pdb:5DEG|rcsb pdb:5E00|rcsb pdb:5E6I|rcsb pdb:5E9D|rcsb pdb:5ENW|rcsb pdb:5EO0|rcsb pdb:5EO1|rcsb pdb:5EOT|rcsb pdb:5EU3|rcsb pdb:5EU4|rcsb pdb:5EU5|rcsb pdb:5EU6|rcsb pdb:5EUO|rcsb pdb:5F1I|rcsb pdb:5F7D|rcsb pdb:5F9J|rcsb pdb:5FA3|rcsb pdb:5FA4|rcsb pdb:5FDW|rcsb pdb:5GR7|rcsb pdb:5GRD|rcsb pdb:5GRG|rcsb pdb:5GSB|rcsb pdb:5GSD|rcsb pdb:5GSR|rcsb pdb:5GSV|rcsb pdb:5GSX|rcsb pdb:5HGA|rcsb pdb:5HGB|rcsb pdb:5HGD|rcsb pdb:5HGH|rcsb pdb:5HHM|rcsb pdb:5HHN|rcsb pdb:5HHO|rcsb pdb:5HHP|rcsb pdb:5HHQ|dip:DIP-6055N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:P08CZT3zl5vRrh+ELuLhkCM7jR89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61160 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353580|ensembl:ENSP00000260641|uniprotkb:O15142|uniprotkb:Q96C82|uniprotkb:B2RCP5|uniprotkb:D6W5F4|uniprotkb:E9PF41 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arp2_human(display_long)|uniprotkb:ACTR2(gene name)|psi-mi:ACTR2(display_short)|uniprotkb:ARP2(gene name synonym)|uniprotkb:Actin-like protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138071(gene)|ensembl:ENST00000260641(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0007163"(establishment or maintenance of cell polarity)|go:"GO:0008306"(associative learning)|go:"GO:0008356"(asymmetric cell division)|go:"GO:0010592"(positive regulation of lamellipodium assembly)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016344"(meiotic chromosome movement towards spindle pole)|go:"GO:0016482"(cytosolic transport)|go:"GO:0030027"(lamellipodium)|go:"GO:0030478"(actin cap)|go:"GO:0033206"(meiotic cytokinesis)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0035861"(site of double-strand break)|go:"GO:0035902"(response to immobilization stress)|go:"GO:0035984"(cellular response to trichostatin A)|go:"GO:0045471"(response to ethanol)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0051653"(spindle localization)|go:"GO:0060271"(cilium assembly)|go:"GO:0061003"(positive regulation of dendritic spine morphogenesis)|go:"GO:0061825"(podosome core)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:1904813"(ficolin-1-rich granule lumen)|refseq:NP_001005386.1|refseq:NP_005713.1|go:"GO:1905168"(positive regulation of double-strand break repair via homologous recombination)|interpro:IPR004000(Actin/actin-like)|interpro:IPR020902|interpro:IPR043129|mint:P61160|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-6798695|reactome:R-HSA-8856828|reactome:R-HSA-9664422|dip:DIP-33165N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:URQsZpIsMtsFZAnpLYDDvgKcPqA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61158 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351428|uniprotkb:P32391|ensembl:ENSP00000263238|uniprotkb:Q53QM2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arp3_human(display_long)|uniprotkb:ACTR3(gene name)|psi-mi:ACTR3(display_short)|uniprotkb:ARP3(gene name synonym)|uniprotkb:Actin-like protein 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005712.1|ensembl:ENSG00000115091(gene)|ensembl:ENST00000263238(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005903"(brush border)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0007163"(establishment or maintenance of cell polarity)|go:"GO:0008356"(asymmetric cell division)|go:"GO:0010592"(positive regulation of lamellipodium assembly)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016344"(meiotic chromosome movement towards spindle pole)|go:"GO:0030027"(lamellipodium)|go:"GO:0033206"(meiotic cytokinesis)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0051653"(spindle localization)|go:"GO:0060271"(cilium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070358"(actin polymerization-dependent cell motility)|go:"GO:0071346"(cellular response to interferon-gamma)|interpro:IPR004000(Actin/actin-like)|interpro:IPR015623(Actin-related protein 3)|interpro:IPR020902|interpro:IPR043129|mint:P61158|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|dip:DIP-33140N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XbkZeKzG8lGbT8dxYkGqeJT0vEg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61026 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-726075|uniprotkb:O88386|uniprotkb:Q6IA52|uniprotkb:Q9D7X6|uniprotkb:Q9H0T3|uniprotkb:D6W538|ensembl:ENSP00000264710 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rab10_human(display_long)|uniprotkb:RAB10(gene name)|psi-mi:RAB10(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_057215.3|go:"GO:0006904"(vesicle docking involved in exocytosis)|go:"GO:0007409"(axonogenesis)|go:"GO:0008021"(synaptic vesicle)|go:"GO:0009306"(protein secretion)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0016197"(endosomal transport)|go:"GO:0017157"(regulation of exocytosis)|go:"GO:0019003"(GDP binding)|go:"GO:0019882"(antigen processing and presentation)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0030859"(polarized epithelial cell differentiation)|go:"GO:0031489"(myosin V binding)|go:"GO:0032593"(insulin-responsive compartment)|go:"GO:0032869"(cellular response to insulin stimulus)|go:"GO:0043001"(Golgi to plasma membrane protein transport)|go:"GO:0045055"(regulated exocytosis)|go:"GO:0045200"(establishment of neuroblast polarity)|go:"GO:0006893"(Golgi to plasma membrane transport)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0055037"(recycling endosome)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070382"(exocytic vesicle)|go:"GO:0071782"(endoplasmic reticulum tubular network)|go:"GO:0071786"(endoplasmic reticulum tubular network organization)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0090150"(establishment of protein localization to membrane)|go:"GO:0097051"(establishment of protein localization to endoplasmic reticulum membrane)|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|go:"GO:1903361"(protein localization to basolateral plasma membrane)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|rcsb pdb:5LPN|rcsb pdb:5SZJ|reactome:R-HSA-1445148|reactome:R-HSA-6798695|reactome:R-HSA-8873719|reactome:R-HSA-8876198|ensembl:ENSG00000084733(gene)|ensembl:ENST00000264710(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0003925"(G protein activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005768"(endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0005929"(cilium) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZbfLtWtXl3z6/MYyhiZp6P1Y5tE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P60953 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-81752|uniprotkb:P21181|uniprotkb:P25763|uniprotkb:Q7L8R5|uniprotkb:Q9UDI2|ensembl:ENSP00000341072|ensembl:ENSP00000383118|ensembl:ENSP00000497733|ensembl:ENSP00000499457|ensembl:ENSP00000499612 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cdc42_human(display_long)|uniprotkb:CDC42(gene name)|psi-mi:CDC42(display_short)|uniprotkb:G25K GTP-binding protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001034891.1|refseq:NP_001782.1|refseq:NP_426359.1|go:"GO:0007088"(regulation of mitotic nuclear division)|go:"GO:0007097"(nuclear migration)|go:"GO:0007163"(establishment or maintenance of cell polarity)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0010591"(regulation of lamellipodium assembly)|go:"GO:0010592"(positive regulation of lamellipodium assembly)|go:"GO:0016020"(membrane)|go:"GO:0005829"(cytosol)|go:"GO:0016477"(cell migration)|go:"GO:0017119"(Golgi transport complex)|go:"GO:0019901"(protein kinase binding)|go:"GO:0021762"(substantia nigra development)|go:"GO:0030031"(cell projection assembly)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0030141"(secretory granule)|go:"GO:0030175"(filopodium)|go:"GO:0030225"(macrophage differentiation)|go:"GO:0030307"(positive regulation of cell growth)|go:"GO:0030496"(midbody)|go:"GO:0005886"(plasma membrane)|go:"GO:0030742"(GTP-dependent protein binding)|go:"GO:0031256"(leading edge membrane)|go:"GO:0031274"(positive regulation of pseudopodium assembly)|go:"GO:0005911"(cell-cell junction)|go:"GO:0031333"(negative regulation of protein-containing complex assembly)|go:"GO:0031435"(mitogen-activated protein kinase kinase kinase binding)|go:"GO:0005925"(focal adhesion)|go:"GO:0006897"(endocytosis)|go:"GO:0006911"(phagocytosis, engulfment)|go:"GO:0007015"(actin filament organization)|go:"GO:0007030"(Golgi organization)|go:"GO:0034329"(cell junction assembly)|go:"GO:0034332"(adherens junction organization)|go:"GO:0034613"(cellular protein localization)|go:"GO:0036336"(dendritic cell migration)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0038189"(neuropilin signaling pathway)|go:"GO:0039694"(viral RNA genome replication)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043025"(neuronal cell body)|go:"GO:0031996"(thioesterase binding)|go:"GO:0043197"(dendritic spine)|go:"GO:0043393"(regulation of protein binding)|go:"GO:0043525"(positive regulation of neuron apoptotic process)|go:"GO:0043552"(positive regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0045177"(apical part of cell)|go:"GO:0045198"(establishment of epithelial cell apical/basal polarity)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045740"(positive regulation of DNA replication)|go:"GO:0046330"(positive regulation of JNK cascade)|go:"GO:0032427"(GBD domain binding)|go:"GO:0032467"(positive regulation of cytokinesis)|go:"GO:0032488"(Cdc42 protein signal transduction)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034191"(apolipoprotein A-I receptor binding)|ensembl:ENSG00000070831(gene)|ensembl:ENST00000344548(transcript)|ensembl:ENST00000400259(transcript)|ensembl:ENST00000648594(transcript)|ensembl:ENST00000656825(transcript)|ensembl:ENST00000662562(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000322"(storage vacuole)|go:"GO:0002040"(sprouting angiogenesis)|go:"GO:0003161"(cardiac conduction system development)|go:"GO:0003924"(GTPase activity)|go:"GO:0003925"(G protein activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0060661"(submandibular salivary gland formation)|go:"GO:0060997"(dendritic spine morphogenesis)|go:"GO:0061630"(ubiquitin protein ligase activity)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0072384"(organelle transport along microtubule)|go:"GO:0072686"(mitotic spindle)|go:"GO:0090135"(actin filament branching)|go:"GO:0090316"(positive regulation of intracellular protein transport)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0099159"(regulation of modification of postsynaptic structure)|go:"GO:0099563"(modification of synaptic structure)|go:"GO:1900026"(positive regulation of substrate adhesion-dependent cell spreading)|go:"GO:2000251"(positive regulation of actin cytoskeleton reorganization)|interpro:IPR001806(Ras GTPase)|interpro:IPR003578(Ras small GTPase, Rho type)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR037874|mint:P60953|go:"GO:0046847"(filopodium assembly)|go:"GO:0048549"(positive regulation of pinocytosis)|go:"GO:0048664"(neuron fate determination)|go:"GO:0051233"(spindle midzone)|go:"GO:0051489"(regulation of filopodium assembly)|go:"GO:0051491"(positive regulation of filopodium assembly)|go:"GO:0051492"(regulation of stress fiber assembly)|go:"GO:0051496"(positive regulation of stress fiber assembly)|go:"GO:0051683"(establishment of Golgi localization)|go:"GO:0051835"(positive regulation of synapse structural plasticity)|go:"GO:0051988"(regulation of attachment of spindle microtubules to kinetochore)|go:"GO:0060047"(heart contraction)|go:"GO:0060071"(Wnt signaling pathway, planar cell polarity pathway)|go:"GO:0060501"(positive regulation of epithelial cell proliferation involved in lung morphogenesis)|dip:DIP-31097N|reactome:R-HSA-983231|rcsb pdb:1AJE|rcsb pdb:1AM4|rcsb pdb:1AN0|rcsb pdb:1CEE|rcsb pdb:1CF4|rcsb pdb:1DOA|rcsb pdb:1E0A|rcsb pdb:1EES|rcsb pdb:1GRN|rcsb pdb:1GZS|rcsb pdb:1KI1|rcsb pdb:1KZ7|rcsb pdb:1KZG|rcsb pdb:1NF3|rcsb pdb:2ASE|rcsb pdb:2DFK|rcsb pdb:2KB0|rcsb pdb:2NGR|rcsb pdb:2ODB|rcsb pdb:2QRZ|rcsb pdb:2WM9|rcsb pdb:2WMN|rcsb pdb:2WMO|rcsb pdb:3GCG|rcsb pdb:3QBV|rcsb pdb:3VHL|rcsb pdb:4DID|rcsb pdb:4ITR|rcsb pdb:4JS0|rcsb pdb:4YC7|rcsb pdb:4YDH|rcsb pdb:5CJP|rcsb pdb:5FI1|rcsb pdb:5HZK|rcsb pdb:5UPK|rcsb pdb:5UPL|rcsb pdb:6AJ4|rcsb pdb:6AJL|rcsb pdb:6SIU|rcsb pdb:6SUP|rcsb pdb:6TKY|rcsb pdb:6TKZ|reactome:R-HSA-114604|reactome:R-HSA-182971|reactome:R-HSA-2029482|reactome:R-HSA-389359|reactome:R-HSA-3928662|reactome:R-HSA-418885|reactome:R-HSA-428543|reactome:R-HSA-4420097|reactome:R-HSA-525793|reactome:R-HSA-5625970|reactome:R-HSA-5626467|reactome:R-HSA-5627123|reactome:R-HSA-5663213|reactome:R-HSA-5663220|reactome:R-HSA-5687128|reactome:R-HSA-8950505|reactome:R-HSA-8964616|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013406|reactome:R-HSA-9013408|reactome:R-HSA-9013409|reactome:R-HSA-9013420|rcsb pdb:1A4R|reactome:R-HSA-9013423|reactome:R-HSA-9013424|reactome:R-HSA-9664422 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:jiYEHWm+9LQyVj0eUGZOBGaajyU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P60866 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353105|uniprotkb:P17075|uniprotkb:Q5M8S9|uniprotkb:B2R4F4|uniprotkb:B4DW28|ensembl:ENSP00000009589|ensembl:ENSP00000427788|ensembl:ENSP00000503327|ensembl:ENSP00000504123|ensembl:ENSP00000504154|ensembl:ENSP00000504670 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs20_human(display_long)|uniprotkb:RPS20(gene name)|psi-mi:RPS20(display_short)|uniprotkb:Small ribosomal subunit protein uS10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001014.1|refseq:NP_001139699.1|dip:DIP-31245N|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|ensembl:ENSG00000008988(gene)|ensembl:ENST00000009589(transcript)|ensembl:ENST00000521262(transcript)|ensembl:ENST00000676461(transcript)|ensembl:ENST00000676918(transcript)|ensembl:ENST00000678039(transcript)|ensembl:ENST00000678683(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0045202"(synapse)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097371"(MDM2/MDM4 family protein binding)|go:"GO:1901798"(positive regulation of signal transduction by p53 class mediator)|go:"GO:1990948"(ubiquitin ligase inhibitor activity)|interpro:IPR001848(Ribosomal protein S10)|interpro:IPR005729(Ribosomal protein S10, eukaryotic/archaeal)|interpro:IPR018268|interpro:IPR027486|interpro:IPR036838|mint:P60866|rcsb pdb:4UG0|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6xNxX+eP59AOm0KraCysRHUqMFw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P60709 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353944|uniprotkb:P02570|uniprotkb:P70514|uniprotkb:P99021|uniprotkb:Q11211|uniprotkb:Q64316|uniprotkb:Q75MN2|uniprotkb:Q96B34|uniprotkb:Q96HG5|ensembl:ENSP00000494269|ensembl:ENSP00000494750|ensembl:ENSP00000495995|ensembl:ENSP00000501862|ensembl:ENSP00000502821 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actb_human(display_long)|uniprotkb:ACTB(gene name)|psi-mi:ACTB(display_short)|uniprotkb:Beta-actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001092.1|ensembl:ENSG00000075624(gene)|ensembl:ENST00000493945(transcript)|ensembl:ENST00000642480(transcript)|ensembl:ENST00000646664(transcript)|ensembl:ENST00000674681(transcript)|ensembl:ENST00000675515(transcript)|go:"GO:0000079"(regulation of cyclin-dependent protein serine/threonine kinase activity)|go:"GO:0000785"(chromatin)|go:"GO:0001738"(morphogenesis of a polarized epithelium)|go:"GO:0001895"(retina homeostasis)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0007163"(establishment or maintenance of cell polarity)|go:"GO:0007409"(axonogenesis)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0019894"(kinesin binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0021762"(substantia nigra development)|go:"GO:0022898"(regulation of transmembrane transporter activity)|go:"GO:0030027"(lamellipodium)|go:"GO:0030424"(axon)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0030957"(Tat protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034333"(adherens junction assembly)|go:"GO:0035267"(NuA4 histone acetyltransferase complex)|go:"GO:0035633"(maintenance of blood-brain barrier)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042802"(identical protein binding)|go:"GO:0043044"|go:"GO:0043296"(apical junction complex)|go:"GO:0044305"(calyx of Held)|go:"GO:0045176"(apical protein localization)|go:"GO:0045202"(synapse)|go:"GO:0048156"(tau protein binding)|go:"GO:0048488"(synaptic vesicle endocytosis)|go:"GO:0048870"(cell motility)|go:"GO:0050998"(nitric-oxide synthase binding)|go:"GO:0051621"(regulation of norepinephrine uptake)|go:"GO:0051623"(positive regulation of norepinephrine uptake)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070160"(tight junction)|go:"GO:0070527"(platelet aggregation)|reactome:R-HSA-4420097|go:"GO:0071896"(protein localization to adherens junction)|go:"GO:0072562"(blood microparticle)|go:"GO:0072749"(cellular response to cytochalasin B)|go:"GO:0097433"(dense body)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0098793"(presynapse)|go:"GO:0098871"(postsynaptic actin cytoskeleton)|go:"GO:0098973"(structural constituent of postsynaptic actin cytoskeleton)|go:"GO:0098974"(postsynaptic actin cytoskeleton organization)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0150111"(regulation of transepithelial transport)|go:"GO:1903076"(regulation of protein localization to plasma membrane)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:P60709|rcsb pdb:3BYH|rcsb pdb:3D2U|rcsb pdb:3J82|rcsb pdb:3LUE|rcsb pdb:6ANU|rcsb pdb:6ICT|rcsb pdb:6ICV|rcsb pdb:6LTJ|rcsb pdb:6MBJ|rcsb pdb:6MBK|rcsb pdb:6MBL|rcsb pdb:6NBW|rcsb pdb:6OX0|rcsb pdb:6OX1|rcsb pdb:6OX2|rcsb pdb:6OX3|rcsb pdb:6OX4|rcsb pdb:6OX5|rcsb pdb:6V62|rcsb pdb:6V63|rcsb pdb:6WK1|rcsb pdb:6WK2|rcsb pdb:7AS4|reactome:R-HSA-1445148|reactome:R-HSA-190873|reactome:R-HSA-196025|reactome:R-HSA-2029482|reactome:R-HSA-3214847|reactome:R-HSA-389957|reactome:R-HSA-390450|reactome:R-HSA-3928662|reactome:R-HSA-3928665|reactome:R-HSA-418990|reactome:R-HSA-437239|reactome:R-HSA-446353|reactome:R-HSA-5250924|reactome:R-HSA-5626467|reactome:R-HSA-5663213|reactome:R-HSA-5663220|reactome:R-HSA-5674135|reactome:R-HSA-5689603|reactome:R-HSA-5696394|reactome:R-HSA-6802946|reactome:R-HSA-6802948|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-8856828|reactome:R-HSA-9035034|reactome:R-HSA-9649948|reactome:R-HSA-9656223|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9664422|reactome:R-HSA-983231|reactome:R-HSA-445095|dip:DIP-29686N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Hoge1B8Pn56kvbNTpkSLsQuHwRc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P60660 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-300817|uniprotkb:P16475|uniprotkb:P24572|uniprotkb:P24573|uniprotkb:Q12790|ensembl:ENSP00000446955|ensembl:ENSP00000448101|uniprotkb:Q6IAZ0|uniprotkb:Q6IPY5|uniprotkb:Q561V9 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myl6_human(display_long)|uniprotkb:MYL6(gene name)|psi-mi:MYL6(display_short)|uniprotkb:Smooth muscle and nonmuscle myosin light chain alkali 6(gene name synonym)|uniprotkb:Myosin light chain alkali 3(gene name synonym)|uniprotkb:Myosin light chain 3(gene name synonym)|uniprotkb:17 kDa myosin light chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000092841(gene)|ensembl:ENST00000548293(transcript)|ensembl:ENST00000550697(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005829"(cytosol)|go:"GO:0005903"(brush border)|go:"GO:0006936"(muscle contraction)|go:"GO:0007519"(skeletal muscle tissue development)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0016020"(membrane)|go:"GO:0016459"(myosin complex)|go:"GO:0016461"(unconventional myosin complex)|go:"GO:0030049"(muscle filament sliding)|go:"GO:0031982"(vesicle)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|mint:P60660|reactome:R-HSA-3928663|reactome:R-HSA-416572|reactome:R-HSA-445355|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|refseq:NP_066299.2|refseq:NP_524147.2 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LhE3NUqcuHlOla13C0vjnFZfzy89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P59998 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351872|uniprotkb:O15509|uniprotkb:C9JWM7|uniprotkb:E7ETI0|uniprotkb:Q6P0W5|uniprotkb:Q96QJ3|ensembl:ENSP00000380431|uniprotkb:F6TTL5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arpc4_human(display_long)|uniprotkb:ARPC4(gene name)|psi-mi:ARPC4(display_short)|uniprotkb:ARC20(gene name synonym)|uniprotkb:Arp2/3 complex 20 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001185709.1|refseq:NP_005709.1|ensembl:ENSG00000241553(gene)|ensembl:ENST00000397261(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0019899"(enzyme binding)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0042995"(cell projection)|go:"GO:0045010"(actin nucleation)|go:"GO:0070062"(extracellular exosome)|interpro:IPR008384(ARP23 complex 20 kDa subunit)|interpro:IPR034666|mint:P59998|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|refseq:NP_001020130.1|refseq:NP_001020131.1|dip:DIP-33188N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Iqe60TWfO3QBVOY+fOqZd9JWfIE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P57678 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356700|uniprotkb:Q9NZS7|uniprotkb:Q9UG32|uniprotkb:Q9Y4Q2|intact:EBI-1058464|ensembl:ENSP00000321706 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gemi4_human(display_long)|uniprotkb:GEMIN4(gene name)|psi-mi:GEMIN4(display_short)|uniprotkb:Component of gems 4(gene name synonym)|uniprotkb:p97(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_056536.2|ensembl:ENSG00000179409(gene)|ensembl:ENST00000319004(transcript)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006364"(rRNA processing)|go:"GO:0015030"(Cajal body)|go:"GO:0016020"(membrane)|go:"GO:0016604"(nuclear body)|go:"GO:0030532"(small nuclear ribonucleoprotein complex)|go:"GO:0032797"(SMN complex)|go:"GO:0034719"(SMN-Sm protein complex)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097504"(Gemini of coiled bodies)|interpro:IPR033265|mint:P57678|reactome:R-HSA-191859 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PeyFnc2VuUrZrCj8RtkVVS6KQF49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P56545 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-741533|uniprotkb:O43449|uniprotkb:Q5SQP7|uniprotkb:Q69YI3|uniprotkb:Q86SV0|uniprotkb:Q9H2T8|uniprotkb:A8K2X5|ensembl:ENSP00000338615|ensembl:ENSP00000410474|ensembl:ENSP00000434630|ensembl:ENSP00000436285|uniprotkb:D3DRF5|uniprotkb:Q8IY44|intact:EBI-11742664 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ctbp2_human(display_long)|uniprotkb:CTBP2(gene name)|psi-mi:CTBP2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001077383.1|refseq:NP_001320.1|refseq:NP_073713.2|refseq:NP_001307943.1|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098882"(structural constituent of presynaptic active zone)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0099523"(presynaptic cytosol)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:P56545|rcsb pdb:2OME|rcsb pdb:4LCJ|rcsb pdb:6WKW|reactome:R-HSA-4641265|reactome:R-HSA-5339700|reactome:R-HSA-9662360|go:"GO:0048386"(positive regulation of retinoic acid receptor signaling pathway)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0098684"(photoreceptor ribbon synapse)|ensembl:ENSG00000175029(gene)|ensembl:ENST00000337195(transcript)|ensembl:ENST00000411419(transcript)|ensembl:ENST00000494626(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|ensembl:ENST00000531469(transcript)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016081"(synaptic vesicle docking)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019901"(protein kinase binding)|go:"GO:0035563"(positive regulation of chromatin binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0042974"(retinoic acid receptor binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|refseq:XP_011537653.1|refseq:XP_011537655.1|refseq:XP_011537656.1|refseq:XP_011537657.1|refseq:NP_001307941.1|refseq:NP_001307942.1|refseq:XP_005269618.1|refseq:XP_005269621.1|refseq:XP_005269624.1|refseq:XP_005269625.1|refseq:XP_005269626.1|refseq:XP_005269628.1|refseq:XP_005269629.1|refseq:NP_001277143.1|refseq:NP_001277144.1|refseq:XP_006717705.1|refseq:XP_016871245.1|refseq:XP_016871246.1|dip:DIP-42104N|refseq:XP_011537651.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6sKiqjMRW/ViEvTbQJoaUjgvZtc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P55072 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355164|uniprotkb:Q969G7|uniprotkb:Q9UCD5|uniprotkb:B2R5T8|uniprotkb:Q0V924|uniprotkb:Q2TAI5|intact:EBI-1046421|ensembl:ENSP00000351777 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tera_human(display_long)|uniprotkb:VCP(gene name)|psi-mi:VCP(display_short)|uniprotkb:"15S Mg(2+)-ATPase p97 subunit"(gene name synonym)|uniprotkb:Valosin-containing protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_009057.1|rcsb pdb:7BPA|rcsb pdb:7BPB|rcsb pdb:7JY5|reactome:R-HSA-110320|reactome:R-HSA-3371511|reactome:R-HSA-382556|reactome:R-HSA-532668|reactome:R-HSA-5358346|reactome:R-HSA-5362768|reactome:R-HSA-5678895|reactome:R-HSA-5689877|reactome:R-HSA-5689896|reactome:R-HSA-6798695|reactome:R-HSA-8866654|reactome:R-HSA-8876725|reactome:R-HSA-9013407|reactome:R-HSA-9646399|reactome:R-HSA-9678110|reactome:R-HSA-9694614|rcsb pdb:7BP9|go:"GO:0032510"(endosome to lysosome transport via multivesicular body sorting pathway)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034098"(VCP-NPL4-UFD1 AAA ATPase complex)|go:"GO:0034605"(cellular response to heat)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0035617"(stress granule disassembly)|go:"GO:0035800"(deubiquitinase activator activity)|go:"GO:0035861"(site of double-strand break)|go:"GO:0036297"(interstrand cross-link repair)|go:"GO:0036435"(K48-linked polyubiquitin modification-dependent protein binding)|go:"GO:0036503"(ERAD pathway)|go:"GO:0036513"(Derlin-1 retrotranslocation complex)|go:"GO:0042288"(MHC class I protein binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043161"(proteasome-mediated ubiquitin-dependent protein catabolic process)|go:"GO:0032436"(positive regulation of proteasomal ubiquitin-dependent protein catabolic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043531"(ADP binding)|go:"GO:0044389"(ubiquitin-like protein ligase binding)|go:"GO:0045184"(establishment of protein localization)|go:"GO:0045732"(positive regulation of protein catabolic process)|go:"GO:0045879"(negative regulation of smoothened signaling pathway)|go:"GO:0046034"(ATP metabolic process)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050807"(regulation of synapse organization)|go:"GO:0051228"(mitotic spindle disassembly)|go:"GO:0061857"(endoplasmic reticulum stress-induced pre-emptive quality control)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070842"(aggresome assembly)|go:"GO:0071712"(ER-associated misfolded protein catabolic process)|go:"GO:0072389"(flavin adenine dinucleotide catabolic process)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0097352"(autophagosome maturation)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0106300"(protein-DNA covalent cross-linking repair)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1903006"(positive regulation of protein K63-linked deubiquitination)|go:"GO:1903007"(positive regulation of Lys63-specific deubiquitinase activity)|go:"GO:1903715"(regulation of aerobic respiration)|go:"GO:1903843"(cellular response to arsenite ion)|go:"GO:1903862"(positive regulation of oxidative phosphorylation)|go:"GO:1904288"(BAT3 complex binding)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1904949"(ATPase complex)|go:"GO:1905634"(regulation of protein localization to chromatin)|go:"GO:1990381"(ubiquitin-specific protease binding)|go:"GO:1990730"(VCP-NSFL1C complex)|go:"GO:2001171"(positive regulation of ATP biosynthetic process)|interpro:IPR003338(AAA ATPase VAT, N-terminal)|interpro:IPR003593(AAA+ ATPase, core)|ensembl:ENSG00000165280(gene)|ensembl:ENST00000358901(transcript)|go:"GO:0000502"(proteasome complex)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005811"(lipid droplet)|go:"GO:0005829"(cytosol)|go:"GO:0006281"(DNA repair)|go:"GO:0006302"(double-strand break repair)|go:"GO:0006734"(NADH metabolic process)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0006919"(activation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0008289"(lipid binding)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0010498"(proteasomal protein catabolic process)|go:"GO:0010918"(positive regulation of mitochondrial membrane potential)|go:"GO:0016236"(macroautophagy)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0019079"(viral genome replication)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0019985"(translesion synthesis)|go:"GO:0030433"(ubiquitin-dependent ERAD pathway)|go:"GO:0030968"(endoplasmic reticulum unfolded protein response)|go:"GO:0030970"(retrograde protein transport, ER to cytosol)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0031593"(polyubiquitin modification-dependent protein binding)|go:"GO:0031625"(ubiquitin protein ligase binding)|interpro:IPR003959(AAA ATPase, core)|interpro:IPR003960(AAA ATPase, conserved site)|interpro:IPR004201(Cell division protein 48, CDC48, domain 2)|interpro:IPR005938(AAA ATPase, CDC48)|interpro:IPR009010(Aspartate decarboxylase-like fold)|interpro:IPR015415(Vps4 oligomerisation, C-terminal)|interpro:IPR027417|interpro:IPR029067|interpro:IPR041569|mint:P55072|rcsb pdb:3EBB|rcsb pdb:3HU1|rcsb pdb:3HU2|rcsb pdb:3HU3|rcsb pdb:3QC8|rcsb pdb:3QQ7|rcsb pdb:3QQ8|rcsb pdb:3QWZ|rcsb pdb:3TIW|rcsb pdb:4KDI|rcsb pdb:4KDL|rcsb pdb:4KLN|rcsb pdb:4KO8|rcsb pdb:4KOD|rcsb pdb:4P0A|rcsb pdb:5B6C|rcsb pdb:5C18|rcsb pdb:5C19|rcsb pdb:5C1A|rcsb pdb:5C1B|rcsb pdb:5DYG|rcsb pdb:5DYI|rcsb pdb:5EPP|rcsb pdb:5FTJ|rcsb pdb:5FTK|rcsb pdb:5FTL|rcsb pdb:5FTM|rcsb pdb:5FTN|rcsb pdb:5GLF|rcsb pdb:5IFS|rcsb pdb:5IFW|rcsb pdb:5KIW|rcsb pdb:5KIY|rcsb pdb:5X4L|rcsb pdb:6G2V|rcsb pdb:6G2W|rcsb pdb:6G2X|rcsb pdb:6G2Y|rcsb pdb:6G2Z|rcsb pdb:6G30|rcsb pdb:6HD0|rcsb pdb:6MCK|rcsb pdb:7BP8|dip:DIP-33543N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HrjDhdsDcgaf8HEbqqMjUqxPaEs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P54709 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1054481|uniprotkb:B7Z1N7|ensembl:ENSP00000286371 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:at1b3_human(display_long)|uniprotkb:Sodium/potassium-dependent ATPase subunit beta-3(gene name synonym)|uniprotkb:ATP1B3(gene name)|psi-mi:ATP1B3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001670.1|ensembl:ENSG00000069849(gene)|ensembl:ENST00000286371(transcript)|go:"GO:0001671"(ATPase activator activity)|go:"GO:0005391"("P-type sodium:potassium-exchanging transporter activity")|go:"GO:0005886"(plasma membrane)|go:"GO:0005890"("sodium:potassium-exchanging ATPase complex")|go:"GO:0005901"(caveola)|go:"GO:0006883"(cellular sodium ion homeostasis)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030674"(protein-macromolecule adaptor activity)|go:"GO:0032781"(positive regulation of ATP-dependent activity)|go:"GO:0035725"(sodium ion transmembrane transport)|go:"GO:0036126"(sperm flagellum)|go:"GO:0036376"(sodium ion export across plasma membrane)|go:"GO:0042470"(melanosome)|go:"GO:0050821"(protein stabilization)|go:"GO:0051117"(ATPase binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0086009"(membrane repolarization)|go:"GO:1901018"(positive regulation of potassium ion transmembrane transporter activity)|go:"GO:1903278"(positive regulation of sodium ion export across plasma membrane)|go:"GO:1903288"(positive regulation of potassium ion import across plasma membrane)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR000402(ATPase, P-type cation exchange, beta subunit)|interpro:IPR038702|mint:P54709|reactome:R-HSA-210991|reactome:R-HSA-5578775|reactome:R-HSA-936837|reactome:R-HSA-9679191|dip:DIP-50717N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:M7gSVe1bjKF7LqCZh/raoHBvp7M9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P52907 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355586|uniprotkb:Q53FQ6|uniprotkb:Q6FHD5|ensembl:ENSP00000263168 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:caza1_human(display_long)|uniprotkb:CAPZA1(gene name)|psi-mi:CAPZA1(display_short)|uniprotkb:CapZ alpha-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006126.1|ensembl:ENSG00000116489(gene)|ensembl:ENST00000263168(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0008290"(F-actin capping protein complex)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0034329"(cell junction assembly)|go:"GO:0045296"(cadherin binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071203"(WASH complex)|interpro:IPR002189(F-actin capping protein, alpha subunit)|interpro:IPR017865|interpro:IPR037282|interpro:IPR042276|interpro:IPR042489|mint:P52907|rcsb pdb:1MQ1|rcsb pdb:1MWN|reactome:R-HSA-2132295|reactome:R-HSA-3371497|reactome:R-HSA-6807878|reactome:R-HSA-6811436|reactome:R-HSA-879415|reactome:R-HSA-8950505|reactome:R-HSA-9662360|reactome:R-HSA-983231 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:97S4WPtjgt4MDLoptRhQ2yH8UNE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P52272 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-486809|uniprotkb:Q9Y492|uniprotkb:Q15584|uniprotkb:Q8WZ44|uniprotkb:Q96H56|uniprotkb:Q9BWL9|intact:EBI-28985795|ensembl:ENSP00000325376 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hnrpm_human(display_long)|uniprotkb:HNRNPM(gene name)|psi-mi:HNRNPM(display_short)|uniprotkb:HNRPM(gene name synonym)|uniprotkb:NAGR1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005959.2|refseq:NP_112480.2|ensembl:ENSG00000099783(gene)|ensembl:ENST00000325495(transcript)|go:"GO:0000380"(alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0016020"(membrane)|go:"GO:0016363"(nuclear matrix)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0042382"(paraspeckles)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:0071014"(post-mRNA release spliceosomal complex)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000815"(regulation of mRNA stability involved in response to oxidative stress)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR024666|interpro:IPR024667|interpro:IPR034990|interpro:IPR035979|mint:P52272|rcsb pdb:2DGV|rcsb pdb:2DH9|rcsb pdb:2DO0|rcsb pdb:2OT8|reactome:R-HSA-6803529|reactome:R-HSA-72163|reactome:R-HSA-72203|dip:DIP-29336N|ensembl:ENSP00000325376|ensembl:ENST00000348943|ensembl:ENSP00000325732 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5FnCgrz0xltEkgw3yh70KP2jz5g9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P51991 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1050760|uniprotkb:Q53RW7|uniprotkb:Q6URK5|uniprotkb:D3DPF4|ensembl:ENSP00000376309|ensembl:ENSP00000416340|ensembl:ENSP00000503593|ensembl:ENSP00000504135|ensembl:ENSP00000504152 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:roa3_human(display_long)|uniprotkb:HNRPA3(gene name synonym)|uniprotkb:HNRNPA3(gene name)|psi-mi:HNRNPA3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_919223.1|refseq:NP_001317178.1|ensembl:ENSG00000170144(gene)|ensembl:ENST00000392524(transcript)|ensembl:ENST00000435711(transcript)|ensembl:ENST00000676629(transcript)|ensembl:ENST00000678111(transcript)|ensembl:ENST00000679159(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0014069"(postsynaptic density)|go:"GO:0035770"(ribonucleoprotein granule)|go:"GO:0043005"(neuron projection)|go:"GO:0051028"(mRNA transport)|go:"GO:0051033"(RNA transmembrane transporter activity)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1990124"(messenger ribonucleoprotein complex)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034513|interpro:IPR034516|interpro:IPR035979|mint:P51991|reactome:R-HSA-72163|reactome:R-HSA-72203 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:bbg0nIdhEHomcwtgZhT2yHy7+nU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P51809 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1052205|uniprotkb:Q53GY7|uniprotkb:Q7Z409|uniprotkb:Q9H4A7|ensembl:ENSP00000286448 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:vamp7_human(display_long)|uniprotkb:SYBL1(gene name synonym)|uniprotkb:Synaptobrevin-like protein 1(gene name synonym)|uniprotkb:Tetanus-insensitive VAMP(gene name synonym)|uniprotkb:VAMP7(gene name)|psi-mi:VAMP7(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001138621.1|refseq:NP_001172112.1|refseq:NP_005629.1|ensembl:ENSG00000124333(gene)|ensembl:ENST00000286448(transcript)|go:"GO:0000149"(SNARE binding)|go:"GO:0005484"(SNAP receptor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005886"(plasma membrane)|go:"GO:0006887"(exocytosis)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006906"(vesicle fusion)|go:"GO:0006911"(phagocytosis, engulfment)|go:"GO:0008333"(endosome to lysosome transport)|go:"GO:0015031"(protein transport)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0017156"(calcium-ion regulated exocytosis)|go:"GO:0019905"(syntaxin binding)|go:"GO:0030027"(lamellipodium)|go:"GO:0030141"(secretory granule)|go:"GO:0030175"(filopodium)|go:"GO:0030285"(integral component of synaptic vesicle membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031091"(platelet alpha granule)|go:"GO:0031143"(pseudopodium)|go:"GO:0031201"(SNARE complex)|go:"GO:0031902"(late endosome membrane)|go:"GO:0034197"(triglyceride transport)|go:"GO:0035577"(azurophil granule membrane)|go:"GO:0043005"(neuron projection)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043308"(eosinophil degranulation)|go:"GO:0043312"(neutrophil degranulation)|go:"GO:0043320"(natural killer cell degranulation)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0047496"(vesicle transport along microtubule)|go:"GO:0048280"(vesicle fusion with Golgi apparatus)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098686"(hippocampal mossy fiber to CA3 synapse)|go:"GO:1903595"(positive regulation of histamine secretion by mast cell)|interpro:IPR001388(Synaptobrevin)|interpro:IPR010908(Longin)|interpro:IPR011012(Longin-like)|interpro:IPR042855|mint:P51809|rcsb pdb:2DMW|reactome:R-HSA-199992|reactome:R-HSA-432720|reactome:R-HSA-432722|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-9020591 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iGCiTvDrgrPOV7mOfivnbt02zV89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P51149 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1056089|uniprotkb:A8K3V6|uniprotkb:Q9NWJ0|uniprotkb:Q9UPB0|ensembl:ENSP00000265062|ensembl:ENSP00000501618|ensembl:ENSP00000502000|ensembl:ENSP00000502088|ensembl:ENSP00000502486 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rab7a_human(display_long)|uniprotkb:RAB7A(gene name)|psi-mi:RAB7A(display_short)|uniprotkb:RAB7(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004628.4|ensembl:ENSG00000075785(gene)|ensembl:ENST00000265062(transcript)|ensembl:ENST00000674589(transcript)|ensembl:ENST00000675342(transcript)|ensembl:ENST00000675497(transcript)|ensembl:ENST00000676214(transcript)|go:"GO:0000045"(autophagosome assembly)|go:"GO:0000421"(autophagosome membrane)|go:"GO:0003924"(GTPase activity)|go:"GO:0003925"(G protein activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005770"(late endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006622"(protein targeting to lysosome)|go:"GO:0006897"(endocytosis)|go:"GO:0007174"(epidermal growth factor catabolic process)|go:"GO:0008333"(endosome to lysosome transport)|go:"GO:0010008"(endosome membrane)|go:"GO:0015031"(protein transport)|go:"GO:0016042"(lipid catabolic process)|go:"GO:0019003"(GDP binding)|go:"GO:0019076"(viral release from host cell)|go:"GO:0022615"(protein to membrane docking)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0032419"(extrinsic component of lysosome membrane)|go:"GO:0033162"(melanosome membrane)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0045022"(early endosome to late endosome transport)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045732"(positive regulation of protein catabolic process)|go:"GO:0048524"(positive regulation of viral process)|go:"GO:0061724"(lipophagy)|go:"GO:0070062"(extracellular exosome)|go:"GO:0090382"(phagosome maturation)|go:"GO:0090383"(phagosome acidification)|go:"GO:0090385"(phagosome-lysosome fusion)|go:"GO:0099638"(endosome to plasma membrane protein transport)|go:"GO:1902586"(obsolete multi-organism intercellular transport)|go:"GO:1903542"(negative regulation of exosomal secretion)|go:"GO:1903543"(positive regulation of exosomal secretion)|go:"GO:1905366"(negative regulation of intralumenal vesicle formation)|go:"GO:1905394"(retromer complex binding)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|mint:P51149|rcsb pdb:1T91|rcsb pdb:1YHN|rcsb pdb:6IYB|rcsb pdb:6WCW|reactome:R-HSA-2132295|reactome:R-HSA-6798695|reactome:R-HSA-8854214|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013405|reactome:R-HSA-9013406|reactome:R-HSA-9013407|reactome:R-HSA-9013408|reactome:R-HSA-9013409|reactome:R-HSA-9013423|reactome:R-HSA-9035034|reactome:R-HSA-9636383|reactome:R-HSA-9636569|rcsb pdb:3LAW|dip:DIP-39879N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:AJbKizzw4zCAn+roRF2Im1Tt4xE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P51148 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1054923|intact:EBI-2798296|uniprotkb:Q9P0Y5|uniprotkb:Q6FH55|uniprotkb:F8W1H5|ensembl:ENSP00000345689|ensembl:ENSP00000377440 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rab5c_human(display_long)|uniprotkb:RABL(gene name synonym)|uniprotkb:RAB5C(gene name)|psi-mi:RAB5C(display_short)|uniprotkb:RAB5L(gene name synonym)|uniprotkb:L1880(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004574.2|refseq:NP_958842.1|refseq:XP_011523392.1|refseq:XP_011523393.1|refseq:NP_001238968.1|ensembl:ENSG00000108774(gene)|ensembl:ENST00000346213(transcript)|ensembl:ENST00000393860(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0003925"(G protein activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006897"(endocytosis)|go:"GO:0012505"(endomembrane system)|go:"GO:0019003"(GDP binding)|go:"GO:0030100"(regulation of endocytosis)|go:"GO:0030139"(endocytic vesicle)|go:"GO:0031901"(early endosome membrane)|go:"GO:0035577"(azurophil granule membrane)|go:"GO:0042470"(melanosome)|go:"GO:0048227"(plasma membrane to endosome transport)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|rcsb pdb:4KYI|reactome:R-HSA-432722|reactome:R-HSA-6798695|reactome:R-HSA-8854214|reactome:R-HSA-8856828|reactome:R-HSA-8873719|reactome:R-HSA-8876198 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:sz3lmmxPJk0/IzQ9dZF0PzfNhBY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P50914 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356746|uniprotkb:Q45RF0|uniprotkb:Q53G20|uniprotkb:Q8TBD5|uniprotkb:Q8WUT0|uniprotkb:Q92579|uniprotkb:Q96GR0|uniprotkb:Q9BSB8|uniprotkb:Q9BW65|uniprotkb:Q9BYF6|ensembl:ENSP00000345156|ensembl:ENSP00000379506 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl14_human(display_long)|uniprotkb:RPL14(gene name)|psi-mi:RPL14(display_short)|uniprotkb:CAG-ISL 7(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL14(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001030168.1|refseq:NP_003964.3|go:"GO:0045296"(cadherin binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002784(Ribosomal protein L14)|interpro:IPR008991(Translation protein SH3-like)|ensembl:ENSG00000188846(gene)|ensembl:ENST00000338970(transcript)|ensembl:ENST00000396203(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005829"(cytosol)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042273"(ribosomal large subunit biogenesis)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR041985|mint:P50914|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|interpro:IPR039660|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6Y2L intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:AjaguD5hgHtcBbJq5QfuG6XdTcE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P49755 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-998422|uniprotkb:Q15602|uniprotkb:Q16536|uniprotkb:Q86TC2|uniprotkb:Q86TS5|uniprotkb:B2R605|intact:EBI-1058680|ensembl:ENSP00000303145 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tmeda_human(display_long)|uniprotkb:21 kDa transmembrane-trafficking protein(gene name synonym)|uniprotkb:Transmembrane protein Tmp21(gene name synonym)|uniprotkb:Tmp-21-I(gene name synonym)|uniprotkb:p24delta(gene name synonym)|uniprotkb:S31III125(gene name synonym)|uniprotkb:TMED10(gene name)|psi-mi:TMED10(display_short)|uniprotkb:TMP21(gene name synonym)|uniprotkb:p23(gene name synonym)|uniprotkb:p24 family protein delta-1(gene name synonym)|uniprotkb:S31I125(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0007030"(Golgi organization)|go:"GO:0008320"(protein transmembrane transporter activity)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019905"(syntaxin binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030134"(COPII-coated ER to Golgi transport vesicle)|go:"GO:0030137"(COPI-coated vesicle)|go:"GO:0030140"(trans-Golgi network transport vesicle)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0032732"(positive regulation of interleukin-1 production)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0035459"(vesicle cargo loading)|go:"GO:0035964"(COPI-coated vesicle budding)|go:"GO:0042470"(melanosome)|go:"GO:0042589"(zymogen granule membrane)|go:"GO:0043279"(response to alkaloid)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045055"(regulated exocytosis)|go:"GO:0048199"(vesicle targeting, to, from or within Golgi)|go:"GO:0048205"(COPI coating of Golgi vesicle)|go:"GO:0048208"(COPII vesicle coating)|go:"GO:0050714"(positive regulation of protein secretion)|go:"GO:0070765"(gamma-secretase complex)|go:"GO:0106272"(protein localization to ERGIC)|go:"GO:0106273"(cytosol to ERGIC protein transport)|go:"GO:1902003"(regulation of amyloid-beta formation)|go:"GO:1902960"(negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process)|interpro:IPR009038(GOLD)|interpro:IPR015720(TMP21 related)|mint:P49755|reactome:R-HSA-204005|reactome:R-HSA-5694530|reactome:R-HSA-6807878|reactome:R-HSA-6811434|go:"GO:0006890"(retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum)|ensembl:ENSG00000170348(gene)|ensembl:ENST00000303575(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001822"(kidney development)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005801"(cis-Golgi network)|go:"GO:0005886"(plasma membrane)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|refseq:NP_006818.3 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Sj4B0x1qf0VJmI1aDFaw2/PiTxM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P48681 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10966836|ensembl:ENSP00000357206|uniprotkb:Q5SYZ6|uniprotkb:Q3LIF5|uniprotkb:O00552 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nest_human(display_long)|uniprotkb:NES(gene name)|psi-mi:NES(display_short)|uniprotkb:Nbla00170(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006608.1|ensembl:ENSG00000132688(gene)|ensembl:ENST00000368223(transcript)|go:"GO:0000086"(G2/M transition of mitotic cell cycle)|go:"GO:0005737"(cytoplasm)|go:"GO:0005882"(intermediate filament)|go:"GO:0007417"(central nervous system development)|go:"GO:0007420"(brain development)|go:"GO:0019215"(intermediate filament binding)|go:"GO:0030844"(positive regulation of intermediate filament depolymerization)|go:"GO:0031076"(embryonic camera-type eye development)|go:"GO:0031730"(CCR5 chemokine receptor binding)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0043086"(negative regulation of catalytic activity)|go:"GO:0043524"(negative regulation of neuron apoptotic process)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0048858"(cell projection morphogenesis)|go:"GO:0072089"(stem cell proliferation)|go:"GO:2000179"(positive regulation of neural precursor cell proliferation)|interpro:IPR018039|interpro:IPR031211|interpro:IPR039008|mint:P48681 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IEPf+MleiqNi+QAX57rAn4tYId09606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P47914 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-714039|uniprotkb:Q6IPY3|ensembl:ENSP00000418346|ensembl:ENSP00000418868|ensembl:ENSP00000420673|ensembl:ENSP00000294189|ensembl:ENSP00000417048|ensembl:ENSP00000418153|uniprotkb:B2R4M8|uniprotkb:A8K0H3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl29_human(display_long)|uniprotkb:Cell surface heparin-binding protein HIP(gene name synonym)|uniprotkb:RPL29(gene name)|psi-mi:RPL29(display_short)|uniprotkb:Large ribosomal subunit protein eL29(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000294189(transcript)|ensembl:ENST00000466397(transcript)|ensembl:ENST00000475248(transcript)|ensembl:ENST00000479017(transcript)|ensembl:ENST00000492277(transcript)|ensembl:ENST00000495383(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0007566"(embryo implantation)|go:"GO:0008201"(heparin binding)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0045296"(cadherin binding)|interpro:IPR002673(Ribosomal protein L29e)|mint:P47914|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|ensembl:ENSG00000162244(gene)|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_000983.1|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XZUSMDDzycAi6QEXYbljXaeVg0U9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P47756 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353595|uniprotkb:Q5U0L4|uniprotkb:Q8TB49|uniprotkb:Q9NUC4|uniprotkb:Q32Q68|ensembl:ENSP00000364284|ensembl:ENSP00000501528 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:capzb_human(display_long)|uniprotkb:CAPZB(gene name)|psi-mi:CAPZB(display_short)|uniprotkb:CapZ beta(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001193469.1|refseq:NP_004921.1|go:"GO:0045296"(cadherin binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0051490"(negative regulation of filopodium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071203"(WASH complex)|go:"GO:0097224"(sperm connecting piece)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0098686"(hippocampal mossy fiber to CA3 synapse)|interpro:IPR001698(F-actin capping protein, beta subunit)|interpro:IPR019771|interpro:IPR037282|interpro:IPR042276|interpro:IPR043175|mint:P47756|reactome:R-HSA-2132295|reactome:R-HSA-3371497|reactome:R-HSA-6807878|reactome:R-HSA-6811436|reactome:R-HSA-9013405|reactome:R-HSA-9035034|reactome:R-HSA-9662360|reactome:R-HSA-983231|ensembl:ENSG00000077549(gene)|ensembl:ENST00000375142(transcript)|ensembl:ENST00000674432(transcript)|go:"GO:0000902"(cell morphogenesis)|go:"GO:0003779"(actin binding)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005903"(brush border)|go:"GO:0007010"(cytoskeleton organization)|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0008290"(F-actin capping protein complex)|go:"GO:0010591"(regulation of lamellipodium assembly)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0022604"(regulation of cell morphogenesis)|go:"GO:0030017"(sarcomere)|go:"GO:0030027"(lamellipodium)|go:"GO:0030032"(lamellipodium assembly)|go:"GO:0030863"(cortical cytoskeleton)|refseq:NP_001269091.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qRXsrB2fLT1DMVIVRWKFYe4Aln49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P47755 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-762451|uniprotkb:B4DG50|ensembl:ENSP00000354947 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:caza2_human(display_long)|uniprotkb:CapZ alpha-2(gene name synonym)|uniprotkb:CAPZA2(gene name)|psi-mi:CAPZA2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006127.1|ensembl:ENSG00000198898(gene)|ensembl:ENST00000361183(transcript)|go:"GO:0005576"(extracellular region)|go:"GO:0005829"(cytosol)|go:"GO:0005903"(brush border)|go:"GO:0008290"(F-actin capping protein complex)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002189(F-actin capping protein, alpha subunit)|interpro:IPR017865|interpro:IPR037282|interpro:IPR042276|interpro:IPR042489|mint:P47755|reactome:R-HSA-2132295|reactome:R-HSA-3371497|reactome:R-HSA-6807878|reactome:R-HSA-6811436|reactome:R-HSA-879415|reactome:R-HSA-9662360|reactome:R-HSA-983231|go:"GO:0016020"(membrane) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7+0w8fJ0OowIwAC7/tdNqiGSepc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46977 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-719212|uniprotkb:Q86XU9|uniprotkb:Q8TE35|uniprotkb:Q8WUB4|ensembl:ENSP00000376472|ensembl:ENSP00000436962|ensembl:ENSP00000497336|uniprotkb:B4DJ24|uniprotkb:E9PNQ1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:stt3a_human(display_long)|uniprotkb:TMC(gene name synonym)|uniprotkb:B5(gene name synonym)|uniprotkb:Integral membrane protein 1(gene name synonym)|uniprotkb:Transmembrane protein TMC(gene name synonym)|uniprotkb:STT3A(gene name)|psi-mi:STT3A(display_short)|uniprotkb:ITM1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_689926.1|ensembl:ENSG00000134910(gene)|ensembl:ENST00000392708(transcript)|ensembl:ENST00000529196(transcript)|ensembl:ENST00000649491(transcript)|go:"GO:0004579"(dolichyl-diphosphooligosaccharide-protein glycotransferase activity)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0006487"(protein N-linked glycosylation)|go:"GO:0008250"(oligosaccharyltransferase complex)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0018279"(protein N-linked glycosylation via asparagine)|go:"GO:0035000"(oligosaccharyltransferase III complex)|go:"GO:0043686"(co-translational protein modification)|go:"GO:0043687"(post-translational protein modification)|go:"GO:0046872"(metal ion binding)|interpro:IPR003674(Oligosaccharyl transferase, STT3 subunit)|mint:P46977|rcsb pdb:6S7O|reactome:R-HSA-446203|reactome:R-HSA-9694548|refseq:XP_011541109.1|refseq:NP_001265432.1|refseq:NP_001265433.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:DS4CIkIc7Ib6qxOFDBQNVRmmytU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46940 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-297509|ensembl:ENSP00000268182|uniprotkb:A7MBM3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:iqga1_human(display_long)|uniprotkb:IQGAP1(gene name)|psi-mi:IQGAP1(display_short)|uniprotkb:KIAA0051(gene name synonym)|uniprotkb:p195(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000140575(gene)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005547"(phosphatidylinositol-3,4,5-trisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005874"(microtubule)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|ensembl:ENST00000268182(transcript)|go:"GO:0001726"(ruffle)|go:"GO:0005925"(focal adhesion)|go:"GO:0007165"(signal transduction)|go:"GO:0007173"(epidermal growth factor receptor signaling pathway)|go:"GO:0005078"(MAP-kinase scaffold activity)|go:"GO:0005095"(GTPase inhibitor activity)|go:"GO:0007346"(regulation of mitotic cell cycle)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0016477"(cell migration)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0030424"(axon)|go:"GO:0030426"(growth cone)|go:"GO:0030496"(midbody)|go:"GO:0031234"(extrinsic component of cytoplasmic side of plasma membrane)|go:"GO:0031267"(small GTPase binding)|go:"GO:0032956"(regulation of actin cytoskeleton organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0036057"(slit diaphragm)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0043005"(neuron projection)|go:"GO:0043087"(regulation of GTPase activity)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043410"(positive regulation of MAPK cascade)|go:"GO:0043539"(protein serine/threonine kinase activator activity)|go:"GO:0044548"(S100 protein binding)|go:"GO:0045121"(membrane raft)|go:"GO:0045296"(cadherin binding)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0051015"(actin filament binding)|go:"GO:0051019"(mitogen-activated protein kinase binding)|go:"GO:0051894"(positive regulation of focal adhesion assembly)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071277"(cellular response to calcium ion)|go:"GO:0071364"(cellular response to epidermal growth factor stimulus)|go:"GO:0072015"(glomerular visceral epithelial cell development)|go:"GO:1900006"(positive regulation of dendrite development)|go:"GO:1900086"(positive regulation of peptidyl-tyrosine autophosphorylation)|go:"GO:1903829"(positive regulation of protein localization)|go:"GO:1904754"(positive regulation of vascular associated smooth muscle cell migration)|go:"GO:1990138"(neuron projection extension)|go:"GO:1990776"(response to angiotensin)|interpro:IPR000048(IQ calmodulin-binding region)|go:"GO:0030667"(secretory granule membrane)|interpro:IPR000593(RasGAP protein, C-terminal)|interpro:IPR001202(WW/Rsp5/WWP)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR001936(Ras GTPase-activating protein)|interpro:IPR008936(Rho GTPase activation protein)|interpro:IPR023152|interpro:IPR027417|interpro:IPR036872|mint:P46940|rcsb pdb:1X0H|rcsb pdb:2RR8|rcsb pdb:3FAY|rcsb pdb:3I6X|rcsb pdb:5L0O|reactome:R-HSA-373753|reactome:R-HSA-381676|reactome:R-HSA-5626467|reactome:R-HSA-5674135|reactome:R-HSA-6798695|reactome:R-HSA-6802946|reactome:R-HSA-6802948|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-8980692|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013406|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9649948|reactome:R-HSA-9656223|refseq:NP_003861.1|dip:DIP-32597N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nXO2Z6Qn8EQGfziT8dnWz1pbK/w9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46821 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-764611|uniprotkb:A2BDK5|ensembl:ENSP00000296755 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:map1b_human(display_long)|uniprotkb:MAP1B(gene name)|psi-mi:MAP1B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005900.2|dip:DIP-33474N|ensembl:ENSG00000131711(gene)|ensembl:ENST00000296755(transcript)|go:"GO:0001578"(microtubule bundle formation)|go:"GO:0001750"(photoreceptor outer segment)|go:"GO:0001764"(neuron migration)|go:"GO:0003779"(actin binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005543"(phospholipid binding)|go:"GO:0005829"(cytosol)|go:"GO:0005874"(microtubule)|go:"GO:0005875"(microtubule associated complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0007026"(negative regulation of microtubule depolymerization)|go:"GO:0007409"(axonogenesis)|go:"GO:0007416"(synapse assembly)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0008017"(microtubule binding)|go:"GO:0009612"(response to mechanical stimulus)|go:"GO:0009743"(response to carbohydrate)|go:"GO:0009987"(cellular process)|go:"GO:0010035"(response to inorganic substance)|go:"GO:0014012"(peripheral nervous system axon regeneration)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016358"(dendrite development)|go:"GO:0021700"(developmental maturation)|go:"GO:0030424"(axon)|go:"GO:0030425"(dendrite)|go:"GO:0030426"(growth cone)|go:"GO:0031114"(regulation of microtubule depolymerization)|go:"GO:0031116"(positive regulation of microtubule polymerization)|go:"GO:0032355"(response to estradiol)|go:"GO:0032387"(negative regulation of intracellular transport)|go:"GO:0033189"(response to vitamin A)|go:"GO:0036477"(somatodendritic compartment)|go:"GO:0042493"|go:"GO:0043025"(neuronal cell body)|go:"GO:0043196"(varicosity)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0017085"(response to insecticide)|go:"GO:0045202"(synapse)|go:"GO:0045666"(positive regulation of neuron differentiation)|go:"GO:0045773"(positive regulation of axon extension)|go:"GO:0047497"(mitochondrion transport along microtubule)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048675"(axon extension)|go:"GO:0051915"(induction of synaptic plasticity by chemical substance)|go:"GO:0061162"(establishment of monopolar cell polarity)|go:"GO:0071363"(cellular response to growth factor stimulus)|go:"GO:0071375"(cellular response to peptide hormone stimulus)|go:"GO:0097440"(apical dendrite)|go:"GO:0097441"(basal dendrite)|go:"GO:0097457"(hippocampal mossy fiber)|interpro:IPR000102(Neuraxin/MAP1B repeat)|go:"GO:0044877"(protein-containing complex binding)|interpro:IPR027321|mint:P46821|interpro:IPR026074 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uSRzrWaYU/dmkItUkCK4zex+/TM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46783 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354442|uniprotkb:Q5TZC0|uniprotkb:B2R4E3|ensembl:ENSP00000481646|ensembl:ENSP00000494190|ensembl:ENSP00000494440|ensembl:ENSP00000497917 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs10_human(display_long)|uniprotkb:RPS10(gene name)|psi-mi:RPS10(display_short)|uniprotkb:Small ribosomal subunit protein eS10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001005.1|refseq:NP_001190174.1|refseq:NP_001191020.1|ensembl:ENSG00000124614(gene)|ensembl:ENST00000464218(transcript)|ensembl:ENST00000467531(transcript)|ensembl:ENST00000621356(transcript)|ensembl:ENST00000648437(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|interpro:IPR005326(Plectin/S10, N-terminal)|rcsb pdb:6G51|interpro:IPR036388|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|interpro:IPR037447|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|mint:P46783|rcsb pdb:4UG0|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:4V6X|rcsb pdb:6ZUO|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|rcsb pdb:5T2C|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GWUAJh7s0w/ar/SOpx0hiIJOr2c9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46782 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350569|uniprotkb:Q96BN0|uniprotkb:B2R4T2|ensembl:ENSP00000196551|ensembl:ENSP00000470114|ensembl:ENSP00000472985 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs5_human(display_long)|uniprotkb:RPS5(gene name)|psi-mi:RPS5(display_short)|uniprotkb:Small ribosomal subunit protein uS7(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001000.2|rcsb pdb:6OLZ|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6Z6M|rcsb pdb:6XA1|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6Y0G|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:5FLX|rcsb pdb:6OLG|rcsb pdb:6OLI|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-72706|ensembl:ENSG00000083845(gene)|ensembl:ENST00000196551(transcript)|ensembl:ENST00000596046(transcript)|ensembl:ENST00000601521(transcript)|go:"GO:0000028"(ribosomal small subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0006413"(translational initiation)|go:"GO:0006450"(regulation of translational fidelity)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000235(Ribosomal protein S7)|interpro:IPR005716(Ribosomal protein S7, eukaryotic/archaeal)|interpro:IPR020606|interpro:IPR023798|interpro:IPR036823|mint:P46782|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|go:"GO:0003735"(structural constituent of ribosome)|rcsb pdb:5AJ0|reactome:R-HSA-72702 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:SoCJdf2InngZZtlz5qD1k5CEfEo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46781 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351206|uniprotkb:Q4QRK7|uniprotkb:Q9BVZ0|ensembl:ENSP00000302896|ensembl:ENSP00000375632|ensembl:ENSP00000375633|ensembl:ENSP00000478449|ensembl:ENSP00000479917|ensembl:ENSP00000480135|ensembl:ENSP00000480662|ensembl:ENSP00000481194|ensembl:ENSP00000481553|ensembl:ENSP00000481655|ensembl:ENSP00000481764|ensembl:ENSP00000481822|ensembl:ENSP00000482023|ensembl:ENSP00000482274|ensembl:ENSP00000482338|ensembl:ENSP00000482475|ensembl:ENSP00000483179|ensembl:ENSP00000484394|uniprotkb:A9C4C1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs9_human(display_long)|uniprotkb:RPS9(gene name)|psi-mi:RPS9(display_short)|uniprotkb:Small ribosomal subunit protein uS4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001004.2|refseq:NP_001308630.1|refseq:NP_001308631.1|refseq:NP_001308633.1|ensembl:ENSG00000170889(gene)|ensembl:ENSG00000274005(gene)|ensembl:ENSG00000274626(gene)|ensembl:ENSG00000274646(gene)|ensembl:ENSG00000274950(gene)|ensembl:ENSG00000275323(gene)|ensembl:ENSG00000277079(gene)|ensembl:ENSG00000277359(gene)|ensembl:ENSG00000278081(gene)|ensembl:ENSG00000278270(gene)|ensembl:ENST00000302907(transcript)|ensembl:ENST00000391752(transcript)|ensembl:ENST00000391753(transcript)|ensembl:ENST00000610826(transcript)|ensembl:ENST00000610953(transcript)|ensembl:ENST00000611921(transcript)|ensembl:ENST00000614737(transcript)|ensembl:ENST00000615346(transcript)|ensembl:ENST00000616082(transcript)|ensembl:ENST00000616536(transcript)|ensembl:ENST00000616839(transcript)|ensembl:ENST00000616877(transcript)|ensembl:ENST00000616928(transcript)|ensembl:ENST00000617291(transcript)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|ensembl:ENST00000618751(transcript)|go:"GO:0005829"(cytosol)|ensembl:ENST00000619229(transcript)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|ensembl:ENST00000620720(transcript)|ensembl:ENST00000620940(transcript)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0045182"(translation regulator activity)|go:"GO:0045202"(synapse)|go:"GO:0045903"(positive regulation of translational fidelity)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:1990932"(5.8S rRNA binding)|interpro:IPR001912(Ribosomal protein S4)|interpro:IPR002942(RNA-binding S4)|interpro:IPR005710(Ribosomal protein S4/S9, eukaryotic/archaeal)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|interpro:IPR018079|interpro:IPR022801|interpro:IPR036986|mint:P46781|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|go:"GO:0005634"(nucleus)|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|go:"GO:0005654"(nucleoplasm)|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PGNjkKMs8bMMOSOz2AQvwuCvO1A9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46778 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350634|uniprotkb:Q16699|ensembl:ENSP00000346027|ensembl:ENSP00000351021|ensembl:ENSP00000370569|ensembl:ENSP00000370574 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl21_human(display_long)|uniprotkb:RPL21(gene name)|psi-mi:RPL21(display_short)|uniprotkb:Large ribosomal subunit protein eL21(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:6LU8|refseq:NP_000973.2|ensembl:ENSG00000122026(gene)|ensembl:ENST00000272274(transcript)|ensembl:ENST00000311549(transcript)|ensembl:ENST00000319826(transcript)|ensembl:ENST00000326092(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|interpro:IPR001147(Ribosomal protein L21e)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR018259|interpro:IPR036948|mint:P46778|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6OLE|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:UCth+WL9Oj1Y9I5m4i/9X0a5WHk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46777 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358018|ensembl:ENSP00000359345|uniprotkb:Q53HH6|uniprotkb:Q9H3F4|uniprotkb:Q32LZ3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl5_human(display_long)|uniprotkb:RPL5(gene name)|psi-mi:RPL5(display_short)|uniprotkb:Large ribosomal subunit protein uL18(gene name synonym)|uniprotkb:MSTP030(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042273"(ribosomal large subunit biogenesis)|go:"GO:0045202"(synapse)|ensembl:ENSG00000122406(gene)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0070062"(extracellular exosome)|go:"GO:1901796"(regulation of signal transduction by p53 class mediator)|ensembl:ENST00000370321(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0008097"(5S rRNA binding)|go:"GO:0010628"(positive regulation of gene expression)|refseq:NP_000960.2|dip:DIP-31152N|go:"GO:1904667"(negative regulation of ubiquitin protein ligase activity)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:1990948"(ubiquitin ligase inhibitor activity)|go:"GO:2000059"(negative regulation of ubiquitin-dependent protein catabolic process)|go:"GO:2000435"(negative regulation of protein neddylation)|interpro:IPR005485(Ribosomal protein L5, eukaryotic)|interpro:IPR025607|mint:P46777|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rs+zAc+IPrEqv7DHNcy2GIkQkfY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46776 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350581|uniprotkb:B2R4B3|ensembl:ENSP00000346015 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl27a_human(display_long)|uniprotkb:RPL27A(gene name)|psi-mi:RPL27A(display_short)|uniprotkb:Large ribosomal subunit protein uL15(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000981.1|ensembl:ENSG00000166441(gene)|ensembl:ENST00000314138(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|interpro:IPR001196(Ribosomal protein L15)|interpro:IPR021131|interpro:IPR027386|interpro:IPR030878|interpro:IPR036227|mint:P46776|rcsb pdb:4BXF|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-72706|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6IP6|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6OM7|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|rcsb pdb:6IP5|dip:DIP-33121N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:tUezMQBw+SWmLYq8M0pkLCF8vO89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P40429 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-720205|uniprotkb:A8K505|ensembl:ENSP00000375730 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl13a_human(display_long)|uniprotkb:23 kDa highly basic protein(gene name synonym)|uniprotkb:RPL13A(gene name)|psi-mi:RPL13A(display_short)|uniprotkb:Large ribosomal subunit protein uL13(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036555.1|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|rcsb pdb:6OLF|ensembl:ENSG00000142541(gene)|ensembl:ENST00000391857(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0015934"(large ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0097452"(GAIT complex)|go:"GO:1901194"(negative regulation of formation of translation preinitiation complex)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR005755(Ribosomal protein L13, eukaryotic/archaeal)|interpro:IPR005822(Ribosomal protein L13)|interpro:IPR023563|interpro:IPR036899|mint:P40429|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|refseq:NP_001257420.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:pcKDTEBZXxtm1MAH+4nv0p3PqFs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P39023 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1056348|uniprotkb:Q15548|uniprotkb:Q5I0G0|uniprotkb:B2RDV9|ensembl:ENSP00000346001 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl3_human(display_long)|uniprotkb:RPL3(gene name)|psi-mi:RPL3(display_short)|uniprotkb:HIV-1 TAR RNA-binding protein B(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL3(gene name synonym)|uniprotkb:OK/SW-cl.32(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000958.1|ensembl:ENSG00000100316(gene)|ensembl:ENST00000216146(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0032991"(protein-containing complex)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071353"(cellular response to interleukin-4)|interpro:IPR000597(Ribosomal protein L3)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR019926|mint:P39023|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:j3MVAYfO/bziJBPmH4zCFqFskZ89606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P39019 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354451|ensembl:ENSP00000469228|ensembl:ENSP00000470004|ensembl:ENSP00000470972 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs19_human(display_long)|uniprotkb:RPS19(gene name)|psi-mi:RPS19(display_short)|uniprotkb:Small ribosomal subunit protein eS19(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001013.1|ensembl:ENSG00000105372(gene)|ensembl:ENST00000593863(transcript)|ensembl:ENST00000598742(transcript)|go:"GO:0000028"(ribosomal small subunit assembly)|go:"GO:0000462"("maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0002548"(monocyte chemotaxis)|go:"GO:0003723"(RNA binding)|ensembl:ENST00000600467(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0007000"(nucleolus organization)|go:"GO:0009991"(response to extracellular stimulus)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0017134"(fibroblast growth factor binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0030490"(maturation of SSU-rRNA)|go:"GO:0031640"(killing of cells of another organism)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042802"(identical protein binding)|go:"GO:0050829"(defense response to Gram-negative bacterium)|go:"GO:0051272"(positive regulation of cellular component movement)|go:"GO:0060265"(positive regulation of respiratory burst involved in inflammatory response)|go:"GO:0060266"(negative regulation of respiratory burst involved in inflammatory response)|go:"GO:0061844"(antimicrobial humoral immune response mediated by antimicrobial peptide)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001266(Ribosomal protein S19e)|interpro:IPR018277|interpro:IPR036388|interpro:IPR036390|mint:P39019|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_001308412.1|refseq:NP_001308413.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3YqdJJJG+2nqoBf3PLu1fs7pVkY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P37275 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2849734|uniprotkb:Q12924|uniprotkb:Q5T968|uniprotkb:Q13800|uniprotkb:Q2KJ05|uniprotkb:B4DJV0|uniprotkb:B4DUW9|uniprotkb:E9PCM7|uniprotkb:F5H4I8|uniprotkb:Q5VZ84|uniprotkb:Q8NB68|intact:EBI-11153310|ensembl:ENSP00000319248 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zeb1_human(display_long)|uniprotkb:ZEB1(gene name)|psi-mi:ZEB1(display_short)|uniprotkb:AREB6(gene name synonym)|uniprotkb:TCF8(gene name synonym)|uniprotkb:NIL-2-A zinc finger protein(gene name synonym)|uniprotkb:Negative regulator of IL2(gene name synonym)|uniprotkb:Transcription factor 8(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001121600.1|refseq:NP_001167565.1|refseq:NP_001167566.1|refseq:NP_110378.3|refseq:NP_001167564.1|refseq:NP_001167567.1|ensembl:ENSG00000148516(gene)|ensembl:ENST00000320985(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007399"(nervous system development)|go:"GO:0008270"(zinc ion binding)|go:"GO:0030154"(cell differentiation)|go:"GO:0045602"(negative regulation of endothelial cell differentiation)|go:"GO:0045666"(positive regulation of neuron differentiation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0048856"(anatomical structure development)|go:"GO:0070888"(E-box binding)|interpro:IPR001356(Homeobox)|interpro:IPR008598(Drought induced 19)|interpro:IPR009057(Homeodomain-like)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|rcsb pdb:2E19|reactome:R-HSA-6785807|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2QwbT74tbgA6Jec85fGMRYg0EBI9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P36578 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-348313|ensembl:ENSP00000311430|uniprotkb:P39029|uniprotkb:Q4VBR0|uniprotkb:Q969Z9|uniprotkb:A8K502 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl4_human(display_long)|uniprotkb:RPL4(gene name)|psi-mi:RPL4(display_short)|uniprotkb:RPL1(gene name synonym)|uniprotkb:60S ribosomal protein L1(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000174444(gene)|ensembl:ENST00000307961(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR002136(Ribosomal protein L4/L1e)|interpro:IPR013000(Ribosomal protein L4/L1e, eukaryotic/archaeal, conserved site)|interpro:IPR025755|mint:P36578|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A8L|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|interpro:IPR023574|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6OM0|refseq:NP_000959.2|dip:DIP-27559N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:34il/jyrW0Dqj0eA8GBFgUk05XU9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35613 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-750709|uniprotkb:Q7Z796|uniprotkb:Q8IZL7|intact:EBI-2553051|uniprotkb:A6NJW1|uniprotkb:D3YLG5|ensembl:ENSP00000333769 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:basi_human(display_long)|uniprotkb:Leukocyte activation antigen M6(gene name synonym)|uniprotkb:Collagenase stimulatory factor(gene name synonym)|uniprotkb:Extracellular matrix metalloproteinase inducer(gene name synonym)|uniprotkb:5F7(gene name synonym)|uniprotkb:Tumor cell-derived collagenase stimulatory factor(gene name synonym)|uniprotkb:OK blood group antigen(gene name synonym)|uniprotkb:BSG(gene name)|psi-mi:BSG(display_short)|uniprotkb:UNQ6505/PRO21383(orf name)|uniprotkb:Hepatoma-associated antigen(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001719.2|refseq:NP_940991.1|refseq:NP_940993.1|refseq:NP_001309172.1|refseq:NP_940992.1|refseq:XP_016882662.1|dip:DIP-50310N|ensembl:ENSG00000172270(gene)|ensembl:ENST00000333511(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001525"(angiogenesis)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001750"(photoreceptor outer segment)|go:"GO:0001917"(photoreceptor inner segment)|go:"GO:0002080"(acrosomal membrane)|go:"GO:0003407"(neural retina development)|go:"GO:0005537"(mannose binding)|go:"GO:0005739"(mitochondrion)|go:"GO:0005768"(endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007156"(homophilic cell adhesion via plasma membrane adhesion molecules)|go:"GO:0007166"(cell surface receptor signaling pathway)|go:"GO:0007411"(axon guidance)|go:"GO:0007566"(embryo implantation)|go:"GO:0010575"(positive regulation of vascular endothelial growth factor production)|go:"GO:0010595"(positive regulation of endothelial cell migration)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0030424"(axon)|go:"GO:0030593"(neutrophil chemotaxis)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042383"(sarcolemma)|go:"GO:0042470"(melanosome)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043434"(response to peptide hormone)|go:"GO:0045121"(membrane raft)|go:"GO:0045296"(cadherin binding)|go:"GO:0045494"(photoreceptor cell maintenance)|go:"GO:0046598"(positive regulation of viral entry into host cell)|go:"GO:0046689"(response to mercury ion)|go:"GO:0046697"(decidualization)|go:"GO:0051591"(response to cAMP)|go:"GO:0061154"(endothelial tube morphogenesis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070593"(dendrite self-avoidance)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0098632"(cell-cell adhesion mediator activity)|go:"GO:1904466"(positive regulation of matrix metallopeptidase secretion)|interpro:IPR003598(Immunoglobulin subtype 2)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR043204|interpro:IPR044157|mint:P35613|rcsb pdb:3B5H|rcsb pdb:3I84|rcsb pdb:3I85|rcsb pdb:3QQN|rcsb pdb:4U0Q|rcsb pdb:5X0T|rcsb pdb:5XF0|rcsb pdb:6LYY|rcsb pdb:6LZ0|rcsb pdb:7CKO|rcsb pdb:7CKR|rcsb pdb:7DA5|reactome:R-HSA-1474228|reactome:R-HSA-210991|reactome:R-HSA-216083|reactome:R-HSA-433692|reactome:R-HSA-5619070|reactome:R-HSA-70268|rcsb pdb:3QR2 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:jVbDR+TKBzTjXoxR4At6XQg59ZA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35579 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350338|uniprotkb:O60805|ensembl:ENSP00000216181|uniprotkb:Q86T83|intact:EBI-1054343|uniprotkb:A8K6E4|uniprotkb:Q60FE2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myh9_human(display_long)|uniprotkb:MYH9(gene name)|psi-mi:MYH9(display_short)|uniprotkb:Myosin heavy chain 9(gene name synonym)|uniprotkb:Myosin heavy chain, non-muscle IIa(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain IIa(gene name synonym)|uniprotkb:Cellular myosin heavy chain, type A(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002464.1|ensembl:ENSG00000100345(gene)|ensembl:ENST00000216181(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0000212"(meiotic spindle organization)|go:"GO:0001525"(angiogenesis)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0001725"(stress fiber)|go:"GO:0001726"(ruffle)|go:"GO:0001768"(establishment of T cell polarity)|go:"GO:0001772"(immunological synapse)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0001931"(uropod)|go:"GO:0003723"(RNA binding)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005819"(spindle)|go:"GO:0005826"(actomyosin contractile ring)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0006509"(membrane protein ectodomain proteolysis)|go:"GO:0006911"(phagocytosis, engulfment)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0007520"(myoblast fusion)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0009898"(cytoplasmic side of plasma membrane)|go:"GO:0015031"(protein transport)|refseq:XP_011528499.1|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016460"(myosin II complex)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030220"(platelet formation)|go:"GO:0030224"(monocyte differentiation)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0031252"(cell leading edge)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0032154"(cleavage furrow)|go:"GO:0032418"(lysosome localization)|go:"GO:0032506"(cytokinetic process)|go:"GO:0032796"(uropod organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042641"(actomyosin)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043495"(protein-membrane adaptor activity)|go:"GO:0043531"(ADP binding)|go:"GO:0043534"(blood vessel endothelial cell migration)|go:"GO:0045055"(regulated exocytosis)|go:"GO:0045296"(cadherin binding)|go:"GO:0050900"(leukocyte migration)|go:"GO:0051015"(actin filament binding)|go:"GO:0051295"(establishment of meiotic spindle localization)|go:"GO:0060471"(cortical granule exocytosis)|go:"GO:0060473"(cortical granule)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0097513"(myosin II filament)|go:"GO:1903919"(negative regulation of actin filament severing)|rcsb pdb:4CFR|rcsb pdb:4ETO|reactome:R-HSA-1445148|reactome:R-HSA-2029482|reactome:R-HSA-3928663|reactome:R-HSA-416572|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9662834|reactome:R-HSA-9664422|go:"GO:1903923"(positive regulation of protein processing in phagocytic vesicle)|go:"GO:1905684"(regulation of plasma membrane repair)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002928(Myosin tail)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR008989(Myosin S1 fragment, N-terminal)|interpro:IPR027417|interpro:IPR036305|interpro:IPR036961|mint:P35579|rcsb pdb:2LNK|rcsb pdb:3ZWH|rcsb pdb:4CFQ|refseq:XP_016884292.1|refseq:XP_016884293.1|refseq:XP_016884294.1|refseq:XP_016884295.1|dip:DIP-33103N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fSOtpFpr8PSnAG5UdAr/khwkzJs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35268 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354533|intact:EBI-1055963|uniprotkb:Q6IBD1|uniprotkb:B2R495|ensembl:ENSP00000346088 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl22_human(display_long)|uniprotkb:RPL22(gene name)|psi-mi:RPL22(display_short)|uniprotkb:Heparin-binding protein HBp15(gene name synonym)|uniprotkb:Epstein-Barr virus small RNA-associated protein(gene name synonym)|uniprotkb:EBER-associated protein(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL22(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000974.1|ensembl:ENSG00000116251(gene)|ensembl:ENST00000234875(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0008201"(heparin binding)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042802"(identical protein binding)|go:"GO:0045182"(translation regulator activity)|go:"GO:0046632"(alpha-beta T cell differentiation)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098793"(presynapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099577"(regulation of translation at presynapse, modulating synaptic transmission)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR002671(Ribosomal protein L22e)|interpro:IPR038526|mint:P35268|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|reactome:R-HSA-72706|rcsb pdb:6Z6L|rcsb pdb:6Z6M|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0TVillnqDkHmdTwxIedAJCVAdzY9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35240 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1014472|uniprotkb:O95683|uniprotkb:Q8WUJ2|uniprotkb:Q969N0|uniprotkb:Q969Q3|uniprotkb:Q96T30|uniprotkb:Q96T31|uniprotkb:Q96T32|uniprotkb:Q96T33|uniprotkb:Q9BTW3|uniprotkb:Q9UNG9|uniprotkb:Q9UNH3|uniprotkb:Q9UNH4|ensembl:ENSP00000344666 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:merl_human(display_long)|uniprotkb:Moesin-ezrin-radixin-like protein(gene name synonym)|uniprotkb:Neurofibromin-2(gene name synonym)|uniprotkb:Schwannomin(gene name synonym)|uniprotkb:Schwannomerlin(gene name synonym)|uniprotkb:NF2(gene name)|psi-mi:NF2(display_short)|uniprotkb:SCH(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000259.1|refseq:NP_057502.2|refseq:NP_861546.1|refseq:NP_861966.1|refseq:NP_861967.1|refseq:NP_861968.1|refseq:NP_861969.1|refseq:NP_861970.1|refseq:NP_861971.1|ensembl:ENSG00000186575(gene)|ensembl:ENST00000338641(transcript)|go:"GO:0001707"(mesoderm formation)|go:"GO:0001953"(negative regulation of cell-matrix adhesion)|go:"GO:0003779"(actin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005769"(early endosome)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0006469"(negative regulation of protein kinase activity)|go:"GO:0007398"(ectoderm development)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0014010"(Schwann cell proliferation)|go:"GO:0014013"(regulation of gliogenesis)|go:"GO:0016020"(membrane)|go:"GO:0021766"(hippocampus development)|go:"GO:0022408"(negative regulation of cell-cell adhesion)|go:"GO:0030027"(lamellipodium)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0030336"(negative regulation of cell migration)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031527"(filopodium membrane)|go:"GO:0031647"(regulation of protein stability)|go:"GO:0032154"(cleavage furrow)|go:"GO:0032587"(ruffle membrane)|go:"GO:0035330"(regulation of hippo signaling)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0042532"(negative regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043005"(neuron projection)|go:"GO:0043409"(negative regulation of MAPK cascade)|go:"GO:0044297"(cell body)|go:"GO:0045177"(apical part of cell)|go:"GO:0045216"(cell-cell junction organization)|go:"GO:0045597"(positive regulation of cell differentiation)|go:"GO:0046426"(negative regulation of receptor signaling pathway via JAK-STAT)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051496"(positive regulation of stress fiber assembly)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0070306"(lens fiber cell differentiation)|go:"GO:0072091"(regulation of stem cell proliferation)|go:"GO:1900180"(regulation of protein localization to nucleus)|go:"GO:2000177"(regulation of neural precursor cell proliferation)|interpro:IPR000299(Band 4.1, N-terminal)|interpro:IPR000798(Ezrin/radixin/moesin ERM)|interpro:IPR008954(Moesin)|interpro:IPR011174(Ezrin/radixin/moesin)|interpro:IPR011259(Ezrin/radixin/moesin, C-terminal)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR014352(FERM/acyl-CoA-binding protein, 3-helical bundle)|interpro:IPR018979|interpro:IPR018980|interpro:IPR019747|interpro:IPR019748|interpro:IPR019749|interpro:IPR029071|interpro:IPR035963|interpro:IPR041789|mint:P35240|rcsb pdb:1H4R|rcsb pdb:3U8Z|rcsb pdb:4ZRI|rcsb pdb:4ZRJ|rcsb pdb:6CDS|reactome:R-HSA-2029482|reactome:R-HSA-5627123|dip:DIP-35389N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YyzGKX6SmAvbiIgejNTvu/64uXc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P33778 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357986|uniprotkb:Q4KN36|ensembl:ENSP00000482674 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2b1b_human(display_long)|uniprotkb:H2BC3(gene name)|psi-mi:H2BC3(display_short)|uniprotkb:H2B-clustered histone 3(gene name synonym)|uniprotkb:H2BFF(gene name synonym)|uniprotkb:HIST1H2BB(gene name synonym)|uniprotkb:Histone H2B.1(gene name synonym)|uniprotkb:Histone H2B.f(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_066406.1|dip:DIP-47505N|ensembl:ENSG00000276410(gene)|ensembl:ENST00000615966(transcript)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0046982"(protein heterodimerization activity)|interpro:IPR000558(Histone H2B)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|mint:P33778|rcsb pdb:3X1S|rcsb pdb:3X1U|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214815|reactome:R-HSA-3214847|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-5689880|reactome:R-HSA-5693565|reactome:R-HSA-5693571|reactome:R-HSA-5693607|reactome:R-HSA-606279|reactome:R-HSA-69473|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8866654|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9609690|reactome:R-HSA-9610379|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-977225 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:l15lrchv4onuihbdZ+yWJQd35Ss9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P32969 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358122|ensembl:ENSP00000346022|ensembl:ENSP00000400467|ensembl:ENSP00000494697 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl9_human(display_long)|uniprotkb:RPL9(gene name)|psi-mi:RPL9(display_short)|uniprotkb:RPL9P7(gene name)|psi-mi:RPL9P7(display_short)|uniprotkb:RPL9P8(gene name)|psi-mi:RPL9P8(display_short)|uniprotkb:RPL9P9(gene name)|psi-mi:RPL9P9(display_short)|uniprotkb:Large ribosomal subunit protein uL6(gene name synonym)|uniprotkb:OK/SW-cl.103(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000652.2|refseq:NP_001020092.1|ensembl:ENSG00000163682(gene)|ensembl:ENST00000295955(transcript)|ensembl:ENST00000449470(transcript)|ensembl:ENST00000645496(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|interpro:IPR000702(Ribosomal protein L6)|interpro:IPR002359(Ribosomal protein L6, conserved site-2)|interpro:IPR020040|interpro:IPR036789|mint:P32969|rcsb pdb:2CQL|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:v0thFydYo0aEqBblJoqQX8b7JCA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P30050 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352743|uniprotkb:Q6PB27|uniprotkb:Q5VVV2|ensembl:ENSP00000354739 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl12_human(display_long)|uniprotkb:RPL12(gene name)|psi-mi:RPL12(display_short)|uniprotkb:Large ribosomal subunit protein uL11(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000967.1|ensembl:ENSG00000197958(gene)|ensembl:ENST00000361436(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015934"(large ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070180"(large ribosomal subunit rRNA binding)|interpro:IPR000911(Ribosomal protein L11)|interpro:IPR020783|interpro:IPR020784|interpro:IPR020785|interpro:IPR036769|interpro:IPR036796|mint:P30050|rcsb pdb:4V6X|rcsb pdb:5A8L|rcsb pdb:5AJ0|rcsb pdb:6OLG|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:TNPEtl60cILofaPzUznvZiw6D7E9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P27824 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355947|uniprotkb:D3DWQ3|uniprotkb:B2R5V8|ensembl:ENSP00000421434|ensembl:ENSP00000421813|ensembl:ENSP00000424063|ensembl:ENSP00000424745|ensembl:ENSP00000491760|ensembl:ENSP00000492372|ensembl:ENSP00000492868|ensembl:ENSP00000505013|ensembl:ENSP00000505202|ensembl:ENSP00000505526|ensembl:ENSP00000505960|ensembl:ENSP00000506003|ensembl:ENSP00000506021|ensembl:ENSP00000506061|ensembl:ENSP00000506078|ensembl:ENSP00000506509|ensembl:ENSP00000506568|ensembl:ENSP00000506583|ensembl:ENSP00000247461|ensembl:ENSP00000391646|intact:EBI-9513217|uniprotkb:B4DGP8|uniprotkb:B4E2T8|uniprotkb:D6R9K3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:calx_human(display_long)|uniprotkb:CANX(gene name)|psi-mi:CANX(display_short)|uniprotkb:Major histocompatibility complex class I antigen-binding protein p88(gene name synonym)|uniprotkb:p90(gene name synonym)|uniprotkb:IP90(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001019820.1|refseq:NP_001737.1|refseq:XP_011532967.1|go:"GO:0099059"(integral component of presynaptic active zone membrane)|interpro:IPR001580(Calreticulin/calnexin)|interpro:IPR009033(Calreticulin/calnexin, P)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR018124|mint:P27824|reactome:R-HSA-168316|reactome:R-HSA-2132295|reactome:R-HSA-8984722|reactome:R-HSA-901042|reactome:R-HSA-9020956|reactome:R-HSA-9683686|reactome:R-HSA-9694548|reactome:R-HSA-983170|ensembl:ENST00000452673(transcript)|ensembl:ENST00000502296(transcript)|ensembl:ENST00000504734(transcript)|ensembl:ENST00000509563(transcript)|ensembl:ENST00000513246(transcript)|ensembl:ENST00000638425(transcript)|ensembl:ENST00000638706(transcript)|ensembl:ENST00000639938(transcript)|ensembl:ENST00000680013(transcript)|ensembl:ENST00000680042(transcript)|ensembl:ENST00000680092(transcript)|ensembl:ENST00000680618(transcript)|ensembl:ENST00000681072(transcript)|ensembl:ENST00000681168(transcript)|ensembl:ENST00000681476(transcript)|ensembl:ENST00000681674(transcript)|ensembl:ENST00000681712(transcript)|ensembl:ENST00000681733(transcript)|ensembl:ENST00000681903(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005790"(smooth endoplasmic reticulum)|ensembl:ENST00000247461(transcript)|go:"GO:0005840"(ribosome)|go:"GO:0006457"(protein folding)|go:"GO:0007568"(aging)|go:"GO:0009306"(protein secretion)|go:"GO:0016020"(membrane)|go:"GO:0019082"(viral protein processing)|go:"GO:0030246"(carbohydrate binding)|go:"GO:0030424"(axon)|go:"GO:0030968"(endoplasmic reticulum unfolded protein response)|go:"GO:0032839"(dendrite cytoplasm)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034185"(apolipoprotein binding)|go:"GO:0034975"(protein folding in endoplasmic reticulum)|go:"GO:0035255"(ionotropic glutamate receptor binding)|go:"GO:0042470"(melanosome)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0044233"(mitochondria-associated endoplasmic reticulum membrane)|go:"GO:0044322"(endoplasmic reticulum quality control compartment)|go:"GO:0048488"(synaptic vesicle endocytosis)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071556"(integral component of lumenal side of endoplasmic reticulum membrane)|go:"GO:0072583"(clathrin-dependent endocytosis)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099055"(integral component of postsynaptic membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|ensembl:ENSG00000127022(gene)|ensembl:ENSG00000283777(gene)|dip:DIP-457N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Vy9HZjl19IXifyFpueW0LXi9ENk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P27635 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352398|uniprotkb:A3KQT0|uniprotkb:Q16470|uniprotkb:Q2HXT7|uniprotkb:Q53FH7|uniprotkb:Q6FGN8|uniprotkb:Q8TDA5|intact:EBI-3046680|uniprotkb:D3DWW6|ensembl:ENSP00000341730|ensembl:ENSP00000358832 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl10_human(display_long)|uniprotkb:RPL10(gene name)|psi-mi:RPL10(display_short)|uniprotkb:QM(gene name synonym)|uniprotkb:Protein QM(gene name synonym)|uniprotkb:Tumor suppressor QM(gene name synonym)|uniprotkb:Laminin receptor homolog(gene name synonym)|uniprotkb:DXS648E(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL16(gene name synonym)|uniprotkb:Ribosomal protein L10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001243506.2|refseq:NP_001243509.2|refseq:NP_001290553.1|refseq:NP_001290554.1|refseq:NP_001290555.1|ensembl:ENSG00000147403(gene)|ensembl:ENST00000344746(transcript)|ensembl:ENST00000369817(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0006417"(regulation of translation)|refseq:NP_006004.3|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0032991"(protein-containing complex)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0045182"(translation regulator activity)|go:"GO:1990403"(embryonic brain development)|interpro:IPR001197(Ribosomal protein L10e)|interpro:IPR016180(Ribosomal protein L10e/L16)|interpro:IPR018255|interpro:IPR036920|mint:P27635|rcsb pdb:2PA2|rcsb pdb:5AJ0|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6W6L|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|go:"GO:0016020"(membrane)|reactome:R-HSA-975957|dip:DIP-1133N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:wJnBcv39yvVz2CaZq8UKgxIpJeE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P27449 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-721179|uniprotkb:Q6FH26|ensembl:ENSP00000329757 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:vatl_human(display_long)|uniprotkb:ATP6V0C(gene name)|psi-mi:ATP6V0C(display_short)|uniprotkb:ATP6C(gene name synonym)|uniprotkb:ATP6L(gene name synonym)|uniprotkb:ATPL(gene name synonym)|uniprotkb:Vacuolar proton pump 16 kDa proteolipid subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001185498.1|refseq:NP_001685.1|ensembl:ENSG00000185883(gene)|ensembl:ENST00000330398(transcript)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0010008"(endosome membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016241"(regulation of macroautophagy)|go:"GO:0030177"(positive regulation of Wnt signaling pathway)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0033179"(proton-transporting V-type ATPase, V0 domain)|go:"GO:0035577"(azurophil granule membrane)|go:"GO:0046933"(proton-transporting ATP synthase activity, rotational mechanism)|go:"GO:0046961"(proton-transporting ATPase activity, rotational mechanism)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|go:"GO:1902600"(proton transmembrane transport)|interpro:IPR000245(ATPase, V0 complex, proteolipid subunit C,)|interpro:IPR002379(ATPase, F0/V0 complex, subunit C)|interpro:IPR011555(ATPase, V0 complex, proteolipid subunit C, eukaryotic)|interpro:IPR035921|mint:P27449|rcsb pdb:6WLW|rcsb pdb:6WM2|rcsb pdb:6WM3|rcsb pdb:6WM4|reactome:R-HSA-1222556|reactome:R-HSA-6798695|reactome:R-HSA-77387|reactome:R-HSA-917977|reactome:R-HSA-9639288|reactome:R-HSA-983712 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:SENUYPVXYqkUWD9OawRSREg3SZk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P27348 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-359854|uniprotkb:Q567U5|uniprotkb:Q5TZU8|uniprotkb:Q9UP48|uniprotkb:D6W4Z5|ensembl:ENSP00000238081|ensembl:ENSP00000371267 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:1433t_human(display_long)|uniprotkb:YWHAQ(gene name)|psi-mi:YWHAQ(display_short)|uniprotkb:14-3-3 protein tau(gene name synonym)|uniprotkb:14-3-3 protein T-cell(gene name synonym)|uniprotkb:Protein HS1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006817.1|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0021762"(substantia nigra development)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034766"(negative regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0045202"(synapse)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0047485"(protein N-terminus binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071889"(14-3-3 protein binding)|interpro:IPR000308(14-3-3 protein)|interpro:IPR023409|interpro:IPR023410|interpro:IPR036815|interpro:IPR042584|mint:P27348|rcsb pdb:2BTP|rcsb pdb:5IQP|rcsb pdb:6BCR|rcsb pdb:6BD2|rcsb pdb:6BQT|rcsb pdb:6KZG|rcsb pdb:6KZH|reactome:R-HSA-111447|reactome:R-HSA-1445148|reactome:R-HSA-5625740|reactome:R-HSA-5628897|reactome:R-HSA-75035|reactome:R-HSA-9614399|ensembl:ENSG00000134308(gene)|ensembl:ENST00000238081(transcript)|ensembl:ENST00000381844(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006605"(protein targeting)|go:"GO:0007264"(small GTPase mediated signal transduction)|go:"GO:0008022"(protein C-terminus binding)|dip:DIP-27584N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3I07h/wy8qcwUJqvO1RA76qnW5U9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P26006 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2550768|uniprotkb:B7ZM80|ensembl:ENSP00000315190|uniprotkb:A7E246|uniprotkb:B9EGQ1|uniprotkb:D3DTX4|uniprotkb:D3DTX5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ita3_human(display_long)|uniprotkb:ITGA3(gene name)|psi-mi:ITGA3(display_short)|uniprotkb:MSK18(gene name synonym)|uniprotkb:Galactoprotein B3(gene name synonym)|uniprotkb:VLA-3 subunit alpha(gene name synonym)|uniprotkb:FRP-2(gene name synonym)|uniprotkb:CD49 antigen-like family member C(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0042493"|go:"GO:0043235"(receptor complex)|go:"GO:0043236"(laminin binding)|go:"GO:0043588"(skin development)|go:"GO:0046872"(metal ion binding)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0048333"(mesodermal cell differentiation)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0060076"(excitatory synapse)|go:"GO:0060135"(maternal process involved in female pregnancy)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071944"(cell periphery)|go:"GO:0072006"(nephron development)|go:"GO:0097060"(synaptic membrane)|go:"GO:0097062"(dendritic spine maintenance)|go:"GO:0097205"(renal filtration)|go:"GO:0035640"(exploration behavior)|go:"GO:1990812"(growth cone filopodium)|interpro:IPR000413(Integrins alpha chain)|interpro:IPR013517(FG-GAP)|interpro:IPR013519(Integrin alpha beta-propellor)|interpro:IPR013649(Integrin alpha-2)|interpro:IPR018184|interpro:IPR028994|interpro:IPR032695|mint:P26006|reactome:R-HSA-210991|reactome:R-HSA-216083|reactome:R-HSA-3000157|reactome:R-HSA-8874081|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|ensembl:ENSG00000005884(gene)|ensembl:ENST00000320031(transcript)|go:"GO:0001764"(neuron migration)|go:"GO:0001968"(fibronectin binding)|go:"GO:0002020"(protease binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005518"(collagen binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0007507"(heart development)|go:"GO:0007613"(memory)|go:"GO:0008305"(integrin complex)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0010634"(positive regulation of epithelial cell migration)|go:"GO:0010811"(positive regulation of cell-substrate adhesion)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0017015"(regulation of transforming growth factor beta receptor signaling pathway)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030111"(regulation of Wnt signaling pathway)|go:"GO:0030324"(lung development)|go:"GO:0030510"(regulation of BMP signaling pathway)|go:"GO:0031345"(negative regulation of cell projection organization)|go:"GO:0031527"(filopodium membrane)|go:"GO:0034667"(integrin alpha3-beta1 complex)|go:"GO:0034698"(response to gonadotropin)|go:"GO:0035024"(negative regulation of Rho protein signal transduction)|refseq:NP_002195.1|dip:DIP-140N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:gmrsTA4D01ARM8U0n7b2HBjo9vs9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P25398 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354542|uniprotkb:Q76M58|ensembl:ENSP00000230050 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs12_human(display_long)|uniprotkb:RPS12(gene name)|psi-mi:RPS12(display_short)|uniprotkb:Small ribosomal subunit protein eS12(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001007.2|ensembl:ENSG00000112306(gene)|ensembl:ENST00000230050(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|interpro:IPR000530(Ribosomal protein S12e)|interpro:IPR004038(Ribosomal protein L7Ae/L30e/S12e/Gadd45)|interpro:IPR029064|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72702|reactome:R-HSA-72695|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:80AIouzSdCvnLUSA7qsMp6naZ3g9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P23396 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351193|uniprotkb:Q498B5|uniprotkb:Q8NI95|uniprotkb:B2R7N5|ensembl:ENSP00000433821|ensembl:ENSP00000434643|ensembl:ENSP00000436971|uniprotkb:J3KN86 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs3_human(display_long)|uniprotkb:RPS3(gene name)|psi-mi:RPS3(display_short)|uniprotkb:Small ribosomal subunit protein uS3(gene name synonym)|uniprotkb:OK/SW-cl.26(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000996.2|ensembl:ENSG00000149273(gene)|ensembl:ENST00000524851(transcript)|ensembl:ENST00000527446(transcript)|ensembl:ENST00000531188(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003677"(DNA binding)|go:"GO:0003684"(damaged DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0003906"("DNA-(apurinic or apyrimidinic site) endonuclease activity")|go:"GO:0004520"(endodeoxyribonuclease activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005743"(mitochondrial inner membrane)|go:"GO:0005759"(mitochondrial matrix)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005844"(polysome)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006281"(DNA repair)|go:"GO:0006412"(translation)|go:"GO:0006413"(translational initiation)|go:"GO:0006915"(apoptotic process)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0007059"(chromosome segregation)|go:"GO:0008017"(microtubule binding)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015631"(tubulin binding)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0019899"(enzyme binding)|go:"GO:0019900"(kinase binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031116"(positive regulation of microtubule polymerization)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0031397"(negative regulation of protein ubiquitination)|go:"GO:0032079"(positive regulation of endodeoxyribonuclease activity)|go:"GO:0032357"(oxidized purine DNA binding)|go:"GO:0032358"(oxidized pyrimidine DNA binding)|go:"GO:0032587"(ruffle membrane)|go:"GO:0032743"(positive regulation of interleukin-2 production)|go:"GO:0034614"(cellular response to reactive oxygen species)|go:"GO:0042104"(positive regulation of activated T cell proliferation)|go:"GO:0042769"(obsolete DNA damage response, detection of DNA damage)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043507"(positive regulation of JUN kinase activity)|go:"GO:0044390"(ubiquitin-like protein conjugating enzyme binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045738"(negative regulation of DNA repair)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0045739"(positive regulation of DNA repair)|go:"GO:0050862"(positive regulation of T cell receptor signaling pathway)|go:"GO:0051018"(protein kinase A binding)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051225"(spindle assembly)|go:"GO:0051301"(cell division)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:0051536"(iron-sulfur cluster binding)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0061481"(response to TNF agonist)|go:"GO:1902231"(positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage)|go:"GO:1902546"(positive regulation of DNA N-glycosylase activity)|go:"GO:1905053"(positive regulation of base-excision repair)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2001235"(positive regulation of apoptotic signaling pathway)|go:"GO:2001272"(positive regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001351(Ribosomal protein S3, C-terminal)|go:"GO:0070181"(small ribosomal subunit rRNA binding)|interpro:IPR004044(K Homology, type 2)|go:"GO:0070301"(cellular response to hydrogen peroxide)|interpro:IPR005703(Ribosomal protein S3, eukaryotic/archaeal)|go:"GO:0071159"(NF-kappaB complex)|interpro:IPR009019(K Homology, prokaryotic type)|interpro:IPR015946(K homology-like, alpha/beta)|go:"GO:0071356"(cellular response to tumor necrosis factor)|interpro:IPR018280|interpro:IPR036419|mint:P23396|rcsb pdb:1WH9|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|go:"GO:0072686"(mitotic spindle)|go:"GO:0097100"(supercoiled DNA binding)|rcsb pdb:6QZP|go:"GO:0140078"("class I DNA-(apurinic or apyrimidinic site) endonuclease activity")|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|refseq:NP_001243731.1|refseq:NP_001247436.1|refseq:NP_001247435.1|dip:DIP-33177N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fsDW18AMR3YyEEIhMVcngYRWkps9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P22626 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-299649|ensembl:ENSP00000346694|ensembl:ENSP00000349101|ensembl:ENSP00000354021|ensembl:ENSP00000503360|ensembl:ENSP00000503476|ensembl:ENSP00000503514|ensembl:ENSP00000503885|ensembl:ENSP00000504329|uniprotkb:P22627|uniprotkb:A8K064|uniprotkb:Q9UC98|uniprotkb:Q9UDJ2|uniprotkb:A0A024RA27|uniprotkb:A0A024RA61 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:roa2_human(display_long)|uniprotkb:HNRNPA2B1(gene name)|psi-mi:HNRNPA2B1(display_short)|uniprotkb:HNRPA2B1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005737"(cytoplasm)|go:"GO:0006397"(mRNA processing)|go:"GO:0006406"(mRNA export from nucleus)|go:"GO:0015030"(Cajal body)|go:"GO:0016020"(membrane)|ensembl:ENST00000679001(transcript)|go:"GO:0016363"(nuclear matrix)|go:"GO:0031053"(primary miRNA processing)|go:"GO:0035198"(miRNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0043047"(single-stranded telomeric DNA binding)|go:"GO:0044806"(G-quadruplex DNA unwinding)|go:"GO:0050658"(RNA transport)|ensembl:ENST00000679021(transcript)|go:"GO:0070062"(extracellular exosome)|ensembl:ENST00000679123(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:0098505"(G-rich strand telomeric DNA binding)|go:"GO:1904358"(positive regulation of telomere maintenance via telomere lengthening)|go:"GO:1905663"(positive regulation of telomerase RNA reverse transcriptase activity)|go:"GO:1990247"(N6-methyladenosine-containing RNA binding)|go:"GO:1990428"(miRNA transport)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034486|interpro:IPR034489|interpro:IPR035979|mint:P22626|rcsb pdb:1X4B|rcsb pdb:5EN1|rcsb pdb:5HO4|rcsb pdb:5WWE|rcsb pdb:5WWF|rcsb pdb:5WWG|rcsb pdb:6WPQ|rcsb pdb:6WQK|reactome:R-HSA-72163|reactome:R-HSA-72203|reactome:R-HSA-8950505|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|ensembl:ENSG00000122566(gene)|ensembl:ENST00000354667(transcript)|ensembl:ENST00000356674(transcript)|ensembl:ENST00000360787(transcript)|ensembl:ENST00000676746(transcript)|ensembl:ENST00000678675(transcript)|refseq:NP_002128.1|refseq:NP_112533.1|dip:DIP-32877N|refseq:XP_005249786.1|refseq:XP_016867598.1|refseq:XP_016867599.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:N2NeJVio9eYQULNcdE1KXtd2KPw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P22087 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358318|uniprotkb:O75259|uniprotkb:Q6IAT5|uniprotkb:Q9UPI6|ensembl:ENSP00000221801|ensembl:ENSP00000487390|uniprotkb:B5BUE8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:fbrl_human(display_long)|uniprotkb:FBL(gene name)|psi-mi:FBL(display_short)|uniprotkb:FIB1(gene name synonym)|uniprotkb:FLRN(gene name synonym)|uniprotkb:Histone-glutamine methyltransferase(gene name synonym)|uniprotkb:34 kDa nucleolar scleroderma antigen(gene name synonym)|uniprotkb:U6 snRNA 2'-O-methyltransferase fibrillarin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001427.2|ensembl:ENSG00000105202(gene)|ensembl:ENSG00000280548(gene)|ensembl:ENST00000221801(transcript)|ensembl:ENST00000625241(transcript)|go:"GO:0000494"(box C/D RNA 3'-end processing)|go:"GO:0001094"(TFIID-class transcription factor complex binding)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0001650"(fibrillar center)|go:"GO:0001651"(dense fibrillar component)|go:"GO:0001652"(granular component)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0006364"(rRNA processing)|go:"GO:0008649"(rRNA methyltransferase activity)|go:"GO:0015030"(Cajal body)|go:"GO:0016020"(membrane)|go:"GO:0031167"(rRNA methylation)|go:"GO:0031428"(box C/D RNP complex)|go:"GO:0032040"(small-subunit processome)|go:"GO:0048254"(snoRNA localization)|go:"GO:0051117"(ATPase binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990258"(histone glutamine methylation)|go:"GO:1990259"(histone-glutamine methyltransferase activity)|interpro:IPR000692(Fibrillarin)|interpro:IPR020813|interpro:IPR029063|mint:P22087|rcsb pdb:2IPX|reactome:R-HSA-6790901|reactome:R-HSA-6791226|dip:DIP-27569N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8m8FDRSxGNKNXpJMcWWbcHL3uss9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P21796 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354158|uniprotkb:Q5FVE7|uniprotkb:Q9UIQ5|uniprotkb:Q9UPL0|uniprotkb:B3KVK4|uniprotkb:D3DQ93|ensembl:ENSP00000265333|ensembl:ENSP00000378484|ensembl:ENSP00000378487 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:vdac1_human(display_long)|uniprotkb:VDAC1(gene name)|psi-mi:VDAC1(display_short)|uniprotkb:VDAC(gene name synonym)|uniprotkb:Outer mitochondrial membrane protein porin 1(gene name synonym)|uniprotkb:Plasmalemmal porin(gene name synonym)|uniprotkb:Porin 31HL(gene name synonym)|uniprotkb:Porin 31HM(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003365.1|refseq:XP_005272132.1|refseq:XP_016865310.1|refseq:XP_016865311.1|refseq:XP_016865312.1|dip:DIP-32862N|ensembl:ENSG00000213585(gene)|ensembl:ENST00000265333(transcript)|ensembl:ENST00000395044(transcript)|ensembl:ENST00000395047(transcript)|go:"GO:0001662"(behavioral fear response)|go:"GO:0005634"(nucleus)|go:"GO:0005739"(mitochondrion)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005757"(mitochondrial permeability transition pore complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0006090"(pyruvate metabolic process)|go:"GO:0006820"(anion transport)|go:"GO:0006851"(mitochondrial calcium ion transmembrane transport)|go:"GO:0006915"(apoptotic process)|go:"GO:0007270"(neuron-neuron synaptic transmission)|go:"GO:0007612"(learning)|go:"GO:0008021"(synaptic vesicle)|go:"GO:0008308"(voltage-gated anion channel activity)|go:"GO:0015288"(porin activity)|go:"GO:0015485"(cholesterol binding)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030855"(epithelial cell differentiation)|go:"GO:0031210"(phosphatidylcholine binding)|go:"GO:0031966"(mitochondrial membrane)|go:"GO:0042645"(mitochondrial nucleoid)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045121"(membrane raft)|go:"GO:0046930"(pore complex)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097001"(ceramide binding)|go:"GO:0110099"(negative regulation of calcium import into the mitochondrion)|go:"GO:1901526"(positive regulation of mitophagy)|go:"GO:1903146"(regulation of autophagy of mitochondrion)|go:"GO:2000378"(negative regulation of reactive oxygen species metabolic process)|interpro:IPR001925(Porin, eukaryotic type)|interpro:IPR023614|interpro:IPR027246|interpro:IPR030270|mint:P21796|rcsb pdb:2JK4|rcsb pdb:2K4T|rcsb pdb:5JDP|rcsb pdb:5XDN|rcsb pdb:5XDO|rcsb pdb:6G6U|rcsb pdb:6G73|rcsb pdb:6TIQ|rcsb pdb:6TIR|reactome:R-HSA-1268020|reactome:R-HSA-5205685|reactome:R-HSA-5689880|reactome:R-HSA-70268|reactome:R-HSA-8949215 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8Fqe6Ga3NmwwuICa4L45ga2i1nk9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P21333 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350432|uniprotkb:Q8NF52|intact:EBI-1103234|ensembl:ENSP00000358866|uniprotkb:Q5HY53|uniprotkb:Q5HY55|uniprotkb:E9KL45 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:flna_human(display_long)|uniprotkb:FLNA(gene name)|psi-mi:FLNA(display_short)|uniprotkb:FLN(gene name synonym)|uniprotkb:FLN1(gene name synonym)|uniprotkb:Alpha-filamin(gene name synonym)|uniprotkb:Filamin-1(gene name synonym)|uniprotkb:Endothelial actin-binding protein(gene name synonym)|uniprotkb:Actin-binding protein 280(gene name synonym)|uniprotkb:Non-muscle filamin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0007195"(adenylate cyclase-inhibiting dopamine receptor signaling pathway)|go:"GO:1902396"(protein localization to bicellular tight junction)|refseq:NP_001104026.1|refseq:NP_001447.2|ensembl:ENSG00000196924(gene)|ensembl:ENST00000369850(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001664"(G protein-coupled receptor binding)|go:"GO:0001837"(epithelial to mesenchymal transition)|go:"GO:0001974"(blood vessel remodeling)|go:"GO:0003007"(heart morphogenesis)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005829"(cytosol)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048680"(positive regulation of axon regeneration)|go:"GO:0050808"(synapse organization)|go:"GO:0050821"(protein stabilization)|go:"GO:0051015"(actin filament binding)|go:"GO:0051020"(GTPase binding)|go:"GO:0051220"(cytoplasmic sequestering of protein)|go:"GO:0051764"(actin crosslink formation)|go:"GO:0060271"(cilium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0071526"(semaphorin-plexin signaling pathway)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0090042"(tubulin deacetylation)|go:"GO:0090307"(mitotic spindle assembly)|go:"GO:0097368"(establishment of Sertoli cell barrier)|go:"GO:0097440"(apical dendrite)|go:"GO:0098794"(postsynapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1900026"(positive regulation of substrate adhesion-dependent cell spreading)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:0046332"(SMAD binding)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0015459"(potassium channel regulator activity)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016479"(negative regulation of transcription by RNA polymerase I)|go:"GO:0019900"(kinase binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0021943"(formation of radial glial scaffolds)|go:"GO:0021987"(cerebral cortex development)|go:"GO:0030018"(Z disc)|go:"GO:0030334"(regulation of cell migration)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031523"(Myb complex)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0031852"(mu-type opioid receptor binding)|go:"GO:0032233"(positive regulation of actin filament bundle assembly)|go:"GO:0032432"(actin filament bundle)|go:"GO:0034394"(protein localization to cell surface)|go:"GO:0034988"(Fc-gamma receptor I complex binding)|go:"GO:0042177"(negative regulation of protein catabolic process)|go:"GO:0042307"(positive regulation of protein import into nucleus)|go:"GO:0042789"(mRNA transcription by RNA polymerase II)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043113"(receptor clustering)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043198"(dendritic shaft)|go:"GO:0043204"(perikaryon)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0044295"(axonal growth cone)|go:"GO:0044319"(wound healing, spreading of cells)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0045022"(early endosome to late endosome transport)|go:"GO:0045184"(establishment of protein localization)|go:"GO:0045216"(cell-cell junction organization)|go:"GO:0045296"(cadherin binding)|reactome:R-HSA-114608|reactome:R-HSA-430116|reactome:R-HSA-446353|reactome:R-HSA-5627123|reactome:R-HSA-8983711|rcsb pdb:6EW1|go:"GO:1905031"(regulation of membrane repolarization during cardiac muscle cell action potential)|go:"GO:2000179"(positive regulation of neural precursor cell proliferation)|go:"GO:2001046"(positive regulation of integrin-mediated signaling pathway)|go:"GO:2001224"(positive regulation of neuron migration)|interpro:IPR001298(Filamin/ABP280 repeat)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR017868|interpro:IPR036872|interpro:IPR044801|mint:P21333|rcsb pdb:2AAV|rcsb pdb:2BP3|rcsb pdb:2BRQ|rcsb pdb:2J3S|rcsb pdb:2JF1|rcsb pdb:2K3T|rcsb pdb:2K7P|rcsb pdb:2K7Q|rcsb pdb:2MTP|rcsb pdb:2W0P|rcsb pdb:2WFN|rcsb pdb:3CNK|rcsb pdb:3HOC|rcsb pdb:3HOP|rcsb pdb:3HOR|rcsb pdb:3ISW|rcsb pdb:3RGH|rcsb pdb:4M9P|rcsb pdb:4P3W|rcsb pdb:5XR1|rcsb pdb:6D8C|go:"GO:1905000"(regulation of membrane repolarization during atrial cardiac muscle cell action potential)|dip:DIP-1136N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZxGK5OSMy8cNsyt7Ax2KXb8bn9M9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P20671 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-4407441|uniprotkb:A0PK91|uniprotkb:P57754|uniprotkb:Q6FGY6|ensembl:ENSP00000341094 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2a1d_human(display_long)|uniprotkb:H2AC7(gene name)|psi-mi:H2AC7(display_short)|uniprotkb:H2AFG(gene name synonym)|uniprotkb:HIST1H2AD(gene name synonym)|uniprotkb:Histone H2A.3(gene name synonym)|uniprotkb:Histone H2A/g(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_066409.1|reactome:R-HSA-9610379|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-977225|ensembl:ENSG00000196866(gene)|ensembl:ENST00000341023(transcript)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006342"|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002119(Histone H2A)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|interpro:IPR032454|interpro:IPR032458|rcsb pdb:5GT3|rcsb pdb:6KBB|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214815|reactome:R-HSA-3214847|reactome:R-HSA-3214858|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-5689603|reactome:R-HSA-5689880|reactome:R-HSA-5689901|reactome:R-HSA-606279|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9609690 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Geraq+dGw3pvAAhgzzXQnYxDOOw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P20645 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2907262|ensembl:ENSP00000000412|uniprotkb:A8K528|uniprotkb:D3DUV5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mprd_human(display_long)|uniprotkb:M6PR(gene name)|psi-mi:M6PR(display_short)|uniprotkb:MPR46(gene name synonym)|uniprotkb:MPRD(gene name synonym)|uniprotkb:46 kDa mannose 6-phosphate receptor(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000003056(gene)|ensembl:ENST00000000412(transcript)|go:"GO:0004888"(transmembrane signaling receptor activity)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005768"(endosome)|go:"GO:0005770"(late endosome)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006622"(protein targeting to lysosome)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0007041"(lysosomal transport)|go:"GO:0008333"(endosome to lysosome transport)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0033299"(secretion of lysosomal enzymes)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:1905394"(retromer complex binding)|interpro:IPR000296(Cation-dependent mannose-6-phosphate receptor)|interpro:IPR009011(Mannose-6-phosphate receptor, binding)|interpro:IPR028927|interpro:IPR044865|mint:P20645|rcsb pdb:1JUQ|reactome:R-HSA-432720|reactome:R-HSA-6811440|reactome:R-HSA-8856825|reactome:R-HSA-8856828|refseq:NP_002346.1|refseq:XP_005253433.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Nx1pgku9M1SjHH42s5ZAY7c7eDc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P19338 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-346967|uniprotkb:Q53SK1|uniprotkb:Q8NB06|uniprotkb:Q9UDG1|uniprotkb:Q9UCF0|intact:EBI-352553|ensembl:ENSP00000318195 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nucl_human(display_long)|uniprotkb:NCL(gene name)|psi-mi:NCL(display_short)|uniprotkb:Protein C23(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005372.2|dip:DIP-89N|ensembl:ENSG00000115053(gene)|ensembl:ENST00000322723(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005938"(cell cortex)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042162"(telomeric DNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0044547"(DNA topoisomerase binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071364"(cellular response to epidermal growth factor stimulus)|go:"GO:1901838"(positive regulation of transcription of nucleolar large rRNA by RNA polymerase I)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR003954(RNA recognition, region 1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034230|interpro:IPR034233|interpro:IPR034234|interpro:IPR034235|interpro:IPR035979|mint:P19338|rcsb pdb:2FC8|rcsb pdb:2FC9|rcsb pdb:2KRR|reactome:R-HSA-6791226 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PbsEnzoLR4dES5SnMwx08Hr6yeo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P18077 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353383|uniprotkb:Q08ES9|uniprotkb:Q9BVN7|ensembl:ENSP00000393393|ensembl:ENSP00000495672 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl35a_human(display_long)|uniprotkb:RPL35A(gene name)|psi-mi:RPL35A(display_short)|uniprotkb:Cell growth-inhibiting gene 33 protein(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL33(gene name synonym)|uniprotkb:GIG33(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000987.2|refseq:NP_001303240.1|ensembl:ENST00000647248(transcript)|go:"GO:0000049"(tRNA binding)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005829"(cytosol)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042273"(ribosomal large subunit biogenesis)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001780(Ribosomal protein L35Ae)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR018266|interpro:IPR038661|mint:P18077|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|ensembl:ENSG00000182899(gene)|ensembl:ENST00000448864(transcript)|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fnUlL17LsiOp3lSkKNsoYO74IQQ9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P17844 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351962|uniprotkb:O75681|uniprotkb:Q53Y61|uniprotkb:B4DLW8|uniprotkb:E7ETL9|uniprotkb:B5BU21|uniprotkb:D3DU32|ensembl:ENSP00000225792|ensembl:ENSP00000403085|ensembl:ENSP00000463168|ensembl:ENSP00000464337|ensembl:ENSP00000504794 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ddx5_human(display_long)|uniprotkb:HLR1(gene name synonym)|uniprotkb:DDX5(gene name)|psi-mi:DDX5(display_short)|uniprotkb:HELR(gene name synonym)|uniprotkb:G17P1(gene name synonym)|uniprotkb:DEAD box protein 5(gene name synonym)|uniprotkb:RNA helicase p68(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004387.1|refseq:NP_001307524.1|refseq:NP_001307525.1|dip:DIP-29844N|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2001014"(regulation of skeletal muscle cell differentiation)|interpro:IPR000629(RNA helicase, ATP-dependent, DEAD-box, conserved site)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR012587(P68HR)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR014014(RNA helicase, DEAD-box type, Q motif)|interpro:IPR027417|mint:P17844|rcsb pdb:3FE2|rcsb pdb:4A4D|reactome:R-HSA-3899300|reactome:R-HSA-72163|reactome:R-HSA-9018519|reactome:R-HSA-9682706|reactome:R-HSA-9694686|ensembl:ENST00000225792(transcript)|ensembl:ENST00000450599(transcript)|ensembl:ENST00000577922(transcript)|ensembl:ENST00000585111(transcript)|ensembl:ENST00000676785(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000380"(alternative mRNA splicing, via spliceosome)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0000956"(nuclear-transcribed mRNA catabolic process)|go:"GO:0001837"(epithelial to mesenchymal transition)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0009299"(mRNA transcription)|go:"GO:0016020"(membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0030509"(BMP signaling pathway)|go:"GO:0030520"(intracellular estrogen receptor signaling pathway)|go:"GO:0030521"(androgen receptor signaling pathway)|go:"GO:0035500"(MH2 domain binding)|go:"GO:0036002"(pre-mRNA binding)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0043517"(positive regulation of DNA damage response, signal transduction by p53 class mediator)|go:"GO:0045069"(regulation of viral genome replication)|go:"GO:0045445"(myoblast differentiation)|go:"GO:0045667"(regulation of osteoblast differentiation)|go:"GO:0046332"(SMAD binding)|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0048511"(rhythmic process)|go:"GO:0050681"(androgen receptor binding)|go:"GO:0060765"(regulation of androgen receptor signaling pathway)|go:"GO:0061614"(miRNA transcription)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070412"(R-SMAD binding)|go:"GO:0070878"(primary miRNA binding)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:0072332"(intrinsic apoptotic signaling pathway by p53 class mediator)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1903800"(positive regulation of production of miRNAs involved in gene silencing by miRNA)|ensembl:ENSG00000108654(gene) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:BlaILQg90jqkI5+DdA0k5YTCGOo9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P16402 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1052479|uniprotkb:Q2M2I2|uniprotkb:B2R751|ensembl:ENSP00000244534 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h13_human(display_long)|uniprotkb:H1-3(gene name)|psi-mi:H1-3(display_short)|uniprotkb:H1F3(gene name synonym)|uniprotkb:HIST1H1D(gene name synonym)|uniprotkb:Histone H1c(gene name synonym)|uniprotkb:Histone H1s-2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005311.1|ensembl:ENSG00000124575(gene)|ensembl:ENST00000244534(transcript)|go:"GO:0000785"(chromatin)|go:"GO:0000786"(nucleosome)|go:"GO:0000791"(euchromatin)|go:"GO:0003690"(double-stranded DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0016584"(nucleosome positioning)|go:"GO:0030261"(chromosome condensation)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0031492"(nucleosomal DNA binding)|go:"GO:0031936"(obsolete negative regulation of chromatin silencing)|go:"GO:0045910"(negative regulation of DNA recombination)|interpro:IPR005818(Histone H1/H5)|interpro:IPR005819(Histone H5)|interpro:IPR036388|interpro:IPR036390|mint:P16402|reactome:R-HSA-140342|reactome:R-HSA-2559584 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:EKx3L/uC7g4QkB/3ARuTL97tMbw9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P16278 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-989638|uniprotkb:B7Z6B0|intact:EBI-1018741|uniprotkb:P16279|ensembl:ENSP00000306920|ensembl:ENSP00000382333|uniprotkb:B2R7H8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:bgal_human(display_long)|uniprotkb:ELNR1(gene name synonym)|uniprotkb:Acid beta-galactosidase(gene name synonym)|uniprotkb:Elastin receptor 1(gene name synonym)|uniprotkb:GLB1(gene name)|psi-mi:GLB1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000395.2|refseq:NP_001073279.1|refseq:NP_001129074.1|ensembl:ENSG00000170266(gene)|ensembl:ENST00000399402(transcript)|go:"GO:0004565"(beta-galactosidase activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005737"(cytoplasm)|go:"GO:0005773"(vacuole)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0006027"(glycosaminoglycan catabolic process)|go:"GO:0006687"(glycosphingolipid metabolic process)|go:"GO:0016936"(galactoside binding)|go:"GO:0019388"(galactose catabolic process)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0042340"(keratan sulfate catabolic process)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044262"(cellular carbohydrate metabolic process)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051413"(response to cortisone)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904016"(response to Thyroglobulin triiodothyronine)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR001944(Glycoside hydrolase, family 35)|interpro:IPR008979(Galactose-binding like)|interpro:IPR017853(Glycoside hydrolase, catalytic core)|interpro:IPR019801|interpro:IPR025300|interpro:IPR026283|interpro:IPR031330|mint:P16278|rcsb pdb:3THC|rcsb pdb:3THD|rcsb pdb:3WEZ|rcsb pdb:3WF0|rcsb pdb:3WF1|rcsb pdb:3WF2|rcsb pdb:3WF3|rcsb pdb:3WF4|reactome:R-HSA-1660662|reactome:R-HSA-2022857|reactome:R-HSA-2024096|reactome:R-HSA-2206308|reactome:R-HSA-4085001|ensembl:ENST00000307363(transcript)|reactome:R-HSA-4341670|reactome:R-HSA-6798695|refseq:NP_001303969.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:L/REQ2uBBZimHZnDpo3URvdGTdA9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P16144 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-948678|ensembl:ENSP00000200181|uniprotkb:O14690|uniprotkb:O14691|uniprotkb:O15339|uniprotkb:O15340|uniprotkb:O15341|uniprotkb:Q9UIQ4|uniprotkb:A0AVL6|uniprotkb:Q0VF97 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:itb4_human(display_long)|uniprotkb:GP150(gene name synonym)|uniprotkb:ITGB4(gene name)|psi-mi:ITGB4(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 dip:DIP-40182N|ensembl:ENSG00000132470(gene)|ensembl:ENST00000200181(transcript)|go:"GO:0001664"(G protein-coupled receptor binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005604"(basement membrane)|go:"GO:0005730"(nucleolus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006914"(autophagy)|go:"GO:0007155"(cell adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0008305"(integrin complex)|go:"GO:0009611"(response to wounding)|go:"GO:0009925"(basal plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0016477"(cell migration)|go:"GO:0030054"(cell junction)|go:"GO:0030056"(hemidesmosome)|go:"GO:0031252"(cell leading edge)|go:"GO:0031581"(hemidesmosome assembly)|go:"GO:0031965"(nuclear membrane)|go:"GO:0032290"(peripheral nervous system myelin formation)|go:"GO:0033627"(cell adhesion mediated by integrin)|go:"GO:0035878"(nail development)|go:"GO:0043235"(receptor complex)|go:"GO:0043589"(skin morphogenesis)|go:"GO:0046847"(filopodium assembly)|go:"GO:0048333"(mesodermal cell differentiation)|go:"GO:0048870"(cell motility)|go:"GO:0061450"(trophoblast cell migration)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000742(EGF-like, type 3)|interpro:IPR002369(Integrin beta subunit, N-terminal)|interpro:IPR003644(Na-Ca exchanger/integrin-beta4)|interpro:IPR003961(Fibronectin, type III)|interpro:IPR012013(Integrin beta-4 subunit)|interpro:IPR012896(Integrin beta subunit, tail)|interpro:IPR013111(EGF, extracellular)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR015812(Integrin beta subunit)|interpro:IPR016201(Plexin-like fold)|interpro:IPR033760|interpro:IPR036116|interpro:IPR036349|interpro:IPR036465|interpro:IPR038081|interpro:IPR040622|mint:P16144|rcsb pdb:1QG3|rcsb pdb:2YRZ|rcsb pdb:3F7P|rcsb pdb:3F7Q|rcsb pdb:3F7R|rcsb pdb:3FQ4|rcsb pdb:3FSO|rcsb pdb:3H6A|rcsb pdb:4Q58|rcsb pdb:4WTW|rcsb pdb:4WTX|rcsb pdb:6GVK|rcsb pdb:6GVL|reactome:R-HSA-2022090|reactome:R-HSA-3000157|reactome:R-HSA-3000170|reactome:R-HSA-446107|refseq:NP_000204.3|refseq:NP_001005619.1|refseq:NP_001005731.1|refseq:NP_001308052.1 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XSzTESyjef5LPBxsph8tWNGJ2u49606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P16070 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-490245|uniprotkb:P22511|uniprotkb:Q04858|uniprotkb:Q13419|uniprotkb:Q13957|uniprotkb:Q13958|uniprotkb:Q13959|uniprotkb:Q13960|uniprotkb:Q13961|uniprotkb:Q13967|uniprotkb:Q13968|uniprotkb:Q13980|uniprotkb:Q15861|uniprotkb:Q16064|uniprotkb:Q16065|uniprotkb:Q16066|uniprotkb:Q16208|uniprotkb:Q16522|uniprotkb:Q86T72|uniprotkb:Q86Z27|uniprotkb:Q8N694|uniprotkb:Q92493|uniprotkb:Q96J24|uniprotkb:Q9UJ36|uniprotkb:Q9H5A5|uniprotkb:A5YRN9|uniprotkb:Q9UC28|uniprotkb:Q9UC29|uniprotkb:Q9UC30|uniprotkb:Q9UCB0|uniprotkb:D3DR12|uniprotkb:D3DR13|uniprotkb:B6EAT9|uniprotkb:O95370|ensembl:ENSP00000398632 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cd44_human(display_long)|uniprotkb:Epican(gene name synonym)|uniprotkb:CDw44(gene name synonym)|uniprotkb:Phagocytic glycoprotein I(gene name synonym)|uniprotkb:Extracellular matrix receptor III(gene name synonym)|uniprotkb:HUTCH-I(gene name synonym)|uniprotkb:Phagocytic glycoprotein 1(gene name synonym)|uniprotkb:GP90 lymphocyte homing/adhesion receptor(gene name synonym)|uniprotkb:Hermes antigen(gene name synonym)|uniprotkb:Hyaluronate receptor(gene name synonym)|uniprotkb:Heparan sulfate proteoglycan(gene name synonym)|uniprotkb:CD44(gene name)|psi-mi:CD44(display_short)|uniprotkb:LHR(gene name synonym)|uniprotkb:MDU2(gene name synonym)|uniprotkb:MDU3(gene name synonym)|uniprotkb:MIC4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000601.3|refseq:NP_001001389.1|refseq:NP_001001390.1|refseq:NP_001001391.1|refseq:NP_001001392.1|refseq:NP_001189484.1|refseq:NP_001189485.1|refseq:NP_001189486.1|refseq:XP_011518790.1|ensembl:ENSG00000026508(gene)|ensembl:ENST00000428726(transcript)|go:"GO:0004888"(transmembrane signaling receptor activity)|go:"GO:0005518"(collagen binding)|go:"GO:0005540"(hyaluronic acid binding)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005902"(microvillus)|go:"GO:0005925"(focal adhesion)|go:"GO:0006954"(inflammatory response)|go:"GO:0007155"(cell adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0009986"(cell surface)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0016477"(cell migration)|go:"GO:0019221"(cytokine-mediated signaling pathway)|go:"GO:0030214"(hyaluronan catabolic process)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0031258"(lamellipodium membrane)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0034116"(positive regulation of heterotypic cell-cell adhesion)|go:"GO:0035692"(macrophage migration inhibitory factor receptor complex)|go:"GO:0042110"(T cell activation)|go:"GO:0042995"(cell projection)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043154"(negative regulation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0043518"(negative regulation of DNA damage response, signal transduction by p53 class mediator)|go:"GO:0044319"(wound healing, spreading of cells)|go:"GO:0044344"(cellular response to fibroblast growth factor stimulus)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0051216"(cartilage development)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070487"(monocyte aggregation)|go:"GO:0098609"(cell-cell adhesion)|go:"GO:1900625"(positive regulation of monocyte aggregation)|go:"GO:1902166"(negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator)|go:"GO:2000392"(regulation of lamellipodium morphogenesis)|interpro:IPR000538(Link)|interpro:IPR001231(CD44 antigen)|interpro:IPR016186(C-type lectin-like)|interpro:IPR016187(C-type lectin fold)|interpro:IPR043210|rcsb pdb:1POZ|rcsb pdb:1UUH|rcsb pdb:2I83|rcsb pdb:4PZ3|rcsb pdb:4PZ4|rcsb pdb:6TXS|reactome:R-HSA-1474228|reactome:R-HSA-202733|reactome:R-HSA-216083|reactome:R-HSA-2160916|reactome:R-HSA-6798695|reactome:R-HSA-877300|dip:DIP-1121N intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:QOb28rF7/ryqfz/ylJFTyL3aoAc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P15880 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-443446|ensembl:ENSP00000341885|uniprotkb:Q3MIB1|uniprotkb:B2R5G0|uniprotkb:D3DU82 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs2_human(display_long)|uniprotkb:RPS2(gene name)|psi-mi:RPS2(display_short)|uniprotkb:RPS4(gene name synonym)|uniprotkb:40S ribosomal protein S4(gene name synonym)|uniprotkb:Protein LLRep3(gene name synonym)|uniprotkb:Small ribosomal subunit protein uS5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR014721(Ribosomal protein S5 domain 2-type fold)|rcsb pdb:6OLG|rcsb pdb:6OLI|interpro:IPR018192|rcsb pdb:6OLZ|interpro:IPR020568|mint:P15880|rcsb pdb:4UG0|rcsb pdb:6OM0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6EK0|rcsb pdb:6G18|rcsb pdb:6XA1|rcsb pdb:6G4S|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6G5H|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7JQB|rcsb pdb:7JQC|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-3214858|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-8876725|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:7A09|ensembl:ENSG00000140988(gene)|ensembl:ENST00000343262(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0017134"(fibroblast growth factor binding)|go:"GO:0019899"(enzyme binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0045296"(cadherin binding)|go:"GO:0051443"(positive regulation of ubiquitin-protein transferase activity)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000851(Ribosomal protein S5)|interpro:IPR005324(Ribosomal protein S5, C-terminal)|interpro:IPR005711(Ribosomal protein S5, eukaryotic/archaeal)|interpro:IPR013810(Ribosomal protein S5, N-terminal)|refseq:NP_002943.2 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JUr2Y3cGk00S8KaTVPymshfaHhc9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P14136 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-744302|uniprotkb:Q53H98|uniprotkb:Q5D055|uniprotkb:Q6ZQS3|uniprotkb:Q7Z5J6|uniprotkb:Q7Z5J7|uniprotkb:Q96KS4|uniprotkb:Q96P18|uniprotkb:Q9UFD0|uniprotkb:B2RD44|uniprotkb:D3DX59|intact:EBI-3909365|uniprotkb:E9PAX3|ensembl:ENSP00000466598|uniprotkb:A7REI1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gfap_human(display_long)|uniprotkb:GFAP(gene name)|psi-mi:GFAP(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001124491.1|refseq:NP_001229305.1|refseq:NP_002046.1|ensembl:ENSG00000131095(gene)|ensembl:ENST00000588735(transcript)|go:"GO:0005178"(integrin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005882"(intermediate filament)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0009611"(response to wounding)|go:"GO:0010467"(gene expression)|go:"GO:0010625"(positive regulation of Schwann cell proliferation)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0014002"(astrocyte development)|go:"GO:0019900"(kinase binding)|go:"GO:0030198"(extracellular matrix organization)|go:"GO:0031102"(neuron projection regeneration)|go:"GO:0042802"(identical protein binding)|go:"GO:0043254"(regulation of protein-containing complex assembly)|go:"GO:0044297"(cell body)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0051580"(regulation of neurotransmitter uptake)|go:"GO:0060020"(Bergmann glial cell differentiation)|go:"GO:0060291"(long-term synaptic potentiation)|go:"GO:0070779"(D-aspartate import across plasma membrane)|go:"GO:0097450"(astrocyte end-foot)|go:"GO:0098574"(cytoplasmic side of lysosomal membrane)|go:"GO:1904714"(regulation of chaperone-mediated autophagy)|interpro:IPR006821(Intermediate filament, DNA-binding region)|interpro:IPR018039|interpro:IPR027701|interpro:IPR039008|mint:P14136|rcsb pdb:6A9P|reactome:R-HSA-1251985|reactome:R-HSA-9613829 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Pz4JW0WjMjBYILTDSX9jUmMqWhg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P13987 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-297972|ensembl:ENSP00000340210|ensembl:ENSP00000379191|ensembl:ENSP00000403511|ensembl:ENSP00000404822|ensembl:ENSP00000410182|ensembl:ENSP00000432942|ensembl:ENSP00000494884|ensembl:ENSP00000498448|ensembl:ENSP00000498879|uniprotkb:E9PR17 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cd59_human(display_long)|uniprotkb:CD59(gene name)|psi-mi:CD59(display_short)|uniprotkb:Membrane attack complex inhibition factor(gene name synonym)|uniprotkb:MAC-inhibitory protein(gene name synonym)|uniprotkb:Protectin(gene name synonym)|uniprotkb:MEM43 antigen(gene name synonym)|uniprotkb:Membrane inhibitor of reactive lysis(gene name synonym)|uniprotkb:20 kDa homologous restriction factor(gene name synonym)|uniprotkb:1F5 antigen(gene name synonym)|uniprotkb:MIC11(gene name synonym)|uniprotkb:MIN1(gene name synonym)|uniprotkb:MIN2(gene name synonym)|uniprotkb:MIN3(gene name synonym)|uniprotkb:MSK21(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000602.1|refseq:NP_001120695.1|refseq:NP_001120697.1|refseq:NP_001120698.1|refseq:NP_001120699.1|refseq:NP_976074.1|refseq:NP_976075.1|refseq:NP_976076.1|ensembl:ENST00000395850(transcript)|ensembl:ENST00000415002(transcript)|ensembl:ENST00000437761(transcript)|ensembl:ENST00000445143(transcript)|ensembl:ENST00000527577(transcript)|ensembl:ENST00000642928(transcript)|ensembl:ENST00000651785(transcript)|ensembl:ENST00000652678(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001848"(complement binding)|go:"GO:0001971"(negative regulation of activation of membrane attack complex)|go:"GO:0005615"(extracellular space)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007166"(cell surface receptor signaling pathway)|go:"GO:0007596"(blood coagulation)|go:"GO:0009986"(cell surface)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0016020"(membrane)|go:"GO:0030133"(transport vesicle)|go:"GO:0030449"(regulation of complement activation)|go:"GO:0031362"(anchored component of external side of plasma membrane)|go:"GO:0031982"(vesicle)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0035579"(specific granule membrane)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:1903659"(regulation of complement-dependent cytotoxicity)|interpro:IPR016054(Ly-6 antigen / uPA receptor -like)|interpro:IPR018363|interpro:IPR027101|mint:P13987|rcsb pdb:1CDQ|rcsb pdb:1CDR|rcsb pdb:1CDS|rcsb pdb:1ERG|rcsb pdb:1ERH|rcsb pdb:2J8B|rcsb pdb:2OFS|rcsb pdb:2UWR|rcsb pdb:2UX2|rcsb pdb:4BIK|rcsb pdb:5IMT|rcsb pdb:5IMY|rcsb pdb:6ZD0|reactome:R-HSA-204005|reactome:R-HSA-5694530|reactome:R-HSA-6798695|reactome:R-HSA-6807878|reactome:R-HSA-977606|ensembl:ENSG00000085063(gene)|ensembl:ENST00000351554(transcript) intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:l93Yw04Ax0xODyPzjFqaaMvqBeM9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P12814 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351710|uniprotkb:Q9BTN1|uniprotkb:Q1HE25|uniprotkb:B7TY16|intact:EBI-3866221|uniprotkb:B3V8S3|uniprotkb:B4DHH3|ensembl:ENSP00000193403 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actn1_human(display_long)|uniprotkb:ACTN1(gene name)|psi-mi:ACTN1(display_short)|uniprotkb:Alpha-actinin cytoskeletal isoform(gene name synonym)|uniprotkb:Non-muscle alpha-actinin-1(gene name synonym)|uniprotkb:F-actin cross-linking protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001093.1|refseq:NP_001123477.1|refseq:NP_001123476.1|dip:DIP-33184N|ensembl:ENSG00000072110(gene)|ensembl:ENST00000193403(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0001726"(ruffle)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005916"(fascia adherens)|go:"GO:0005925"(focal adhesion)|go:"GO:0007015"(actin filament organization)|go:"GO:0017166"(vinculin binding)|go:"GO:0030018"(Z disc)|go:"GO:0030220"(platelet formation)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0031093"(platelet alpha granule lumen)|go:"GO:0031143"(pseudopodium)|go:"GO:0036344"(platelet morphogenesis)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0042995"(cell projection)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0051015"(actin filament binding)|go:"GO:0051017"(actin filament bundle assembly)|go:"GO:0051271"(negative regulation of cellular component movement)|go:"GO:0051639"(actin filament network formation)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099186"(structural constituent of postsynapse)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR014837(EF-hand, Ca insensitive)|interpro:IPR018159|interpro:IPR018247|interpro:IPR036872|mint:P12814|rcsb pdb:2EYI|rcsb pdb:2EYN|rcsb pdb:2N8Y|rcsb pdb:2N8Z|reactome:R-HSA-114608|reactome:R-HSA-3000170|reactome:R-HSA-373753|reactome:R-HSA-446388|reactome:R-HSA-9013405|reactome:R-HSA-9013418|reactome:R-HSA-9035034 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:guTURyt26f1ort4NAlYyabNc+WE9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P12236 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356254|ensembl:ENSP00000370808|uniprotkb:Q96C49 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:adt3_human(display_long)|uniprotkb:SLC25A6(gene name)|psi-mi:SLC25A6(display_short)|uniprotkb:ANT3(gene name synonym)|uniprotkb:CDABP0051(orf name)|uniprotkb:Adenine nucleotide translocator 3(gene name synonym)|uniprotkb:ADP,ATP carrier protein 3(gene name synonym)|uniprotkb:Solute carrier family 25 member 6(gene name synonym)|uniprotkb:ADP,ATP carrier protein, isoform T2(gene name synonym)|uniprotkb:AAC3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27044482|imex:IM-29110-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000169100(gene)|ensembl:ENST00000381401(transcript)|go:"GO:0005471"("ATP:ADP antiporter activity")|go:"GO:0005634"(nucleus)|go:"GO:0005739"(mitochondrion)|go:"GO:0005743"(mitochondrial inner membrane)|go:"GO:0005744"(TIM23 mitochondrial import inner membrane translocase complex)|go:"GO:0006915"(apoptotic process)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0140021"(mitochondrial ADP transmembrane transport)|go:"GO:1990544"(mitochondrial ATP transmembrane transport)|interpro:IPR002067(Mitochondrial carrier protein)|interpro:IPR002113(Adenine nucleotide translocator 1)|interpro:IPR018108|interpro:IPR023395|mint:P12236|reactome:R-HSA-1268020|reactome:R-HSA-168277|reactome:R-HSA-180897|reactome:R-HSA-83936|refseq:NP_001627.2 intact:EBI-27045766(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice - this is association from proteomics I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:K5zi7otVqbL4Z4NHyHB1nojLOTg9606 rigid:vu3f071R2dXYQhN6vBHAsBjV6B8 false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P16104 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-494830|uniprotkb:Q4ZGJ7|uniprotkb:Q6IAS5|ensembl:ENSP00000364310|ensembl:ENSP00000434024 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2ax_human(display_long)|uniprotkb:H2AX(gene name)|psi-mi:H2AX(display_short)|uniprotkb:H2AFX(gene name synonym)|uniprotkb:Histone H2A.X(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000188486(gene)|ensembl:ENST00000375167(transcript)|ensembl:ENST00000530167(transcript)|go:"GO:0000077"(DNA damage checkpoint signaling)|go:"GO:0000724"(double-strand break repair via homologous recombination)|go:"GO:0000786"(nucleosome)|go:"GO:0000794"(condensed nuclear chromosome)|go:"GO:0001673"(male germ cell nucleus)|go:"GO:0001741"(XY body)|go:"GO:0003677"(DNA binding)|go:"GO:0003684"(damaged DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005657"(replication fork)|refseq:NP_002096.1|dip:DIP-33604N|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214858|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-5693565|reactome:R-HSA-5693571|reactome:R-HSA-5693607|reactome:R-HSA-606279|reactome:R-HSA-69473|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-977225|go:"GO:0005813"(centrosome)|go:"GO:0006302"(double-strand break repair)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0006342"|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0007283"(spermatogenesis)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0016607"(nuclear speck)|go:"GO:0019899"(enzyme binding)|go:"GO:0021987"(cerebral cortex development)|go:"GO:0035861"(site of double-strand break)|go:"GO:0042393"(histone binding)|go:"GO:0045739"(positive regulation of DNA repair)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0051321"(meiotic cell cycle)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071480"(cellular response to gamma radiation)|go:"GO:0090398"(cellular senescence)|go:"GO:0090734"(site of DNA damage)|interpro:IPR002119(Histone H2A)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|interpro:IPR032454|interpro:IPR032458|mint:P16104|rcsb pdb:1YDP|rcsb pdb:2AZM|rcsb pdb:2D31|rcsb pdb:2DYP|rcsb pdb:3SHV|rcsb pdb:3SQD|rcsb pdb:3SZM|rcsb pdb:3U3Z|rcsb pdb:6K1I|rcsb pdb:6K1J|rcsb pdb:6K1K intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VQoEp3F8lEBTOj+PDDUzrJCQNZA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NZM1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1994363|uniprotkb:Q5VWW2|uniprotkb:Q5VWW3|uniprotkb:Q5VWW4|uniprotkb:Q5VWW5|uniprotkb:Q7Z642|uniprotkb:Q8IWH0|uniprotkb:Q9HBU3|uniprotkb:Q9NZM0|uniprotkb:Q9ULL3|uniprotkb:Q9Y4U4|uniprotkb:B3KQN5|ensembl:ENSP00000352208 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myof_human(display_long)|uniprotkb:MYOF(gene name)|psi-mi:MYOF(display_short)|uniprotkb:KIAA1207(gene name synonym)|uniprotkb:FER1L3(gene name synonym)|uniprotkb:Fer-1-like protein 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_038479.1|refseq:NP_579899.1|go:"GO:0070062"(extracellular exosome)|interpro:IPR000008(C2 calcium-dependent membrane targeting)|interpro:IPR006614(Dysferlin, C-terminal)|interpro:IPR012560(FerA)|interpro:IPR012561(FerB)|interpro:IPR012968(FerI)|interpro:IPR029999|interpro:IPR032362|interpro:IPR035892|interpro:IPR037720|interpro:IPR037721|interpro:IPR037722|interpro:IPR037723|interpro:IPR037724|interpro:IPR037725|interpro:IPR037726|mint:Q9NZM1|rcsb pdb:2DMH|rcsb pdb:2K2O|rcsb pdb:6EEL|ensembl:ENSG00000138119(gene)|ensembl:ENST00000359263(transcript)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0005543"(phospholipid binding)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005886"(plasma membrane)|go:"GO:0005901"(caveola)|go:"GO:0006936"(muscle contraction)|go:"GO:0007009"(plasma membrane organization)|go:"GO:0007520"(myoblast fusion)|go:"GO:0008015"(blood circulation)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031965"(nuclear membrane)|go:"GO:0033292"(T-tubule organization)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0046872"(metal ion binding)|go:"GO:0061025"(membrane fusion) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YbWzqcootZO0/w6OLRqxZEEAu9U9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15061 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-7843148|intact:EBI-28977600|ensembl:ENSP00000336775|intact:MINT-198289|uniprotkb:Q2TBJ4|uniprotkb:Q5NJJ9|uniprotkb:Q8TE62|uniprotkb:A7E2Y2|uniprotkb:Q8TE61 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:synem_human(display_long)|uniprotkb:KIAA0353(gene name synonym)|uniprotkb:DMN(gene name synonym)|uniprotkb:SYN(gene name synonym)|uniprotkb:Desmuslin(gene name synonym)|uniprotkb:SYNM(gene name)|psi-mi:SYNM(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000336775|ensembl:ENSG00000182253(gene)|ensembl:ENST00000336292(transcript)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005882"(intermediate filament)|go:"GO:0005912"(adherens junction)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0017166"(vinculin binding)|go:"GO:0019215"(intermediate filament binding)|go:"GO:0031443"(fast-twitch skeletal muscle fiber contraction)|go:"GO:0042383"(sarcolemma)|go:"GO:0043034"(costamere)|go:"GO:0045104"(intermediate filament cytoskeleton organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0060053"(neurofilament cytoskeleton)|interpro:IPR018039|interpro:IPR030634|interpro:IPR039008|rcsb pdb:6EWO|refseq:NP_056101.5|refseq:NP_663780.2 intact:EBI-27044482(see-also) - comment:mint|function:"Desmuslin is a type-VI intermediate filament which may function as a mechanical support to the muscle fibers by making a linkage between the extracellular matrix via the dystrophin-associated protein complex (DAPC) and the Z-disk" figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rzVhqnzGeDs2F13p1f2TSKoradM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:D6RG13 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-8011725|intact:MINT-8395023|ensembl:ENSP00000426466 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:d6rg13_human(display_long)|uniprotkb:RPS3A(gene name)|psi-mi:RPS3A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000145425(gene)|ensembl:ENST00000510993(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001593(Ribosomal protein S3Ae)|interpro:IPR018281|interpro:IPR027500 intact:EBI-27044482(see-also) - comment:mint|comment:homomint figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:QIniEj5yhOuYFViojNvlloOGNDk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EW20 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11324728|ensembl:ENSP00000358998 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7ew20_human(display_long)|uniprotkb:MYO6(gene name)|psi-mi:MYO6(display_short)|uniprotkb:Unconventional myosin-VI(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000196586(gene)|ensembl:ENST00000369981(transcript)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0005902"(microvillus)|go:"GO:0030175"(filopodium)|go:"GO:0032587"(ruffle membrane)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051015"(actin filament binding)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR008989(Myosin S1 fragment, N-terminal)|interpro:IPR027417|interpro:IPR032412|interpro:IPR036114|interpro:IPR036961|go:"GO:0005905"(clathrin-coated pit)|go:"GO:0006897"(endocytosis)|go:"GO:0007605"(sensory perception of sound)|go:"GO:0015031"(protein transport)|go:"GO:0016459"(myosin complex)|go:"GO:0030136"(clathrin-coated vesicle) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fDuAUFquqQVooM4D49G3c1ByyNs9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9J9K3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-8011875|intact:MINT-8395011|ensembl:ENSP00000410848 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9j9k3_human(display_long)|uniprotkb:RPSA(gene name)|psi-mi:RPSA(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000168028(gene)|ensembl:ENST00000458478(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005737"(cytoplasm)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|interpro:IPR001865(Ribosomal protein S2)|interpro:IPR005707(Ribosomal protein S2, eukaryotic/archaeal)|interpro:IPR018130|interpro:IPR023591|interpro:IPR027498|interpro:IPR032281 intact:EBI-27044482(see-also) - comment:mint|comment:homomint figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:slFqShCmEHqqyQj4TKTsI7Vum3s9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14684 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-372051|uniprotkb:Q8TBZ4|ensembl:ENSP00000339145 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rrp1b_human(display_long)|uniprotkb:RRP1B(gene name)|psi-mi:RRP1B(display_short)|uniprotkb:RRP1-like protein B(gene name synonym)|uniprotkb:KIAA0179(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_055871.1|ensembl:ENSG00000160208(gene)|ensembl:ENST00000340648(transcript)|go:"GO:0001652"(granular component)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006364"(rRNA processing)|go:"GO:0006397"(mRNA processing)|go:"GO:0006915"(apoptotic process)|go:"GO:0008380"(RNA splicing)|go:"GO:0030687"(preribosome, large subunit precursor)|go:"GO:0030688"(preribosome, small subunit precursor)|go:"GO:0034260"(negative regulation of GTPase activity)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043484"(regulation of RNA splicing)|go:"GO:0043923"(positive regulation by host of viral transcription)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0098586"(cellular response to virus)|interpro:IPR010301(Nucleolar, Nop52)|mint:Q14684 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:H3sDvQUIMBW6mjqtLWQmVKQr6uY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q99523 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1057058|uniprotkb:Q8IZ49|uniprotkb:C0JYZ0|uniprotkb:B4DWI3|ensembl:ENSP00000256637 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sort_human(display_long)|uniprotkb:SORT1(gene name)|psi-mi:SORT1(display_short)|uniprotkb:Neurotensin receptor 3(gene name synonym)|uniprotkb:Glycoprotein 95(gene name synonym)|uniprotkb:100 kDa NT receptor(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001192157.1|refseq:NP_002950.3|ensembl:ENSG00000134243(gene)|ensembl:ENST00000256637(transcript)|go:"GO:0001503"(ossification)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005769"(early endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005905"(clathrin-coated pit)|go:"GO:0006622"(protein targeting to lysosome)|go:"GO:0006892"(post-Golgi vesicle-mediated transport)|go:"GO:0006895"(Golgi to endosome transport)|go:"GO:0006897"(endocytosis)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007218"(neuropeptide signaling pathway)|go:"GO:0008333"(endosome to lysosome transport)|go:"GO:0008625"(extrinsic apoptotic signaling pathway via death domain receptors)|go:"GO:0009986"(cell surface)|go:"GO:0010008"(endosome membrane)|go:"GO:0010465"(nerve growth factor receptor activity)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0014902"(myotube differentiation)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016050"(vesicle organization)|go:"GO:0019899"(enzyme binding)|go:"GO:0030136"(clathrin-coated vesicle)|go:"GO:0030140"(trans-Golgi network transport vesicle)|go:"GO:0030379"(neurotensin receptor activity, non-G protein-coupled)|go:"GO:0030425"(dendrite)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031965"(nuclear membrane)|go:"GO:0032509"(endosome transport via multivesicular body sorting pathway)|go:"GO:0032580"(Golgi cisterna membrane)|go:"GO:0043025"(neuronal cell body)|go:"GO:0045599"(negative regulation of fat cell differentiation)|go:"GO:0046323"(glucose import)|go:"GO:0048011"(neurotrophin TRK receptor signaling pathway)|go:"GO:0048227"(plasma membrane to endosome transport)|go:"GO:0048406"(nerve growth factor binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051005"(negative regulation of lipoprotein lipase activity)|go:"GO:0090160"(Golgi to lysosome transport)|go:"GO:1904037"(positive regulation of epithelial cell apoptotic process)|go:"GO:1905394"(retromer complex binding)|interpro:IPR006581(VPS10)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR031777|interpro:IPR031778|mint:Q99523|rcsb pdb:3F6K|rcsb pdb:3G2U|rcsb pdb:3G2V|rcsb pdb:4MSL|rcsb pdb:4N7E|rcsb pdb:4PO7|rcsb pdb:5MRH|rcsb pdb:5MRI|rcsb pdb:6EHO|rcsb pdb:6X3L|rcsb pdb:6X48|rcsb pdb:6X4H|reactome:R-HSA-432722|go:"GO:0032868"(response to insulin)|dip:DIP-41798N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:h/+2jen/dw+5leVis906F7iBs/A9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UBG0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1104992|ensembl:ENSP00000307513|uniprotkb:Q7LGE7|uniprotkb:Q9Y5P9|uniprotkb:D3DU08|uniprotkb:A6H8K4 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mrc2_human(display_long)|uniprotkb:MRC2(gene name)|psi-mi:MRC2(display_short)|uniprotkb:ENDO180(gene name synonym)|uniprotkb:KIAA0709(gene name synonym)|uniprotkb:UPARAP(gene name synonym)|uniprotkb:Macrophage mannose receptor 2(gene name synonym)|uniprotkb:Endocytic receptor 180(gene name synonym)|uniprotkb:Urokinase-type plasminogen activator receptor-associated protein(gene name synonym)|uniprotkb:CLEC13E(gene name synonym)|uniprotkb:C-type lectin domain family 13 member E(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000011028(gene)|ensembl:ENST00000303375(transcript)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0005518"(collagen binding)|go:"GO:0005925"(focal adhesion)|go:"GO:0006897"(endocytosis)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030246"(carbohydrate binding)|go:"GO:0030574"(collagen catabolic process)|go:"GO:0038023"(signaling receptor activity)|interpro:IPR000562(Type II fibronectin, collagen-binding)|interpro:IPR000772(Ricin B lectin)|interpro:IPR001304(C-type lectin)|interpro:IPR013806(Kringle-like fold)|interpro:IPR016186(C-type lectin-like)|interpro:IPR016187(C-type lectin fold)|interpro:IPR018378|interpro:IPR033989|interpro:IPR035992|interpro:IPR036943|rcsb pdb:5AO5|rcsb pdb:5AO6|rcsb pdb:5E4K|rcsb pdb:5E4L|rcsb pdb:5EW6|reactome:R-HSA-1236978|refseq:NP_006030.2|dip:DIP-37631N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/Avt/3LBOV9xvNzhxpCGV+Bt8/M9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q155Q3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1104700|uniprotkb:A1A5D8|uniprotkb:Q6P2J8|uniprotkb:Q6PIK4|uniprotkb:Q8IVY4|uniprotkb:Q96N69|uniprotkb:Q9C0C8|ensembl:ENSP00000394352|intact:EBI-2558585|uniprotkb:E9PRV4|uniprotkb:Q86SR7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dixc1_human(display_long)|uniprotkb:DIXDC1(gene name)|psi-mi:DIXDC1(display_short)|uniprotkb:CCD1(gene name synonym)|uniprotkb:KIAA1735(gene name synonym)|uniprotkb:DIX domain-containing protein 1(gene name synonym)|uniprotkb:Coiled-coil protein DIX1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001033043.1|refseq:NP_219493.1|ensembl:ENST00000440460(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005925"(focal adhesion)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0021799"(cerebral cortex radially oriented cell migration)|go:"GO:0021869"(forebrain ventricular zone progenitor cell division)|go:"GO:0030177"(positive regulation of Wnt signaling pathway)|go:"GO:0032956"(regulation of actin cytoskeleton organization)|go:"GO:0043015"(gamma-tubulin binding)|go:"GO:0045665"(negative regulation of neuron differentiation)|go:"GO:0060070"(canonical Wnt signaling pathway)|go:"GO:0070507"(regulation of microtubule cytoskeleton organization)|interpro:IPR001158(DIX)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR015506(Dishevelled related protein)|ensembl:ENSG00000150764(gene)|interpro:IPR029071|interpro:IPR029800|interpro:IPR038207|rcsb pdb:3PZ7|interpro:IPR036872|refseq:NP_001265471.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:U5J1YelDUp6jA2qyvrEUur3rjNI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P48643 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355710|uniprotkb:A8JZY8|ensembl:ENSP00000280326|uniprotkb:A8K2X8|uniprotkb:B4DYD8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tcpe_human(display_long)|uniprotkb:CCT5(gene name)|psi-mi:CCT5(display_short)|uniprotkb:CCTE(gene name synonym)|uniprotkb:KIAA0098(gene name synonym)|uniprotkb:CCT-epsilon(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036205.1|ensembl:ENSG00000150753(gene)|ensembl:ENST00000280326(transcript)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|refseq:NP_001293084.1|go:"GO:0005874"(microtubule)|go:"GO:0006457"(protein folding)|go:"GO:0007339"(binding of sperm to zona pellucida)|go:"GO:0009615"(response to virus)|go:"GO:0005832"(chaperonin-containing T-complex)|go:"GO:0031681"(G-protein beta-subunit binding)|go:"GO:0032212"(positive regulation of telomere maintenance via telomerase)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0044297"(cell body)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0048487"(beta-tubulin binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1901998"(toxin transport)|go:"GO:1904851"(positive regulation of establishment of protein localization to telomere)|go:"GO:1904871"(positive regulation of protein localization to Cajal body)|go:"GO:1904874"(positive regulation of telomerase RNA localization to Cajal body)|interpro:IPR002194(Chaperonin TCP-1, conserved site)|interpro:IPR002423(Chaperonin Cpn60/TCP-1)|interpro:IPR017998|interpro:IPR027409|interpro:IPR027410|interpro:IPR027413|mint:P48643|rcsb pdb:5UYX|rcsb pdb:5UYZ|rcsb pdb:6NR8|rcsb pdb:6NR9|rcsb pdb:6NRA|rcsb pdb:6NRB|rcsb pdb:6NRC|rcsb pdb:6NRD|rcsb pdb:6QB8|rcsb pdb:7LUM|rcsb pdb:7LUP|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-390450|reactome:R-HSA-390471|reactome:R-HSA-5620922|reactome:R-HSA-6814122|interpro:IPR012718(T-complex protein 1, epsilon subunit)|dip:DIP-31181N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:u7uFkOYrDKL0gGvC24p34tQHhcw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O60506 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1024357|uniprotkb:Q53H05|uniprotkb:Q5TCG2|uniprotkb:Q8IW78|uniprotkb:Q8N599|uniprotkb:Q96LC1|uniprotkb:Q96LC2|uniprotkb:Q9Y583|uniprotkb:Q5TCG3|uniprotkb:E1P501|uniprotkb:E1P502|ensembl:ENSP00000358635|ensembl:ENSP00000503783|ensembl:ENSP00000504706 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hnrpq_human(display_long)|uniprotkb:Synaptotagmin-binding, cytoplasmic RNA-interacting protein(gene name synonym)|uniprotkb:Glycine- and tyrosine-rich RNA-binding protein(gene name synonym)|uniprotkb:NS1-associated protein 1(gene name synonym)|uniprotkb:SYNCRIP(gene name)|psi-mi:SYNCRIP(display_short)|uniprotkb:HNRPQ(gene name synonym)|uniprotkb:NSAP1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001153145.1|refseq:NP_001153146.1|refseq:NP_001153147.1|refseq:NP_001240700.1|refseq:NP_001153148.1|refseq:NP_001153149.1|refseq:NP_006363.4|ensembl:ENSG00000135316(gene)|ensembl:ENST00000369622(transcript)|ensembl:ENST00000676688(transcript)|ensembl:ENST00000678355(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0006396"(RNA processing)|go:"GO:0008380"(RNA splicing)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0070934"(CRD-mediated mRNA stabilization)|go:"GO:0070937"(CRD-mediated mRNA stability complex)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:0071204"(histone pre-mRNA 3'end processing complex)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0097452"(GAIT complex)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR006535(HnRNP R and Q splicing factor)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034544|interpro:IPR034548|interpro:IPR035979|interpro:IPR041337|mint:O60506|rcsb pdb:2DGU|rcsb pdb:2MXT|rcsb pdb:2NBB|rcsb pdb:6KOR|refseq:XP_016865667.1|refseq:XP_005248694.1|dip:DIP-35540N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2rDkXIp/wWzTOoVtN7Bd3uqZo689606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13151 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-724092|ensembl:ENSP00000316042|intact:EBI-1043661|uniprotkb:Q6IB18 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:roa0_human(display_long)|uniprotkb:HNRPA0(gene name synonym)|uniprotkb:HNRNPA0(gene name)|psi-mi:HNRNPA0(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006796.1|ensembl:ENSG00000177733(gene)|ensembl:ENST00000314940(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006397"(mRNA processing)|go:"GO:0006954"(inflammatory response)|go:"GO:0019901"(protein kinase binding)|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0035925"(mRNA 3'-UTR AU-rich region binding)|go:"GO:0070935"(3'-UTR-mediated mRNA stabilization)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034801|interpro:IPR035979|mint:Q13151|reactome:R-HSA-72163|reactome:R-HSA-72203 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:buyQxR8FLxd4N6jRhwVsroeGrBw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6PRD1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-20895185|ensembl:ENSP00000484951 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gp179_human(display_long)|uniprotkb:Probable G-protein coupled receptor 158-like 1(gene name synonym)|uniprotkb:GPR179(gene name)|psi-mi:GPR179(display_short)|uniprotkb:GPR158L(gene name synonym)|uniprotkb:GPR158L1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000484951|ensembl:ENSG00000276469(gene)|ensembl:ENST00000610650(transcript)|go:"GO:0004930"(G protein-coupled receptor activity)|go:"GO:0005886"(plasma membrane)|go:"GO:0007601"(visual perception)|go:"GO:0016021"(integral component of membrane)|interpro:IPR017978|interpro:IPR032964|interpro:IPR043458|mint:Q6PRD1|refseq:NP_001004334.3 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:G+ereWBWFI9EVs5KWBE1FTXsWrs9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15417 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2371691|uniprotkb:B4DFK6|uniprotkb:B4DP09|uniprotkb:F8WA86|uniprotkb:Q6FHA7|ensembl:ENSP00000359225 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cnn3_human(display_long)|uniprotkb:CNN3(gene name)|psi-mi:CNN3(display_short)|uniprotkb:Calponin, acidic isoform(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001830.1|refseq:NP_001272984.1|refseq:NP_001272985.1|refseq:XP_016855734.1|ensembl:ENSG00000117519(gene)|ensembl:ENST00000370206(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005829"(cytosol)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0008017"(microtubule binding)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030855"(epithelial cell differentiation)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0032780"(negative regulation of ATP-dependent activity)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|interpro:IPR000557(Calponin repeat)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR001997(Calponin)|interpro:IPR003096(SM22/calponin)|interpro:IPR036872 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:UgeW769u9WgYLYNzTZ50xQqB5I09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y4R2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043992|ensembl:ENSP00000393527 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y4r2_human(display_long)|uniprotkb:POR(gene name)|psi-mi:POR(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR008254(Flavodoxin/nitric oxide synthase)|interpro:IPR017927|interpro:IPR017938|interpro:IPR023173|interpro:IPR023208|interpro:IPR029039|interpro:IPR039261|interpro:IPR003097(FAD-binding, type 1)|ensembl:ENSG00000127948(gene)|ensembl:ENST00000447222(transcript)|go:"GO:0003958"(NADPH-hemoprotein reductase activity)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0010181"(FMN binding)|go:"GO:0016021"(integral component of membrane)|interpro:IPR001094(Flavodoxin-like)|interpro:IPR001433("Oxidoreductase FAD/NAD(P)-binding")|interpro:IPR001709(Flavoprotein pyridine nucleotide cytochrome reductase) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JR6aqf3WTORomSX7Sc8n8hqL6qI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9JSC3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043676|ensembl:ENSP00000409675 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9jsc3_human(display_long)|uniprotkb:NCKIPSD(gene name)|psi-mi:NCKIPSD(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000213672(gene)|ensembl:ENST00000439518(transcript)|interpro:IPR001452(Src homology-3)|interpro:IPR035514|interpro:IPR036028 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3XWY/MkA+uOFFshHTNn4hbUrgxY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14764 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2816254|uniprotkb:Q9BPW6|uniprotkb:Q9BQT1|uniprotkb:Q96BG4|uniprotkb:Q9UBD1|intact:EBI-28971732|ensembl:ENSP00000349977|ensembl:ENSP00000378760 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mvp_human(display_long)|uniprotkb:MVP(gene name)|psi-mi:MVP(display_short)|uniprotkb:LRP(gene name synonym)|uniprotkb:Lung resistance-related protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000349977|ensembl:ENSP00000378760|refseq:NP_001280133.1|refseq:NP_001280134.1|refseq:NP_005106.2|refseq:NP_059447.2|ensembl:ENSG00000013364(gene)|ensembl:ENST00000357402(transcript)|ensembl:ENST00000395353(transcript)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005643"(nuclear pore)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0015031"(protein transport)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0031953"(negative regulation of protein autophosphorylation)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0038127"(ERBB signaling pathway)|go:"GO:0042059"(negative regulation of epidermal growth factor receptor signaling pathway)|go:"GO:0042802"(identical protein binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051028"(mRNA transport)|go:"GO:0061099"(negative regulation of protein tyrosine kinase activity)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR002499(Major vault protein, N-terminal)|interpro:IPR021870|interpro:IPR036013|interpro:IPR039059|interpro:IPR040989|interpro:IPR041134|interpro:IPR041136|interpro:IPR041139|interpro:IPR043023|interpro:IPR043179|mint:Q14764|rcsb pdb:1Y7X|reactome:R-HSA-6798695 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:z/Hc6TeTzO5QSpZ8AUXiI2ox4eg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O95816 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355275|uniprotkb:Q08AS9|uniprotkb:Q6FID0|uniprotkb:B4DXE2|ensembl:ENSP00000359727|intact:EBI-11068407 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:bag2_human(display_long)|uniprotkb:BAG2(gene name)|psi-mi:BAG2(display_short)|uniprotkb:Bcl-2-associated athanogene 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004273.1|refseq:XP_011513301.1|refseq:XP_005249547.1|ensembl:ENSG00000112208(gene)|ensembl:ENST00000370693(transcript)|go:"GO:0030424"(axon)|go:"GO:0030425"(dendrite)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0031397"(negative regulation of protein ubiquitination)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0048156"(tau protein binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0000774"(adenyl-nucleotide exchange factor activity)|go:"GO:0005829"(cytosol)|go:"GO:0006457"(protein folding)|go:"GO:0010954"(positive regulation of protein processing)|go:"GO:0019538"(protein metabolic process)|go:"GO:0051087"(chaperone binding)|go:"GO:0101031"(chaperone complex)|go:"GO:1901588"(dendritic microtubule)|go:"GO:1901800"(positive regulation of proteasomal protein catabolic process)|go:"GO:1904667"(negative regulation of ubiquitin protein ligase activity)|interpro:IPR003103(Apoptosis regulator Bcl-2 protein, BAG)|interpro:IPR037689|mint:O95816|reactome:R-HSA-3371453|refseq:XP_011513300.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nBGGBIQc/3P0mwp7N/XuTGLOrg89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14639 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-487024|uniprotkb:A6NI16|uniprotkb:Q5T6N3|uniprotkb:Q5JVV1|uniprotkb:Q15039|uniprotkb:Q68CQ9|uniprotkb:Q9BUP1|uniprotkb:Q5T6N5|uniprotkb:B3KVH2|uniprotkb:Q5T6N2|uniprotkb:A6NJ06|uniprotkb:A8MXA9|uniprotkb:Q5JVV2|ensembl:ENSP00000277895 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ablm1_human(display_long)|uniprotkb:Actin-binding LIM protein family member 1(gene name synonym)|uniprotkb:Actin-binding double zinc finger protein(gene name synonym)|uniprotkb:Limatin(gene name synonym)|uniprotkb:ABLIM1(gene name)|psi-mi:ABLIM1(display_short)|uniprotkb:ABLIM(gene name synonym)|uniprotkb:KIAA0059(gene name synonym)|uniprotkb:LIMAB1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001003407.1|refseq:NP_002304.3|refseq:NP_006711.3|ensembl:ENSG00000099204(gene)|ensembl:ENST00000277895(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0007010"(cytoskeleton organization)|go:"GO:0007601"(visual perception)|go:"GO:0009887"(animal organ morphogenesis)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0046872"(metal ion binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0060271"(cilium assembly)|interpro:IPR001781(Zinc finger, LIM-type)|interpro:IPR003128(Villin headpiece)|interpro:IPR028448|interpro:IPR032402|interpro:IPR036886|mint:O14639|reactome:R-HSA-418885|go:"GO:0030032"(lamellipodium assembly)|refseq:NP_001309811.1|refseq:NP_001309821.1|refseq:NP_001309822.1|refseq:NP_001309825.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Dsx3GrmdlsYUmQvuW59NfYF7MJg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y2X3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-395469|uniprotkb:Q53SA4|uniprotkb:Q6PK08|uniprotkb:Q9P036|uniprotkb:Q9UFN3|ensembl:ENSP00000264279 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nop58_human(display_long)|uniprotkb:NOP58(gene name)|psi-mi:NOP58(display_short)|uniprotkb:NOL5(gene name synonym)|uniprotkb:Nucleolar protein 5(gene name synonym)|uniprotkb:NOP5(gene name synonym)|uniprotkb:HSPC120(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_057018.1|ensembl:ENSG00000055044(gene)|ensembl:ENST00000264279(transcript)|go:"GO:0001094"(TFIID-class transcription factor complex binding)|go:"GO:0001650"(fibrillar center)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005732"("sno(s)RNA-containing ribonucleoprotein complex")|go:"GO:0005829"(cytosol)|go:"GO:0006364"(rRNA processing)|go:"GO:0015030"(Cajal body)|interpro:IPR002687(Pre-mRNA processing ribonucleoprotein, binding region)|interpro:IPR012974(NOP5, N-terminal)|go:"GO:0016020"(membrane)|interpro:IPR012976(NOSIC)|interpro:IPR036070|interpro:IPR042239|mint:Q9Y2X3|reactome:R-HSA-4570464|reactome:R-HSA-6790901|go:"GO:0030515"(snoRNA binding)|go:"GO:0031428"(box C/D RNP complex)|reactome:R-HSA-6791226|go:"GO:0032040"(small-subunit processome)|go:"GO:0048254"(snoRNA localization)|go:"GO:0051117"(ATPase binding)|go:"GO:0070761"(pre-snoRNP complex)|dip:DIP-32926N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:L7mE30ZNpQbKsQElFrrDMBQwG+w9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y3T9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-751547|uniprotkb:Q5SVA3|uniprotkb:Q9BTN6|ensembl:ENSP00000317992 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:noc2l_human(display_long)|uniprotkb:NOC2-like protein(gene name synonym)|uniprotkb:NOC2L(gene name)|psi-mi:NOC2L(display_short)|uniprotkb:NIR(gene name synonym)|uniprotkb:Novel INHAT repressor(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_056473.2|ensembl:ENSG00000188976(gene)|ensembl:ENST00000327044(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0002903"(negative regulation of B cell apoptotic process)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006915"(apoptotic process)|go:"GO:0030690"(Noc1p-Noc2p complex)|go:"GO:0030691"(Noc2p-Noc3p complex)|go:"GO:0031491"(nucleosome binding)|go:"GO:0031497"(chromatin assembly)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042273"(ribosomal large subunit biogenesis)|go:"GO:0042393"(histone binding)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:2001243"(negative regulation of intrinsic apoptotic signaling pathway)|interpro:IPR005343(Protein of unknown function UPF0120)|interpro:IPR016024(Armadillo-type fold)|mint:Q9Y3T9|reactome:R-HSA-6804756 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3QFBiahYEZ0/0O6A+SxvTO2kO0Y9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B7Z4M1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27045824|ensembl:ENSP00000440960 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b7z4m1_human(display_long)|uniprotkb:RTN3(gene name)|psi-mi:RTN3(display_short)|uniprotkb:hCG_1775344(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000133318(gene)|ensembl:ENST00000536011(transcript)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0016021"(integral component of membrane)|interpro:IPR003388(Reticulon) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:vjSOEu6rrPQstr9Nwml42B5jF4E9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96CK0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-12217757|intact:EBI-28987760|ensembl:ENSP00000293771|uniprotkb:Q96AS7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn653_human(display_long)|uniprotkb:ZNF653(gene name)|psi-mi:ZNF653(display_short)|uniprotkb:67 kDa zinc finger protein(gene name synonym)|uniprotkb:ZIP67(gene name synonym)|uniprotkb:Zinc finger protein Zip67(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000161914(gene)|ensembl:ENST00000293771(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003712"(transcription coregulator activity)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0008134"(transcription factor binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0050682"(AF-2 domain binding)|go:"GO:1900116"(extracellular negative regulation of signal transduction)|go:"GO:1903507"(negative regulation of nucleic acid-templated transcription)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|ensembl:ENSP00000293771|refseq:NP_620138.2 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fpj8SQ98sBwWa4FTjQKfhdFeVDk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0QXS5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11897460|ensembl:ENSP00000469349 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0qxs5_human(display_long)|uniprotkb:HNRNPL(gene name)|psi-mi:HNRNPL(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000104824(gene)|ensembl:ENST00000601449(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006397"(mRNA processing)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR006536(HnRNP-L/PTB/hephaestus splicing factor)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR021790|interpro:IPR034816|interpro:IPR034817|interpro:IPR035005|interpro:IPR035008|interpro:IPR035979 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:tMnqE8suzol5lFcvM9Vp1pf63DI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UHD8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-851542|uniprotkb:Q96QF3|uniprotkb:Q96QF4|uniprotkb:Q96QF5|uniprotkb:Q9HA04|uniprotkb:Q9UG40|uniprotkb:Q9Y5W4|uniprotkb:A8K2V3|uniprotkb:B3KPM0|uniprotkb:B4DTL9|uniprotkb:B4E0N2|uniprotkb:B4E274|uniprotkb:B7Z654|ensembl:ENSP00000391249 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sept9_human(display_long)|uniprotkb:SEPTIN9(gene name)|psi-mi:SEPTIN9(display_short)|uniprotkb:KIAA0991(gene name synonym)|uniprotkb:MLL septin-like fusion protein MSF-A(gene name synonym)|uniprotkb:MSF(gene name synonym)|uniprotkb:Ovarian/Breast septin(gene name synonym)|uniprotkb:SEPT9(gene name synonym)|uniprotkb:Septin D1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_006721706.1|refseq:XP_006721707.1|refseq:NP_001106963.1|refseq:NP_001106964.1|refseq:NP_001106965.1|refseq:NP_001106966.1|refseq:NP_001106967.1|refseq:NP_001106968.1|refseq:NP_006631.2|refseq:XP_016879520.1|refseq:XP_016879521.1|refseq:NP_001280624.1|refseq:NP_001280625.1|refseq:NP_001280626.1|refseq:NP_001280627.1|refseq:XP_011522509.1|refseq:XP_011522510.1|refseq:XP_005257019.1|dip:DIP-36697N|ensembl:ENSG00000184640(gene)|ensembl:ENST00000427177(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0005930"(axoneme)|go:"GO:0005940"(septin ring)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0031105"(septin complex)|go:"GO:0032153"(cell division site)|go:"GO:0034613"(cellular protein localization)|go:"GO:0045296"(cadherin binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0061640"(cytoskeleton-dependent cytokinesis)|go:"GO:0097730"(non-motile cilium)|go:"GO:1902857"(positive regulation of non-motile cilium assembly)|interpro:IPR016491(Septin)|interpro:IPR027417|interpro:IPR030379|interpro:IPR030645|mint:Q9UHD8|rcsb pdb:4YQF|rcsb pdb:5CYO|rcsb pdb:5CYP intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YzUn6hS5tAX/U+SJ8YzqzWW/dQI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F8VZ49 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043907|ensembl:ENSP00000447782 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f8vz49_human(display_long)|uniprotkb:HNRNPA1(gene name)|psi-mi:HNRNPA1(display_short)|uniprotkb:hnRNP core protein A1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000135486(gene)|ensembl:ENST00000548688(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0006397"(mRNA processing)|go:"GO:0008380"(RNA splicing)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034803|interpro:IPR034845|interpro:IPR035979 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2kQY19sXEH7ONmWWNe96nZYsuD49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15365 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-946095|uniprotkb:Q13157|uniprotkb:Q14975|ensembl:ENSP00000305556 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pcbp1_human(display_long)|uniprotkb:PCBP1(gene name)|psi-mi:PCBP1(display_short)|uniprotkb:Alpha-CP1(gene name synonym)|uniprotkb:Nucleic acid-binding protein SUB2.3(gene name synonym)|uniprotkb:Heterogeneous nuclear ribonucleoprotein E1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006187.2|dip:DIP-38136N|ensembl:ENSG00000169564(gene)|ensembl:ENST00000303577(transcript)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0003697"(single-stranded DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0039694"(viral RNA genome replication)|go:"GO:0045296"(cadherin binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0051252"(regulation of RNA metabolic process)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098847"(sequence-specific single stranded DNA binding)|interpro:IPR004087(K Homology)|interpro:IPR004088(K Homology, type 1)|interpro:IPR036612|mint:Q15365|rcsb pdb:1WVN|rcsb pdb:1ZTG|rcsb pdb:3VKE|reactome:R-HSA-72163|reactome:R-HSA-72203 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:x72fawo4plQ+ipfqIoREIDHc2bA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P54709 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1054481|uniprotkb:B7Z1N7|ensembl:ENSP00000286371 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:at1b3_human(display_long)|uniprotkb:Sodium/potassium-dependent ATPase subunit beta-3(gene name synonym)|uniprotkb:ATP1B3(gene name)|psi-mi:ATP1B3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001670.1|ensembl:ENSG00000069849(gene)|ensembl:ENST00000286371(transcript)|go:"GO:0001671"(ATPase activator activity)|go:"GO:0005391"("P-type sodium:potassium-exchanging transporter activity")|go:"GO:0005886"(plasma membrane)|go:"GO:0005890"("sodium:potassium-exchanging ATPase complex")|go:"GO:0005901"(caveola)|go:"GO:0006883"(cellular sodium ion homeostasis)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030674"(protein-macromolecule adaptor activity)|go:"GO:0032781"(positive regulation of ATP-dependent activity)|go:"GO:0035725"(sodium ion transmembrane transport)|go:"GO:0036126"(sperm flagellum)|go:"GO:0036376"(sodium ion export across plasma membrane)|go:"GO:0042470"(melanosome)|go:"GO:0050821"(protein stabilization)|go:"GO:0051117"(ATPase binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0086009"(membrane repolarization)|go:"GO:1901018"(positive regulation of potassium ion transmembrane transporter activity)|go:"GO:1903278"(positive regulation of sodium ion export across plasma membrane)|go:"GO:1903288"(positive regulation of potassium ion import across plasma membrane)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR000402(ATPase, P-type cation exchange, beta subunit)|interpro:IPR038702|mint:P54709|reactome:R-HSA-210991|reactome:R-HSA-5578775|reactome:R-HSA-936837|reactome:R-HSA-9679191|dip:DIP-50717N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:M7gSVe1bjKF7LqCZh/raoHBvp7M9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y230 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352939|ensembl:ENSP00000473172|uniprotkb:Q6FIB9|uniprotkb:Q6PK27|uniprotkb:Q9Y361|uniprotkb:B3KQ59|uniprotkb:E7ETE5|intact:EBI-1058527 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ruvb2_human(display_long)|uniprotkb:RUVBL2(gene name)|psi-mi:RUVBL2(display_short)|uniprotkb:TIP48(gene name synonym)|uniprotkb:TIP49B(gene name synonym)|uniprotkb:CGI-46(orf name)|uniprotkb:48 kDa TATA box-binding protein-interacting protein(gene name synonym)|uniprotkb:TIP49b(gene name synonym)|uniprotkb:Repressing pontin 52(gene name synonym)|uniprotkb:51 kDa erythrocyte cytosolic protein(gene name synonym)|uniprotkb:INO80J(gene name synonym)|uniprotkb:TIP60-associated protein 54-beta(gene name synonym)|uniprotkb:INO80 complex subunit J(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1904874"(positive regulation of telomerase RNA localization to Cajal body)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR010339(TIP49, C-terminal)|interpro:IPR027238|interpro:IPR027417|interpro:IPR037942|interpro:IPR041048|interpro:IPR042487|mint:Q9Y230|rcsb pdb:2CQA|rcsb pdb:2XSZ|rcsb pdb:3UK6|rcsb pdb:5OAF|rcsb pdb:6FO1|rcsb pdb:6H7X|rcsb pdb:6HTS|rcsb pdb:6IGM|rcsb pdb:6K0R|rcsb pdb:6QI8|rcsb pdb:6QI9|rcsb pdb:7AHO|reactome:R-HSA-171319|go:"GO:0140585"(promoter-enhancer loop anchoring activity)|reactome:R-HSA-3214847|ensembl:ENSG00000183207(gene)|ensembl:ENST00000595090(transcript)|go:"GO:0000492"(box C/D snoRNP assembly)|go:"GO:0000791"(euchromatin)|go:"GO:0000812"(Swr1 complex)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000979"(RNA polymerase II core promoter sequence-specific DNA binding)|go:"GO:0001094"(TFIID-class transcription factor complex binding)|go:"GO:0003678"(DNA helicase activity)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0006281"(DNA repair)|go:"GO:0006310"(DNA recombination)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006457"(protein folding)|go:"GO:0008013"(beta-catenin binding)|go:"GO:0016020"(membrane)|go:"GO:0016363"(nuclear matrix)|go:"GO:0017025"(TBP-class protein binding)|go:"GO:0031011"(Ino80 complex)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035066"(positive regulation of histone acetylation)|go:"GO:0035267"(NuA4 histone acetyltransferase complex)|go:"GO:0040008"(regulation of growth)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043139"(5'-3' DNA helicase activity)|go:"GO:0043531"(ADP binding)|go:"GO:0043967"(histone H4 acetylation)|go:"GO:0043968"(histone H2A acetylation)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051117"(ATPase binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071169"(establishment of protein localization to chromatin)|go:"GO:0071339"(MLL1 complex)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:0016573"(histone acetylation)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:0097255"(R2TP complex)|go:"GO:0120293"(dynein axonemal particle)|refseq:NP_006657.1|refseq:XP_011524632.1|refseq:NP_001308120.1|dip:DIP-28153N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:APKAWLDCJVULUP3nzqIaSLHKVN49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O00264 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1045534|uniprotkb:Q9UGJ9|ensembl:ENSP00000217971|uniprotkb:B7Z1L3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pgrc1_human(display_long)|uniprotkb:Dap1(gene name synonym)|uniprotkb:IZA(gene name synonym)|uniprotkb:PGRMC1(gene name)|psi-mi:PGRMC1(display_short)|uniprotkb:HPR6.6(gene name synonym)|uniprotkb:PGRMC(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001269550.1|ensembl:ENST00000217971(transcript)|go:"GO:0001540"(amyloid-beta binding)|go:"GO:0005496"(steroid binding)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006783"(heme biosynthetic process)|go:"GO:0012505"(endomembrane system)|go:"GO:0016020"(membrane)|go:"GO:0020037"(heme binding)|go:"GO:0030868"(smooth endoplasmic reticulum membrane)|go:"GO:0035579"(specific granule membrane)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043005"(neuron projection)|go:"GO:0043025"(neuronal cell body)|go:"GO:0044297"(cell body)|go:"GO:0045202"(synapse)|go:"GO:0046872"(metal ion binding)|interpro:IPR001199(Cytochrome b5)|interpro:IPR036400|mint:O00264|rcsb pdb:4X8Y|reactome:R-HSA-6798695|ensembl:ENSG00000101856(gene)|refseq:NP_006658.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fjKpwgj9042mPhLsvS/wu1wBEi89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P13987 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-297972|ensembl:ENSP00000340210|ensembl:ENSP00000379191|ensembl:ENSP00000403511|ensembl:ENSP00000404822|ensembl:ENSP00000410182|ensembl:ENSP00000432942|ensembl:ENSP00000494884|ensembl:ENSP00000498448|ensembl:ENSP00000498879|uniprotkb:E9PR17 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cd59_human(display_long)|uniprotkb:CD59(gene name)|psi-mi:CD59(display_short)|uniprotkb:Membrane attack complex inhibition factor(gene name synonym)|uniprotkb:MAC-inhibitory protein(gene name synonym)|uniprotkb:Protectin(gene name synonym)|uniprotkb:MEM43 antigen(gene name synonym)|uniprotkb:Membrane inhibitor of reactive lysis(gene name synonym)|uniprotkb:20 kDa homologous restriction factor(gene name synonym)|uniprotkb:1F5 antigen(gene name synonym)|uniprotkb:MIC11(gene name synonym)|uniprotkb:MIN1(gene name synonym)|uniprotkb:MIN2(gene name synonym)|uniprotkb:MIN3(gene name synonym)|uniprotkb:MSK21(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000602.1|refseq:NP_001120695.1|refseq:NP_001120697.1|refseq:NP_001120698.1|refseq:NP_001120699.1|refseq:NP_976074.1|refseq:NP_976075.1|refseq:NP_976076.1|ensembl:ENST00000395850(transcript)|ensembl:ENST00000415002(transcript)|ensembl:ENST00000437761(transcript)|ensembl:ENST00000445143(transcript)|ensembl:ENST00000527577(transcript)|ensembl:ENST00000642928(transcript)|ensembl:ENST00000651785(transcript)|ensembl:ENST00000652678(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001848"(complement binding)|go:"GO:0001971"(negative regulation of activation of membrane attack complex)|go:"GO:0005615"(extracellular space)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007166"(cell surface receptor signaling pathway)|go:"GO:0007596"(blood coagulation)|go:"GO:0009986"(cell surface)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0016020"(membrane)|go:"GO:0030133"(transport vesicle)|go:"GO:0030449"(regulation of complement activation)|go:"GO:0031362"(anchored component of external side of plasma membrane)|go:"GO:0031982"(vesicle)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0035579"(specific granule membrane)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:1903659"(regulation of complement-dependent cytotoxicity)|interpro:IPR016054(Ly-6 antigen / uPA receptor -like)|interpro:IPR018363|interpro:IPR027101|mint:P13987|rcsb pdb:1CDQ|rcsb pdb:1CDR|rcsb pdb:1CDS|rcsb pdb:1ERG|rcsb pdb:1ERH|rcsb pdb:2J8B|rcsb pdb:2OFS|rcsb pdb:2UWR|rcsb pdb:2UX2|rcsb pdb:4BIK|rcsb pdb:5IMT|rcsb pdb:5IMY|rcsb pdb:6ZD0|reactome:R-HSA-204005|reactome:R-HSA-5694530|reactome:R-HSA-6798695|reactome:R-HSA-6807878|reactome:R-HSA-977606|ensembl:ENSG00000085063(gene)|ensembl:ENST00000351554(transcript) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:l93Yw04Ax0xODyPzjFqaaMvqBeM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P49257 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1057738|uniprotkb:Q9UQG4|uniprotkb:Q9UQG5|uniprotkb:Q9UQG6|uniprotkb:Q9UQG7|uniprotkb:Q9UQG8|uniprotkb:Q9UQG9|uniprotkb:Q9UQH0|uniprotkb:Q9UQH1|uniprotkb:Q9UQH2|uniprotkb:Q12895|uniprotkb:Q8N5I7|uniprotkb:Q9UQG1|uniprotkb:Q9UQG2|uniprotkb:Q9UQG3|ensembl:ENSP00000251047 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lman1_human(display_long)|uniprotkb:LMAN1(gene name)|psi-mi:LMAN1(display_short)|uniprotkb:ERGIC53(gene name synonym)|uniprotkb:F5F8D(gene name synonym)|uniprotkb:ER-Golgi intermediate compartment 53 kDa protein(gene name synonym)|uniprotkb:Lectin mannose-binding 1(gene name synonym)|uniprotkb:Gp58(gene name synonym)|uniprotkb:Intracellular mannose-specific lectin MR60(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005561.1|ensembl:ENSG00000074695(gene)|ensembl:ENST00000251047(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005537"(mannose binding)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005829"(cytosol)|go:"GO:0006457"(protein folding)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0007029"(endoplasmic reticulum organization)|go:"GO:0007030"(Golgi organization)|go:"GO:0007596"(blood coagulation)|go:"GO:0010638"(positive regulation of organelle organization)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0015031"(protein transport)|go:"GO:0016020"(membrane)|go:"GO:0030017"(sarcomere)|go:"GO:0030134"(COPII-coated ER to Golgi transport vesicle)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0046872"(metal ion binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903215"(negative regulation of protein targeting to mitochondrion)|interpro:IPR005052(Legume-like lectin)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR033085|mint:P49257|rcsb pdb:3A4U|rcsb pdb:3LCP|rcsb pdb:3WHT|rcsb pdb:3WHU|rcsb pdb:3WNX|rcsb pdb:4GKX|rcsb pdb:4GKY|rcsb pdb:4YGB|rcsb pdb:4YGC|rcsb pdb:4YGD|rcsb pdb:4YGE|reactome:R-HSA-204005|reactome:R-HSA-5694530|reactome:R-HSA-8980692|reactome:R-HSA-9013106|reactome:R-HSA-9013404|reactome:R-HSA-9013405|reactome:R-HSA-9013408|go:"GO:0016021"(integral component of membrane)|reactome:R-HSA-948021|reactome:R-HSA-9013423|dip:DIP-42188N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:CWmvVATvXXjzMqSD0KjTBvmKKuI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PKL7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27045812|ensembl:ENSP00000431589 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pkl7_human(display_long)|uniprotkb:RAB2A(gene name)|psi-mi:RAB2A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000104388(gene)|ensembl:ENST00000529579(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Ban8BApXuagBOQqKNjin7+/bJa09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13185 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-78176|ensembl:ENSP00000336687|ensembl:ENSP00000379670|uniprotkb:Q96CD7|uniprotkb:Q99409|uniprotkb:Q9BVS3|uniprotkb:Q9P0Z6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cbx3_human(display_long)|uniprotkb:CBX3(gene name)|psi-mi:CBX3(display_short)|uniprotkb:Heterochromatin protein 1 homolog gamma(gene name synonym)|uniprotkb:Modifier 2 protein(gene name synonym)|uniprotkb:HECH(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0000791"(euchromatin)|go:"GO:0000792"(heterochromatin)|go:"GO:0001221"(transcription coregulator binding)|go:"GO:0005634"(nucleus)|go:"GO:0005635"(nuclear envelope)|ensembl:ENSG00000122565(gene)|ensembl:ENST00000337620(transcript)|ensembl:ENST00000396386(transcript)|go:"GO:0000775"(chromosome, centromeric region)|go:"GO:0000779"(condensed chromosome, centromeric region)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000785"(chromatin)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005721"(pericentric heterochromatin)|go:"GO:0005819"(spindle)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0019899"(enzyme binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0048511"(rhythmic process)|go:"GO:0090575"(RNA polymerase II transcription regulator complex)|go:"GO:0090734"(site of DNA damage)|go:"GO:1990226"(histone methyltransferase binding)|interpro:IPR000953(Chromo domain)|interpro:IPR008251(Chromo shadow)|interpro:IPR016197(Chromo domain-like)|interpro:IPR017984|interpro:IPR023779|interpro:IPR023780|interpro:IPR038033|mint:Q13185|rcsb pdb:2L11|rcsb pdb:3DM1|rcsb pdb:3KUP|rcsb pdb:3TZD|go:"GO:0005637"(nuclear inner membrane)|rcsb pdb:6HW2|reactome:R-HSA-427389|reactome:R-HSA-73772|reactome:R-HSA-8953750|rcsb pdb:5T1I|refseq:NP_009207.2|refseq:NP_057671.2|refseq:XP_005249668.1|dip:DIP-5985N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6L5OQHfxCBkmPV5Z0XihmXx4mFQ9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P27348 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-359854|uniprotkb:Q567U5|uniprotkb:Q5TZU8|uniprotkb:Q9UP48|uniprotkb:D6W4Z5|ensembl:ENSP00000238081|ensembl:ENSP00000371267 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:1433t_human(display_long)|uniprotkb:YWHAQ(gene name)|psi-mi:YWHAQ(display_short)|uniprotkb:14-3-3 protein tau(gene name synonym)|uniprotkb:14-3-3 protein T-cell(gene name synonym)|uniprotkb:Protein HS1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006817.1|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0021762"(substantia nigra development)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034766"(negative regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0045202"(synapse)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0047485"(protein N-terminus binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071889"(14-3-3 protein binding)|interpro:IPR000308(14-3-3 protein)|interpro:IPR023409|interpro:IPR023410|interpro:IPR036815|interpro:IPR042584|mint:P27348|rcsb pdb:2BTP|rcsb pdb:5IQP|rcsb pdb:6BCR|rcsb pdb:6BD2|rcsb pdb:6BQT|rcsb pdb:6KZG|rcsb pdb:6KZH|reactome:R-HSA-111447|reactome:R-HSA-1445148|reactome:R-HSA-5625740|reactome:R-HSA-5628897|reactome:R-HSA-75035|reactome:R-HSA-9614399|ensembl:ENSG00000134308(gene)|ensembl:ENST00000238081(transcript)|ensembl:ENST00000381844(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006605"(protein targeting)|go:"GO:0007264"(small GTPase mediated signal transduction)|go:"GO:0008022"(protein C-terminus binding)|dip:DIP-27584N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3I07h/wy8qcwUJqvO1RA76qnW5U9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KN67 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11062266|ensembl:ENSP00000271850 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3kn67_human(display_long)|uniprotkb:TPM3(gene name)|psi-mi:TPM3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000143549(gene)|ensembl:ENST00000271850(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005829"(cytosol)|go:"GO:0015629"(actin cytoskeleton)|interpro:IPR000533(Tropomyosin)|interpro:IPR014751(DNA double-strand break repair and VJ recombination XRCC4, C-terminal) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ORwA4GnzWM5y+kswG/juzD+ai8M9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04083 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354007|ensembl:ENSP00000257497|ensembl:ENSP00000366109|uniprotkb:B5BU38 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:anxa1_human(display_long)|uniprotkb:ANXA1(gene name)|psi-mi:ANXA1(display_short)|uniprotkb:ANX1(gene name synonym)|uniprotkb:LPC1(gene name synonym)|uniprotkb:Annexin-1(gene name synonym)|uniprotkb:Annexin I(gene name synonym)|uniprotkb:Lipocortin I(gene name synonym)|uniprotkb:Calpactin II(gene name synonym)|uniprotkb:Chromobindin-9(gene name synonym)|uniprotkb:p35(gene name synonym)|uniprotkb:Phospholipase A2 inhibitory protein(gene name synonym)|uniprotkb:Calpactin-2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000691.1|go:"GO:0016324"(apical plasma membrane)|go:"GO:0016328"(lateral plasma membrane)|go:"GO:0018149"(peptide cross-linking)|go:"GO:0019834"(phospholipase A2 inhibitor activity)|go:"GO:0019898"(extrinsic component of membrane)|go:"GO:0030073"(insulin secretion)|go:"GO:0030216"(keratinocyte differentiation)|go:"GO:0030850"(prostate gland development)|go:"GO:0031018"(endocrine pancreas development)|go:"GO:0031232"(extrinsic component of external side of plasma membrane)|go:"GO:0031313"(extrinsic component of endosome membrane)|go:"GO:0031340"(positive regulation of vesicle fusion)|go:"GO:0031394"(positive regulation of prostaglandin biosynthetic process)|go:"GO:0031514"(motile cilium)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031966"(mitochondrial membrane)|go:"GO:0031982"(vesicle)|go:"GO:0032355"(response to estradiol)|go:"GO:0032508"(DNA duplex unwinding)|go:"GO:0032652"(regulation of interleukin-1 production)|go:"GO:0032717"(negative regulation of interleukin-8 production)|go:"GO:0032743"(positive regulation of interleukin-2 production)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033031"(positive regulation of neutrophil apoptotic process)|go:"GO:0035924"(cellular response to vascular endothelial growth factor stimulus)|go:"GO:0036121"(double-stranded DNA helicase activity)|go:"GO:0042063"(gliogenesis)|go:"GO:0042102"(positive regulation of T cell proliferation)|go:"GO:0042383"(sarcolemma)|go:"GO:0042493"|go:"GO:0042629"(mast cell granule)|go:"GO:0042802"(identical protein binding)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043434"(response to peptide hormone)|go:"GO:0045087"(innate immune response)|go:"GO:0045627"(positive regulation of T-helper 1 cell differentiation)|go:"GO:0045629"(negative regulation of T-helper 2 cell differentiation)|go:"GO:0045920"(negative regulation of exocytosis)|go:"GO:0046632"(alpha-beta T cell differentiation)|ensembl:ENSG00000135046(gene)|ensembl:ENST00000257497(transcript)|ensembl:ENST00000376911(transcript)|go:"GO:0001533"(cornified envelope)|go:"GO:0001780"(neutrophil homeostasis)|go:"GO:0001891"(phagocytic cup)|go:"GO:0002250"(adaptive immune response)|go:"GO:0002548"(monocyte chemotaxis)|go:"GO:0002685"(regulation of leukocyte migration)|go:"GO:0003697"(single-stranded DNA binding)|go:"GO:0003727"(single-stranded RNA binding)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005543"(phospholipid binding)|go:"GO:0005544"(calcium-dependent phospholipid binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005768"(endosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0006909"(phagocytosis)|go:"GO:0006954"(inflammatory response)|go:"GO:0007165"(signal transduction)|go:"GO:0007166"(cell surface receptor signaling pathway)|go:"GO:0007187"(G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0009986"(cell surface)|go:"GO:0010165"(response to X-ray)|go:"GO:0014839"(myoblast migration involved in skeletal muscle regeneration)|go:"GO:0016323"(basolateral plasma membrane)|refseq:XP_011516911.1|dip:DIP-32875N|go:"GO:0046883"(regulation of hormone secretion)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070301"(cellular response to hydrogen peroxide)|go:"GO:0070365"(hepatocyte differentiation)|go:"GO:0070459"(prolactin secretion)|go:"GO:0070555"(response to interleukin-1)|go:"GO:0071385"(cellular response to glucocorticoid stimulus)|go:"GO:0071621"(granulocyte chemotaxis)|go:"GO:0090050"(positive regulation of cell migration involved in sprouting angiogenesis)|go:"GO:0090303"(positive regulation of wound healing)|go:"GO:0097060"(synaptic membrane)|go:"GO:0097350"(neutrophil clearance)|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|go:"GO:1900087"(positive regulation of G1/S transition of mitotic cell cycle)|go:"GO:1900138"(negative regulation of phospholipase A2 activity)|go:"GO:1990814"(DNA/DNA annealing activity)|interpro:IPR001464(Annexin)|interpro:IPR002388(Annexin, type I)|interpro:IPR018252|interpro:IPR018502|interpro:IPR037104|mint:P04083|rcsb pdb:1AIN|rcsb pdb:1BO9|rcsb pdb:1QLS|rcsb pdb:5VFW|reactome:R-HSA-416476|reactome:R-HSA-418594|reactome:R-HSA-444473|reactome:R-HSA-445355|reactome:R-HSA-6785807|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0050482"(arachidonic acid secretion)|go:"GO:0050709"(negative regulation of protein secretion)|go:"GO:0050727"(regulation of inflammatory response) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:QKmqz+UsAof35B/so2qKLQjn2v09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P22626 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-299649|ensembl:ENSP00000346694|ensembl:ENSP00000349101|ensembl:ENSP00000354021|ensembl:ENSP00000503360|ensembl:ENSP00000503476|ensembl:ENSP00000503514|ensembl:ENSP00000503885|ensembl:ENSP00000504329|uniprotkb:P22627|uniprotkb:A8K064|uniprotkb:Q9UC98|uniprotkb:Q9UDJ2|uniprotkb:A0A024RA27|uniprotkb:A0A024RA61 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:roa2_human(display_long)|uniprotkb:HNRNPA2B1(gene name)|psi-mi:HNRNPA2B1(display_short)|uniprotkb:HNRPA2B1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005737"(cytoplasm)|go:"GO:0006397"(mRNA processing)|go:"GO:0006406"(mRNA export from nucleus)|go:"GO:0015030"(Cajal body)|go:"GO:0016020"(membrane)|ensembl:ENST00000679001(transcript)|go:"GO:0016363"(nuclear matrix)|go:"GO:0031053"(primary miRNA processing)|go:"GO:0035198"(miRNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0043047"(single-stranded telomeric DNA binding)|go:"GO:0044806"(G-quadruplex DNA unwinding)|go:"GO:0050658"(RNA transport)|ensembl:ENST00000679021(transcript)|go:"GO:0070062"(extracellular exosome)|ensembl:ENST00000679123(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:0098505"(G-rich strand telomeric DNA binding)|go:"GO:1904358"(positive regulation of telomere maintenance via telomere lengthening)|go:"GO:1905663"(positive regulation of telomerase RNA reverse transcriptase activity)|go:"GO:1990247"(N6-methyladenosine-containing RNA binding)|go:"GO:1990428"(miRNA transport)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034486|interpro:IPR034489|interpro:IPR035979|mint:P22626|rcsb pdb:1X4B|rcsb pdb:5EN1|rcsb pdb:5HO4|rcsb pdb:5WWE|rcsb pdb:5WWF|rcsb pdb:5WWG|rcsb pdb:6WPQ|rcsb pdb:6WQK|reactome:R-HSA-72163|reactome:R-HSA-72203|reactome:R-HSA-8950505|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|ensembl:ENSG00000122566(gene)|ensembl:ENST00000354667(transcript)|ensembl:ENST00000356674(transcript)|ensembl:ENST00000360787(transcript)|ensembl:ENST00000676746(transcript)|ensembl:ENST00000678675(transcript)|refseq:NP_002128.1|refseq:NP_112533.1|dip:DIP-32877N|refseq:XP_005249786.1|refseq:XP_016867598.1|refseq:XP_016867599.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:N2NeJVio9eYQULNcdE1KXtd2KPw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:I3L0N3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10977666|ensembl:ENSP00000458221|ensembl:ENSP00000486150|ensembl:ENSP00000488015 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:i3l0n3_human(display_long)|uniprotkb:NSF(gene name)|psi-mi:NSF(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000073969(gene)|ensembl:ENSG00000276262(gene)|ensembl:ENSG00000278174(gene)|ensembl:ENST00000575068(transcript)|ensembl:ENST00000631254(transcript)|ensembl:ENST00000632125(transcript)|go:"GO:0005524"(ATP binding)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0015031"(protein transport)|go:"GO:0035494"(SNARE complex disassembly)|go:"GO:0046872"(metal ion binding)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR003338(AAA ATPase VAT, N-terminal)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR003959(AAA ATPase, core)|interpro:IPR003960(AAA ATPase, conserved site)|interpro:IPR004201(Cell division protein 48, CDC48, domain 2)|interpro:IPR009010(Aspartate decarboxylase-like fold)|interpro:IPR027417|interpro:IPR029067|interpro:IPR039812|interpro:IPR041569 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:vTGJqUJzbI+rWNNxpf9tvbqRGCk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P83111 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2878119|ensembl:ENSP00000261893|uniprotkb:P83096 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lactb_human(display_long)|uniprotkb:LACTB(gene name)|psi-mi:LACTB(display_short)|uniprotkb:MRPL56(gene name synonym)|uniprotkb:UNQ843/PRO1781(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000103642(gene)|ensembl:ENST00000261893(transcript)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|go:"GO:0006508"(proteolysis)|go:"GO:0006629"(lipid metabolic process)|go:"GO:0008233"(peptidase activity)|go:"GO:0019216"(regulation of lipid metabolic process)|go:"GO:0042802"(identical protein binding)|interpro:IPR001466(Beta-lactamase)|interpro:IPR012338(Beta-lactamase-type transpeptidase fold)|refseq:NP_116246.2|refseq:NP_741982.1|refseq:NP_001275514.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:idqlmN9YYs76X8+d8+4LALz5WjM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:D3YTB1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26962026|ensembl:ENSP00000412393 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:d3ytb1_human(display_long)|uniprotkb:RPL32(gene name)|psi-mi:RPL32(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000144713(gene)|ensembl:ENST00000457131(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001515(Ribosomal protein L32e)|interpro:IPR018263|interpro:IPR036351 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:G8plJkqXgk/i+lQizd4yiC2ZKRU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75165 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-4324603|uniprotkb:Q6ZSW1|uniprotkb:Q6ZUT5|uniprotkb:Q3L0T1|uniprotkb:Q6PI82|uniprotkb:Q6UJ77|uniprotkb:Q86XG3|uniprotkb:Q96DC1|uniprotkb:Q9BWK9|ensembl:ENSP00000260818 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:djc13_human(display_long)|uniprotkb:DNAJC13(gene name)|psi-mi:DNAJC13(display_short)|uniprotkb:KIAA0678(gene name synonym)|uniprotkb:RME8(gene name synonym)|uniprotkb:Required for receptor-mediated endocytosis 8(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_056083.3|ensembl:ENSG00000138246(gene)|ensembl:ENST00000260818(transcript)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0007032"(endosome organization)|go:"GO:0010008"(endosome membrane)|go:"GO:0015031"(protein transport)|go:"GO:0016020"(membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0035577"(azurophil granule membrane)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070062"(extracellular exosome)|go:"GO:1902954"(regulation of early endosome to recycling endosome transport)|go:"GO:2000641"(regulation of early endosome to late endosome transport)|interpro:IPR001623(Heat shock protein DnaJ, N-terminal)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR025640|go:"GO:0001649"(osteoblast differentiation)|interpro:IPR035445|interpro:IPR036869|mint:O75165|reactome:R-HSA-6798695 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:pCRan1osG3cVCkd4ayZqE5othPI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9JI46 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26886966|ensembl:ENSP00000371659 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9ji46_human(display_long)|uniprotkb:LCORL(gene name)|psi-mi:LCORL(display_short)|uniprotkb:MLR1(gene name synonym)|uniprotkb:hCG_1660774(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000178177(gene)|ensembl:ENST00000382224(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|interpro:IPR007889(Helix-turn-helix, Psq)|interpro:IPR009057(Homeodomain-like) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:MjyD0+eCUk2Z4kCvL4l+Gl5goK09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DGU4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10988240|ensembl:ENSP00000495286|ensembl:ENSP00000495426|ensembl:ENSP00000495794|ensembl:ENSP00000496067|ensembl:ENSP00000496295|ensembl:ENSP00000411226|ensembl:ENSP00000494467|ensembl:ENSP00000494780|ensembl:ENSP00000495161 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dgu4_human(display_long)|uniprotkb:CTNNB1(gene name)|psi-mi:CTNNB1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_006713046.1|refseq:XP_006713047.1|ensembl:ENST00000453024(transcript)|ensembl:ENST00000642836(transcript)|ensembl:ENST00000644524(transcript)|ensembl:ENST00000644678(transcript)|ensembl:ENST00000645493(transcript)|ensembl:ENST00000645900(transcript)|ensembl:ENST00000646116(transcript)|ensembl:ENST00000646174(transcript)|ensembl:ENST00000646381(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0007155"(cell adhesion)|go:"GO:0045296"(cadherin binding)|interpro:IPR000225(Armadillo)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR013284(Beta-catenin)|interpro:IPR016024(Armadillo-type fold)|ensembl:ENSG00000168036(gene)|refseq:NP_001317658.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:xMPvObanWwXwUS0m+Wiifzf/7Jw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61981 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-359832|uniprotkb:O70457|uniprotkb:P35214|uniprotkb:Q6FH52|uniprotkb:Q9UDP2|uniprotkb:Q9UN99|ensembl:ENSP00000306330 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:1433g_human(display_long)|uniprotkb:YWHAG(gene name)|psi-mi:YWHAG(display_short)|uniprotkb:Protein kinase C inhibitor protein 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036611.2|ensembl:ENSG00000170027(gene)|ensembl:ENST00000307630(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005159"(insulin-like growth factor receptor binding)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006469"(negative regulation of protein kinase activity)|go:"GO:0006605"(protein targeting)|go:"GO:0008426"(protein kinase C inhibitor activity)|go:"GO:0009966"(regulation of signal transduction)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030971"(receptor tyrosine kinase binding)|go:"GO:0032869"(cellular response to insulin stimulus)|go:"GO:0042802"(identical protein binding)|go:"GO:0045664"(regulation of neuron differentiation)|go:"GO:0048167"(regulation of synaptic plasticity)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098793"(presynapse)|interpro:IPR000308(14-3-3 protein)|interpro:IPR023409|interpro:IPR023410|interpro:IPR036815|mint:P61981|rcsb pdb:2B05|rcsb pdb:3UZD|rcsb pdb:4E2E|rcsb pdb:4J6S|rcsb pdb:4O46|rcsb pdb:5D3E|rcsb pdb:6A5S|rcsb pdb:6BYJ|rcsb pdb:6BYL|rcsb pdb:6BZD|rcsb pdb:6FEL|rcsb pdb:6GKF|rcsb pdb:6GKG|rcsb pdb:6S9K|rcsb pdb:6SAD|rcsb pdb:6Y4K|rcsb pdb:6Y6B|reactome:R-HSA-111447|reactome:R-HSA-1445148|reactome:R-HSA-2565942|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-5620912|reactome:R-HSA-5625740|reactome:R-HSA-5628897|reactome:R-HSA-75035|reactome:R-HSA-8854518|reactome:R-HSA-9614399|dip:DIP-33406N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:u1cd71h0RPgTOEMrQVhOelsxWnM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62979 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357375|ensembl:ENSP00000272317|ensembl:ENSP00000383981|ensembl:ENSP00000385659|uniprotkb:P14798|uniprotkb:Q6LBL4|uniprotkb:Q9BQ77|uniprotkb:P02248|uniprotkb:P02249|uniprotkb:P02250|uniprotkb:P62988|uniprotkb:Q29120|uniprotkb:Q6LDU5|uniprotkb:Q8WYN8|uniprotkb:Q91887|uniprotkb:Q91888|uniprotkb:Q9BWD6|uniprotkb:Q9BX98|uniprotkb:Q9UEF2|uniprotkb:Q9UEG1|uniprotkb:Q9UEK8|uniprotkb:Q9UPK7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs27a_human(display_long)|uniprotkb:RPS27A(gene name)|psi-mi:RPS27A(display_short)|uniprotkb:UBA80(gene name synonym)|uniprotkb:UBCEP1(gene name synonym)|uniprotkb:Ubiquitin carboxyl extension protein 80(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8863795|reactome:R-HSA-8866652|reactome:R-HSA-8866654|reactome:R-HSA-8875360|reactome:R-HSA-8876493|reactome:R-HSA-8932339|reactome:R-HSA-8939236|reactome:R-HSA-8939902|reactome:R-HSA-8941858|reactome:R-HSA-8948747|reactome:R-HSA-8948751|reactome:R-HSA-8854050|reactome:R-HSA-8951664|reactome:R-HSA-901032|reactome:R-HSA-9010553|reactome:R-HSA-9013507|reactome:R-HSA-9013973|reactome:R-HSA-9014325|reactome:R-HSA-9020702|reactome:R-HSA-9033241|reactome:R-HSA-912631|reactome:R-HSA-917729|reactome:R-HSA-917937|reactome:R-HSA-936440|reactome:R-HSA-936964|reactome:R-HSA-937039|reactome:R-HSA-937041|reactome:R-HSA-937042|reactome:R-HSA-937072|reactome:R-HSA-9604323|reactome:R-HSA-9613829|reactome:R-HSA-9615710|reactome:R-HSA-9633012|reactome:R-HSA-9636383|reactome:R-HSA-9637628|reactome:R-HSA-9645460|reactome:R-HSA-9646399|reactome:R-HSA-9648002|reactome:R-HSA-9664873|reactome:R-HSA-9683683|reactome:R-HSA-9694493|reactome:R-HSA-9705462|reactome:R-HSA-9706369|reactome:R-HSA-9706377|reactome:R-HSA-9708530|reactome:R-HSA-975110|reactome:R-HSA-975163|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-977225|reactome:R-HSA-983168|reactome:R-HSA-975144|ensembl:ENSG00000143947(gene)|ensembl:ENST00000272317(transcript)|ensembl:ENST00000402285(transcript)|ensembl:ENST00000404735(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0019941"(modification-dependent protein catabolic process)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0010008"(endosome membrane)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0031386"(protein tag)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0031982"(vesicle)|go:"GO:0046872"(metal ion binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000626(Ubiquitin)|interpro:IPR002906(Ribosomal protein S27a)|interpro:IPR011332(Ribosomal protein, zinc-binding)|interpro:IPR019954|interpro:IPR019956|interpro:IPR029071|interpro:IPR038582|mint:P62979|rcsb pdb:2KHW|rcsb pdb:2KOX|rcsb pdb:2KTF|rcsb pdb:2KWU|rcsb pdb:2KWV|rcsb pdb:2L0F|rcsb pdb:2L0T|rcsb pdb:2XK5|rcsb pdb:3AXC|rcsb pdb:3I3T|rcsb pdb:3K9P|rcsb pdb:3N30|rcsb pdb:3N32|rcsb pdb:3NHE|rcsb pdb:3NOB|rcsb pdb:3NS8|rcsb pdb:3PHD|rcsb pdb:3PHW|rcsb pdb:3TBL|rcsb pdb:3VDZ|rcsb pdb:4R62|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:6G18|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:5A2Q|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:5AJ0|rcsb pdb:6IP8|rcsb pdb:6J99|rcsb pdb:5FLX|rcsb pdb:6KFP|rcsb pdb:5LKS|rcsb pdb:6KG6|rcsb pdb:6KIU|rcsb pdb:6KIV|rcsb pdb:6KIW|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6SQO|rcsb pdb:5T2C|rcsb pdb:5WVO|rcsb pdb:6SQR|rcsb pdb:6SQS|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:5YDK|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6DC6|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:7K5I|reactome:R-HSA-110312|reactome:R-HSA-110314|reactome:R-HSA-110320|reactome:R-HSA-1169091|reactome:R-HSA-1169408|reactome:R-HSA-1234176|reactome:R-HSA-1236382|reactome:R-HSA-1236974|reactome:R-HSA-1253288|reactome:R-HSA-1295596|reactome:R-HSA-1358803|reactome:R-HSA-156827|reactome:R-HSA-156902|rcsb pdb:6ZXF|reactome:R-HSA-162588|reactome:R-HSA-168638|reactome:R-HSA-168927|reactome:R-HSA-168928|rcsb pdb:6ZXG|reactome:R-HSA-174048|reactome:R-HSA-174084|reactome:R-HSA-174113|reactome:R-HSA-174154|reactome:R-HSA-174178|reactome:R-HSA-174184|rcsb pdb:6ZXH|reactome:R-HSA-174490|reactome:R-HSA-175474|reactome:R-HSA-179409|reactome:R-HSA-1799339|reactome:R-HSA-180534|reactome:R-HSA-180585|reactome:R-HSA-182971|reactome:R-HSA-187577|rcsb pdb:7A09|rcsb pdb:7BWD|reactome:R-HSA-192823|reactome:R-HSA-195253|reactome:R-HSA-201681|reactome:R-HSA-2565942|reactome:R-HSA-202424|reactome:R-HSA-205043|reactome:R-HSA-2644606|reactome:R-HSA-2672351|reactome:R-HSA-209543|reactome:R-HSA-209560|reactome:R-HSA-2691232|reactome:R-HSA-2871837|reactome:R-HSA-2894862|reactome:R-HSA-2979096|reactome:R-HSA-3134975|reactome:R-HSA-3322077|reactome:R-HSA-349425|reactome:R-HSA-211733|reactome:R-HSA-3769402|reactome:R-HSA-3785653|reactome:R-HSA-382556|reactome:R-HSA-400253|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-450408|reactome:R-HSA-2122947|reactome:R-HSA-4608870|reactome:R-HSA-4641257|reactome:R-HSA-2122948|reactome:R-HSA-4641258|reactome:R-HSA-2173788|reactome:R-HSA-4641263|reactome:R-HSA-5205685|reactome:R-HSA-532668|reactome:R-HSA-2173791|reactome:R-HSA-5357905|reactome:R-HSA-2173795|reactome:R-HSA-2173796|reactome:R-HSA-2408557|reactome:R-HSA-2467813|reactome:R-HSA-5357956|reactome:R-HSA-5358346|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-5362768|reactome:R-HSA-5607761|reactome:R-HSA-2559585|reactome:R-HSA-5607764|reactome:R-HSA-5610780|reactome:R-HSA-5610783|reactome:R-HSA-5610785|reactome:R-HSA-5632684|reactome:R-HSA-5654726|reactome:R-HSA-5654727|reactome:R-HSA-5654732|reactome:R-HSA-5654733|reactome:R-HSA-5655862|reactome:R-HSA-5656169|reactome:R-HSA-5656121|reactome:R-HSA-5658442|reactome:R-HSA-5668541|reactome:R-HSA-5675221|reactome:R-HSA-5675482|reactome:R-HSA-5676590|reactome:R-HSA-5678895|reactome:R-HSA-5684264|reactome:R-HSA-5685942|reactome:R-HSA-5687128|reactome:R-HSA-5689603|reactome:R-HSA-5689877|reactome:R-HSA-5689880|reactome:R-HSA-5689896|reactome:R-HSA-5689901|reactome:R-HSA-5693565|reactome:R-HSA-5693607|reactome:R-HSA-5696394|reactome:R-HSA-5696395|reactome:R-HSA-5696397|reactome:R-HSA-5696400|reactome:R-HSA-6781823|reactome:R-HSA-6781827|reactome:R-HSA-6782135|reactome:R-HSA-6782210|reactome:R-HSA-6783310|reactome:R-HSA-6791226|reactome:R-HSA-6804756|reactome:R-HSA-6804757|reactome:R-HSA-6804760|reactome:R-HSA-6807004|reactome:R-HSA-68827|reactome:R-HSA-68949|reactome:R-HSA-69017|reactome:R-HSA-69231|reactome:R-HSA-69481|reactome:R-HSA-69541|reactome:R-HSA-69601|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-75815|reactome:R-HSA-8849469|reactome:R-HSA-8852276|refseq:NP_001129064.1|refseq:NP_001170884.1|refseq:NP_002945.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2LSJafy6vjKHYZcZVx8zZaOXRis9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BQE3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1103245|ensembl:ENSP00000301072 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tba1c_human(display_long)|uniprotkb:TUBA1C(gene name)|psi-mi:TUBA1C(display_short)|uniprotkb:TUBA6(gene name synonym)|uniprotkb:Tubulin alpha-6 chain(gene name synonym)|uniprotkb:Alpha-tubulin 6(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|ensembl:ENSG00000167553(gene)|ensembl:ENST00000301072(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0005881"(cytoplasmic microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0030705"(cytoskeleton-dependent intracellular transport)|go:"GO:0031982"(vesicle)|go:"GO:0051301"(cell division)|interpro:IPR000217(Tubulin)|interpro:IPR002452(Alpha tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:Q9BQE3|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|refseq:NP_116093.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:53r1CNUJNgCreVCw4riUsTPh+yw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P50914 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356746|uniprotkb:Q45RF0|uniprotkb:Q53G20|uniprotkb:Q8TBD5|uniprotkb:Q8WUT0|uniprotkb:Q92579|uniprotkb:Q96GR0|uniprotkb:Q9BSB8|uniprotkb:Q9BW65|uniprotkb:Q9BYF6|ensembl:ENSP00000345156|ensembl:ENSP00000379506 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl14_human(display_long)|uniprotkb:RPL14(gene name)|psi-mi:RPL14(display_short)|uniprotkb:CAG-ISL 7(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL14(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001030168.1|refseq:NP_003964.3|go:"GO:0045296"(cadherin binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002784(Ribosomal protein L14)|interpro:IPR008991(Translation protein SH3-like)|ensembl:ENSG00000188846(gene)|ensembl:ENST00000338970(transcript)|ensembl:ENST00000396203(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005829"(cytosol)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042273"(ribosomal large subunit biogenesis)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR041985|mint:P50914|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|interpro:IPR039660|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6Y2L intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:AjaguD5hgHtcBbJq5QfuG6XdTcE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UQ03 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-723376|uniprotkb:O94767|uniprotkb:Q8TAN1|uniprotkb:A8K0W3|ensembl:ENSP00000261861 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cor2b_human(display_long)|uniprotkb:Coronin-like protein C(gene name synonym)|uniprotkb:Protein FC96(gene name synonym)|uniprotkb:CORO2B(gene name)|psi-mi:CORO2B(display_short)|uniprotkb:KIAA0925(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001177385.1|refseq:NP_001177386.1|refseq:NP_006082.3|refseq:NP_001310943.1|refseq:NP_001310944.1|ensembl:ENSG00000103647(gene)|ensembl:ENST00000261861(transcript)|go:"GO:0003093"(regulation of glomerular filtration)|go:"GO:0003779"(actin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005925"(focal adhesion)|go:"GO:0010812"(negative regulation of cell-substrate adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0017166"(vinculin binding)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0032956"(regulation of actin cytoskeleton organization)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0051015"(actin filament binding)|go:"GO:0051497"(negative regulation of stress fiber assembly)|go:"GO:0080135"(regulation of cellular response to stress)|go:"GO:1904950"(negative regulation of establishment of protein localization)|go:"GO:1904951"(positive regulation of establishment of protein localization)|go:"GO:1990147"(talin binding)|interpro:IPR001680(WD40 repeat)|interpro:IPR015048(Region of unknown function DUF1899)|interpro:IPR015505(Coronin)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR027339|interpro:IPR036322 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7KUlG6rFuomPMKz+8jqEzXKFsN89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DY08 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-5280071|ensembl:ENSP00000338095|ensembl:ENSP00000450548 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dy08_human(display_long)|uniprotkb:HNRNPC(gene name)|psi-mi:HNRNPC(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000092199(gene)|ensembl:ENST00000336053(transcript)|ensembl:ENST00000553753(transcript)|go:"GO:0003723"(RNA binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR017347(Heterogeneous nuclear ribonucleoprotein C, Raly)|interpro:IPR035979 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HcgkZx39n1zM/h/T3e/HHG21NEA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P26006 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2550768|uniprotkb:B7ZM80|ensembl:ENSP00000315190|uniprotkb:A7E246|uniprotkb:B9EGQ1|uniprotkb:D3DTX4|uniprotkb:D3DTX5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ita3_human(display_long)|uniprotkb:ITGA3(gene name)|psi-mi:ITGA3(display_short)|uniprotkb:MSK18(gene name synonym)|uniprotkb:Galactoprotein B3(gene name synonym)|uniprotkb:VLA-3 subunit alpha(gene name synonym)|uniprotkb:FRP-2(gene name synonym)|uniprotkb:CD49 antigen-like family member C(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0042493"|go:"GO:0043235"(receptor complex)|go:"GO:0043236"(laminin binding)|go:"GO:0043588"(skin development)|go:"GO:0046872"(metal ion binding)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0048333"(mesodermal cell differentiation)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0060076"(excitatory synapse)|go:"GO:0060135"(maternal process involved in female pregnancy)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071944"(cell periphery)|go:"GO:0072006"(nephron development)|go:"GO:0097060"(synaptic membrane)|go:"GO:0097062"(dendritic spine maintenance)|go:"GO:0097205"(renal filtration)|go:"GO:0035640"(exploration behavior)|go:"GO:1990812"(growth cone filopodium)|interpro:IPR000413(Integrins alpha chain)|interpro:IPR013517(FG-GAP)|interpro:IPR013519(Integrin alpha beta-propellor)|interpro:IPR013649(Integrin alpha-2)|interpro:IPR018184|interpro:IPR028994|interpro:IPR032695|mint:P26006|reactome:R-HSA-210991|reactome:R-HSA-216083|reactome:R-HSA-3000157|reactome:R-HSA-8874081|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|ensembl:ENSG00000005884(gene)|ensembl:ENST00000320031(transcript)|go:"GO:0001764"(neuron migration)|go:"GO:0001968"(fibronectin binding)|go:"GO:0002020"(protease binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005518"(collagen binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0007507"(heart development)|go:"GO:0007613"(memory)|go:"GO:0008305"(integrin complex)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0010634"(positive regulation of epithelial cell migration)|go:"GO:0010811"(positive regulation of cell-substrate adhesion)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0017015"(regulation of transforming growth factor beta receptor signaling pathway)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030111"(regulation of Wnt signaling pathway)|go:"GO:0030324"(lung development)|go:"GO:0030510"(regulation of BMP signaling pathway)|go:"GO:0031345"(negative regulation of cell projection organization)|go:"GO:0031527"(filopodium membrane)|go:"GO:0034667"(integrin alpha3-beta1 complex)|go:"GO:0034698"(response to gonadotropin)|go:"GO:0035024"(negative regulation of Rho protein signal transduction)|refseq:NP_002195.1|dip:DIP-140N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:gmrsTA4D01ARM8U0n7b2HBjo9vs9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A8MQB8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043524|ensembl:ENSP00000359508 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a8mqb8_human(display_long)|uniprotkb:FMR1(gene name)|psi-mi:FMR1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000102081(gene)|ensembl:ENST00000370477(transcript)|go:"GO:0000775"(chromosome, centromeric region)|go:"GO:0003729"(mRNA binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006397"(mRNA processing)|go:"GO:0006417"(regulation of translation)|go:"GO:0007399"(nervous system development)|go:"GO:0008380"(RNA splicing)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0030426"(growth cone)|go:"GO:0032433"(filopodium tip)|go:"GO:0042734"(presynaptic membrane)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0048471"(perinuclear region of cytoplasm)|interpro:IPR004087(K Homology)|interpro:IPR004088(K Homology, type 1)|interpro:IPR008395(Agenet)|interpro:IPR022034|interpro:IPR032196|interpro:IPR036612|interpro:IPR040148|interpro:IPR040472|interpro:IPR041560 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ufPoEV8KJ7kib9gc02zzKA63BV89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7END7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043720|ensembl:ENSP00000386672 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7end7_human(display_long)|uniprotkb:RAB1A(gene name)|psi-mi:RAB1A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138069(gene)|ensembl:ENST00000409751(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:SO791iecoC4+QQ0u1z+zzyPNbcE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DR52 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21357538 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dr52_human(display_long) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0046982"(protein heterodimerization activity)|rcsb pdb:7BG9|interpro:IPR009072(Histone-fold)|interpro:IPR007125(Histone core)|interpro:IPR000558(Histone H2B) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:yuMvD088vLfoSAYLEcV3evV+1T09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46013 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-876367|uniprotkb:Q5VWH2|ensembl:ENSP00000357643 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ki67_human(display_long)|uniprotkb:MKI67(gene name)|psi-mi:MKI67(display_short)|uniprotkb:Antigen identified by monoclonal antibody Ki-67(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001139438.1|refseq:NP_002408.3|dip:DIP-28132N|ensembl:ENSG00000148773(gene)|ensembl:ENST00000368654(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0007049"(cell cycle)|go:"GO:0007088"(regulation of mitotic nuclear division)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008283"(cell population proliferation)|go:"GO:0016020"(membrane)|go:"GO:0016604"(nuclear body)|go:"GO:0051983"(regulation of chromosome segregation)|go:"GO:1902275"(regulation of chromatin organization)|interpro:IPR000253(Forkhead-associated)|interpro:IPR008984(SMAD/FHA domain)|interpro:IPR012568(K167R)|interpro:IPR029334|mint:P46013|rcsb pdb:1R21|rcsb pdb:2AFF|rcsb pdb:5J28 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kyrLLOv4HSqah1Y6HtzebG978Kw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9JYN0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27045801|ensembl:ENSP00000419070 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9jyn0_human(display_long)|uniprotkb:SYPL1(gene name)|psi-mi:SYPL1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000008282(gene)|ensembl:ENST00000470347(transcript)|go:"GO:0008021"(synaptic vesicle)|go:"GO:0016021"(integral component of membrane)|interpro:IPR001285(Synaptophysin/synaptoporin)|interpro:IPR008253(Marvel) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:zfUe9e7gfQKD8ih04NGWlMhfSMg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q12797 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2967294|ensembl:ENSP00000368767|uniprotkb:B4E2K4|uniprotkb:F5H667|uniprotkb:Q9NRI0|uniprotkb:Q9Y4J0|uniprotkb:Q9H2C4|uniprotkb:A6NDF4|uniprotkb:Q9NRI1|uniprotkb:A6NHI2|uniprotkb:B4DIC9|uniprotkb:B7ZM95|uniprotkb:E5RGP5|uniprotkb:Q6NXR7|uniprotkb:Q8TB28|uniprotkb:Q9H291|intact:EBI-8994140|uniprotkb:A0A0A0MSK8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:asph_human(display_long)|uniprotkb:ASPH(gene name)|psi-mi:ASPH(display_short)|uniprotkb:Aspartate beta-hydroxylase(gene name synonym)|uniprotkb:Peptide-aspartate beta-dioxygenase(gene name synonym)|uniprotkb:BAH(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000198363(gene)|ensembl:ENST00000379454(transcript)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005513"(detection of calcium ion)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0006936"(muscle contraction)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0009055"(electron transfer activity)|go:"GO:0010524"(positive regulation of calcium ion transport into cytosol)|go:"GO:0010649"(regulation of cell communication by electrical coupling)|go:"GO:0010880"(regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum)|go:"GO:0010881"(regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion)|go:"GO:0014701"(junctional sarcoplasmic reticulum membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030176"(integral component of endoplasmic reticulum membrane)|go:"GO:0031585"(regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity)|go:"GO:0032237"(activation of store-operated calcium channel activity)|go:"GO:0032541"(cortical endoplasmic reticulum)|go:"GO:0033017"(sarcoplasmic reticulum membrane)|go:"GO:0033018"(sarcoplasmic reticulum lumen)|go:"GO:0033198"(response to ATP)|go:"GO:0034704"(calcium channel complex)|go:"GO:0042264"(peptidyl-aspartic acid hydroxylation)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0045862"(positive regulation of proteolysis)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0055074"(calcium ion homeostasis)|go:"GO:0060314"(regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0060316"(positive regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0062101"(peptidyl-aspartic acid 3-dioxygenase activity)|go:"GO:0070588"(calcium ion transmembrane transport)|go:"GO:0071277"(cellular response to calcium ion)|go:"GO:0090316"(positive regulation of intracellular protein transport)|go:"GO:0097202"(activation of cysteine-type endopeptidase activity)|interpro:IPR007803(Aspartyl/Asparaginyl beta-hydroxylase)|interpro:IPR007943(Aspartyl beta-hydroxylase, N-terminal)|interpro:IPR011990(Tetratricopeptide-like helical)|rcsb pdb:5APA|rcsb pdb:5JQY|interpro:IPR019734|rcsb pdb:5JTC|interpro:IPR027443|interpro:IPR039038|rcsb pdb:5JZ6|mint:Q12797|rcsb pdb:5JZ8|rcsb pdb:5JZA|rcsb pdb:5JZU|rcsb pdb:6Q9F|rcsb pdb:6Q9I|rcsb pdb:6QA5|rcsb pdb:6RK9|rcsb pdb:6YYU|rcsb pdb:6YYV|rcsb pdb:6YYW|rcsb pdb:6YYX|rcsb pdb:6YYY|rcsb pdb:6Z6Q|rcsb pdb:6Z6R|rcsb pdb:7BMI|rcsb pdb:7BMJ|rcsb pdb:7E6J|reactome:R-HSA-5578775|reactome:R-HSA-2672351|refseq:NP_001158222.1|refseq:NP_004309.2|refseq:NP_064549.1|refseq:NP_115855.1|refseq:NP_115856.1|refseq:NP_001158223.1|refseq:NP_001158225.1|refseq:NP_001158227.1|refseq:NP_001158228.1|refseq:NP_115857.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8Sv1CuwqdVCK6/PF6kL0hkX3/tw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92769 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-301821|uniprotkb:Q5SRI8|uniprotkb:Q5SZ86|uniprotkb:Q8NEH4|uniprotkb:B4DL58|ensembl:ENSP00000430432|uniprotkb:E1P561|uniprotkb:B3KRS5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hdac2_human(display_long)|uniprotkb:HDAC2(gene name)|psi-mi:HDAC2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0009913"(epidermal cell differentiation)|go:"GO:0010718"(positive regulation of epithelial to mesenchymal transition)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0016358"(dendrite development)|go:"GO:0016575"(histone deacetylation)|go:"GO:0016580"(Sin3 complex)|go:"GO:0016581"(NuRD complex)|go:"GO:0019213"(deacetylase activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0031000"(response to caffeine)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0032041"("NAD-dependent histone deacetylase activity (H3-K14 specific)")|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032732"(positive regulation of interleukin-1 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032967"(positive regulation of collagen biosynthetic process)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033558"(protein deacetylase activity)|go:"GO:0034605"(cellular response to heat)|go:"GO:0035094"(response to nicotine)|go:"GO:0035098"("ESC/E(Z) complex")|go:"GO:0042220"(response to cocaine)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0042493"|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042733"(embryonic digit morphogenesis)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043044"|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043392"(negative regulation of DNA binding)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045347"(negative regulation of MHC class II biosynthetic process)|go:"GO:0045862"(positive regulation of proteolysis)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048149"(behavioral response to ethanol)|go:"GO:0004407"(histone deacetylase activity)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0055093"(response to hyperoxia)|go:"GO:0060789"(hair follicle placode formation)|go:"GO:0061000"(negative regulation of dendritic spine development)|go:"GO:0061029"(eyelid development in camera-type eye)|go:"GO:0061198"(fungiform papilla formation)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070301"(cellular response to hydrogen peroxide)|go:"GO:0070829"(obsolete heterochromatin maintenance)|go:"GO:0070932"(histone H3 deacetylation)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:0071300"(cellular response to retinoic acid)|go:"GO:0071560"(cellular response to transforming growth factor beta stimulus)|go:"GO:1902437"(positive regulation of male mating behavior)|go:"GO:1903351"(cellular response to dopamine)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:2000273"(positive regulation of signaling receptor activity)|go:"GO:2000757"(negative regulation of peptidyl-lysine acetylation)|interpro:IPR000286(Histone deacetylase superfamily)|interpro:IPR003084(Histone deacetylase)|interpro:IPR023696|interpro:IPR023801|interpro:IPR037138|mint:Q92769|rcsb pdb:3MAX|rcsb pdb:4LXZ|rcsb pdb:4LY1|rcsb pdb:5IWG|rcsb pdb:5IX0|rcsb pdb:6G3O|rcsb pdb:6WBW|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|ensembl:ENSG00000196591(gene)|ensembl:ENST00000519065(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0001975"(response to amphetamine)|go:"GO:0003300"(cardiac muscle hypertrophy)|go:"GO:0003682"(chromatin binding)|go:"GO:0003723"(RNA binding)|rcsb pdb:6WHN|rcsb pdb:6WHO|rcsb pdb:6WHQ|rcsb pdb:6WHZ|rcsb pdb:6WI3|rcsb pdb:6XDM|rcsb pdb:6XEB|rcsb pdb:6XEC|rcsb pdb:7KBG|rcsb pdb:7KBH|rcsb pdb:7LTG|rcsb pdb:7LTK|rcsb pdb:7LTL|reactome:R-HSA-193670|reactome:R-HSA-2122947|reactome:R-HSA-2644606|reactome:R-HSA-2894862|reactome:R-HSA-3214815|reactome:R-HSA-350054|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-4551638|reactome:R-HSA-6804758|reactome:R-HSA-73762|reactome:R-HSA-8943724|reactome:R-HSA-9022692|reactome:R-HSA-9022699|reactome:R-HSA-9615017|reactome:R-HSA-9619665|reactome:R-HSA-9679191|reactome:R-HSA-983231|rcsb pdb:6WBZ|refseq:NP_001518.3|dip:DIP-24220N|refseq:XP_011534090.1|refseq:XP_016866288.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:K4PpGz9E9/TrQZsgvrJuc+uYCn89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P14618 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353408|uniprotkb:A6NFK3|uniprotkb:P14786|uniprotkb:Q53GK4|uniprotkb:Q96E76|uniprotkb:Q9BWB5|uniprotkb:Q9UPF2|uniprotkb:B2R5N8|uniprotkb:B3KRY0|uniprotkb:B4DFX8|uniprotkb:Q9UCV6|intact:EBI-2555890|uniprotkb:B4DUU6|ensembl:ENSP00000334983 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:kpym_human(display_long)|uniprotkb:PKM(gene name)|psi-mi:PKM(display_short)|uniprotkb:Cytosolic thyroid hormone-binding protein(gene name synonym)|uniprotkb:OIP3(gene name synonym)|uniprotkb:Opa-interacting protein 3(gene name synonym)|uniprotkb:PK2(gene name synonym)|uniprotkb:PK3(gene name synonym)|uniprotkb:PKM2(gene name synonym)|uniprotkb:Pyruvate kinase 2/3(gene name synonym)|uniprotkb:Pyruvate kinase muscle isozyme(gene name synonym)|uniprotkb:Thyroid hormone-binding protein 1(gene name synonym)|uniprotkb:Tumor M2-PK(gene name synonym)|uniprotkb:p58(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001193725.1|refseq:NP_001193727.1|refseq:NP_001193728.1|refseq:NP_002645.3|refseq:NP_872270.1|refseq:NP_872271.1|refseq:NP_001193726.1|refseq:NP_001303247.1|refseq:XP_005254502.1|dip:DIP-31273N|ensembl:ENSG00000067225(gene)|ensembl:ENST00000335181(transcript)|go:"GO:0000287"(magnesium ion binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0004743"(pyruvate kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005929"(cilium)|go:"GO:0006096"(glycolytic process)|go:"GO:0012501"(programmed cell death)|go:"GO:0016301"(kinase activity)|go:"GO:0023026"(MHC class II protein complex binding)|go:"GO:0030955"(potassium ion binding)|go:"GO:0031982"(vesicle)|go:"GO:0032869"(cellular response to insulin stimulus)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0045296"(cadherin binding)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1903672"(positive regulation of sprouting angiogenesis)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:2000767"(positive regulation of cytoplasmic translation)|interpro:IPR001697(Pyruvate kinase)|interpro:IPR011037(Pyruvate kinase, beta-barrel-like)|interpro:IPR015793(Pyruvate kinase, barrel)|interpro:IPR015795(Pyruvate kinase, C-terminal-like)|interpro:IPR015806(Pyruvate kinase, beta-barrel)|interpro:IPR015813(Pyruvate/Phosphoenolpyruvate kinase, catalytic core)|interpro:IPR018209|interpro:IPR036918|interpro:IPR040442|mint:P14618|rcsb pdb:1T5A|rcsb pdb:1ZJH|rcsb pdb:3BJF|rcsb pdb:3BJT|rcsb pdb:3G2G|rcsb pdb:3GQY|rcsb pdb:3GR4|rcsb pdb:3H6O|rcsb pdb:3ME3|rcsb pdb:3SRD|rcsb pdb:3SRF|rcsb pdb:3U2Z|rcsb pdb:4B2D|rcsb pdb:4FXF|rcsb pdb:4FXJ|rcsb pdb:4G1N|rcsb pdb:4JPG|rcsb pdb:4QG6|rcsb pdb:4QG8|rcsb pdb:4QG9|rcsb pdb:4QGC|rcsb pdb:4RPP|rcsb pdb:4WJ8|rcsb pdb:4YJ5|rcsb pdb:5X0I|rcsb pdb:5X1V|rcsb pdb:5X1W|rcsb pdb:6B6U|rcsb pdb:6GG3|rcsb pdb:6GG4|rcsb pdb:6GG5|rcsb pdb:6GG6|rcsb pdb:6JFB|rcsb pdb:6NU1|rcsb pdb:6NU5|rcsb pdb:6NUB|rcsb pdb:6TTF|rcsb pdb:6TTH|rcsb pdb:6TTI|rcsb pdb:6TTQ|rcsb pdb:6V74|rcsb pdb:3SRH|rcsb pdb:6V75|rcsb pdb:6V76|rcsb pdb:6WP3|rcsb pdb:6WP4|rcsb pdb:6WP5|rcsb pdb:6WP6|reactome:R-HSA-6798695|reactome:R-HSA-70171|refseq:XP_016877802.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dDaoXCaqd0x6qFSElvngHusttuk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PMI6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11068399|ensembl:ENSP00000434963 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pmi6_human(display_long)|uniprotkb:CLNS1A(gene name)|psi-mi:CLNS1A(display_short)|uniprotkb:Chloride conductance regulatory protein ICln(gene name synonym)|uniprotkb:Methylosome subunit pICln(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001298131.1|ensembl:ENSG00000074201(gene)|ensembl:ENST00000532069(transcript)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006821"(chloride transport)|go:"GO:0006884"(cell volume homeostasis)|go:"GO:0034709"(methylosome)|go:"GO:0034715"(pICln-Sm protein complex)|interpro:IPR003521(Nucleotide-sensitive chloride conductance regulator)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR039924 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Zu8snHJAxCmZMH7Kd7UdeRbjiUo9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15392 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-5457558|uniprotkb:B7Z817|ensembl:ENSP00000360316|ensembl:ENSP00000416585|uniprotkb:D3DQ51|uniprotkb:Q9HBA8|intact:EBI-10964490 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dhc24_human(display_long)|uniprotkb:DHCR24(gene name)|psi-mi:DHCR24(display_short)|uniprotkb:KIAA0018(gene name synonym)|uniprotkb:24-dehydrocholesterol reductase(gene name synonym)|uniprotkb:Diminuto/dwarf1 homolog(gene name synonym)|uniprotkb:Seladin-1(gene name synonym)|uniprotkb:3-beta-hydroxysterol Delta-24-reductase(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000116133(gene)|ensembl:ENST00000371269(transcript)|ensembl:ENST00000436604(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000246"("delta24(24-1) sterol reductase activity")|go:"GO:0005634"(nucleus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0006695"(cholesterol biosynthetic process)|go:"GO:0006915"(apoptotic process)|go:"GO:0006979"(response to oxidative stress)|go:"GO:0007265"(Ras protein signal transduction)|go:"GO:0008104"(protein localization)|go:"GO:0008202"(steroid metabolic process)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0009725"(response to hormone)|go:"GO:0009888"(tissue development)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016628"(oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor)|go:"GO:0019899"(enzyme binding)|go:"GO:0030539"(male genitalia development)|go:"GO:0031639"(plasminogen activation)|go:"GO:0033489"(cholesterol biosynthetic process via desmosterol)|go:"GO:0033490"(cholesterol biosynthetic process via lathosterol)|go:"GO:0042605"(peptide antigen binding)|go:"GO:0042987"(amyloid precursor protein catabolic process)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043154"(negative regulation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0043588"(skin development)|go:"GO:0050614"(delta24-sterol reductase activity)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0061024"(membrane organization)|go:"GO:0071949"(FAD binding)|go:"GO:1901214"(regulation of neuron death)|interpro:IPR006094(FAD linked oxidase, N-terminal)|interpro:IPR016166(FAD-binding, type 2)|interpro:IPR016169(CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2)|interpro:IPR036318|interpro:IPR040165|go:"GO:0005737"(cytoplasm)|mint:Q15392|reactome:R-HSA-6807047|reactome:R-HSA-6807062|refseq:NP_055577.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kg8bxZHxFFTUmvP9UQMeVFRNWQM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0R0P8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044235|ensembl:ENSP00000471367 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0r0p8_human(display_long)|uniprotkb:MYO9B(gene name)|psi-mi:MYO9B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000099331(gene)|ensembl:ENST00000594824(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0003779"(actin binding)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005829"(cytosol)|go:"GO:0007266"(Rho protein signal transduction)|go:"GO:0016459"(myosin complex)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0046872"(metal ion binding)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR000159(Ras-association)|interpro:IPR000198(RhoGAP)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002219(Protein kinase C, phorbol ester/diacylglycerol binding)|interpro:IPR008936(Rho GTPase activation protein)|interpro:IPR027417|interpro:IPR028557|interpro:IPR029071|interpro:IPR036023|interpro:IPR036961 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:+hdgrQMHg0aC6zFXtzuX3zmnfJI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P20645 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2907262|ensembl:ENSP00000000412|uniprotkb:A8K528|uniprotkb:D3DUV5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mprd_human(display_long)|uniprotkb:M6PR(gene name)|psi-mi:M6PR(display_short)|uniprotkb:MPR46(gene name synonym)|uniprotkb:MPRD(gene name synonym)|uniprotkb:46 kDa mannose 6-phosphate receptor(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000003056(gene)|ensembl:ENST00000000412(transcript)|go:"GO:0004888"(transmembrane signaling receptor activity)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005768"(endosome)|go:"GO:0005770"(late endosome)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006622"(protein targeting to lysosome)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0007041"(lysosomal transport)|go:"GO:0008333"(endosome to lysosome transport)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0033299"(secretion of lysosomal enzymes)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:1905394"(retromer complex binding)|interpro:IPR000296(Cation-dependent mannose-6-phosphate receptor)|interpro:IPR009011(Mannose-6-phosphate receptor, binding)|interpro:IPR028927|interpro:IPR044865|mint:P20645|rcsb pdb:1JUQ|reactome:R-HSA-432720|reactome:R-HSA-6811440|reactome:R-HSA-8856825|reactome:R-HSA-8856828|refseq:NP_002346.1|refseq:XP_005253433.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Nx1pgku9M1SjHH42s5ZAY7c7eDc9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61769 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-714718|uniprotkb:P01884|uniprotkb:Q9UDF4|uniprotkb:Q540F8|uniprotkb:Q6IAT8|uniprotkb:Q9UCK0|uniprotkb:Q9UD48|ensembl:ENSP00000453191|ensembl:ENSP00000453350|ensembl:ENSP00000481426|ensembl:ENSP00000488321|ensembl:ENSP00000488548|ensembl:ENSP00000497910 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b2mg_human(display_long)|uniprotkb:B2M(gene name)|psi-mi:B2M(display_short)|uniprotkb:CDABP0092(orf name)|uniprotkb:HDCMA22P(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:5KNM|rcsb pdb:5L2J|rcsb pdb:5L2K|rcsb pdb:5MEN|rcsb pdb:5MEO|rcsb pdb:5MEP|rcsb pdb:5MEQ|rcsb pdb:5MER|rcsb pdb:5N1Y|rcsb pdb:5N6B|rcsb pdb:5NHT|rcsb pdb:5NME|rcsb pdb:5NMF|rcsb pdb:5NMG|rcsb pdb:5NMH|rcsb pdb:5NMK|rcsb pdb:5NQ1|rcsb pdb:5NQ3|rcsb pdb:5NQK|rcsb pdb:5OPI|rcsb pdb:5SWQ|rcsb pdb:5T6W|rcsb pdb:5T6X|rcsb pdb:5T6Y|rcsb pdb:5T6Z|rcsb pdb:5T70|rcsb pdb:5TEZ|rcsb pdb:5HYJ|rcsb pdb:5IB1|rcsb pdb:5IB2|rcsb pdb:5IB3|rcsb pdb:5IB4|rcsb pdb:5IB5|rcsb pdb:5IEH|rcsb pdb:5IEK|rcsb pdb:5IM7|rcsb pdb:5TRZ|rcsb pdb:5TS1|rcsb pdb:5INC|rcsb pdb:5TXS|rcsb pdb:5IND|rcsb pdb:5IRO|rcsb pdb:5ISZ|rcsb pdb:5IUE|rcsb pdb:5J1A|rcsb pdb:5U16|rcsb pdb:5JHD|rcsb pdb:5JZI|rcsb pdb:5U17|rcsb pdb:5U1R|rcsb pdb:5U2V|rcsb pdb:5U6Q|rcsb pdb:5U72|rcsb pdb:5U98|rcsb pdb:5V5L|rcsb pdb:5V5M|rcsb pdb:5VGD|rcsb pdb:5VGE|rcsb pdb:5VUD|rcsb pdb:5VUE|rcsb pdb:5VUF|rcsb pdb:5VVP|rcsb pdb:5VWD|rcsb pdb:5VWF|rcsb pdb:5VWH|rcsb pdb:5VWJ|rcsb pdb:5VZ5|rcsb pdb:5W1V|rcsb pdb:5W1W|rcsb pdb:5W67|rcsb pdb:5W69|rcsb pdb:5W6A|rcsb pdb:5WER|rcsb pdb:5WHK|rcsb pdb:5WJL|rcsb pdb:5WJN|rcsb pdb:5WKE|rcsb pdb:5WKF|rcsb pdb:5WKG|rcsb pdb:5WKH|rcsb pdb:5WKI|rcsb pdb:5WL1|rcsb pdb:5WMN|rcsb pdb:5WMO|rcsb pdb:5WMP|rcsb pdb:5WMQ|rcsb pdb:5WMR|rcsb pdb:5WSH|rcsb pdb:5WWI|rcsb pdb:5WWJ|rcsb pdb:5WWU|rcsb pdb:5WXC|rcsb pdb:5WXD|rcsb pdb:5XOS|rcsb pdb:5XOT|rcsb pdb:5XOV|rcsb pdb:5YXN|rcsb pdb:5YXU|rcsb pdb:6AEE|rcsb pdb:6AM5|rcsb pdb:6AMT|rcsb pdb:6AMU|rcsb pdb:6APN|rcsb pdb:6AT5|rcsb pdb:6AT9|rcsb pdb:6AVF|rcsb pdb:6AVG|rcsb pdb:6BJ2|rcsb pdb:6BJ3|rcsb pdb:6BJ8|rcsb pdb:6BXP|rcsb pdb:6BXQ|rcsb pdb:6C09|rcsb pdb:6CUG|rcsb pdb:6D29|rcsb pdb:6C15|rcsb pdb:6C97|rcsb pdb:6D2B|rcsb pdb:6C98|rcsb pdb:6C99|rcsb pdb:6D2R|rcsb pdb:6D2T|rcsb pdb:6D64|rcsb pdb:6D78|rcsb pdb:6DKP|rcsb pdb:6EI2|rcsb pdb:6ENY|rcsb pdb:6EQA|rcsb pdb:6EQB|rcsb pdb:6EWA|rcsb pdb:6EWC|rcsb pdb:6EWO|rcsb pdb:6FGB|rcsb pdb:6G3J|rcsb pdb:6G3K|rcsb pdb:6GGM|rcsb pdb:6GH1|rcsb pdb:6GH4|rcsb pdb:6GHN|rcsb pdb:6GK3|rcsb pdb:6GL1|rcsb pdb:6ID4|rcsb pdb:6IEX|rcsb pdb:6ILM|rcsb pdb:6J1V|rcsb pdb:6J1W|rcsb pdb:6J29|rcsb pdb:6J2A|rcsb pdb:6J2E|rcsb pdb:6J2G|rcsb pdb:6J2H|rcsb pdb:6J2I|rcsb pdb:6J2J|rcsb pdb:6JOZ|rcsb pdb:6JP3|rcsb pdb:6JTN|rcsb pdb:6JTO|rcsb pdb:6JTP|rcsb pdb:6K60|rcsb pdb:6K7T|rcsb pdb:6LA6|rcsb pdb:6LA7|rcsb pdb:6M1B|rcsb pdb:6M24|rcsb pdb:6M2J|rcsb pdb:6M2K|rcsb pdb:6MPP|rcsb pdb:6MT3|rcsb pdb:6MT4|rcsb pdb:6MT5|rcsb pdb:6MT6|rcsb pdb:6MTL|rcsb pdb:6MTM|rcsb pdb:6MWR|rcsb pdb:6NCA|rcsb pdb:6NHA|rcsb pdb:6NPR|rcsb pdb:6NUX|rcsb pdb:6O4Y|rcsb pdb:6O4Z|rcsb pdb:6O51|rcsb pdb:6O53|rcsb pdb:6P2S|rcsb pdb:6P64|rcsb pdb:6PA1|rcsb pdb:6PAG|rcsb pdb:6O9B|rcsb pdb:6O9C|rcsb pdb:6PBH|rcsb pdb:6PTB|rcsb pdb:6OPD|rcsb pdb:6P23|rcsb pdb:6P27|rcsb pdb:6P2C|rcsb pdb:6PTE|rcsb pdb:6P2F|rcsb pdb:6PUC|rcsb pdb:6PUD|rcsb pdb:6PUE|rcsb pdb:6PUF|rcsb pdb:6PUG|rcsb pdb:6PUH|rcsb pdb:6PUI|rcsb pdb:6PUJ|rcsb pdb:6PUK|rcsb pdb:6PUL|rcsb pdb:6PUM|rcsb pdb:6PVC|rcsb pdb:6PVD|rcsb pdb:6PYJ|rcsb pdb:6PYL|rcsb pdb:6PYV|rcsb pdb:6PYW|rcsb pdb:6PZ5|rcsb pdb:6Q3K|rcsb pdb:6Q3S|rcsb pdb:6QIO|rcsb pdb:6QIP|rcsb pdb:6R2L|rcsb pdb:6RP9|rcsb pdb:6RPA|rcsb pdb:6RPB|rcsb pdb:6RSY|rcsb pdb:6SS7|rcsb pdb:6SS8|rcsb pdb:6SS9|rcsb pdb:6SSA|rcsb pdb:6TDO|rcsb pdb:6TDP|rcsb pdb:6TDQ|rcsb pdb:6TDR|rcsb pdb:6TDS|rcsb pdb:6TMO|rcsb pdb:6TRN|rcsb pdb:6TRO|rcsb pdb:6UJ7|rcsb pdb:6UJ8|rcsb pdb:6UJ9|rcsb pdb:6UJO|rcsb pdb:6UJQ|rcsb pdb:6UK2|rcsb pdb:6UK4|rcsb pdb:6ULI|rcsb pdb:6ULK|rcsb pdb:6ULN|rcsb pdb:6ULR|rcsb pdb:6UON|rcsb pdb:6UZ1|rcsb pdb:6UZM|rcsb pdb:6UZN|rcsb pdb:6UZO|rcsb pdb:6UZP|rcsb pdb:6UZQ|rcsb pdb:6UZS|rcsb pdb:6V2O|rcsb pdb:6V2P|rcsb pdb:6V2Q|rcsb pdb:6V3J|rcsb pdb:6V7Y|rcsb pdb:6V7Z|rcsb pdb:6V80|rcsb pdb:6VB0|rcsb pdb:6VB1|rcsb pdb:6VB2|rcsb pdb:6VB3|rcsb pdb:6VB5|rcsb pdb:6VB6|rcsb pdb:6VB7|rcsb pdb:6VIU|rcsb pdb:6VM7|rcsb pdb:6VM8|rcsb pdb:6VM9|rcsb pdb:6VB4|rcsb pdb:6VMA|rcsb pdb:6VMC|rcsb pdb:6VMX|rcsb pdb:6VPZ|rcsb pdb:6VQ2|rcsb pdb:6VQD|rcsb pdb:6VQE|rcsb pdb:6VQO|rcsb pdb:6VQY|rcsb pdb:6VQZ|rcsb pdb:6VR1|rcsb pdb:6VR5|rcsb pdb:6VRM|rcsb pdb:6VRN|rcsb pdb:6W51|rcsb pdb:6W9U|rcsb pdb:6W9V|rcsb pdb:6WZY|rcsb pdb:6X00|rcsb pdb:6XQA|rcsb pdb:6XQP|rcsb pdb:6Y26|rcsb pdb:6Y27|rcsb pdb:6Y28|rcsb pdb:6Y29|rcsb pdb:6Y2A|rcsb pdb:6Y2B|rcsb pdb:6Z9V|rcsb pdb:6Z9W|rcsb pdb:6Z9X|rcsb pdb:7AFV|rcsb pdb:7ALO|rcsb pdb:7C9V|rcsb pdb:7JYU|rcsb pdb:7JYV|rcsb pdb:7JYW|rcsb pdb:7JYX|rcsb pdb:7K80|rcsb pdb:7K81|rcsb pdb:7KGO|rcsb pdb:7KGP|rcsb pdb:7KGQ|rcsb pdb:7KGR|rcsb pdb:7KGS|rcsb pdb:7KGT|rcsb pdb:7KOZ|rcsb pdb:7KP0|rcsb pdb:7KP1|rcsb pdb:7LFZ|rcsb pdb:7LG0|rcsb pdb:7LG2|rcsb pdb:7LG3|rcsb pdb:7LGD|rcsb pdb:7LGT|rcsb pdb:7M8S|rcsb pdb:7M8T|rcsb pdb:7M8U|rcsb pdb:7MKB|rcsb pdb:7NUI|reactome:R-HSA-1236974|reactome:R-HSA-1236977|reactome:R-HSA-164940|reactome:R-HSA-198933|reactome:R-HSA-2172127|reactome:R-HSA-2424491|reactome:R-HSA-6798695|reactome:R-HSA-877300|reactome:R-HSA-9637628|reactome:R-HSA-977225|reactome:R-HSA-983170|ensembl:ENSG00000166710(gene)|ensembl:ENSG00000273686(gene)|ensembl:ENST00000559916(transcript)|ensembl:ENST00000561424(transcript)|ensembl:ENST00000617605(transcript)|ensembl:ENST00000631573(transcript)|ensembl:ENST00000631728(transcript)|ensembl:ENST00000648006(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001895"(retina homeostasis)|go:"GO:0001916"(positive regulation of T cell mediated cytotoxicity)|go:"GO:0002481"(antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent)|go:"GO:0002726"(positive regulation of T cell cytokine production)|go:"GO:0003254"(regulation of membrane depolarization)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0002237"(response to molecule of bacterial origin)|go:"GO:0005925"(focal adhesion)|go:"GO:0006826"(iron ion transport)|go:"GO:0006955"(immune response)|go:"GO:0007611"(learning or memory)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0016020"(membrane)|go:"GO:0019731"(antibacterial humoral response)|go:"GO:0019885"(antigen processing and presentation of endogenous peptide antigen via MHC class I)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031905"(early endosome lumen)|go:"GO:0032092"(positive regulation of protein binding)|go:"GO:0033077"(T cell differentiation in thymus)|go:"GO:0034756"(regulation of iron ion transport)|go:"GO:0035580"(specific granule lumen)|go:"GO:0042026"(protein refolding)|go:"GO:0042493"|go:"GO:0042612"(MHC class I protein complex)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042824"(MHC class I peptide loading complex)|go:"GO:0045087"(innate immune response)|go:"GO:0045646"(regulation of erythrocyte differentiation)|go:"GO:0046686"(response to cadmium ion)|go:"GO:0048260"(positive regulation of receptor-mediated endocytosis)|go:"GO:0050680"(negative regulation of epithelial cell proliferation)|go:"GO:0050768"(negative regulation of neurogenesis)|go:"GO:0050829"(defense response to Gram-negative bacterium)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0055072"(iron ion homeostasis)|go:"GO:0061844"(antimicrobial humoral immune response mediated by antimicrobial peptide)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071281"(cellular response to iron ion)|go:"GO:0071283"("cellular response to iron(III) ion")|go:"GO:0071316"(cellular response to nicotine)|go:"GO:0090647"(modulation of age-related behavioral decline)|go:"GO:1900121"(negative regulation of receptor binding)|go:"GO:1900122"(positive regulation of receptor binding)|go:"GO:1904434"(positive regulation of ferrous iron binding)|go:"GO:1904437"(positive regulation of transferrin receptor binding)|go:"GO:1904724"(tertiary granule lumen)|go:"GO:1990000"(amyloid fibril formation)|go:"GO:1990712"(HFE-transferrin receptor complex)|go:"GO:2000774"(positive regulation of cellular senescence)|go:"GO:2000978"(negative regulation of forebrain neuron differentiation)|interpro:IPR003006(Immunoglobulin/major histocompatibility complex, conserved site)|interpro:IPR003597(Immunoglobulin C1-set)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR015707(Beta-2-Microglobulin)|interpro:IPR036179|mint:P61769|rcsb pdb:1A1M|rcsb pdb:1A1N|rcsb pdb:1A1O|rcsb pdb:1A6Z|rcsb pdb:1A9B|rcsb pdb:1A9E|rcsb pdb:1AGB|rcsb pdb:1AGC|rcsb pdb:1AGD|rcsb pdb:1AGE|rcsb pdb:1AGF|rcsb pdb:1AKJ|rcsb pdb:1AO7|rcsb pdb:1B0G|rcsb pdb:1B0R|rcsb pdb:1BD2|rcsb pdb:1C16|rcsb pdb:1CE6|rcsb pdb:1CG9|rcsb pdb:1DE4|rcsb pdb:1DUY|rcsb pdb:1DUZ|rcsb pdb:1E27|rcsb pdb:1E28|rcsb pdb:1EEY|rcsb pdb:1EEZ|rcsb pdb:1EFX|rcsb pdb:1EXU|rcsb pdb:1GZP|rcsb pdb:1GZQ|rcsb pdb:1HHG|rcsb pdb:1HHH|rcsb pdb:1HHI|rcsb pdb:1HHJ|rcsb pdb:1HHK|rcsb pdb:1HLA|rcsb pdb:1HSA|rcsb pdb:1HSB|rcsb pdb:1I1F|rcsb pdb:1I1Y|rcsb pdb:1I4F|rcsb pdb:1I7R|rcsb pdb:1I7T|rcsb pdb:1I7U|rcsb pdb:1IM3|rcsb pdb:1IM9|rcsb pdb:1JF1|rcsb pdb:1JGD|rcsb pdb:1JGE|rcsb pdb:1JHT|rcsb pdb:1JNJ|rcsb pdb:1K5N|rcsb pdb:1KPR|rcsb pdb:1KTL|rcsb pdb:1LDS|rcsb pdb:1LP9|rcsb pdb:1M05|rcsb pdb:1M6O|rcsb pdb:1MHE|rcsb pdb:1MI5|rcsb pdb:1N2R|rcsb pdb:1OF2|rcsb pdb:1OGA|rcsb pdb:1OGT|rcsb pdb:1ONQ|rcsb pdb:1P7Q|rcsb pdb:1PY4|rcsb pdb:1Q94|rcsb pdb:1QEW|rcsb pdb:1QLF|rcsb pdb:1QQD|rcsb pdb:1QR1|rcsb pdb:1QRN|rcsb pdb:1T20|rcsb pdb:1QSE|rcsb pdb:1QSF|rcsb pdb:1QVO|rcsb pdb:1T21|rcsb pdb:1T22|rcsb pdb:1R3H|rcsb pdb:1S8D|rcsb pdb:1TMC|rcsb pdb:1TVB|rcsb pdb:1TVH|rcsb pdb:1UQS|rcsb pdb:1UR7|rcsb pdb:1UXS|rcsb pdb:1UXW|rcsb pdb:1VGK|rcsb pdb:1W0V|rcsb pdb:1W0W|rcsb pdb:1W72|rcsb pdb:1X7Q|rcsb pdb:1XH3|rcsb pdb:1XR8|rcsb pdb:1XR9|rcsb pdb:1XZ0|rcsb pdb:1YDP|rcsb pdb:1YPZ|rcsb pdb:1S9W|rcsb pdb:1S9X|rcsb pdb:1S9Y|rcsb pdb:1SYS|rcsb pdb:1SYV|rcsb pdb:1ZHK|rcsb pdb:1T1W|rcsb pdb:1ZHL|rcsb pdb:1ZS8|rcsb pdb:1ZSD|rcsb pdb:1ZT4|rcsb pdb:1ZVS|rcsb pdb:2A83|rcsb pdb:2AK4|rcsb pdb:2AV1|rcsb pdb:2AV7|rcsb pdb:2AXF|rcsb pdb:2AXG|rcsb pdb:2BCK|rcsb pdb:2BNQ|rcsb pdb:2BNR|rcsb pdb:2BSR|rcsb pdb:2BSS|rcsb pdb:2BST|rcsb pdb:2BVO|rcsb pdb:1T1X|rcsb pdb:2BVP|rcsb pdb:2BVQ|rcsb pdb:1T1Y|rcsb pdb:2C7U|rcsb pdb:2CII|rcsb pdb:1T1Z|rcsb pdb:2CIK|rcsb pdb:2CLR|rcsb pdb:2D31|rcsb pdb:2D4D|rcsb pdb:2D4F|rcsb pdb:2DYP|rcsb pdb:2E8D|rcsb pdb:2ESV|rcsb pdb:2F53|rcsb pdb:2F54|rcsb pdb:2F74|rcsb pdb:2F8O|rcsb pdb:2FYY|rcsb pdb:2FZ3|rcsb pdb:2GIT|rcsb pdb:2GJ6|rcsb pdb:2GT9|rcsb pdb:2GTW|rcsb pdb:2GTZ|rcsb pdb:2GUO|rcsb pdb:2H26|rcsb pdb:2H6P|rcsb pdb:2HJK|rcsb pdb:2HJL|rcsb pdb:2HLA|rcsb pdb:2HN7|rcsb pdb:2J8U|rcsb pdb:2JCC|rcsb pdb:2NW3|rcsb pdb:2NX5|refseq:NP_004039.1|rcsb pdb:2P5E|rcsb pdb:2P5W|rcsb pdb:2PO6|rcsb pdb:2PYE|rcsb pdb:2RFX|rcsb pdb:2UWE|rcsb pdb:2V2W|rcsb pdb:2V2X|rcsb pdb:2VB5|rcsb pdb:2VLJ|rcsb pdb:2VLK|rcsb pdb:2VLL|rcsb pdb:2VLR|rcsb pdb:2X4N|rcsb pdb:2X4O|rcsb pdb:2X4P|rcsb pdb:2X4Q|rcsb pdb:2X4R|rcsb pdb:2X4S|rcsb pdb:2X4T|rcsb pdb:2X4U|rcsb pdb:2X70|rcsb pdb:2X89|rcsb pdb:2XKS|rcsb pdb:2XKU|rcsb pdb:2XPG|rcsb pdb:2YPK|rcsb pdb:2YPL|rcsb pdb:2YXF|rcsb pdb:2Z9T|rcsb pdb:3AM8|rcsb pdb:3B3I|rcsb pdb:3B6S|rcsb pdb:3BGM|rcsb pdb:3BH8|rcsb pdb:3BH9|rcsb pdb:3BHB|rcsb pdb:3BO8|rcsb pdb:3BP4|rcsb pdb:3BP7|rcsb pdb:3BVN|rcsb pdb:3BW9|rcsb pdb:3BWA|rcsb pdb:3BXN|rcsb pdb:3BZE|rcsb pdb:3BZF|rcsb pdb:3C9N|rcsb pdb:3CDG|rcsb pdb:3CII|rcsb pdb:3CIQ|rcsb pdb:3CZF|rcsb pdb:3D18|rcsb pdb:3D25|rcsb pdb:3D2U|rcsb pdb:3D39|rcsb pdb:3D3V|rcsb pdb:3DBX|rcsb pdb:3DHJ|rcsb pdb:3DHM|rcsb pdb:3DTX|rcsb pdb:3DX6|rcsb pdb:3DX7|rcsb pdb:3DX8|rcsb pdb:3DXA|rcsb pdb:3EKC|rcsb pdb:3FFC|rcsb pdb:3FQN|rcsb pdb:3FQR|rcsb pdb:3FQT|rcsb pdb:3FQU|rcsb pdb:3FQW|rcsb pdb:3FQX|rcsb pdb:3FT2|rcsb pdb:3FT3|rcsb pdb:3FT4|rcsb pdb:3GIV|rcsb pdb:3GJF|rcsb pdb:3GSN|rcsb pdb:3GSO|rcsb pdb:3GSQ|rcsb pdb:3GSR|rcsb pdb:3GSU|rcsb pdb:3GSV|rcsb pdb:3GSW|rcsb pdb:3GSX|rcsb pdb:3H7B|rcsb pdb:3H9H|rcsb pdb:3H9S|rcsb pdb:3HAE|rcsb pdb:3HCV|rcsb pdb:3HG1|rcsb pdb:3HLA|rcsb pdb:3HPJ|rcsb pdb:3HUJ|rcsb pdb:3I6G|rcsb pdb:3I6K|rcsb pdb:3I6L|rcsb pdb:3IB4|rcsb pdb:3IXA|rcsb pdb:3JTS|rcsb pdb:3KLA|rcsb pdb:3KPL|rcsb pdb:3KPM|rcsb pdb:3KPN|rcsb pdb:3L3G|rcsb pdb:3L3I|rcsb pdb:3L3J|rcsb pdb:3L3K|rcsb pdb:3KPO|rcsb pdb:3LKN|rcsb pdb:3LKO|rcsb pdb:3LKP|rcsb pdb:3LKQ|rcsb pdb:3LKR|rcsb pdb:3LKS|rcsb pdb:3LN4|rcsb pdb:3LN5|rcsb pdb:3LOW|rcsb pdb:3LOZ|rcsb pdb:3LV3|rcsb pdb:3KPP|rcsb pdb:3KPQ|rcsb pdb:3KPR|rcsb pdb:3M17|rcsb pdb:3M1B|rcsb pdb:3MGO|rcsb pdb:3MGT|rcsb pdb:3MR9|rcsb pdb:3MRB|rcsb pdb:3MRC|rcsb pdb:3MRD|rcsb pdb:3KPS|rcsb pdb:3KWW|rcsb pdb:3MRE|rcsb pdb:3MRF|rcsb pdb:3MRG|rcsb pdb:3MRH|rcsb pdb:3MRI|rcsb pdb:3MRJ|rcsb pdb:3MRK|rcsb pdb:3MRL|rcsb pdb:3MRM|rcsb pdb:3MRN|rcsb pdb:3MRO|rcsb pdb:3MRP|rcsb pdb:3MRQ|rcsb pdb:3MRR|rcsb pdb:3MV7|rcsb pdb:3KXF|rcsb pdb:3MV8|rcsb pdb:3MV9|rcsb pdb:3MYJ|rcsb pdb:3MYZ|rcsb pdb:3MZT|rcsb pdb:3KYN|rcsb pdb:3NA4|rcsb pdb:3NFN|rcsb pdb:3O3A|rcsb pdb:3O3B|rcsb pdb:3O3D|rcsb pdb:3O3E|rcsb pdb:3O4L|rcsb pdb:3OV6|rcsb pdb:3OX8|rcsb pdb:3OXR|rcsb pdb:3OXS|rcsb pdb:3PWJ|rcsb pdb:3PWL|rcsb pdb:3PWN|rcsb pdb:3PWP|rcsb pdb:3QDA|rcsb pdb:3QDG|rcsb pdb:3QDJ|rcsb pdb:3QDM|rcsb pdb:3QEQ|rcsb pdb:3QFD|rcsb pdb:3QFJ|rcsb pdb:3QZW|rcsb pdb:3REW|rcsb pdb:3KYO|rcsb pdb:3L3D|rcsb pdb:3RL1|rcsb pdb:3RL2|rcsb pdb:3RWJ|rcsb pdb:3S6C|rcsb pdb:3SDX|rcsb pdb:3SJV|rcsb pdb:3SKM|rcsb pdb:3SKO|rcsb pdb:3SPV|rcsb pdb:3TID|rcsb pdb:3TIE|rcsb pdb:3TLR|rcsb pdb:3TM6|rcsb pdb:3TO2|rcsb pdb:3TZV|rcsb pdb:3U0P|rcsb pdb:3UPR|rcsb pdb:3UTQ|rcsb pdb:3UTS|rcsb pdb:3UTT|rcsb pdb:3V5D|rcsb pdb:3V5H|rcsb pdb:3V5K|rcsb pdb:3VCL|rcsb pdb:3VFM|rcsb pdb:3VFN|rcsb pdb:3VFO|rcsb pdb:3VFP|rcsb pdb:3VFR|rcsb pdb:3VFS|rcsb pdb:3VFT|rcsb pdb:3VFU|rcsb pdb:3VFV|rcsb pdb:3VFW|rcsb pdb:3VH8|rcsb pdb:3VRI|rcsb pdb:3VRJ|rcsb pdb:3VWJ|rcsb pdb:3VWK|rcsb pdb:3VXM|rcsb pdb:3VXN|rcsb pdb:3VXO|rcsb pdb:3VXP|rcsb pdb:3VXR|rcsb pdb:3VXS|rcsb pdb:3VXU|rcsb pdb:3W0W|rcsb pdb:3W39|rcsb pdb:3WL9|rcsb pdb:3WLB|rcsb pdb:3WUW|rcsb pdb:3X11|rcsb pdb:3X12|rcsb pdb:3X13|rcsb pdb:3X14|rcsb pdb:4E0K|rcsb pdb:4E0L|rcsb pdb:4E5X|rcsb pdb:4EN3|rcsb pdb:4EUP|rcsb pdb:4F7M|rcsb pdb:4F7P|rcsb pdb:4F7T|rcsb pdb:4FTV|rcsb pdb:4FXL|rcsb pdb:4G8G|rcsb pdb:4G8I|rcsb pdb:4G9D|rcsb pdb:4G9F|rcsb pdb:4GKN|rcsb pdb:4GKS|rcsb pdb:4GUP|rcsb pdb:4HKJ|rcsb pdb:4HWZ|rcsb pdb:4HX1|rcsb pdb:4I48|rcsb pdb:4I4W|rcsb pdb:4JFD|rcsb pdb:4JFE|rcsb pdb:4JFF|rcsb pdb:4JFO|rcsb pdb:4JFP|rcsb pdb:4JFQ|rcsb pdb:4JQV|rcsb pdb:3T8X|rcsb pdb:4JQX|rcsb pdb:4JRX|rcsb pdb:4JRY|rcsb pdb:4K71|rcsb pdb:4K7F|rcsb pdb:4KDT|rcsb pdb:4L29|rcsb pdb:4L3C|rcsb pdb:4L4T|rcsb pdb:4L4V|rcsb pdb:4LCW|rcsb pdb:4L3E|rcsb pdb:4LCY|rcsb pdb:4LHU|rcsb pdb:4LNR|rcsb pdb:4M8V|rcsb pdb:4MJ5|rcsb pdb:4MJ6|rcsb pdb:4MJI|rcsb pdb:4MNQ|rcsb pdb:4N0F|rcsb pdb:4N0U|rcsb pdb:4N8V|rcsb pdb:4NNX|rcsb pdb:4NNY|rcsb pdb:4NO0|rcsb pdb:4NO2|rcsb pdb:4NO3|rcsb pdb:4NO5|rcsb pdb:4NQC|rcsb pdb:4NQD|rcsb pdb:4NQE|rcsb pdb:4NQV|rcsb pdb:4NQX|rcsb pdb:4NT6|rcsb pdb:4O2C|rcsb pdb:4O2E|rcsb pdb:4O2F|rcsb pdb:4ONO|rcsb pdb:4PJ5|rcsb pdb:4PJ7|rcsb pdb:4PJ8|rcsb pdb:4PJ9|rcsb pdb:4PJA|rcsb pdb:4PJB|rcsb pdb:4PJC|rcsb pdb:4PJD|rcsb pdb:4PJE|rcsb pdb:4PJF|rcsb pdb:4PJG|rcsb pdb:4PJH|rcsb pdb:4PJI|rcsb pdb:4PJX|rcsb pdb:4PR5|rcsb pdb:4PRA|rcsb pdb:4PRB|rcsb pdb:4PRD|rcsb pdb:4PRE|rcsb pdb:4PRH|rcsb pdb:4PRI|rcsb pdb:4PRN|rcsb pdb:4PRP|rcsb pdb:4QOK|rcsb pdb:4QRP|rcsb pdb:4QRQ|rcsb pdb:4QRR|rcsb pdb:4QRS|rcsb pdb:4QRT|rcsb pdb:4QRU|rcsb pdb:4R9H|rcsb pdb:4RA3|rcsb pdb:4RAH|rcsb pdb:4RMQ|rcsb pdb:4RMR|rcsb pdb:4RMS|rcsb pdb:4RMT|rcsb pdb:4RMU|rcsb pdb:4RMV|rcsb pdb:4RMW|rcsb pdb:4U1H|rcsb pdb:4U1I|rcsb pdb:4U1J|rcsb pdb:4U1K|rcsb pdb:4U1L|rcsb pdb:4U1M|rcsb pdb:4U1N|rcsb pdb:4U1S|rcsb pdb:4U6X|rcsb pdb:4U6Y|rcsb pdb:4UQ2|rcsb pdb:4UQ3|rcsb pdb:4WC8|rcsb pdb:4WDI|rcsb pdb:4WJ5|rcsb pdb:4WO4|rcsb pdb:4WU5|rcsb pdb:4WU7|rcsb pdb:4WUU|rcsb pdb:4WW2|rcsb pdb:4WWK|rcsb pdb:4X0S|rcsb pdb:4X6C|rcsb pdb:4X6D|rcsb pdb:4X6E|rcsb pdb:4X6F|rcsb pdb:4Z76|rcsb pdb:4Z77|rcsb pdb:4Z78|rcsb pdb:5B38|rcsb pdb:5B39|rcsb pdb:4XXC|rcsb pdb:5BJT|rcsb pdb:5BRZ|rcsb pdb:5BS0|rcsb pdb:5BXF|rcsb pdb:5C07|rcsb pdb:5C08|rcsb pdb:5C09|rcsb pdb:5C0A|rcsb pdb:5C0B|rcsb pdb:5C0C|rcsb pdb:5C0D|rcsb pdb:5C0E|rcsb pdb:5C0F|rcsb pdb:5C0G|rcsb pdb:5C0I|rcsb pdb:5C0J|rcsb pdb:5C9J|rcsb pdb:5CFH|rcsb pdb:5CKA|rcsb pdb:5CKG|rcsb pdb:5CS7|rcsb pdb:5CSB|rcsb pdb:5CSG|rcsb pdb:5D2L|rcsb pdb:5D2N|rcsb pdb:5D5M|rcsb pdb:5D7I|rcsb pdb:5D7J|rcsb pdb:5D7L|rcsb pdb:5D9S|rcsb pdb:5DDH|rcsb pdb:5DEF|rcsb pdb:5DEG|rcsb pdb:5E00|rcsb pdb:5E6I|rcsb pdb:5E9D|rcsb pdb:5ENW|rcsb pdb:5EO0|rcsb pdb:5EO1|rcsb pdb:5EOT|rcsb pdb:5EU3|rcsb pdb:5EU4|rcsb pdb:5EU5|rcsb pdb:5EU6|rcsb pdb:5EUO|rcsb pdb:5F1I|rcsb pdb:5F7D|rcsb pdb:5F9J|rcsb pdb:5FA3|rcsb pdb:5FA4|rcsb pdb:5FDW|rcsb pdb:5GR7|rcsb pdb:5GRD|rcsb pdb:5GRG|rcsb pdb:5GSB|rcsb pdb:5GSD|rcsb pdb:5GSR|rcsb pdb:5GSV|rcsb pdb:5GSX|rcsb pdb:5HGA|rcsb pdb:5HGB|rcsb pdb:5HGD|rcsb pdb:5HGH|rcsb pdb:5HHM|rcsb pdb:5HHN|rcsb pdb:5HHO|rcsb pdb:5HHP|rcsb pdb:5HHQ|dip:DIP-6055N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:P08CZT3zl5vRrh+ELuLhkCM7jR89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96PK6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-954272|ensembl:ENSP00000311747|uniprotkb:O75932|uniprotkb:Q53GV1|uniprotkb:Q68DQ9|uniprotkb:Q96PK5|uniprotkb:B3KMN4|uniprotkb:Q2PYN1|uniprotkb:D6RGD8|uniprotkb:B0LM41|intact:EBI-16430855|intact:EBI-16472484 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rbm14_human(display_long)|uniprotkb:RNA-binding motif protein 14(gene name synonym)|uniprotkb:RRM-containing coactivator activator/modulator(gene name synonym)|uniprotkb:Synaptotagmin-interacting protein(gene name synonym)|uniprotkb:RBM14(gene name)|psi-mi:RBM14(display_short)|uniprotkb:SIP(gene name synonym)|uniprotkb:Paraspeckle protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000239306(gene)|ensembl:ENST00000310137(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0002218"(activation of innate immune response)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0009725"(response to hormone)|go:"GO:0016575"(histone deacetylation)|go:"GO:0016607"(nuclear speck)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0045087"(innate immune response)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046600"(negative regulation of centriole replication)|go:"GO:0060395"(SMAD protein signal transduction)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034506|interpro:IPR034507|go:"GO:0098534"(centriole assembly)|interpro:IPR035979|mint:Q96PK6|rcsb pdb:2DNP|reactome:R-HSA-8941326|refseq:NP_001185765.1|refseq:NP_006319.1|ensembl:ENSP00000311747|ensembl:ENST00000393979|ensembl:ENSP00000377548|ensembl:ENST00000409738|ensembl:ENSP00000386995|refseq:NP_001185766.1|refseq:NP_001185774.1|dip:DIP-50126N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Q0UBl2qmfwQTPwUQ7ZDwGIMOYoA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P51991 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1050760|uniprotkb:Q53RW7|uniprotkb:Q6URK5|uniprotkb:D3DPF4|ensembl:ENSP00000376309|ensembl:ENSP00000416340|ensembl:ENSP00000503593|ensembl:ENSP00000504135|ensembl:ENSP00000504152 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:roa3_human(display_long)|uniprotkb:HNRPA3(gene name synonym)|uniprotkb:HNRNPA3(gene name)|psi-mi:HNRNPA3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_919223.1|refseq:NP_001317178.1|ensembl:ENSG00000170144(gene)|ensembl:ENST00000392524(transcript)|ensembl:ENST00000435711(transcript)|ensembl:ENST00000676629(transcript)|ensembl:ENST00000678111(transcript)|ensembl:ENST00000679159(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0014069"(postsynaptic density)|go:"GO:0035770"(ribonucleoprotein granule)|go:"GO:0043005"(neuron projection)|go:"GO:0051028"(mRNA transport)|go:"GO:0051033"(RNA transmembrane transporter activity)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1990124"(messenger ribonucleoprotein complex)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034513|interpro:IPR034516|interpro:IPR035979|mint:P51991|reactome:R-HSA-72163|reactome:R-HSA-72203 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:bbg0nIdhEHomcwtgZhT2yHy7+nU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y3U8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1057689|uniprotkb:Q6FIG1|uniprotkb:Q9UQF6|uniprotkb:B2R4Y1|uniprotkb:D6W634|ensembl:ENSP00000252543|ensembl:ENSP00000378081|ensembl:ENSP00000462609|ensembl:ENSP00000464342 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl36_human(display_long)|uniprotkb:RPL36(gene name)|psi-mi:RPL36(display_short)|uniprotkb:Large ribosomal subunit protein eL36(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_056229.2|refseq:NP_378669.1|reactome:R-HSA-975957|mint:Q9Y3U8|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|interpro:IPR038097|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|rcsb pdb:6Y6X|ensembl:ENSG00000130255(gene)|ensembl:ENST00000347512(transcript)|ensembl:ENST00000394580(transcript)|ensembl:ENST00000577222(transcript)|ensembl:ENST00000579649(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042788"(polysomal ribosome)|interpro:IPR000509(Ribosomal protein L36e) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:lRlRMF2jV/UHr4SX95SSCFIEV+s9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NUQ6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-5280638|uniprotkb:A8K381|uniprotkb:B7WNZ7|uniprotkb:Q53T22|uniprotkb:Q8WV53|uniprotkb:Q8WYG1|uniprotkb:Q9NTW4|uniprotkb:B4DRE6|uniprotkb:B4DT67|ensembl:ENSP00000351503|ensembl:ENSP00000386336|ensembl:ENSP00000386730|ensembl:ENSP00000386931|ensembl:ENSP00000391467 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sps2l_human(display_long)|uniprotkb:SPATS2L(gene name)|psi-mi:SPATS2L(display_short)|uniprotkb:DNAPTP6(gene name synonym)|uniprotkb:DNA polymerase-transactivated protein 6(gene name synonym)|uniprotkb:Stress granule and nucleolar protein(gene name synonym)|uniprotkb:SP1224(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001269664.1|refseq:NP_001269672.1|refseq:XP_011509240.1|refseq:XP_011509241.1|refseq:NP_001093892.1|refseq:NP_001093893.1|refseq:NP_001093894.1|refseq:NP_056350.2|refseq:XP_005246513.1|refseq:XP_005246514.1|refseq:XP_005246515.1|refseq:XP_005246516.1|refseq:NP_001269673.1|refseq:XP_016859272.1|refseq:XP_016859274.1|refseq:XP_016859275.1|refseq:XP_016859276.1|ensembl:ENSG00000196141(gene)|ensembl:ENST00000358677(transcript)|ensembl:ENST00000409140(transcript)|ensembl:ENST00000409718(transcript)|ensembl:ENST00000409988(transcript)|ensembl:ENST00000451764(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0032991"(protein-containing complex)|interpro:IPR009060(UBA-like)|interpro:IPR009816(Protein of unknown function DUF1387)|mint:Q9NUQ6 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B+nzSpiu2ECSVNxsajBSZrk6dhA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14108 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1564650|uniprotkb:Q53Y63|uniprotkb:B4DKD8|uniprotkb:E7EM68|ensembl:ENSP00000264896 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:scrb2_human(display_long)|uniprotkb:Lysosome membrane protein II(gene name synonym)|uniprotkb:Scavenger receptor class B member 2(gene name synonym)|uniprotkb:85 kDa lysosomal membrane sialoglycoprotein(gene name synonym)|uniprotkb:CD36 antigen-like 2(gene name synonym)|uniprotkb:SCARB2(gene name)|psi-mi:SCARB2(display_short)|uniprotkb:CD36L2(gene name synonym)|uniprotkb:LIMPII(gene name synonym)|uniprotkb:LIMP2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001191184.1|refseq:NP_005497.1|ensembl:ENSG00000138760(gene)|ensembl:ENST00000264896(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001786"(phosphatidylserine binding)|go:"GO:0004888"(transmembrane signaling receptor activity)|go:"GO:0005044"(scavenger receptor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006622"(protein targeting to lysosome)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0007605"(sensory perception of sound)|go:"GO:0010008"(endosome membrane)|go:"GO:0010467"(gene expression)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0015485"(cholesterol binding)|go:"GO:0015917"(aminophospholipid transport)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0031210"(phosphatidylcholine binding)|go:"GO:0031902"(late endosome membrane)|go:"GO:0038024"(cargo receptor activity)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043471"(regulation of cellular carbohydrate catabolic process)|go:"GO:0051087"(chaperone binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904978"(regulation of endosome organization)|go:"GO:1905123"(regulation of glucosylceramidase activity)|go:"GO:1905671"(regulation of lysosome organization)|interpro:IPR002159(CD36 antigen)|interpro:IPR005429(Lysosome membrane protein II)|mint:Q14108|rcsb pdb:4F7B|rcsb pdb:4Q4B|rcsb pdb:4Q4F|rcsb pdb:4TVZ|rcsb pdb:4TW0|rcsb pdb:4TW2|rcsb pdb:5UPH|rcsb pdb:5XBM|rcsb pdb:6I2K|reactome:R-HSA-8856825|reactome:R-HSA-8856828 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:FXyG5dJv7OqGjSgl5slIqNxUqoI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B1AHF3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043572|ensembl:ENSP00000403439 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b1ahf3_human(display_long)|uniprotkb:CYB5R3(gene name)|psi-mi:CYB5R3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000100243(gene)|ensembl:ENST00000438270(transcript)|go:"GO:0016491"(oxidoreductase activity)|interpro:IPR001834("NADH:cytochrome b5 reductase (CBR)")|interpro:IPR008333(Oxidoreductase FAD-binding region)|interpro:IPR017927|interpro:IPR017938 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qCkGx5pdeY88/JKSB/YqQEa5t4Y9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BPX5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-711189|ensembl:ENSP00000259477|ensembl:ENSP00000345361|uniprotkb:Q7Z523 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arp5l_human(display_long)|uniprotkb:Arp2/3 complex 16 kDa subunit 2(gene name synonym)|uniprotkb:ARPC5L(gene name)|psi-mi:ARPC5L(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_112240.1|ensembl:ENSG00000136950(gene)|ensembl:ENST00000259477(transcript)|ensembl:ENST00000353214(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0016477"(cell migration)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098978"(glutamatergic synapse)|interpro:IPR006789("ARP2/3 complex 16 kDa subunit (p16-Arc)")|interpro:IPR030075|interpro:IPR036743|mint:Q9BPX5|rcsb pdb:6YW6|dip:DIP-50399N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JVproBu8rIrnlk39yXPC+ZrvoOk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6ZVM7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-3452240|uniprotkb:Q96M88|uniprotkb:Q86V61|uniprotkb:Q8TDE7|uniprotkb:B7Z7F4|ensembl:ENSP00000368818|uniprotkb:B7Z2L7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tm1l2_human(display_long)|uniprotkb:TOM1L2(gene name)|psi-mi:TOM1L2(display_short)|uniprotkb:Target of Myb-like protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001028723.1|refseq:NP_001076437.1|refseq:NP_001275715.1|refseq:NP_001275716.1|refseq:NP_001275717.1|refseq:NP_001275718.1|ensembl:ENSG00000175662(gene)|ensembl:ENST00000379504(transcript)|go:"GO:0005768"(endosome)|go:"GO:0007165"(signal transduction)|go:"GO:0015031"(protein transport)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030276"(clathrin binding)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0043130"(ubiquitin binding)|go:"GO:0045839"(negative regulation of mitotic nuclear division)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002014(VHS)|interpro:IPR004152(GAT)|interpro:IPR008942(ENTH/VHS)|interpro:IPR014645(Target of Myb protein 1)|interpro:IPR027429|interpro:IPR038425|dip:DIP-61860N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:NZ3MLjhsMwb65v0h0qjwkpZjZJ09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14839 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-372916|uniprotkb:Q8IXZ5|intact:EBI-28978241|ensembl:ENSP00000440542 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:chd4_human(display_long)|uniprotkb:CHD4(gene name)|psi-mi:CHD4(display_short)|uniprotkb:ATP-dependent helicase CHD4(gene name synonym)|uniprotkb:Mi-2 autoantigen 218 kDa protein(gene name synonym)|uniprotkb:Mi2-beta(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000440542|ensembl:ENST00000645095|ensembl:ENSP00000496634|refseq:NP_001264.2|refseq:XP_006719021.1|refseq:NP_001284482.1|ensembl:ENSG00000111642(gene)|ensembl:ENST00000544040(transcript)|go:"GO:0000785"(chromatin)|go:"GO:0001221"(transcription coregulator binding)|go:"GO:0003677"(DNA binding)|go:"GO:0003678"(DNA helicase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0008270"(zinc ion binding)|go:"GO:0016020"(membrane)|go:"GO:0016581"(NuRD complex)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043044"|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070615"|go:"GO:0090575"(RNA polymerase II transcription regulator complex)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR000330(SNF2-related)|interpro:IPR000953(Chromo domain)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR001965(Zinc finger, PHD-type)|interpro:IPR002464(DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site)|interpro:IPR009462(Protein of unknown function DUF1086)|interpro:IPR009463(Protein of unknown function DUF1087)|interpro:IPR011011(Zinc finger, FYVE/PHD-type)|interpro:IPR012957(CHD, C-terminal 2)|interpro:IPR012958(CHD, N-terminal)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR016197(Chromo domain-like)|interpro:IPR019786|interpro:IPR019787|interpro:IPR023780|interpro:IPR027417|interpro:IPR038718|mint:Q14839|rcsb pdb:1MM2|rcsb pdb:1MM3|rcsb pdb:2EE1|rcsb pdb:2L5U|rcsb pdb:2L75|rcsb pdb:2N5N|rcsb pdb:4O9I|rcsb pdb:6BGG|rcsb pdb:6Q3M|rcsb pdb:6RYR|rcsb pdb:6RYU|reactome:R-HSA-3214815|reactome:R-HSA-427389|reactome:R-HSA-6804758|reactome:R-HSA-73762|reactome:R-HSA-8943724|reactome:R-HSA-9031628|reactome:R-HSA-9679191|dip:DIP-31183N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:E9eHT/41SIFRiz54J81hvPQeHIE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A2ABF8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043459|ensembl:ENSP00000382888|ensembl:ENSP00000400861|ensembl:ENSP00000403402|ensembl:ENSP00000364678 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a2abf8_human(display_long)|uniprotkb:EHMT2(gene name)|psi-mi:EHMT2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000204371(gene)|ensembl:ENSG00000206376(gene)|ensembl:ENSG00000227333(gene)|ensembl:ENSG00000236759(gene)|ensembl:ENST00000375528(transcript)|ensembl:ENST00000400008(transcript)|ensembl:ENST00000428442(transcript)|ensembl:ENST00000443951(transcript)|go:"GO:0002039"(p53 binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0008270"(zinc ion binding)|go:"GO:0016607"(nuclear speck)|go:"GO:0018024"(histone-lysine N-methyltransferase activity)|interpro:IPR001214(SET)|interpro:IPR002110(Ankyrin)|interpro:IPR007728(Pre-SET zinc-binding region)|interpro:IPR020683|interpro:IPR036770|interpro:IPR038034|interpro:IPR043550|refseq:NP_001276342.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:vnNB36vR3gboorCKaQqjdqUXXEo9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H7BYR4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27045783|ensembl:ENSP00000380833 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h7byr4_human(display_long)|uniprotkb:CADPS2(gene name)|psi-mi:CADPS2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000081803(gene)|ensembl:ENST00000397721(transcript)|go:"GO:0015031"(protein transport)|go:"GO:0016079"(synaptic vesicle exocytosis)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0046872"(metal ion binding)|go:"GO:0098793"(presynapse)|go:"GO:1990504"(dense core granule exocytosis)|interpro:IPR000008(C2 calcium-dependent membrane targeting)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR010439(Protein of unknown function DUF1041)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR014770(Munc13 homology 1)|interpro:IPR033227|interpro:IPR035892 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:u9bpeO+Hzl1jbNhDTq7r5ADN/jM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62269 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352451|ensembl:ENSP00000211372|ensembl:ENSP00000393241|ensembl:ENSP00000403175|ensembl:ENSP00000412583|ensembl:ENSP00000416110|uniprotkb:P25232|uniprotkb:Q6IPF8|uniprotkb:Q5SUJ3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs18_human(display_long)|uniprotkb:RPS18(gene name)|psi-mi:RPS18(display_short)|uniprotkb:D6S218E(gene name synonym)|uniprotkb:Ke-3(gene name synonym)|uniprotkb:Small ribosomal subunit protein uS13(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_072045.1|ensembl:ENSG00000096150(gene)|ensembl:ENSG00000223367(gene)|ensembl:ENSG00000226225(gene)|ensembl:ENSG00000231500(gene)|ensembl:ENSG00000235650(gene)|ensembl:ENST00000211372(transcript)|ensembl:ENST00000434122(transcript)|ensembl:ENST00000439602(transcript)|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|ensembl:ENST00000454021(transcript)|ensembl:ENST00000457341(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001892(Ribosomal protein S13)|interpro:IPR010979(Ribosomal protein S13-like, H2TH)|interpro:IPR018269|interpro:IPR027437|mint:P62269|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|dip:DIP-32892N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:yOHgKM/BuvgGdqp1OEVPeuiABg89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P49755 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-998422|uniprotkb:Q15602|uniprotkb:Q16536|uniprotkb:Q86TC2|uniprotkb:Q86TS5|uniprotkb:B2R605|intact:EBI-1058680|ensembl:ENSP00000303145 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tmeda_human(display_long)|uniprotkb:21 kDa transmembrane-trafficking protein(gene name synonym)|uniprotkb:Transmembrane protein Tmp21(gene name synonym)|uniprotkb:Tmp-21-I(gene name synonym)|uniprotkb:p24delta(gene name synonym)|uniprotkb:S31III125(gene name synonym)|uniprotkb:TMED10(gene name)|psi-mi:TMED10(display_short)|uniprotkb:TMP21(gene name synonym)|uniprotkb:p23(gene name synonym)|uniprotkb:p24 family protein delta-1(gene name synonym)|uniprotkb:S31I125(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0007030"(Golgi organization)|go:"GO:0008320"(protein transmembrane transporter activity)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019905"(syntaxin binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030134"(COPII-coated ER to Golgi transport vesicle)|go:"GO:0030137"(COPI-coated vesicle)|go:"GO:0030140"(trans-Golgi network transport vesicle)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0032732"(positive regulation of interleukin-1 production)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0035459"(vesicle cargo loading)|go:"GO:0035964"(COPI-coated vesicle budding)|go:"GO:0042470"(melanosome)|go:"GO:0042589"(zymogen granule membrane)|go:"GO:0043279"(response to alkaloid)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045055"(regulated exocytosis)|go:"GO:0048199"(vesicle targeting, to, from or within Golgi)|go:"GO:0048205"(COPI coating of Golgi vesicle)|go:"GO:0048208"(COPII vesicle coating)|go:"GO:0050714"(positive regulation of protein secretion)|go:"GO:0070765"(gamma-secretase complex)|go:"GO:0106272"(protein localization to ERGIC)|go:"GO:0106273"(cytosol to ERGIC protein transport)|go:"GO:1902003"(regulation of amyloid-beta formation)|go:"GO:1902960"(negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process)|interpro:IPR009038(GOLD)|interpro:IPR015720(TMP21 related)|mint:P49755|reactome:R-HSA-204005|reactome:R-HSA-5694530|reactome:R-HSA-6807878|reactome:R-HSA-6811434|go:"GO:0006890"(retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum)|ensembl:ENSG00000170348(gene)|ensembl:ENST00000303575(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001822"(kidney development)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005801"(cis-Golgi network)|go:"GO:0005886"(plasma membrane)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|refseq:NP_006818.3 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Sj4B0x1qf0VJmI1aDFaw2/PiTxM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PHV5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27045688|ensembl:ENSP00000387319 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9phv5_human(display_long)|uniprotkb:ITPRID2(gene name)|psi-mi:ITPRID2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138434(gene)|ensembl:ENST00000409001(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|interpro:IPR026648|interpro:IPR029325|interpro:IPR029326|interpro:IPR043444|refseq:NP_001274432.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qyzjWH7EO93qsYvJ7pgYR+NRNjA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q3KQU3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-713229|uniprotkb:Q9HBQ2|uniprotkb:Q8N905|uniprotkb:Q9ULN3|uniprotkb:Q7L8J5|uniprotkb:Q8TAK0|intact:EBI-2511981|intact:EBI-1056140|ensembl:ENSP00000362244|uniprotkb:Q9NW29|uniprotkb:D3DPS4 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ma7d1_human(display_long)|uniprotkb:MAP7D1(gene name)|psi-mi:MAP7D1(display_short)|uniprotkb:KIAA1187(gene name synonym)|uniprotkb:PARCC1(gene name synonym)|uniprotkb:RPRC1(gene name synonym)|uniprotkb:Proline/arginine-rich coiled-coil domain-containing protein 1(gene name synonym)|uniprotkb:Arginine/proline-rich coiled-coil domain-containing protein 1(gene name synonym)|uniprotkb:PP2464(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001273294.1|refseq:NP_001273295.1|ensembl:ENSG00000116871(gene)|ensembl:ENST00000373151(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0005819"(spindle)|go:"GO:0005829"(cytosol)|go:"GO:0015630"(microtubule cytoskeleton)|interpro:IPR008604(E-MAP-115)|mint:Q3KQU3|refseq:NP_060537.3 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:AEal3/uaJsdRBdmijI8nuthBD9k9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O00567 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-396034|uniprotkb:Q2M3T6|uniprotkb:Q9NQ05|ensembl:ENSP00000370589 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nop56_human(display_long)|uniprotkb:NOP56(gene name)|psi-mi:NOP56(display_short)|uniprotkb:NOL5A(gene name synonym)|uniprotkb:Nucleolar protein 5A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006383.2|ensembl:ENSG00000101361(gene)|ensembl:ENST00000329276(transcript)|go:"GO:0001650"(fibrillar center)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005732"("sno(s)RNA-containing ribonucleoprotein complex")|go:"GO:0005737"(cytoplasm)|go:"GO:0006364"(rRNA processing)|go:"GO:0016020"(membrane)|go:"GO:0030515"(snoRNA binding)|go:"GO:0031428"(box C/D RNP complex)|go:"GO:0032040"(small-subunit processome)|go:"GO:0045296"(cadherin binding)|go:"GO:0070761"(pre-snoRNP complex)|go:"GO:1990226"(histone methyltransferase binding)|interpro:IPR002687(Pre-mRNA processing ribonucleoprotein, binding region)|interpro:IPR012974(NOP5, N-terminal)|interpro:IPR012976(NOSIC)|interpro:IPR036070|interpro:IPR042239|mint:O00567|reactome:R-HSA-390471|reactome:R-HSA-6790901|reactome:R-HSA-6791226 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nXIsxj5Spl+kflK0yGJFykVylmA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F8VYE8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043886|ensembl:ENSP00000448981 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f8vye8_human(display_long)|uniprotkb:PPP1CC(gene name)|psi-mi:PPP1CC(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000186298(gene)|ensembl:ENST00000550991(transcript)|go:"GO:0000164"(protein phosphatase type 1 complex)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005977"(glycogen metabolic process)|go:"GO:0046872"(metal ion binding)|go:"GO:0051301"(cell division)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|go:"GO:0106306"|go:"GO:0106307"|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR006186("Serine/threonine-specific protein phosphatase and bis(5-nucleosyl)-tetraphosphatase")|interpro:IPR029052|interpro:IPR031675|interpro:IPR037979 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:EBrlHzeyjZfe+nSqdttxrL78UMY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y5B9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1046849|uniprotkb:Q6GMT8|uniprotkb:Q6P2F1|uniprotkb:Q6PJM1|uniprotkb:Q9NRX0|ensembl:ENSP00000216297 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sp16h_human(display_long)|uniprotkb:Facilitates chromatin transcription complex subunit SPT16(gene name synonym)|uniprotkb:FACT 140 kDa subunit(gene name synonym)|uniprotkb:FACTp140(gene name synonym)|uniprotkb:Chromatin-specific transcription elongation factor 140 kDa subunit(gene name synonym)|uniprotkb:SUPT16H(gene name)|psi-mi:SUPT16H(display_short)|uniprotkb:FACT140(gene name synonym)|uniprotkb:FACTP140(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000092201(gene)|ensembl:ENST00000216297(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006260"(DNA replication)|go:"GO:0006281"(DNA repair)|go:"GO:0006337"(nucleosome disassembly)|go:"GO:0006366"(transcription by RNA polymerase II)|go:"GO:0006368"(transcription elongation from RNA polymerase II promoter)|go:"GO:0031491"(nucleosome binding)|go:"GO:0032786"(positive regulation of DNA-templated transcription, elongation)|go:"GO:0032968"(positive regulation of transcription elongation from RNA polymerase II promoter)|go:"GO:0034724"(DNA replication-independent chromatin organization)|go:"GO:0035101"(FACT complex)|interpro:IPR000994(Peptidase M24, catalytic core)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013719(Region of unknown function DUF1747, eukaryote)|interpro:IPR013953(FACT complex subunit Spt16p/Cdc68p)|interpro:IPR029148|interpro:IPR029149|interpro:IPR033825|interpro:IPR036005|interpro:IPR040258|mint:Q9Y5B9|rcsb pdb:4Z2M|rcsb pdb:4Z2N|rcsb pdb:5E5B|rcsb pdb:5UMT|rcsb pdb:5UMU|rcsb pdb:5XM2|rcsb pdb:6UPK|rcsb pdb:6UPL|reactome:R-HSA-112382|reactome:R-HSA-167152|reactome:R-HSA-167200|reactome:R-HSA-167238|reactome:R-HSA-167243|reactome:R-HSA-167246|reactome:R-HSA-167287|reactome:R-HSA-167290|reactome:R-HSA-674695|reactome:R-HSA-6796648|reactome:R-HSA-6804756|reactome:R-HSA-75955|refseq:NP_009123.1|dip:DIP-42757N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:jLK5dOF3mEyI0UbZhcNgtdlG+WI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y6E7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044041|ensembl:ENSP00000405117 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y6e7_human(display_long)|uniprotkb:RBMX(gene name)|psi-mi:RBMX(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000147274(gene)|ensembl:ENST00000419968(transcript)|go:"GO:0003723"(RNA binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR003954(RNA recognition, region 1)|interpro:IPR012604(RBM1CTR)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qwBtrHgoUSMYb3hfrWsqOdn/XiI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P16144 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-948678|ensembl:ENSP00000200181|uniprotkb:O14690|uniprotkb:O14691|uniprotkb:O15339|uniprotkb:O15340|uniprotkb:O15341|uniprotkb:Q9UIQ4|uniprotkb:A0AVL6|uniprotkb:Q0VF97 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:itb4_human(display_long)|uniprotkb:GP150(gene name synonym)|uniprotkb:ITGB4(gene name)|psi-mi:ITGB4(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 dip:DIP-40182N|ensembl:ENSG00000132470(gene)|ensembl:ENST00000200181(transcript)|go:"GO:0001664"(G protein-coupled receptor binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005604"(basement membrane)|go:"GO:0005730"(nucleolus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006914"(autophagy)|go:"GO:0007155"(cell adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0008305"(integrin complex)|go:"GO:0009611"(response to wounding)|go:"GO:0009925"(basal plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0016477"(cell migration)|go:"GO:0030054"(cell junction)|go:"GO:0030056"(hemidesmosome)|go:"GO:0031252"(cell leading edge)|go:"GO:0031581"(hemidesmosome assembly)|go:"GO:0031965"(nuclear membrane)|go:"GO:0032290"(peripheral nervous system myelin formation)|go:"GO:0033627"(cell adhesion mediated by integrin)|go:"GO:0035878"(nail development)|go:"GO:0043235"(receptor complex)|go:"GO:0043589"(skin morphogenesis)|go:"GO:0046847"(filopodium assembly)|go:"GO:0048333"(mesodermal cell differentiation)|go:"GO:0048870"(cell motility)|go:"GO:0061450"(trophoblast cell migration)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000742(EGF-like, type 3)|interpro:IPR002369(Integrin beta subunit, N-terminal)|interpro:IPR003644(Na-Ca exchanger/integrin-beta4)|interpro:IPR003961(Fibronectin, type III)|interpro:IPR012013(Integrin beta-4 subunit)|interpro:IPR012896(Integrin beta subunit, tail)|interpro:IPR013111(EGF, extracellular)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR015812(Integrin beta subunit)|interpro:IPR016201(Plexin-like fold)|interpro:IPR033760|interpro:IPR036116|interpro:IPR036349|interpro:IPR036465|interpro:IPR038081|interpro:IPR040622|mint:P16144|rcsb pdb:1QG3|rcsb pdb:2YRZ|rcsb pdb:3F7P|rcsb pdb:3F7Q|rcsb pdb:3F7R|rcsb pdb:3FQ4|rcsb pdb:3FSO|rcsb pdb:3H6A|rcsb pdb:4Q58|rcsb pdb:4WTW|rcsb pdb:4WTX|rcsb pdb:6GVK|rcsb pdb:6GVL|reactome:R-HSA-2022090|reactome:R-HSA-3000157|reactome:R-HSA-3000170|reactome:R-HSA-446107|refseq:NP_000204.3|refseq:NP_001005619.1|refseq:NP_001005731.1|refseq:NP_001308052.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XSzTESyjef5LPBxsph8tWNGJ2u49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P05556 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-703066|intact:EBI-4289597|ensembl:ENSP00000303351|ensembl:ENSP00000379350|ensembl:ENSP00000398029|ensembl:ENSP00000404546|ensembl:ENSP00000502882|ensembl:ENSP00000503546|ensembl:ENSP00000503916|ensembl:ENSP00000504205|ensembl:ENSP00000504444|uniprotkb:Q7Z3V1|uniprotkb:Q8WUM6|uniprotkb:P78466|uniprotkb:P78467|uniprotkb:Q13089|uniprotkb:Q13090|uniprotkb:Q13091|uniprotkb:Q13212|uniprotkb:Q14622|uniprotkb:Q14647|uniprotkb:A8K6N2|uniprotkb:Q29RW2|uniprotkb:D3DRX9|uniprotkb:D3DRY3|uniprotkb:D3DRY4|uniprotkb:D3DRY5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:itb1_human(display_long)|uniprotkb:Fibronectin receptor subunit beta(gene name synonym)|uniprotkb:VLA-4 subunit beta(gene name synonym)|uniprotkb:ITGB1(gene name)|psi-mi:ITGB1(display_short)|uniprotkb:FNRB(gene name synonym)|uniprotkb:MDF2(gene name synonym)|uniprotkb:MSK12(gene name synonym)|uniprotkb:Glycoprotein IIa(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0001618"(virus receptor activity)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0001708"(cell fate specification)|go:"GO:0001726"(ruffle)|go:"GO:0001968"(fibronectin binding)|go:"GO:0002020"(protease binding)|go:"GO:0002042"(cell migration involved in sprouting angiogenesis)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006909"(phagocytosis)|go:"GO:0006968"(cellular defense response)|go:"GO:0007155"(cell adhesion)|go:"GO:0007156"(homophilic cell adhesion via plasma membrane adhesion molecules)|go:"GO:0007159"(leukocyte cell-cell adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007161"(calcium-independent cell-matrix adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008354"(germ cell migration)|go:"GO:0008542"(visual learning)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0010008"(endosome membrane)|go:"GO:0010710"(regulation of collagen catabolic process)|go:"GO:0010763"(positive regulation of fibroblast migration)|go:"GO:0014704"(intercalated disc)|go:"GO:0015026"(coreceptor activity)|go:"GO:0016020"(membrane)|go:"GO:0016477"(cell migration)|go:"GO:0021943"(formation of radial glial scaffolds)|go:"GO:0023035"(CD40 signaling pathway)|go:"GO:0030027"(lamellipodium)|go:"GO:0030030"(cell projection organization)|go:"GO:0030032"(lamellipodium assembly)|go:"GO:0030175"(filopodium)|go:"GO:0030183"(B cell differentiation)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0031589"(cell-substrate adhesion)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0031623"(receptor internalization)|go:"GO:0032154"(cleavage furrow)|go:"GO:0032587"(ruffle membrane)|go:"GO:0033627"(cell adhesion mediated by integrin)|go:"GO:0033631"(cell-cell adhesion mediated by integrin)|go:"GO:0034113"(heterotypic cell-cell adhesion)|go:"GO:0034665"(integrin alpha1-beta1 complex)|go:"GO:0034666"(integrin alpha2-beta1 complex)|go:"GO:0034667"(integrin alpha3-beta1 complex)|go:"GO:0034668"(integrin alpha4-beta1 complex)|go:"GO:0034674"(integrin alpha5-beta1 complex)|go:"GO:0034677"(integrin alpha7-beta1 complex)|go:"GO:0034678"(integrin alpha8-beta1 complex)|go:"GO:0034680"(integrin alpha10-beta1 complex)|go:"GO:0034681"(integrin alpha11-beta1 complex)|go:"GO:0035024"(negative regulation of Rho protein signal transduction)|go:"GO:0035633"(maintenance of blood-brain barrier)|go:"GO:0035748"(myelin sheath abaxonal region)|go:"GO:0042383"(sarcolemma)|go:"GO:0042470"(melanosome)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043197"(dendritic spine)|go:"GO:0043235"(receptor complex)|go:"GO:0043236"(laminin binding)|go:"GO:0043547"(positive regulation of GTPase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045121"(membrane raft)|go:"GO:0045214"(sarcomere organization)|go:"GO:0045296"(cadherin binding)|go:"GO:0045596"(negative regulation of cell differentiation)|go:"GO:0045766"(positive regulation of angiogenesis)|go:"GO:0046872"(metal ion binding)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0048333"(mesodermal cell differentiation)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048675"(axon extension)|go:"GO:0048813"(dendrite morphogenesis)|go:"GO:0050839"(cell adhesion molecule binding)|go:"GO:0050901"(leukocyte tethering or rolling)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0051897"(positive regulation of protein kinase B signaling)|go:"GO:0051951"(positive regulation of glutamate uptake involved in transmission of nerve impulse)|go:"GO:0055007"(cardiac muscle cell differentiation)|go:"GO:0055037"(recycling endosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071404"(cellular response to low-density lipoprotein particle stimulus)|go:"GO:0071711"(basement membrane organization)|go:"GO:0090303"(positive regulation of wound healing)|go:"GO:0097386"(glial cell projection)|go:"GO:0098639"(collagen binding involved in cell-matrix adhesion)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099699"(integral component of synaptic membrane)|go:"GO:0150003"(regulation of spontaneous synaptic transmission)|go:"GO:0150103"(reactive gliosis)|go:"GO:1901979"(regulation of inward rectifier potassium channel activity)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|go:"GO:1990782"(protein tyrosine kinase binding)|go:"GO:2000273"(positive regulation of signaling receptor activity)|go:"GO:2000811"(negative regulation of anoikis)|interpro:IPR002369(Integrin beta subunit, N-terminal)|interpro:IPR012896(Integrin beta subunit, tail)|interpro:IPR013111(EGF, extracellular)|interpro:IPR014836(Integrin beta subunit, cytoplasmic)|interpro:IPR015812(Integrin beta subunit)|interpro:IPR016201(Plexin-like fold)|interpro:IPR027071|interpro:IPR032695|interpro:IPR033760|interpro:IPR036349|interpro:IPR036465|interpro:IPR040622|mint:P05556|rcsb pdb:1K11|rcsb pdb:1LHA|rcsb pdb:3G9W|rcsb pdb:3T9K|rcsb pdb:3VI3|rcsb pdb:3VI4|rcsb pdb:4DX9|rcsb pdb:4WJK|rcsb pdb:4WK0|rcsb pdb:4WK2|rcsb pdb:4WK4|rcsb pdb:7CEB|rcsb pdb:7CEC|rcsb pdb:7NWL|reactome:R-HSA-1566948|reactome:R-HSA-1566977|reactome:R-HSA-198933|ensembl:ENSG00000150093(gene)|ensembl:ENST00000302278(transcript)|ensembl:ENST00000396033(transcript)|ensembl:ENST00000417122(transcript)|ensembl:ENST00000437302(transcript)|ensembl:ENST00000677999(transcript)|ensembl:ENST00000678701(transcript)|ensembl:ENST00000678943(transcript)|ensembl:ENST00000678952(transcript)|ensembl:ENST00000678989(transcript)|go:"GO:0000082"(G1/S transition of mitotic cell cycle)|go:"GO:0000132"(establishment of mitotic spindle orientation)|refseq:NP_002202.2|refseq:NP_391988.1|refseq:NP_596867.1|dip:DIP-312N|reactome:R-HSA-202733|reactome:R-HSA-210991|reactome:R-HSA-2129379|reactome:R-HSA-216083|reactome:R-HSA-3000157|reactome:R-HSA-3000170|reactome:R-HSA-3000178|reactome:R-HSA-416700|reactome:R-HSA-445144|reactome:R-HSA-446343|reactome:R-HSA-447041|reactome:R-HSA-5663220|reactome:R-HSA-6785807|reactome:R-HSA-75892|reactome:R-HSA-8874081|reactome:R-HSA-8875513|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013408|reactome:R-HSA-9013423|reactome:R-HSA-9609690|reactome:R-HSA-9679191 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:FZ+lMRS6Zq07A8Lgmf5C6vEXUgM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:G3V203 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043935|ensembl:ENSP00000449610 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:g3v203_human(display_long)|uniprotkb:RPL18(gene name)|psi-mi:RPL18(display_short)|uniprotkb:hCG_2000370(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000549273(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR000039(Ribosomal protein L18e)|interpro:IPR021131|interpro:IPR021132|interpro:IPR036227|ensembl:ENSG00000063177(gene) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:gEFeDW74V2Z62PuIdOxiZTnO0rw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P05386 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354582|uniprotkb:A6NIB2|ensembl:ENSP00000346037 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rla1_human(display_long)|uniprotkb:RPLP1(gene name)|psi-mi:RPLP1(display_short)|uniprotkb:RRP1(gene name synonym)|uniprotkb:Large ribosomal subunit protein P1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000994.1|refseq:NP_998890.1|ensembl:ENSG00000137818(gene)|ensembl:ENST00000260379(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0006414"(translational elongation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0030295"(protein kinase activator activity)|go:"GO:0043021"(ribonucleoprotein complex binding)|interpro:IPR027534|interpro:IPR038716|mint:P05386|rcsb pdb:2LBF|rcsb pdb:4BEH|rcsb pdb:4V6X|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rHSXz4ZCJy+JH6OrjUgHiTK85mo9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q09666 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2555881|ensembl:ENSP00000367263|uniprotkb:A1A586 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ahnk_human(display_long)|uniprotkb:PM227(gene name synonym)|uniprotkb:Desmoyokin(gene name synonym)|uniprotkb:AHNAK(gene name)|psi-mi:AHNAK(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001611.1|ensembl:ENSG00000124942(gene)|ensembl:ENST00000378024(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0030315"(T-tubule)|go:"GO:0031982"(vesicle)|go:"GO:0042383"(sarcolemma)|go:"GO:0042802"(identical protein binding)|go:"GO:0043034"(costamere)|go:"GO:0043484"(regulation of RNA splicing)|go:"GO:0044291"(cell-cell contact zone)|go:"GO:0044548"(S100 protein binding)|go:"GO:0045296"(cadherin binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097493"(structural molecule activity conferring elasticity)|go:"GO:1901385"(regulation of voltage-gated calcium channel activity)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR036034|mint:Q09666|rcsb pdb:4DRW|rcsb pdb:4FTG|rcsb pdb:4HRG|refseq:NP_001333374.1|refseq:NP_001333375.1|refseq:NP_076965.2 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:u1oecAyIihgxzfTz0jholE8wksA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y8U5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044054|ensembl:ENSP00000422148 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y8u5_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000159692(gene)|ensembl:ENST00000503594(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0051287"(NAD binding)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR036291 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dG9+NkN2Hz2zLny0A4dfZ3FidYg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06576 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356231|ensembl:ENSP00000262030|uniprotkb:Q14283|uniprotkb:A8K4X0|intact:EBI-2322803 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:atpb_human(display_long)|uniprotkb:ATP5F1B(gene name)|psi-mi:ATP5F1B(display_short)|uniprotkb:ATP synthase F1 subunit beta(gene name synonym)|uniprotkb:ATP5B(gene name synonym)|uniprotkb:ATPMB(gene name synonym)|uniprotkb:ATPSB(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000110955(gene)|ensembl:ENST00000262030(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005739"(mitochondrion)|go:"GO:0005753"(mitochondrial proton-transporting ATP synthase complex)|go:"GO:0005754"(mitochondrial proton-transporting ATP synthase, catalytic core)|go:"GO:0005759"(mitochondrial matrix)|go:"GO:1902600"(proton transmembrane transport)|interpro:IPR000194(ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR004100(ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal)|interpro:IPR005722(ATPase, F1 complex, beta subunit)|interpro:IPR020003|interpro:IPR024034|interpro:IPR027417|interpro:IPR036121|mint:P06576|reactome:R-HSA-1268020|reactome:R-HSA-163210|reactome:R-HSA-2151201|reactome:R-HSA-8949613|go:"GO:0070062"(extracellular exosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0006091"(generation of precursor metabolites and energy)|go:"GO:0006754"(ATP biosynthetic process)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0031966"(mitochondrial membrane)|go:"GO:0042288"(MHC class I protein binding)|go:"GO:0042645"(mitochondrial nucleoid)|go:"GO:0042776"(mitochondrial ATP synthesis coupled proton transport)|go:"GO:0043532"(angiostatin binding)|go:"GO:0043536"(positive regulation of blood vessel endothelial cell migration)|go:"GO:0045259"(proton-transporting ATP synthase complex)|go:"GO:0045261"("proton-transporting ATP synthase complex, catalytic core F(1)")|go:"GO:0046933"(proton-transporting ATP synthase activity, rotational mechanism)|go:"GO:0046961"(proton-transporting ATPase activity, rotational mechanism)|go:"GO:0051453"(regulation of intracellular pH)|refseq:NP_001677.2 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:oLPUvG1tQkkzxzeAG6R0ZkZF+eg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y608 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1023718|uniprotkb:Q68CV3|uniprotkb:Q9NXH5|uniprotkb:A8K649|uniprotkb:A8MXR0|uniprotkb:B4DY63|ensembl:ENSP00000338727 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lrrf2_human(display_long)|uniprotkb:LRRFIP2(gene name)|psi-mi:LRRFIP2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001127841.1|refseq:NP_006300.1|refseq:NP_060194.1|refseq:XP_011532519.1|refseq:XP_011532520.1|refseq:XP_011532521.1|refseq:NP_001269620.1|ensembl:ENSG00000093167(gene)|ensembl:ENST00000336686(transcript)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0030275"(LRR domain binding)|interpro:IPR019139|mint:Q9Y608|refseq:XP_005265596.1|refseq:XP_005265597.1|refseq:XP_016862973.1|refseq:NP_001335239.1|refseq:NP_001335240.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ma/crL7UY91uJ8bqLfkX3K8aQLI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15836 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-722343|uniprotkb:Q9BRV4|ensembl:ENSP00000054666 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:vamp3_human(display_long)|uniprotkb:Synaptobrevin-3(gene name synonym)|uniprotkb:Cellubrevin(gene name synonym)|uniprotkb:VAMP3(gene name)|psi-mi:VAMP3(display_short)|uniprotkb:SYB3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004772.1|dip:DIP-56422N|ensembl:ENSG00000049245(gene)|ensembl:ENST00000054666(transcript)|go:"GO:0001921"(positive regulation of receptor recycling)|go:"GO:0005484"(SNAP receptor activity)|go:"GO:0005769"(early endosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006887"(exocytosis)|go:"GO:0006904"(vesicle docking involved in exocytosis)|go:"GO:0006906"(vesicle fusion)|go:"GO:0009986"(cell surface)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0017075"(syntaxin-1 binding)|go:"GO:0017156"(calcium-ion regulated exocytosis)|go:"GO:0019905"(syntaxin binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030136"(clathrin-coated vesicle)|go:"GO:0030141"(secretory granule)|go:"GO:0030285"(integral component of synaptic vesicle membrane)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031201"(SNARE complex)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0034446"(substrate adhesion-dependent cell spreading)|go:"GO:0035493"(SNARE complex assembly)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0043001"(Golgi to plasma membrane protein transport)|go:"GO:0043005"(neuron projection)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0055037"(recycling endosome)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0061025"(membrane fusion)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:1903531"(negative regulation of secretion by cell)|interpro:IPR001388(Synaptobrevin)|interpro:IPR016444(Synaptobrevin, metazoa/fungi)|interpro:IPR042855|mint:Q15836|reactome:R-HSA-1236974|reactome:R-HSA-6811440|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013405|reactome:R-HSA-9013406|reactome:R-HSA-9013407|reactome:R-HSA-9013408|reactome:R-HSA-9013409|reactome:R-HSA-9013423|reactome:R-HSA-9035034 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JeCaIwh36OpRqMG0MFnpFZyN6jU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y2S9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11030065|ensembl:ENSP00000317786 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y2s9_human(display_long)|uniprotkb:MPRIP(gene name)|psi-mi:MPRIP(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000133030(gene)|ensembl:ENST00000313485(transcript)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0005829"(cytosol) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8zQ06Dqyb8MrVdNyvRfBv6jFWsQ9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62854 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353438|uniprotkb:P02383|uniprotkb:Q3MHD8|uniprotkb:P70394|uniprotkb:Q06722|uniprotkb:Q6IRY4|ensembl:ENSP00000348849|ensembl:ENSP00000450339|ensembl:ENSP00000496643 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs26_human(display_long)|uniprotkb:RPS26(gene name)|psi-mi:RPS26(display_short)|uniprotkb:Small ribosomal subunit protein eS26(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001020.2|refseq:XP_005276741.1|rcsb pdb:6OLG|rcsb pdb:6OLF|ensembl:ENST00000356464(transcript)|ensembl:ENST00000552361(transcript)|ensembl:ENST00000646449(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0033119"(negative regulation of RNA splicing)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045296"(cadherin binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098556"(cytoplasmic side of rough endoplasmic reticulum membrane)|interpro:IPR000892(Ribosomal protein S26e)|interpro:IPR038551|mint:P62854|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6G5H|ensembl:ENSG00000197728(gene)|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-156827 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:bo2ruYMNjjLCMo/kwAWzmlJrrjU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H9B1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-766087|uniprotkb:Q8TCN7|uniprotkb:Q96F53|uniprotkb:Q96JF1|uniprotkb:Q96KH4|uniprotkb:B1AQ58|uniprotkb:B1AQ59|uniprotkb:Q86X08|ensembl:ENSP00000417980 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ehmt1_human(display_long)|uniprotkb:KMT1D(gene name synonym)|uniprotkb:Histone H3-K9 methyltransferase 5(gene name synonym)|uniprotkb:Euchromatic histone-lysine N-methyltransferase 1(gene name synonym)|uniprotkb:G9a-like protein 1(gene name synonym)|uniprotkb:Lysine N-methyltransferase 1D(gene name synonym)|uniprotkb:EHMT1(gene name)|psi-mi:EHMT1(display_short)|uniprotkb:EUHMTASE1(gene name synonym)|uniprotkb:KIAA1876(gene name synonym)|uniprotkb:GLP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001138999.1|refseq:NP_079033.4|ensembl:ENST00000371394|ensembl:ENSP00000485945|ensembl:ENSP00000417980|ensembl:ENST00000462484|ensembl:ENSP00000417328|dip:DIP-34585N|ensembl:ENSG00000181090(gene)|ensembl:ENST00000460843(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0002039"(p53 binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0006306"(DNA methylation)|go:"GO:0006325"(chromatin organization)|go:"GO:0008168"(methyltransferase activity)|go:"GO:0008270"(zinc ion binding)|go:"GO:0016279"(protein-lysine N-methyltransferase activity)|go:"GO:0016571"(histone methylation)|go:"GO:0016604"(nuclear body)|go:"GO:0018024"(histone-lysine N-methyltransferase activity)|go:"GO:0018026"(peptidyl-lysine monomethylation)|go:"GO:0018027"(peptidyl-lysine dimethylation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045995"(regulation of embryonic development)|go:"GO:0046974"("histone methyltransferase activity (H3-K9 specific)")|go:"GO:0046976"("histone methyltransferase activity (H3-K27 specific)")|go:"GO:0060992"(response to fungicide)|go:"GO:0070742"(C2H2 zinc finger domain binding)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|interpro:IPR001214(SET)|interpro:IPR002110(Ankyrin)|interpro:IPR007728(Pre-SET zinc-binding region)|interpro:IPR020683|interpro:IPR036770|interpro:IPR038035|interpro:IPR043550|mint:Q9H9B1|rcsb pdb:2IGQ|rcsb pdb:2RFI|rcsb pdb:3B7B|rcsb pdb:3B95|rcsb pdb:3FPD|rcsb pdb:3HNA|rcsb pdb:3MO0|rcsb pdb:3MO2|rcsb pdb:3MO5|rcsb pdb:3SW9|rcsb pdb:3SWC|rcsb pdb:4I51|rcsb pdb:5TTG|rcsb pdb:5TUZ|rcsb pdb:5V9J|rcsb pdb:5VSD|rcsb pdb:5VSF|rcsb pdb:6BY9|rcsb pdb:6MBO|rcsb pdb:6MBP|reactome:R-HSA-2559582|reactome:R-HSA-3214841|reactome:R-HSA-6804760|reactome:R-HSA-8853884|reactome:R-HSA-8953750 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4L6QOGSsRPi8hDjS2/BYShjpnf89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O60315 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-717614|uniprotkb:A0JP09|uniprotkb:Q9UED1|uniprotkb:B7Z2P2|uniprotkb:F5H814|ensembl:ENSP00000386854|ensembl:ENSP00000454157|ensembl:ENSP00000487174 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zeb2_human(display_long)|uniprotkb:Zinc finger homeobox protein 1b(gene name synonym)|uniprotkb:Smad-interacting protein 1(gene name synonym)|uniprotkb:ZEB2(gene name)|psi-mi:ZEB2(display_short)|uniprotkb:KIAA0569(gene name synonym)|uniprotkb:SIP1(gene name synonym)|uniprotkb:ZFX1B(gene name synonym)|uniprotkb:HRIHFB2411(orf name)|uniprotkb:ZFHX1B(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001165124.1|refseq:NP_055610.1|ensembl:ENST00000409487(transcript)|ensembl:ENST00000558170(transcript)|ensembl:ENST00000627532(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|ensembl:ENSG00000169554(gene)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007399"(nervous system development)|go:"GO:0019208"(phosphatase regulator activity)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045636"(positive regulation of melanocyte differentiation)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|go:"GO:0048023"(positive regulation of melanin biosynthetic process)|go:"GO:0048066"(developmental pigmentation)|go:"GO:0048856"(anatomical structure development)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0097324"(melanocyte migration)|go:"GO:1903056"(regulation of melanosome organization)|interpro:IPR001356(Homeobox)|interpro:IPR008598(Drought induced 19)|interpro:IPR009057(Homeodomain-like)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|mint:O60315|rcsb pdb:2DA7|go:"GO:0030511"(positive regulation of transforming growth factor beta receptor signaling pathway)|refseq:XP_006712944.1|refseq:XP_006712945.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:KIKq943mmyO6wbsDamXsyo0OnEo9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62995 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-725485|uniprotkb:O15449|uniprotkb:Q15815|uniprotkb:Q64283|uniprotkb:B4DVK2|uniprotkb:D3DNU3|ensembl:ENSP00000416959 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tra2b_human(display_long)|uniprotkb:TRA2B(gene name)|psi-mi:TRA2B(display_short)|uniprotkb:SFRS10(gene name synonym)|uniprotkb:Transformer-2 protein homolog B(gene name synonym)|uniprotkb:Splicing factor, arginine/serine-rich 10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004584.1|refseq:XP_005247760.1|refseq:NP_001230808.1|refseq:XP_011511374.1|ensembl:ENSG00000136527(gene)|ensembl:ENST00000453386(transcript)|go:"GO:0000302"(response to reactive oxygen species)|go:"GO:0000375"(RNA splicing, via transesterification reactions)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005637"(nuclear inner membrane)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0021796"(cerebral cortex regionalization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0036002"(pre-mRNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0043484"(regulation of RNA splicing)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0071333"(cellular response to glucose stimulus)|go:"GO:1990403"(embryonic brain development)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979|mint:P62995|rcsb pdb:2CQC|rcsb pdb:2KXN|rcsb pdb:2RRA|rcsb pdb:2RRB|reactome:R-HSA-72163|reactome:R-HSA-9013418|reactome:R-HSA-9013422|refseq:XP_016862522.1|dip:DIP-42278N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6uZGeHEDlIVsb2uPeo+9NoR4tDw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35613 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-750709|uniprotkb:Q7Z796|uniprotkb:Q8IZL7|intact:EBI-2553051|uniprotkb:A6NJW1|uniprotkb:D3YLG5|ensembl:ENSP00000333769 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:basi_human(display_long)|uniprotkb:Leukocyte activation antigen M6(gene name synonym)|uniprotkb:Collagenase stimulatory factor(gene name synonym)|uniprotkb:Extracellular matrix metalloproteinase inducer(gene name synonym)|uniprotkb:5F7(gene name synonym)|uniprotkb:Tumor cell-derived collagenase stimulatory factor(gene name synonym)|uniprotkb:OK blood group antigen(gene name synonym)|uniprotkb:BSG(gene name)|psi-mi:BSG(display_short)|uniprotkb:UNQ6505/PRO21383(orf name)|uniprotkb:Hepatoma-associated antigen(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001719.2|refseq:NP_940991.1|refseq:NP_940993.1|refseq:NP_001309172.1|refseq:NP_940992.1|refseq:XP_016882662.1|dip:DIP-50310N|ensembl:ENSG00000172270(gene)|ensembl:ENST00000333511(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001525"(angiogenesis)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001750"(photoreceptor outer segment)|go:"GO:0001917"(photoreceptor inner segment)|go:"GO:0002080"(acrosomal membrane)|go:"GO:0003407"(neural retina development)|go:"GO:0005537"(mannose binding)|go:"GO:0005739"(mitochondrion)|go:"GO:0005768"(endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007156"(homophilic cell adhesion via plasma membrane adhesion molecules)|go:"GO:0007166"(cell surface receptor signaling pathway)|go:"GO:0007411"(axon guidance)|go:"GO:0007566"(embryo implantation)|go:"GO:0010575"(positive regulation of vascular endothelial growth factor production)|go:"GO:0010595"(positive regulation of endothelial cell migration)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0030424"(axon)|go:"GO:0030593"(neutrophil chemotaxis)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042383"(sarcolemma)|go:"GO:0042470"(melanosome)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043434"(response to peptide hormone)|go:"GO:0045121"(membrane raft)|go:"GO:0045296"(cadherin binding)|go:"GO:0045494"(photoreceptor cell maintenance)|go:"GO:0046598"(positive regulation of viral entry into host cell)|go:"GO:0046689"(response to mercury ion)|go:"GO:0046697"(decidualization)|go:"GO:0051591"(response to cAMP)|go:"GO:0061154"(endothelial tube morphogenesis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070593"(dendrite self-avoidance)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0098632"(cell-cell adhesion mediator activity)|go:"GO:1904466"(positive regulation of matrix metallopeptidase secretion)|interpro:IPR003598(Immunoglobulin subtype 2)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR043204|interpro:IPR044157|mint:P35613|rcsb pdb:3B5H|rcsb pdb:3I84|rcsb pdb:3I85|rcsb pdb:3QQN|rcsb pdb:4U0Q|rcsb pdb:5X0T|rcsb pdb:5XF0|rcsb pdb:6LYY|rcsb pdb:6LZ0|rcsb pdb:7CKO|rcsb pdb:7CKR|rcsb pdb:7DA5|reactome:R-HSA-1474228|reactome:R-HSA-210991|reactome:R-HSA-216083|reactome:R-HSA-433692|reactome:R-HSA-5619070|reactome:R-HSA-70268|rcsb pdb:3QR2 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:jVbDR+TKBzTjXoxR4At6XQg59ZA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P17844 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351962|uniprotkb:O75681|uniprotkb:Q53Y61|uniprotkb:B4DLW8|uniprotkb:E7ETL9|uniprotkb:B5BU21|uniprotkb:D3DU32|ensembl:ENSP00000225792|ensembl:ENSP00000403085|ensembl:ENSP00000463168|ensembl:ENSP00000464337|ensembl:ENSP00000504794 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ddx5_human(display_long)|uniprotkb:HLR1(gene name synonym)|uniprotkb:DDX5(gene name)|psi-mi:DDX5(display_short)|uniprotkb:HELR(gene name synonym)|uniprotkb:G17P1(gene name synonym)|uniprotkb:DEAD box protein 5(gene name synonym)|uniprotkb:RNA helicase p68(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004387.1|refseq:NP_001307524.1|refseq:NP_001307525.1|dip:DIP-29844N|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2001014"(regulation of skeletal muscle cell differentiation)|interpro:IPR000629(RNA helicase, ATP-dependent, DEAD-box, conserved site)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR012587(P68HR)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR014014(RNA helicase, DEAD-box type, Q motif)|interpro:IPR027417|mint:P17844|rcsb pdb:3FE2|rcsb pdb:4A4D|reactome:R-HSA-3899300|reactome:R-HSA-72163|reactome:R-HSA-9018519|reactome:R-HSA-9682706|reactome:R-HSA-9694686|ensembl:ENST00000225792(transcript)|ensembl:ENST00000450599(transcript)|ensembl:ENST00000577922(transcript)|ensembl:ENST00000585111(transcript)|ensembl:ENST00000676785(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000380"(alternative mRNA splicing, via spliceosome)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0000956"(nuclear-transcribed mRNA catabolic process)|go:"GO:0001837"(epithelial to mesenchymal transition)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0009299"(mRNA transcription)|go:"GO:0016020"(membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0030509"(BMP signaling pathway)|go:"GO:0030520"(intracellular estrogen receptor signaling pathway)|go:"GO:0030521"(androgen receptor signaling pathway)|go:"GO:0035500"(MH2 domain binding)|go:"GO:0036002"(pre-mRNA binding)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0043517"(positive regulation of DNA damage response, signal transduction by p53 class mediator)|go:"GO:0045069"(regulation of viral genome replication)|go:"GO:0045445"(myoblast differentiation)|go:"GO:0045667"(regulation of osteoblast differentiation)|go:"GO:0046332"(SMAD binding)|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0048511"(rhythmic process)|go:"GO:0050681"(androgen receptor binding)|go:"GO:0060765"(regulation of androgen receptor signaling pathway)|go:"GO:0061614"(miRNA transcription)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070412"(R-SMAD binding)|go:"GO:0070878"(primary miRNA binding)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:0072332"(intrinsic apoptotic signaling pathway by p53 class mediator)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1903800"(positive regulation of production of miRNAs involved in gene silencing by miRNA)|ensembl:ENSG00000108654(gene) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:BlaILQg90jqkI5+DdA0k5YTCGOo9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62857 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353027|ensembl:ENSP00000472469|uniprotkb:P25112 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs28_human(display_long)|uniprotkb:RPS28(gene name)|psi-mi:RPS28(display_short)|uniprotkb:Small ribosomal subunit protein eS28(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 mint:P62857|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|ensembl:ENSG00000233927(gene)|ensembl:ENST00000600659(transcript)|go:"GO:0000028"(ribosomal small subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030490"(maturation of SSU-rRNA)|go:"GO:0042254"(ribosome biogenesis)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098556"(cytoplasmic side of rough endoplasmic reticulum membrane)|interpro:IPR000289(Ribosomal protein S28e)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR028626|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZM7|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_001022.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:G4t8mOlzIiHEOXu+uS+AfySWAnM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KTE4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044197|ensembl:ENSP00000462938|ensembl:ENSP00000464538 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3kte4_human(display_long)|uniprotkb:RPL19(gene name)|psi-mi:RPL19(display_short)|uniprotkb:hCG_31402(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000108298(gene)|ensembl:ENST00000579260(transcript)|ensembl:ENST00000582193(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|interpro:IPR000196(Ribosomal protein L19/L19e)|interpro:IPR015972(Ribosomal protein L19/L19e, domain 1)|interpro:IPR023638|interpro:IPR033935|interpro:IPR035970|interpro:IPR039547|refseq:NP_001317129.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dWWvlwafnDx2VZf33AQNK2OYgZ89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62873 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357130|ensembl:ENSP00000367872|ensembl:ENSP00000481878|uniprotkb:P04901|uniprotkb:P04697|uniprotkb:B1AJZ7|uniprotkb:Q1RMY8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gbb1_human(display_long)|uniprotkb:GNB1(gene name)|psi-mi:GNB1(display_short)|uniprotkb:Transducin beta chain 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR001632(G-protein, beta subunit)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR016346(Guanine nucleotide-binding protein, beta subunit)|interpro:IPR019775|interpro:IPR020472|interpro:IPR036322|mint:P62873|rcsb pdb:4KFM|rcsb pdb:4PNK|rcsb pdb:5HE0|rcsb pdb:5HE1|rcsb pdb:5HE2|rcsb pdb:5HE3|rcsb pdb:5UKK|rcsb pdb:5UKL|rcsb pdb:5UKM|rcsb pdb:5UZ7|rcsb pdb:6B3J|rcsb pdb:6CRK|rcsb pdb:6D9H|rcsb pdb:6DDE|rcsb pdb:6DDF|rcsb pdb:6E3Y|rcsb pdb:6EG8|rcsb pdb:6G79|rcsb pdb:6GDG|rcsb pdb:6KPF|rcsb pdb:6KPG|go:"GO:1903561"(extracellular vesicle)|rcsb pdb:6LFM|rcsb pdb:6LFO|rcsb pdb:6LI3|rcsb pdb:6LMK|rcsb pdb:6LML|rcsb pdb:6M1H|rcsb pdb:6M1I|rcsb pdb:6M8S|rcsb pdb:6N4B|rcsb pdb:6NI3|rcsb pdb:6NIY|rcsb pdb:6OIJ|rcsb pdb:6OIK|rcsb pdb:6OMM|rcsb pdb:6ORV|rcsb pdb:6OS9|rcsb pdb:6OSA|rcsb pdb:6OT0|rcsb pdb:6P9X|rcsb pdb:6P9Y|rcsb pdb:6PB0|rcsb pdb:6PB1|rcsb pdb:6PT0|rcsb pdb:6UUN|rcsb pdb:6UUS|rcsb pdb:6UVA|rcsb pdb:6VCB|rcsb pdb:6VMS|rcsb pdb:6VN7|rcsb pdb:6WHA|rcsb pdb:6WHC|rcsb pdb:6WI9|rcsb pdb:6WPW|rcsb pdb:6WZG|rcsb pdb:6X18|rcsb pdb:6X19|rcsb pdb:6X1A|rcsb pdb:6XBJ|rcsb pdb:6XBK|rcsb pdb:6XBL|rcsb pdb:6XBM|rcsb pdb:6XOX|rcsb pdb:7AUE|rcsb pdb:7BB6|rcsb pdb:7BB7|rcsb pdb:7C2E|rcsb pdb:7CFM|rcsb pdb:7CFN|rcsb pdb:7CKW|rcsb pdb:7CKX|rcsb pdb:7CKY|rcsb pdb:7CKZ|rcsb pdb:7CMU|rcsb pdb:7CMV|rcsb pdb:7CRH|rcsb pdb:7CX2|rcsb pdb:7CX4|rcsb pdb:7D76|rcsb pdb:7D77|rcsb pdb:7D7M|rcsb pdb:7DFL|rcsb pdb:7E2X|rcsb pdb:7E2Y|rcsb pdb:7E2Z|rcsb pdb:7E32|rcsb pdb:7E33|rcsb pdb:7E9G|rcsb pdb:7E9H|rcsb pdb:7CX3|rcsb pdb:7EB2|rcsb pdb:7JOZ|rcsb pdb:7JV5|rcsb pdb:7JVP|rcsb pdb:7JVQ|rcsb pdb:7JVR|rcsb pdb:7K7L|rcsb pdb:7K7Z|rcsb pdb:7KH0|rcsb pdb:7L0P|rcsb pdb:7L0Q|rcsb pdb:7L0R|rcsb pdb:7L0S|rcsb pdb:7L1U|rcsb pdb:7L1V|rcsb pdb:7LCI|reactome:R-HSA-1296041|reactome:R-HSA-163359|reactome:R-HSA-202040|reactome:R-HSA-2485179|reactome:R-HSA-2514859|reactome:R-HSA-381676|reactome:R-HSA-381753|reactome:R-HSA-392170|reactome:R-HSA-392451|reactome:R-HSA-392851|reactome:R-HSA-400042|reactome:R-HSA-4086398|reactome:R-HSA-416476|reactome:R-HSA-416482|reactome:R-HSA-418217|reactome:R-HSA-418555|reactome:R-HSA-418592|reactome:R-HSA-418594|reactome:R-HSA-418597|reactome:R-HSA-420092|reactome:R-HSA-428930|reactome:R-HSA-432040|reactome:R-HSA-456926|reactome:R-HSA-500657|reactome:R-HSA-6814122|reactome:R-HSA-8964315|reactome:R-HSA-8964616|reactome:R-HSA-9009391|reactome:R-HSA-9660821|reactome:R-HSA-997272|ensembl:ENST00000610897(transcript)|go:"GO:0001917"(photoreceptor inner segment)|go:"GO:0003924"(GTPase activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005834"(heterotrimeric G-protein complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0007165"(signal transduction)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007191"(adenylate cyclase-activating dopamine receptor signaling pathway)|go:"GO:0007200"(phospholipase C-activating G protein-coupled receptor signaling pathway)|go:"GO:0007204"(positive regulation of cytosolic calcium ion concentration)|go:"GO:0007213"(G protein-coupled acetylcholine receptor signaling pathway)|go:"GO:0007265"(Ras protein signal transduction)|go:"GO:0008283"(cell population proliferation)|go:"GO:0010659"(cardiac muscle cell apoptotic process)|go:"GO:0016020"(membrane)|go:"GO:0030425"(dendrite)|go:"GO:0030507"(spectrin binding)|go:"GO:0031682"(G-protein gamma-subunit binding)|go:"GO:0042622"(photoreceptor outer segment membrane)|go:"GO:0044297"(cell body)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045202"(synapse)|go:"GO:0047391"(alkylglycerophosphoethanolamine phosphodiesterase activity)|go:"GO:0050909"(sensory perception of taste)|go:"GO:0051020"(GTPase binding)|go:"GO:0060041"(retina development in camera-type eye)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071380"(cellular response to prostaglandin E stimulus)|go:"GO:0071456"(cellular response to hypoxia)|go:"GO:0071870"(cellular response to catecholamine stimulus)|go:"GO:0097381"(photoreceptor disc membrane)|ensembl:ENSG00000078369(gene)|ensembl:ENST00000378609(transcript)|refseq:NP_001269467.1|refseq:NP_001269468.1|dip:DIP-599N|refseq:NP_002065.1|refseq:XP_016856548.1|refseq:XP_016856549.1|refseq:XP_016856550.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:zP/G70MXiSQpzbyyWFTWrJFQENk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F5H527 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043824|ensembl:ENSP00000444743 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f5h527_human(display_long)|uniprotkb:SSH2(gene name)|psi-mi:SSH2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000141298(gene)|ensembl:ENST00000540801(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0004725"(protein tyrosine phosphatase activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0008138"(protein tyrosine/serine/threonine phosphatase activity)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030837"(negative regulation of actin filament polymerization)|go:"GO:0106306"|go:"GO:0106307"|interpro:IPR000340(Protein-tyrosine phosphatase, dual specificity)|interpro:IPR000387(Protein-tyrosine phosphatase)|interpro:IPR014876(DEK C terminal)|interpro:IPR016130(Protein-tyrosine phosphatase, active site)|interpro:IPR020422|interpro:IPR029021|interpro:IPR043587|interpro:IPR043588|refseq:NP_001269058.1|refseq:XP_005258115.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qv9sogSADxE6dsjk4IkcV67fYks9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96JN0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-746045|uniprotkb:Q9H945|uniprotkb:Q9Y457|ensembl:ENSP00000348298|ensembl:ENSP00000360138|ensembl:ENSP00000360144|ensembl:ENSP00000501560|ensembl:ENSP00000501639|ensembl:ENSP00000502633|intact:EBI-8833163|uniprotkb:D3DR47|uniprotkb:Q5VW16|uniprotkb:Q7Z723|uniprotkb:Q86T32|uniprotkb:Q86T33|uniprotkb:Q8N3L6|uniprotkb:Q8N655 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lcor_human(display_long)|uniprotkb:LCOR(gene name)|psi-mi:LCOR(display_short)|uniprotkb:C10orf12(gene name synonym)|uniprotkb:KIAA1795(gene name synonym)|uniprotkb:MLR2(gene name synonym)|uniprotkb:Mblk1-related protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000196233(gene)|ensembl:ENST00000356016(transcript)|ensembl:ENST00000371097(transcript)|ensembl:ENST00000371103(transcript)|ensembl:ENST00000675471(transcript)|ensembl:ENST00000675537(transcript)|ensembl:ENST00000675971(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003677"(DNA binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0030331"(estrogen receptor binding)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:1990226"(histone methyltransferase binding)|go:"GO:1990381"(ubiquitin-specific protease binding)|interpro:IPR007889(Helix-turn-helix, Psq)|interpro:IPR009057(Homeodomain-like)|mint:Q96JN0|rcsb pdb:2COB|refseq:NP_001164236.1|refseq:NP_001164237.1|refseq:NP_115816.2|refseq:XP_016872275.1|refseq:XP_016872276.1|refseq:XP_016872277.1|refseq:NP_001333445.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:cOnk6EDDff86yaG1uG+dxEQ1Z689606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H3BPE1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11017948|ensembl:ENSP00000455274 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h3bpe1_human(display_long)|uniprotkb:MACF1(gene name)|psi-mi:MACF1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000127603(gene)|go:"GO:0003779"(actin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0008017"(microtubule binding)|go:"GO:0016020"(membrane)|go:"GO:0042995"(cell projection)|go:"GO:0045104"(intermediate filament cytoskeleton organization)|interpro:IPR001101(Plectin repeat)|interpro:IPR001452(Src homology-3)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR003108(Growth-arrest-specific protein 2)|interpro:IPR011992(EF-Hand type)|interpro:IPR018159|interpro:IPR018247|interpro:IPR035915|interpro:IPR036534|interpro:IPR036872|interpro:IPR041573|interpro:IPR041615|interpro:IPR043197|ensembl:ENST00000564288(transcript) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Tbj2Vjo+mBjKq45T/hWeiwxKC6c9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DKM5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043584 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dkm5_human(display_long)|uniprotkb:Voltage-dependent anion-selective channel protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0008308"(voltage-gated anion channel activity)|go:"GO:0015288"(porin activity)|go:"GO:0046930"(pore complex)|refseq:NP_001311016.1|refseq:NP_001311018.1|refseq:NP_001311019.1|interpro:IPR023614|interpro:IPR001925(Porin, eukaryotic type)|interpro:IPR027246|interpro:IPR030277 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:DEoGSMgnm86c0ELbKMstAWABe4M9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P10321 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1051396|uniprotkb:O78067|uniprotkb:O78072|uniprotkb:O78090|uniprotkb:O78149|uniprotkb:Q29921|uniprotkb:Q9UM42|intact:EBI-13916949|uniprotkb:O02863|intact:EBI-6163576|intact:EBI-4400689|intact:EBI-6163558|uniprotkb:O02864|uniprotkb:O02865|uniprotkb:O02866|uniprotkb:O02958|uniprotkb:O19505|uniprotkb:O19652|uniprotkb:O19676|uniprotkb:O62879|uniprotkb:O62882|uniprotkb:O62883|uniprotkb:O62888|uniprotkb:O78060|uniprotkb:O78061|uniprotkb:O78062|uniprotkb:O78063|uniprotkb:O78068|uniprotkb:O78069|uniprotkb:O78083|uniprotkb:O78091|uniprotkb:O78165|uniprotkb:O78166|uniprotkb:O78178|uniprotkb:O78202|uniprotkb:O78203|uniprotkb:O78211|uniprotkb:O78214|uniprotkb:P04222|uniprotkb:P30499|uniprotkb:P30500|uniprotkb:P30501|uniprotkb:P30502|uniprotkb:P30503|uniprotkb:P30504|uniprotkb:P30505|uniprotkb:P30506|uniprotkb:P30507|uniprotkb:P30508|uniprotkb:P30509|uniprotkb:P30510|uniprotkb:P79498|uniprotkb:Q07000|uniprotkb:Q29631|uniprotkb:Q29641|uniprotkb:Q29643|uniprotkb:Q29652|uniprotkb:Q29743|uniprotkb:Q29768|uniprotkb:Q29862|uniprotkb:Q29864|uniprotkb:Q29865|uniprotkb:Q29867|uniprotkb:Q29959|uniprotkb:Q29960|uniprotkb:Q29963|uniprotkb:Q29986|uniprotkb:Q29989|uniprotkb:Q9MY74|uniprotkb:Q9MYI3|uniprotkb:Q9TNN7|uniprotkb:Q9TNZ8|uniprotkb:Q9TPS4|uniprotkb:Q9TPV8|uniprotkb:Q9TPX2|uniprotkb:Q9TQB4|uniprotkb:Q9TQJ5|uniprotkb:Q9TQP9|uniprotkb:Q9UM32|uniprotkb:Q9UM33|uniprotkb:Q9UQS9|uniprotkb:Q29990|uniprotkb:Q29991|uniprotkb:Q29992|uniprotkb:Q29993|uniprotkb:Q30192|uniprotkb:Q31605|uniprotkb:Q31627|uniprotkb:Q9GJ33|uniprotkb:Q9MY30|uniprotkb:Q860R1|uniprotkb:Q860R2|uniprotkb:Q95463|uniprotkb:Q95603|uniprotkb:Q95604|uniprotkb:Q99528|uniprotkb:Q9BD28|uniprotkb:Q9GIK4|uniprotkb:Q9GIK8|intact:EBI-9978491|intact:EBI-3905378|intact:EBI-6163573|intact:EBI-1058803|intact:EBI-13917304|uniprotkb:Q9MY31|uniprotkb:Q9MY35|uniprotkb:Q9MY49|ensembl:ENSP00000365402 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hlac_human(display_long)|uniprotkb:HLA-Cw(gene name synonym)|uniprotkb:Human leukocyte antigen C(gene name synonym)|uniprotkb:HLAC(gene name synonym)|uniprotkb:HLA-C(gene name)|psi-mi:HLA-C(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002108.4|ensembl:ENSG00000204525(gene)|ensembl:ENST00000376228(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0002250"(adaptive immune response)|go:"GO:0002486"(antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006955"(immune response)|go:"GO:0009986"(cell surface)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0016020"(membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0042605"(peptide antigen binding)|go:"GO:0042612"(MHC class I protein complex)|go:"GO:0045087"(innate immune response)|go:"GO:0046977"(TAP binding)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071556"(integral component of lumenal side of endoplasmic reticulum membrane)|interpro:IPR001039(MHC class I, alpha chain, alpha1 and alpha2)|interpro:IPR003597(Immunoglobulin C1-set)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR010579(MHC class I, alpha chain, C-terminal)|interpro:IPR011161(MHC class I-like antigen recognition)|interpro:IPR011162(MHC classes I and II-like antigen recognition)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR037055|mint:P10321|rcsb pdb:1EFX|rcsb pdb:1IM9|rcsb pdb:1QQD|rcsb pdb:3BZF|rcsb pdb:4NT6|rcsb pdb:5VGD|rcsb pdb:5VGE|rcsb pdb:5W67|rcsb pdb:5W69|rcsb pdb:5W6A|rcsb pdb:6JTO|rcsb pdb:6PA1|rcsb pdb:6PAG|reactome:R-HSA-1236974|reactome:R-HSA-1236977|reactome:R-HSA-198933|reactome:R-HSA-2172127|reactome:R-HSA-6798695|reactome:R-HSA-877300|reactome:R-HSA-909733|reactome:R-HSA-983170 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VYYWt9SpNZEuu0jZkdCHEe65lAE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4E2S7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043612 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4e2s7_human(display_long) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005765"(lysosomal membrane)|go:"GO:0016021"(integral component of membrane)|interpro:IPR002000("Lysosome-associated membrane glycoprotein (Lamp)/CD68") intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qNwecn3k+DxaUSQxcOZnr1S2V7E9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DXZ6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-9985395|ensembl:ENSP00000418097 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dxz6_human(display_long)|uniprotkb:FXR1(gene name)|psi-mi:FXR1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0003729"(mRNA binding)|go:"GO:0005829"(cytosol)|go:"GO:0006417"(regulation of translation)|go:"GO:0007517"(muscle organ development)|interpro:IPR004087(K Homology)|interpro:IPR004088(K Homology, type 1)|interpro:IPR008395(Agenet)|interpro:IPR022034|interpro:IPR032172|interpro:IPR032177|interpro:IPR036612|interpro:IPR040148|interpro:IPR040472|interpro:IPR041560|ensembl:ENST00000480918(transcript)|ensembl:ENSG00000114416(gene) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:CbhskuCtN/S/BnsCy6lkKc2/C2k9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P40429 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-720205|uniprotkb:A8K505|ensembl:ENSP00000375730 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl13a_human(display_long)|uniprotkb:23 kDa highly basic protein(gene name synonym)|uniprotkb:RPL13A(gene name)|psi-mi:RPL13A(display_short)|uniprotkb:Large ribosomal subunit protein uL13(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036555.1|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|rcsb pdb:6OLF|ensembl:ENSG00000142541(gene)|ensembl:ENST00000391857(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0015934"(large ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0097452"(GAIT complex)|go:"GO:1901194"(negative regulation of formation of translation preinitiation complex)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR005755(Ribosomal protein L13, eukaryotic/archaeal)|interpro:IPR005822(Ribosomal protein L13)|interpro:IPR023563|interpro:IPR036899|mint:P40429|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|refseq:NP_001257420.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:pcKDTEBZXxtm1MAH+4nv0p3PqFs9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P98155 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-9004309|uniprotkb:B2RMZ7|uniprotkb:D3DRH6|uniprotkb:Q5VVF6|ensembl:ENSP00000371532 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:vldlr_human(display_long)|uniprotkb:VLDLR(gene name)|psi-mi:VLDLR(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001018066.1|refseq:NP_003374.3|dip:DIP-40925N|ensembl:ENST00000382100(transcript)|go:"GO:0005041"(low-density lipoprotein particle receptor activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005905"(clathrin-coated pit)|go:"GO:0006869"(lipid transport)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0007165"(signal transduction)|go:"GO:0007399"(nervous system development)|go:"GO:0007613"(memory)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0021517"(ventral spinal cord development)|go:"GO:0030229"(very-low-density lipoprotein particle receptor activity)|go:"GO:0034185"(apolipoprotein binding)|go:"GO:0034189"(very-low-density lipoprotein particle binding)|go:"GO:0034361"(very-low-density lipoprotein particle)|go:"GO:0034436"(glycoprotein transport)|go:"GO:0034447"(very-low-density lipoprotein particle clearance)|go:"GO:0038024"(cargo receptor activity)|go:"GO:0038025"(reelin receptor activity)|go:"GO:0038026"(reelin-mediated signaling pathway)|go:"GO:0043235"(receptor complex)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0048813"(dendrite morphogenesis)|go:"GO:1900006"(positive regulation of dendrite development)|interpro:IPR000033(Low-density lipoprotein receptor, YWTD repeat)|interpro:IPR000152(Aspartic acid and asparagine hydroxylation site)|interpro:IPR000742(EGF-like, type 3)|interpro:IPR001881(EGF-like calcium-binding)|interpro:IPR002172(Low density lipoprotein-receptor, class A, cysteine-rich)|interpro:IPR011042(Six-bladed beta-propeller, TolB-like)|interpro:IPR018097|interpro:IPR023415|interpro:IPR032931|interpro:IPR036055|rcsb pdb:1V9U|rcsb pdb:3DPR|rcsb pdb:6BYV|reactome:R-HSA-8866376|reactome:R-HSA-8866427|reactome:R-HSA-8964046|ensembl:ENSG00000147852(gene) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4OC31+mjsJMCq1cZU3uHFIZu+Y09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H7BY10 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044099|ensembl:ENSP00000347969 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h7by10_human(display_long)|uniprotkb:RPL23A(gene name)|psi-mi:RPL23A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000198242(gene)|ensembl:ENST00000355731(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|go:"GO:0019843"(rRNA binding)|interpro:IPR001014(Ribosomal protein L23, conserved site)|interpro:IPR005633(Ribosomal protein L23/L25, N-terminal)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR012678(Ribosomal protein L23/L15e, core)|interpro:IPR013025(Ribosomal protein L25/L23)|interpro:IPR019985 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3SYm/Yzyn951evHw4XTMVIGZTNw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H3K6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1642537|uniprotkb:A1L454|uniprotkb:A7YDY3|ensembl:ENSP00000331127|ensembl:ENSP00000498355 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:bola2_human(display_long)|uniprotkb:BOLA2(gene name)|psi-mi:BOLA2(display_short)|uniprotkb:BOLA2B(gene name)|psi-mi:BOLA2B(display_short)|uniprotkb:BOLA2A(gene name synonym)|uniprotkb:My016(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001026997.1|refseq:NP_001034271.1|refseq:NP_001307508.1|refseq:XP_016855107.1|ensembl:ENSG00000169627(gene)|ensembl:ENSG00000183336(gene)|ensembl:ENST00000330978(transcript)|ensembl:ENST00000651894(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006879"(cellular iron ion homeostasis)|go:"GO:0044571"([2Fe-2S] cluster assembly)|go:"GO:0051536"(iron-sulfur cluster binding)|go:"GO:0097428"(protein maturation by iron-sulfur cluster transfer)|interpro:IPR002634(BolA-like protein)|interpro:IPR036065|mint:Q9H3K6|reactome:R-HSA-8950505 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5TcFdmQcwx5trexmXkWp9Arn5zE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9JNW5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6190023|ensembl:ENSP00000420380 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9jnw5_human(display_long)|uniprotkb:RPL24(gene name)|psi-mi:RPL24(display_short)|uniprotkb:hCG_2023003(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000114391(gene)|ensembl:ENST00000469605(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|interpro:IPR000988(Ribosomal protein L24e)|interpro:IPR011017(TRASH)|interpro:IPR023442|interpro:IPR038630 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:OE53tm5RMpxZtGwHcVKogk9J89A9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13555 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1383465|uniprotkb:O00561|uniprotkb:Q5SWX4|uniprotkb:Q8NIA4|uniprotkb:O15378|uniprotkb:Q13556|uniprotkb:Q5SQZ3|uniprotkb:Q5SQZ4|uniprotkb:Q8N4I3|uniprotkb:Q13279|uniprotkb:Q13282|uniprotkb:Q7KYX5|uniprotkb:A0A0A0MS52|uniprotkb:A0A0A0MT11 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:kcc2g_human(display_long)|uniprotkb:CAMK(gene name synonym)|uniprotkb:CAMK-II(gene name synonym)|uniprotkb:CAMK2G(gene name)|psi-mi:CAMK2G(display_short)|uniprotkb:CAMKG(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001213.2|refseq:NP_751909.1|refseq:NP_751913.1|refseq:XP_005270260.1|refseq:NP_001307827.1|refseq:NP_001191421.1|dip:DIP-51315N|mint:Q13555|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-877300|reactome:R-HSA-9022692|reactome:R-HSA-936837|reactome:R-HSA-9609736|reactome:R-HSA-9617324|reactome:R-HSA-9620244|reactome:R-HSA-9649948|reactome:R-HSA-9656223|go:"GO:0004683"(calmodulin-dependent protein kinase activity)|go:"GO:0004723"(calcium-dependent protein serine/threonine phosphatase activity)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005954"(calcium- and calmodulin-dependent protein kinase complex)|go:"GO:0007399"(nervous system development)|go:"GO:0010975"(regulation of neuron projection development)|go:"GO:0014733"(regulation of skeletal muscle adaptation)|go:"GO:0016020"(membrane)|go:"GO:0030073"(insulin secretion)|go:"GO:0030154"(cell differentiation)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0033017"(sarcoplasmic reticulum membrane)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043005"(neuron projection)|go:"GO:0051924"(regulation of calcium ion transport)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|interpro:IPR000719(Protein kinase, core)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR013543(Calcium/calmodulin dependent protein kinase II, association-domain)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR032710|rcsb pdb:2UX0|rcsb pdb:2V7O|reactome:R-HSA-111932|reactome:R-HSA-3371571|reactome:R-HSA-399719|reactome:R-HSA-438066|reactome:R-HSA-442729|reactome:R-HSA-442982|reactome:R-HSA-5576892|reactome:R-HSA-5578775|reactome:R-HSA-5673000|reactome:R-HSA-5673001|reactome:R-HSA-6802946 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qtCEps5UkV7tprB2QmjCDK5YyIo9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14828 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-4401333|ensembl:ENSP00000307275|ensembl:ENSP00000461521|uniprotkb:A9Z1W6|uniprotkb:B1AVS6|uniprotkb:O15128|uniprotkb:Q96FR8|uniprotkb:Q9BPY0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:scam3_human(display_long)|uniprotkb:SCAMP3(gene name)|psi-mi:SCAMP3(display_short)|uniprotkb:C1orf3(gene name synonym)|uniprotkb:PROPIN1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000116521(gene)|ensembl:ENSG00000263290(gene)|ensembl:ENST00000302631(transcript)|ensembl:ENST00000570831(transcript)|go:"GO:0006892"(post-Golgi vesicle-mediated transport)|go:"GO:0015031"(protein transport)|go:"GO:0016021"(integral component of membrane)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0070062"(extracellular exosome)|interpro:IPR007273(SCAMP)|mint:O14828|ensembl:ENSP00000307275|ensembl:ENST00000355379|ensembl:ENSP00000347540|ensembl:ENSP00000461521|ensembl:ENST00000573013|ensembl:ENSP00000458542|refseq:NP_005689.2|refseq:NP_443069.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:q1GaoVa7cLS2hGHVUM5Nv2oX4x09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F8W914 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043925|ensembl:ENSP00000384825 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f8w914_human(display_long)|uniprotkb:RTN4(gene name)|psi-mi:RTN4(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000115310(gene)|ensembl:ENST00000402434(transcript)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0016021"(integral component of membrane)|interpro:IPR003388(Reticulon) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:+4e5delKyrpUpAhVM+RMTwZbvtM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P84090 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-711389|uniprotkb:P70659|uniprotkb:Q14259|ensembl:ENSP00000451080|uniprotkb:B2R5H2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:erh_human(display_long)|uniprotkb:ERH(gene name)|psi-mi:ERH(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000100632(gene)|ensembl:ENST00000557016(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006139"(nucleobase-containing compound metabolic process)|go:"GO:0006213"(pyrimidine nucleoside metabolic process)|go:"GO:0007049"(cell cycle)|go:"GO:0008327"(methyl-CpG binding)|go:"GO:0030496"(midbody)|go:"GO:0034709"(methylosome)|interpro:IPR000781(Enhancer of rudimentary)|interpro:IPR035912|mint:P84090|rcsb pdb:1W9G|rcsb pdb:2NML|rcsb pdb:7CNC|refseq:NP_004441.1|dip:DIP-42473N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:foMOmvZ9wQyH0rrzBB2YlQhrT0g9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EX17 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25629100|ensembl:ENSP00000388806 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7ex17_human(display_long)|uniprotkb:EIF4B(gene name)|psi-mi:EIF4B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000063046(gene)|ensembl:ENST00000420463(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0033592"(RNA strand annealing activity)|go:"GO:0097010"(eukaryotic translation initiation factor 4F complex assembly)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR033107|interpro:IPR035979|refseq:NP_001287750.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:9fo1FxRRxiyIO6+6EqK+g1VexLg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06703 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352877|ensembl:ENSP00000357708|ensembl:ENSP00000357709|ensembl:ENSP00000473589|uniprotkb:Q5RHS4|uniprotkb:D3DV39 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:s10a6_human(display_long)|uniprotkb:S100A6(gene name)|psi-mi:S100A6(display_short)|uniprotkb:CACY(gene name synonym)|uniprotkb:S100 calcium-binding protein A6(gene name synonym)|uniprotkb:Calcyclin(gene name synonym)|uniprotkb:Prolactin receptor-associated protein(gene name synonym)|uniprotkb:Growth factor-inducible protein 2A9(gene name synonym)|uniprotkb:MLN 4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000197956(gene)|ensembl:ENST00000368719(transcript)|ensembl:ENST00000368720(transcript)|ensembl:ENST00000496817(transcript)|go:"GO:0001726"(ruffle)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005523"(tropomyosin binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0007165"(signal transduction)|go:"GO:0007409"(axonogenesis)|go:"GO:0008270"(zinc ion binding)|go:"GO:0015075"(ion transmembrane transporter activity)|go:"GO:0031234"(extrinsic component of cytoplasmic side of plasma membrane)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0044548"(S100 protein binding)|go:"GO:0048146"(positive regulation of fibroblast proliferation)|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001751(S100/CaBP-9k-type, calcium binding)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR013787(S100/CaBP-9k-type, calcium binding, subdomain)|interpro:IPR018247|interpro:IPR034118|mint:P06703|rcsb pdb:1K8U|rcsb pdb:1K96|rcsb pdb:1K9K|rcsb pdb:1K9P|rcsb pdb:2M1K|rcsb pdb:4YBH|go:"GO:0062023"(collagen-containing extracellular matrix)|refseq:NP_055439.1|refseq:XP_016857522.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:y8rq2lO1c3DEoVaKnfoLEAHsqmo9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46778 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350634|uniprotkb:Q16699|ensembl:ENSP00000346027|ensembl:ENSP00000351021|ensembl:ENSP00000370569|ensembl:ENSP00000370574 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl21_human(display_long)|uniprotkb:RPL21(gene name)|psi-mi:RPL21(display_short)|uniprotkb:Large ribosomal subunit protein eL21(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:6LU8|refseq:NP_000973.2|ensembl:ENSG00000122026(gene)|ensembl:ENST00000272274(transcript)|ensembl:ENST00000311549(transcript)|ensembl:ENST00000319826(transcript)|ensembl:ENST00000326092(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|interpro:IPR001147(Ribosomal protein L21e)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR018259|interpro:IPR036948|mint:P46778|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6OLE|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:UCth+WL9Oj1Y9I5m4i/9X0a5WHk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A6NLM8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043489|ensembl:ENSP00000359102 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a6nlm8_human(display_long)|uniprotkb:SSR4(gene name)|psi-mi:SSR4(display_short)|uniprotkb:Translocon-associated protein subunit delta(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000180879(gene)|ensembl:ENST00000370085(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0016021"(integral component of membrane)|interpro:IPR008855(Translocon-associated) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GoRdb9VTYJlcUArLBQhFb7qBUKE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68431 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-79722|ensembl:ENSP00000352252|ensembl:ENSP00000358160|ensembl:ENSP00000366999|ensembl:ENSP00000480826|ensembl:ENSP00000482271|ensembl:ENSP00000483283|ensembl:ENSP00000484095|ensembl:ENSP00000484638|ensembl:ENSP00000484658|ensembl:ENSP00000484841|ensembl:ENSP00000489282|intact:EBI-1560041|uniprotkb:A0PJT7|uniprotkb:P02295|uniprotkb:P02296|uniprotkb:P16106|uniprotkb:Q6ISV8|uniprotkb:Q6NWP8|uniprotkb:Q6NWP9|uniprotkb:Q6NXU4|uniprotkb:Q71DJ3|uniprotkb:Q93081|uniprotkb:A5PLR1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h31_human(display_long)|uniprotkb:H3FA(gene name synonym)|uniprotkb:H3FL(gene name synonym)|uniprotkb:H3FD(gene name synonym)|uniprotkb:H3FI(gene name synonym)|uniprotkb:H3FH(gene name synonym)|uniprotkb:H3FK(gene name synonym)|uniprotkb:H3FF(gene name synonym)|uniprotkb:H3FJ(gene name synonym)|uniprotkb:H3FB(gene name synonym)|uniprotkb:Histone H3/a(gene name synonym)|uniprotkb:Histone H3/b(gene name synonym)|uniprotkb:Histone H3/c(gene name synonym)|uniprotkb:Histone H3/d(gene name synonym)|uniprotkb:Histone H3/f(gene name synonym)|uniprotkb:Histone H3/h(gene name synonym)|uniprotkb:Histone H3/i(gene name synonym)|uniprotkb:Histone H3/j(gene name synonym)|uniprotkb:Histone H3/k(gene name synonym)|uniprotkb:Histone H3/l(gene name synonym)|uniprotkb:H3C1(gene name)|psi-mi:H3C1(display_short)|uniprotkb:HIST1H3A(gene name synonym)|uniprotkb:H3C2(gene name)|psi-mi:H3C2(display_short)|uniprotkb:HIST1H3B(gene name synonym)|uniprotkb:H3C3(gene name)|psi-mi:H3C3(display_short)|uniprotkb:H3FC HIST1H3C(gene name synonym)|uniprotkb:H3C4(gene name)|psi-mi:H3C4(display_short)|uniprotkb:HIST1H3D(gene name synonym)|uniprotkb:H3C6(gene name)|psi-mi:H3C6(display_short)|uniprotkb:HIST1H3E(gene name synonym)|uniprotkb:H3C7(gene name)|psi-mi:H3C7(display_short)|uniprotkb:HIST1H3F(gene name synonym)|uniprotkb:H3C8(gene name)|psi-mi:H3C8(display_short)|uniprotkb:HIST1H3G(gene name synonym)|uniprotkb:H3C10(gene name)|psi-mi:H3C10(display_short)|uniprotkb:HIST1H3H(gene name synonym)|uniprotkb:H3C11(gene name)|psi-mi:H3C11(display_short)|uniprotkb:HIST1H3I(gene name synonym)|uniprotkb:H3C12(gene name)|psi-mi:H3C12(display_short)|uniprotkb:HIST1H3J(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:4TN7|rcsb pdb:4U68|rcsb pdb:4UP0|rcsb pdb:4UY4|rcsb pdb:4X3K|rcsb pdb:4Y6L|rcsb pdb:4YHP|rcsb pdb:4YHZ|rcsb pdb:4YM5|rcsb pdb:4YM6|rcsb pdb:4Z0R|rcsb pdb:4Z2M|rcsb pdb:5AV5|rcsb pdb:5AV6|rcsb pdb:5AV8|rcsb pdb:5AV9|rcsb pdb:4QBS|rcsb pdb:5AVB|rcsb pdb:5AVC|rcsb pdb:5B24|rcsb pdb:5B2I|rcsb pdb:5B31|rcsb pdb:5C11|rcsb pdb:5C13|rcsb pdb:5C3I|rcsb pdb:5CPI|rcsb pdb:5CPJ|rcsb pdb:5CPK|rcsb pdb:5D6Y|rcsb pdb:5DAH|rcsb pdb:5FB0|rcsb pdb:5FB1|rcsb pdb:5FFV|rcsb pdb:5GH9|rcsb pdb:5GSE|rcsb pdb:5GSU|rcsb pdb:5GT0|rcsb pdb:5GT3|rcsb pdb:5GTC|rcsb pdb:5H6Q|rcsb pdb:5H6R|rcsb pdb:5HJB|rcsb pdb:5HJC|rcsb pdb:5HJD|rcsb pdb:5HYN|rcsb pdb:5IQL|rcsb pdb:5J3V|rcsb pdb:5J9S|rcsb pdb:5JHN|rcsb pdb:5JIN|rcsb pdb:5JIY|rcsb pdb:5JJ0|rcsb pdb:5B2J|rcsb pdb:5JRG|rcsb pdb:5KJH|rcsb pdb:5KJI|rcsb pdb:5KKL|rcsb pdb:5LUG|rcsb pdb:5M5G|rcsb pdb:5MR8|rcsb pdb:5NNC|rcsb pdb:5OY3|rcsb pdb:5SVX|rcsb pdb:5SVY|rcsb pdb:5SZB|rcsb pdb:5SZC|rcsb pdb:5T0K|rcsb pdb:5T0M|rcsb pdb:5T1G|rcsb pdb:5T1I|rcsb pdb:5T8R|rcsb pdb:5TBN|rcsb pdb:5TDR|rcsb pdb:5TDW|rcsb pdb:5U2J|rcsb pdb:5V21|rcsb pdb:5V22|rcsb pdb:5VA6|rcsb pdb:5VAB|rcsb pdb:5VGE|rcsb pdb:5VNB|rcsb pdb:5NND|rcsb pdb:5WLE|rcsb pdb:5WVO|rcsb pdb:5WXG|rcsb pdb:5WXH|rcsb pdb:5WYI|rcsb pdb:5X60|rcsb pdb:5XF3|rcsb pdb:5XF4|rcsb pdb:5XF5|rcsb pdb:5XFQ|rcsb pdb:5XFR|rcsb pdb:5XNV|rcsb pdb:5XTZ|rcsb pdb:5Y0C|rcsb pdb:5Y0D|rcsb pdb:5Y20|rcsb pdb:5Y2F|rcsb pdb:5Z23|rcsb pdb:5Z30|rcsb pdb:6AXJ|rcsb pdb:6AZE|rcsb pdb:6BHD|rcsb pdb:6BHE|rcsb pdb:6BHG|rcsb pdb:6BHH|rcsb pdb:6BHI|rcsb pdb:6D07|rcsb pdb:6D08|rcsb pdb:6E83|rcsb pdb:6E86|rcsb pdb:5WFC|rcsb pdb:6F6D|rcsb pdb:6HTS|rcsb pdb:6IEU|rcsb pdb:6IIS|rcsb pdb:6IIT|rcsb pdb:6IPU|rcsb pdb:6IQ4|rcsb pdb:6JOU|rcsb pdb:6JR0|rcsb pdb:6JR1|rcsb pdb:6JXD|rcsb pdb:6K1I|rcsb pdb:6K1J|rcsb pdb:6K1K|rcsb pdb:6KE9|rcsb pdb:6KVD|rcsb pdb:6L49|rcsb pdb:6L4A|rcsb pdb:6L9H|rcsb pdb:6L9Z|rcsb pdb:6LA2|rcsb pdb:6LA8|rcsb pdb:6LA9|rcsb pdb:6LAB|rcsb pdb:6LE9|rcsb pdb:6LER|rcsb pdb:6LS6|rcsb pdb:6LSD|rcsb pdb:6M3V|rcsb pdb:6M44|rcsb pdb:6M4D|rcsb pdb:6M4G|rcsb pdb:6M4H|rcsb pdb:6MIL|rcsb pdb:6MIM|rcsb pdb:6MIN|rcsb pdb:6MIO|rcsb pdb:6MIQ|rcsb pdb:6PA1|rcsb pdb:6PAG|rcsb pdb:6HKT|rcsb pdb:6R8Y|rcsb pdb:6R8Z|rcsb pdb:6R90|rcsb pdb:6R91|rcsb pdb:6R93|rcsb pdb:6R94|rcsb pdb:6T90|rcsb pdb:6T93|rcsb pdb:6UPK|rcsb pdb:6UPL|rcsb pdb:6USJ|rcsb pdb:6V2H|rcsb pdb:6V2K|rcsb pdb:6V3N|rcsb pdb:6V41|rcsb pdb:6V92|rcsb pdb:6VIL|rcsb pdb:6WAV|rcsb pdb:6WW4|rcsb pdb:6YIF|rcsb pdb:6YIH|rcsb pdb:6YOV|rcsb pdb:7BWD|rcsb pdb:7C0M|rcsb pdb:7CCQ|rcsb pdb:6R92|rcsb pdb:7CCR|rcsb pdb:7D1Z|rcsb pdb:7DBP|rcsb pdb:7K5X|rcsb pdb:7K5Y|rcsb pdb:7K60|rcsb pdb:7K61|rcsb pdb:7K63|rcsb pdb:7KLR|rcsb pdb:7LYC|reactome:R-HSA-1266695|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-3214815|reactome:R-HSA-3214841|reactome:R-HSA-3214842|reactome:R-HSA-3214847|reactome:R-HSA-3214858|ensembl:ENSG00000197153(gene)|ensembl:ENSG00000197409(gene)|ensembl:ENSG00000273983(gene)|ensembl:ENSG00000274750(gene)|ensembl:ENSG00000275379(gene)|ensembl:ENSG00000275714(gene)|ensembl:ENSG00000277775(gene)|ensembl:ENSG00000278828(gene)|ensembl:ENSG00000286522(gene)|ensembl:ENSG00000287080(gene)|ensembl:ENST00000356476(transcript)|ensembl:ENST00000359303(transcript)|ensembl:ENST00000369163(transcript)|ensembl:ENST00000612966(transcript)|ensembl:ENST00000613854(transcript)|ensembl:ENST00000614378(transcript)|ensembl:ENST00000614911(transcript)|ensembl:ENST00000616365(transcript)|ensembl:ENST00000618052(transcript)|ensembl:ENST00000621411(transcript)|ensembl:ENST00000634733(transcript)|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9609690|reactome:R-HSA-9610379|reactome:R-HSA-9616222|reactome:R-HSA-3247509|reactome:R-HSA-9710421|go:"GO:0032200"(telomere organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0000228"(nuclear chromosome)|go:"GO:0045296"(cadherin binding)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0060968"(obsolete regulation of gene silencing)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000164(Histone H3)|interpro:IPR007125(Histone core)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|interpro:IPR009072(Histone-fold)|mint:P68431|rcsb pdb:1CS9|rcsb pdb:1CT6|rcsb pdb:1O9S|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|rcsb pdb:1Q3L|go:"GO:0005654"(nucleoplasm)|go:"GO:0006334"(nucleosome assembly)|rcsb pdb:2B2T|go:"GO:0006335"(DNA replication-dependent chromatin assembly)|rcsb pdb:2B2U|rcsb pdb:2B2V|rcsb pdb:2B2W|rcsb pdb:2C1J|rcsb pdb:2C1N|go:"GO:0016020"(membrane)|rcsb pdb:2CO0|rcsb pdb:2CV5|rcsb pdb:2FSA|rcsb pdb:2KWJ|rcsb pdb:2KWK|rcsb pdb:2L75|rcsb pdb:2LBM|rcsb pdb:2LGG|rcsb pdb:2M0O|reactome:R-HSA-983231|reactome:R-HSA-977225|rcsb pdb:2NDG|rcsb pdb:2OQ6|rcsb pdb:2OT7|rcsb pdb:2OX0|rcsb pdb:2RI7|rcsb pdb:2RR4|rcsb pdb:2UXN|rcsb pdb:2V85|rcsb pdb:2V89|rcsb pdb:2VNF|rcsb pdb:2VPG|rcsb pdb:2X0L|rcsb pdb:3A1B|rcsb pdb:2NDF|rcsb pdb:3AFA|rcsb pdb:3AVR|rcsb pdb:3AYW|rcsb pdb:3AZE|rcsb pdb:3AZF|rcsb pdb:3AZG|rcsb pdb:3AZH|rcsb pdb:3AZI|rcsb pdb:3AZJ|rcsb pdb:3AZL|rcsb pdb:3AZM|rcsb pdb:3AZN|rcsb pdb:3B95|rcsb pdb:3FDT|rcsb pdb:3KMT|rcsb pdb:3KQI|rcsb pdb:3LQI|rcsb pdb:3LQJ|rcsb pdb:3MP1|rcsb pdb:3O34|rcsb pdb:3O35|rcsb pdb:3O37|rcsb pdb:3QJ6|rcsb pdb:3RIG|rcsb pdb:3RIY|rcsb pdb:3SOU|rcsb pdb:3SOW|rcsb pdb:3U31|rcsb pdb:3U3D|rcsb pdb:3U4S|rcsb pdb:3U5N|rcsb pdb:3U5O|rcsb pdb:3AZK|rcsb pdb:3U5P|rcsb pdb:3UEE|rcsb pdb:3UEF|rcsb pdb:3UII|rcsb pdb:3UIK|rcsb pdb:3V43|rcsb pdb:3W96|rcsb pdb:3W97|rcsb pdb:3W98|rcsb pdb:3W99|rcsb pdb:3WA9|rcsb pdb:3WAA|rcsb pdb:3WKJ|rcsb pdb:3X1S|rcsb pdb:3X1T|rcsb pdb:3X1U|rcsb pdb:3X1V|rcsb pdb:3ZG6|rcsb pdb:3ZVY|rcsb pdb:4A0J|rcsb pdb:4A0N|rcsb pdb:4A7J|rcsb pdb:3UIG|rcsb pdb:4BD3|rcsb pdb:4C1Q|rcsb pdb:4F4U|rcsb pdb:4F56|rcsb pdb:4FWF|rcsb pdb:4HON|rcsb pdb:4I51|rcsb pdb:4L7X|rcsb pdb:4LK9|rcsb pdb:4LKA|rcsb pdb:4LLB|rcsb pdb:4LXL|rcsb pdb:4N4H|rcsb pdb:4QBQ|rcsb pdb:4QBR|refseq:NP_003520.1|refseq:NP_003521.2|refseq:NP_003522.1|refseq:NP_003523.1|refseq:NP_003524.1|refseq:NP_003525.1|refseq:NP_003526.1|refseq:NP_003527.1|refseq:NP_003528.1|refseq:NP_066298.1|dip:DIP-29371N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ood0OohxZHuhsWZtO7U7GMc+LwM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15511 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352975|uniprotkb:A6NEC4|uniprotkb:Q6PG42|ensembl:ENSP00000352918 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arpc5_human(display_long)|uniprotkb:ARPC5(gene name)|psi-mi:ARPC5(display_short)|uniprotkb:ARC16(gene name synonym)|uniprotkb:Arp2/3 complex 16 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005708.1|refseq:NP_001257368.1|dip:DIP-33144N|ensembl:ENSG00000162704(gene)|ensembl:ENST00000359856(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005768"(endosome)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0014909"(smooth muscle cell migration)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016477"(cell migration)|go:"GO:0021769"(orbitofrontal cortex development)|go:"GO:0030011"(maintenance of cell polarity)|go:"GO:0030027"(lamellipodium)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0030426"(growth cone)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0035861"(site of double-strand break)|go:"GO:0051639"(actin filament network formation)|go:"GO:0061842"(microtubule organizing center localization)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097581"(lamellipodium organization)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR006789("ARP2/3 complex 16 kDa subunit (p16-Arc)")|interpro:IPR036743|mint:O15511|rcsb pdb:6UHC|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-6798695|reactome:R-HSA-8856828|reactome:R-HSA-9664422 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kfZQK6CXdREnQNI1h+GlQpB/gPI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F2Z388 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043794|ensembl:ENSP00000362671|ensembl:ENSP00000437215|ensembl:ENSP00000486088|uniprotkb:H0Y3A0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f2z388_human(display_long)|uniprotkb:RPL35(gene name)|psi-mi:RPL35(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000136942(gene)|ensembl:ENST00000373570(transcript)|ensembl:ENST00000493018(transcript)|ensembl:ENST00000629845(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001854(Ribosomal protein L29)|interpro:IPR018254|interpro:IPR036049 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:NgDoZjLYptikVb/7OFyst20o40g9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8TCT9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-347472|uniprotkb:Q540H8|uniprotkb:Q5JWP2|uniprotkb:Q5JWP3|uniprotkb:Q5JWP4|uniprotkb:Q5JWP5|uniprotkb:Q7Z4F2|uniprotkb:Q86Y35|uniprotkb:Q95H87|uniprotkb:Q9H110|uniprotkb:Q9H111|uniprotkb:Q15K36|uniprotkb:B2RAY5|uniprotkb:E1P5L3|ensembl:ENSP00000343032 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hm13_human(display_long)|uniprotkb:HM13(gene name)|psi-mi:HM13(display_short)|uniprotkb:H13(gene name synonym)|uniprotkb:PSL3(gene name synonym)|uniprotkb:SPP(gene name synonym)|uniprotkb:Signal peptide peptidase(gene name synonym)|uniprotkb:Presenilin-like protein 3(gene name synonym)|uniprotkb:Intramembrane protease 1(gene name synonym)|uniprotkb:IMP1(gene name synonym)|uniprotkb:MSTP086(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_110416.1|refseq:NP_848695.1|refseq:NP_848696.1|refseq:NP_848697.1|ensembl:ENSG00000101294(gene)|ensembl:ENST00000340852(transcript)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005886"(plasma membrane)|go:"GO:0006465"(signal peptide processing)|go:"GO:0008233"(peptidase activity)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0033619"(membrane protein proteolysis)|go:"GO:0036513"(Derlin-1 retrotranslocation complex)|go:"GO:0042500"(aspartic endopeptidase activity, intramembrane cleaving)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0061960"(regulation of heme oxygenase activity)|go:"GO:0071458"(integral component of cytoplasmic side of endoplasmic reticulum membrane)|go:"GO:0071556"(integral component of lumenal side of endoplasmic reticulum membrane)|go:"GO:1904211"(membrane protein proteolysis involved in retrograde protein transport, ER to cytosol)|interpro:IPR006639(Peptidase A22, presenilin signal peptide)|interpro:IPR007369(Peptidase A22B, signal peptide peptidase)|reactome:R-HSA-9707587 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:DxNjJDcc+zomfXAj0TEaByKeNqc9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q71UI9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2954755|ensembl:ENSP00000308405|uniprotkb:A8MQC5|uniprotkb:Q6PK98|uniprotkb:Q59GV8|uniprotkb:A6NN01|uniprotkb:A6NKY0|uniprotkb:A6NFA8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2av_human(display_long)|uniprotkb:H2AZ2(gene name)|psi-mi:H2AZ2(display_short)|uniprotkb:H2A.F/Z(gene name synonym)|uniprotkb:H2A.Z variant histone 2(gene name synonym)|uniprotkb:H2AFV(gene name synonym)|uniprotkb:H2AV(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR007125(Histone core)|interpro:IPR002119(Histone H2A)|interpro:IPR009072(Histone-fold)|interpro:IPR032454|interpro:IPR032458|rcsb pdb:3WAA|rcsb pdb:6M4D|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214858|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-606279|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-912446|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-9018519|ensembl:ENSG00000105968(gene)|ensembl:ENST00000308153(transcript)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006342"|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0070062"(extracellular exosome)|refseq:NP_036544.1|refseq:NP_619541.1|refseq:NP_958844.1|refseq:NP_958924.1|refseq:NP_958925.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HWEdsnxjwV2Z0BAbsziMwaE/gXE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46781 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351206|uniprotkb:Q4QRK7|uniprotkb:Q9BVZ0|ensembl:ENSP00000302896|ensembl:ENSP00000375632|ensembl:ENSP00000375633|ensembl:ENSP00000478449|ensembl:ENSP00000479917|ensembl:ENSP00000480135|ensembl:ENSP00000480662|ensembl:ENSP00000481194|ensembl:ENSP00000481553|ensembl:ENSP00000481655|ensembl:ENSP00000481764|ensembl:ENSP00000481822|ensembl:ENSP00000482023|ensembl:ENSP00000482274|ensembl:ENSP00000482338|ensembl:ENSP00000482475|ensembl:ENSP00000483179|ensembl:ENSP00000484394|uniprotkb:A9C4C1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs9_human(display_long)|uniprotkb:RPS9(gene name)|psi-mi:RPS9(display_short)|uniprotkb:Small ribosomal subunit protein uS4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001004.2|refseq:NP_001308630.1|refseq:NP_001308631.1|refseq:NP_001308633.1|ensembl:ENSG00000170889(gene)|ensembl:ENSG00000274005(gene)|ensembl:ENSG00000274626(gene)|ensembl:ENSG00000274646(gene)|ensembl:ENSG00000274950(gene)|ensembl:ENSG00000275323(gene)|ensembl:ENSG00000277079(gene)|ensembl:ENSG00000277359(gene)|ensembl:ENSG00000278081(gene)|ensembl:ENSG00000278270(gene)|ensembl:ENST00000302907(transcript)|ensembl:ENST00000391752(transcript)|ensembl:ENST00000391753(transcript)|ensembl:ENST00000610826(transcript)|ensembl:ENST00000610953(transcript)|ensembl:ENST00000611921(transcript)|ensembl:ENST00000614737(transcript)|ensembl:ENST00000615346(transcript)|ensembl:ENST00000616082(transcript)|ensembl:ENST00000616536(transcript)|ensembl:ENST00000616839(transcript)|ensembl:ENST00000616877(transcript)|ensembl:ENST00000616928(transcript)|ensembl:ENST00000617291(transcript)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|ensembl:ENST00000618751(transcript)|go:"GO:0005829"(cytosol)|ensembl:ENST00000619229(transcript)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|ensembl:ENST00000620720(transcript)|ensembl:ENST00000620940(transcript)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0045182"(translation regulator activity)|go:"GO:0045202"(synapse)|go:"GO:0045903"(positive regulation of translational fidelity)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:1990932"(5.8S rRNA binding)|interpro:IPR001912(Ribosomal protein S4)|interpro:IPR002942(RNA-binding S4)|interpro:IPR005710(Ribosomal protein S4/S9, eukaryotic/archaeal)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|interpro:IPR018079|interpro:IPR022801|interpro:IPR036986|mint:P46781|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|go:"GO:0005634"(nucleus)|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|go:"GO:0005654"(nucleoplasm)|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PGNjkKMs8bMMOSOz2AQvwuCvO1A9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35268 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354533|intact:EBI-1055963|uniprotkb:Q6IBD1|uniprotkb:B2R495|ensembl:ENSP00000346088 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl22_human(display_long)|uniprotkb:RPL22(gene name)|psi-mi:RPL22(display_short)|uniprotkb:Heparin-binding protein HBp15(gene name synonym)|uniprotkb:Epstein-Barr virus small RNA-associated protein(gene name synonym)|uniprotkb:EBER-associated protein(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL22(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000974.1|ensembl:ENSG00000116251(gene)|ensembl:ENST00000234875(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0008201"(heparin binding)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042802"(identical protein binding)|go:"GO:0045182"(translation regulator activity)|go:"GO:0046632"(alpha-beta T cell differentiation)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098793"(presynapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099577"(regulation of translation at presynapse, modulating synaptic transmission)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR002671(Ribosomal protein L22e)|interpro:IPR038526|mint:P35268|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|reactome:R-HSA-72706|rcsb pdb:6Z6L|rcsb pdb:6Z6M|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0TVillnqDkHmdTwxIedAJCVAdzY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8WVC2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10276945|ensembl:ENSP00000388332 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:q8wvc2_human(display_long)|uniprotkb:RPS21(gene name)|psi-mi:RPS21(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000171858(gene)|ensembl:ENST00000450116(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001931(Ribosomal protein S21e)|interpro:IPR018279|interpro:IPR038579 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7TrXVkTVYP1Z3LvgeEAQqa3nWow9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62280 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1047710|uniprotkb:B2R4F5|uniprotkb:P04643|uniprotkb:Q498Y6|uniprotkb:Q6IRY0|ensembl:ENSP00000270625 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs11_human(display_long)|uniprotkb:RPS11(gene name)|psi-mi:RPS11(display_short)|uniprotkb:Small ribosomal subunit protein uS17(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001006.1|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000266(Ribosomal protein S17)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR019979|interpro:IPR028333|interpro:IPR032440|mint:P62280|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|go:"GO:0005840"(ribosome)|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|ensembl:ENSG00000142534(gene)|ensembl:ENST00000270625(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|rcsb pdb:6OM0|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0fqJjtWAuz31VTKt2mbteRoi8vA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NY12 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2510382|ensembl:ENSP00000226796|ensembl:ENSP00000378127|uniprotkb:Q5MJQ2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gar1_human(display_long)|uniprotkb:GAR1(gene name)|psi-mi:GAR1(display_short)|uniprotkb:NOLA1(gene name synonym)|uniprotkb:snoRNP protein GAR1(gene name synonym)|uniprotkb:Nucleolar protein family A member 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000109534(gene)|ensembl:ENST00000226796(transcript)|ensembl:ENST00000394631(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005697"(telomerase holoenzyme complex)|go:"GO:0007004"(telomere maintenance via telomerase)|go:"GO:0031429"(box H/ACA snoRNP complex)|go:"GO:0034513"(box H/ACA snoRNA binding)|go:"GO:0070034"(telomerase RNA binding)|go:"GO:0072589"(box H/ACA scaRNP complex)|go:"GO:0090661"(box H/ACA telomerase RNP complex)|interpro:IPR007504(Gar1 protein RNA-binding region)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR038664|mint:Q9NY12|rcsb pdb:7BGB|reactome:R-HSA-171319|go:"GO:0000454"(snoRNA guided rRNA pseudouridine synthesis)|reactome:R-HSA-6790901|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0001650"(fibrillar center)|go:"GO:0003723"(RNA binding)|refseq:NP_061856.1|refseq:NP_127460.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:voLJvYfWyMWtTf0VSd7XeY3psC09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6NZI2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2559016|uniprotkb:O00535|uniprotkb:Q96H74|uniprotkb:Q6GMY1|uniprotkb:B2RAW7|uniprotkb:Q9BT85|uniprotkb:Q9HAP4|ensembl:ENSP00000349541 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cavn1_human(display_long)|uniprotkb:CAVIN1(gene name)|psi-mi:CAVIN1(display_short)|uniprotkb:Cavin-1(gene name synonym)|uniprotkb:PTRF(gene name synonym)|uniprotkb:Polymerase I and transcript release factor(gene name synonym)|uniprotkb:FKSG13(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036364.2|ensembl:ENSG00000177469(gene)|ensembl:ENST00000357037(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005901"(caveola)|go:"GO:0006361"(transcription initiation from RNA polymerase I promoter)|go:"GO:0006363"(termination of RNA polymerase I transcription)|go:"GO:0009303"(rRNA transcription)|go:"GO:0009306"(protein secretion)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042134"(rRNA primary transcript binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045121"(membrane raft)|go:"GO:2000147"(positive regulation of cell motility)|interpro:IPR026752|mint:Q6NZI2|reactome:R-HSA-73863|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|interpro:IPR033297|dip:DIP-48550N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:55dzpwSSfj8aEzmgHKYdrHfgYBg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62899 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1053664|intact:EBI-3867511|uniprotkb:B7Z4K2|uniprotkb:P12947|uniprotkb:Q53SQ5|uniprotkb:Q6LBJ6|uniprotkb:D3DVJ4|uniprotkb:Q6IRZ0|ensembl:ENSP00000264258|ensembl:ENSP00000386681 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl31_human(display_long)|uniprotkb:RPL31(gene name)|psi-mi:RPL31(display_short)|uniprotkb:Large ribosomal subunit protein eL31(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000984.1|refseq:NP_001092047.1|refseq:NP_001093163.1|ensembl:ENSG00000071082(gene)|ensembl:ENST00000264258(transcript)|ensembl:ENST00000409733(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000054(Ribosomal protein L31e)|interpro:IPR020052|interpro:IPR023621|mint:P62899|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:77LFR7/2somk6blVogZf1XFdJLk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q03001 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-310758|uniprotkb:Q5TBT0|uniprotkb:Q8N1T8|uniprotkb:Q8N8J3|uniprotkb:Q8WXK9|uniprotkb:Q96AK9|uniprotkb:Q96DQ5|uniprotkb:B7Z3H1|uniprotkb:Q9UN10|uniprotkb:Q9H555|uniprotkb:Q5TBT2|uniprotkb:Q8WXK8|uniprotkb:O94833|uniprotkb:Q12825|uniprotkb:Q13266|uniprotkb:Q13267|uniprotkb:Q13775|uniprotkb:Q5TF23|uniprotkb:Q96J76|uniprotkb:Q96QT5|uniprotkb:Q9UGD7|uniprotkb:Q9UGD8|intact:EBI-350219|uniprotkb:E7ERU0|intact:EBI-350252|uniprotkb:Q5TF24|intact:EBI-310783 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dyst_human(display_long)|uniprotkb:DST(gene name)|psi-mi:DST(display_short)|uniprotkb:BPAG1(gene name synonym)|uniprotkb:DMH(gene name synonym)|uniprotkb:DT(gene name synonym)|uniprotkb:KIAA0728(gene name synonym)|uniprotkb:230 kDa bullous pemphigoid antigen(gene name synonym)|uniprotkb:Hemidesmosomal plaque protein(gene name synonym)|uniprotkb:Dystonia musculorum protein(gene name synonym)|uniprotkb:BP230(gene name synonym)|uniprotkb:BP240(gene name synonym)|uniprotkb:230/240 kDa bullous pemphigoid antigen(gene name synonym)|uniprotkb:Bullous pemphigoid antigen 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_016866713.1|refseq:NP_001714.1|refseq:NP_056363.2|mint:Q03001|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005604"(basement membrane)|go:"GO:0005634"(nucleus)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005882"(intermediate filament)|go:"GO:0005925"(focal adhesion)|go:"GO:0005938"(cell cortex)|go:"GO:0007010"(cytoskeleton organization)|go:"GO:0007155"(cell adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0008017"(microtubule binding)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008090"(retrograde axonal transport)|go:"GO:0009611"(response to wounding)|go:"GO:0009925"(basal plasma membrane)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030011"(maintenance of cell polarity)|go:"GO:0030018"(Z disc)|go:"GO:0030056"(hemidesmosome)|go:"GO:0030424"(axon)|go:"GO:0031122"(cytoplasmic microtubule organization)|go:"GO:0031252"(cell leading edge)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031581"(hemidesmosome assembly)|go:"GO:0031673"(H zone)|go:"GO:0035371"(microtubule plus-end)|go:"GO:0042060"(wound healing)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0045104"(intermediate filament cytoskeleton organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0048870"(cell motility)|go:"GO:0051010"(microtubule plus-end binding)|go:"GO:1904115"(axon cytoplasm)|interpro:IPR018159|interpro:IPR018247|interpro:IPR035915|interpro:IPR036534|interpro:IPR036872|interpro:IPR041573|interpro:IPR041615|interpro:IPR043197|rcsb pdb:3GJO|reactome:R-HSA-2022090|reactome:R-HSA-446107|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9696264|reactome:R-HSA-9696270|reactome:R-HSA-9696273|interpro:IPR001101(Plectin repeat)|interpro:IPR001452(Src homology-3)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR003108(Growth-arrest-specific protein 2)|interpro:IPR011992(EF-Hand type)|ensembl:ENST00000244364|ensembl:ENSP00000244364|ensembl:ENSG00000151914|ensembl:ENST00000370765|ensembl:ENSP00000359801|ensembl:ENST00000370788|ensembl:ENSP00000359824|ensembl:ENST00000439203|ensembl:ENSP00000404924|refseq:NP_001138241.1|refseq:NP_001138242.1|refseq:NP_899236.1|dip:DIP-33131N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5jynCc9AQYiyXSw6P4v3wzlVNU49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P51148 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1054923|intact:EBI-2798296|uniprotkb:Q9P0Y5|uniprotkb:Q6FH55|uniprotkb:F8W1H5|ensembl:ENSP00000345689|ensembl:ENSP00000377440 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rab5c_human(display_long)|uniprotkb:RABL(gene name synonym)|uniprotkb:RAB5C(gene name)|psi-mi:RAB5C(display_short)|uniprotkb:RAB5L(gene name synonym)|uniprotkb:L1880(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004574.2|refseq:NP_958842.1|refseq:XP_011523392.1|refseq:XP_011523393.1|refseq:NP_001238968.1|ensembl:ENSG00000108774(gene)|ensembl:ENST00000346213(transcript)|ensembl:ENST00000393860(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0003925"(G protein activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006897"(endocytosis)|go:"GO:0012505"(endomembrane system)|go:"GO:0019003"(GDP binding)|go:"GO:0030100"(regulation of endocytosis)|go:"GO:0030139"(endocytic vesicle)|go:"GO:0031901"(early endosome membrane)|go:"GO:0035577"(azurophil granule membrane)|go:"GO:0042470"(melanosome)|go:"GO:0048227"(plasma membrane to endosome transport)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|rcsb pdb:4KYI|reactome:R-HSA-432722|reactome:R-HSA-6798695|reactome:R-HSA-8854214|reactome:R-HSA-8856828|reactome:R-HSA-8873719|reactome:R-HSA-8876198 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:sz3lmmxPJk0/IzQ9dZF0PzfNhBY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P21796 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354158|uniprotkb:Q5FVE7|uniprotkb:Q9UIQ5|uniprotkb:Q9UPL0|uniprotkb:B3KVK4|uniprotkb:D3DQ93|ensembl:ENSP00000265333|ensembl:ENSP00000378484|ensembl:ENSP00000378487 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:vdac1_human(display_long)|uniprotkb:VDAC1(gene name)|psi-mi:VDAC1(display_short)|uniprotkb:VDAC(gene name synonym)|uniprotkb:Outer mitochondrial membrane protein porin 1(gene name synonym)|uniprotkb:Plasmalemmal porin(gene name synonym)|uniprotkb:Porin 31HL(gene name synonym)|uniprotkb:Porin 31HM(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003365.1|refseq:XP_005272132.1|refseq:XP_016865310.1|refseq:XP_016865311.1|refseq:XP_016865312.1|dip:DIP-32862N|ensembl:ENSG00000213585(gene)|ensembl:ENST00000265333(transcript)|ensembl:ENST00000395044(transcript)|ensembl:ENST00000395047(transcript)|go:"GO:0001662"(behavioral fear response)|go:"GO:0005634"(nucleus)|go:"GO:0005739"(mitochondrion)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005757"(mitochondrial permeability transition pore complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0006090"(pyruvate metabolic process)|go:"GO:0006820"(anion transport)|go:"GO:0006851"(mitochondrial calcium ion transmembrane transport)|go:"GO:0006915"(apoptotic process)|go:"GO:0007270"(neuron-neuron synaptic transmission)|go:"GO:0007612"(learning)|go:"GO:0008021"(synaptic vesicle)|go:"GO:0008308"(voltage-gated anion channel activity)|go:"GO:0015288"(porin activity)|go:"GO:0015485"(cholesterol binding)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030855"(epithelial cell differentiation)|go:"GO:0031210"(phosphatidylcholine binding)|go:"GO:0031966"(mitochondrial membrane)|go:"GO:0042645"(mitochondrial nucleoid)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045121"(membrane raft)|go:"GO:0046930"(pore complex)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097001"(ceramide binding)|go:"GO:0110099"(negative regulation of calcium import into the mitochondrion)|go:"GO:1901526"(positive regulation of mitophagy)|go:"GO:1903146"(regulation of autophagy of mitochondrion)|go:"GO:2000378"(negative regulation of reactive oxygen species metabolic process)|interpro:IPR001925(Porin, eukaryotic type)|interpro:IPR023614|interpro:IPR027246|interpro:IPR030270|mint:P21796|rcsb pdb:2JK4|rcsb pdb:2K4T|rcsb pdb:5JDP|rcsb pdb:5XDN|rcsb pdb:5XDO|rcsb pdb:6G6U|rcsb pdb:6G73|rcsb pdb:6TIQ|rcsb pdb:6TIR|reactome:R-HSA-1268020|reactome:R-HSA-5205685|reactome:R-HSA-5689880|reactome:R-HSA-70268|reactome:R-HSA-8949215 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8Fqe6Ga3NmwwuICa4L45ga2i1nk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15523 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2462220|uniprotkb:Q8IYV7|uniprotkb:B4DK29|uniprotkb:B4DXX7|ensembl:ENSP00000336725|ensembl:ENSP00000353284 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ddx3y_human(display_long)|uniprotkb:DDX3Y(gene name)|psi-mi:DDX3Y(display_short)|uniprotkb:DBY(gene name synonym)|uniprotkb:DEAD box protein 3, Y-chromosomal(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001116137.1|refseq:NP_004651.2|refseq:NP_001289481.1|ensembl:ENSG00000067048(gene)|ensembl:ENST00000336079(transcript)|ensembl:ENST00000360160(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007276"(gamete generation)|go:"GO:0016020"(membrane)|go:"GO:0030154"(cell differentiation)|go:"GO:0043186"(P granule)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR000629(RNA helicase, ATP-dependent, DEAD-box, conserved site)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR014014(RNA helicase, DEAD-box type, Q motif)|interpro:IPR027417|mint:O15523 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dYhBr9Igq5eMq9U8g+c30nfdaKo9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P37275 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2849734|uniprotkb:Q12924|uniprotkb:Q5T968|uniprotkb:Q13800|uniprotkb:Q2KJ05|uniprotkb:B4DJV0|uniprotkb:B4DUW9|uniprotkb:E9PCM7|uniprotkb:F5H4I8|uniprotkb:Q5VZ84|uniprotkb:Q8NB68|intact:EBI-11153310|ensembl:ENSP00000319248 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zeb1_human(display_long)|uniprotkb:ZEB1(gene name)|psi-mi:ZEB1(display_short)|uniprotkb:AREB6(gene name synonym)|uniprotkb:TCF8(gene name synonym)|uniprotkb:NIL-2-A zinc finger protein(gene name synonym)|uniprotkb:Negative regulator of IL2(gene name synonym)|uniprotkb:Transcription factor 8(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001121600.1|refseq:NP_001167565.1|refseq:NP_001167566.1|refseq:NP_110378.3|refseq:NP_001167564.1|refseq:NP_001167567.1|ensembl:ENSG00000148516(gene)|ensembl:ENST00000320985(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007399"(nervous system development)|go:"GO:0008270"(zinc ion binding)|go:"GO:0030154"(cell differentiation)|go:"GO:0045602"(negative regulation of endothelial cell differentiation)|go:"GO:0045666"(positive regulation of neuron differentiation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0048856"(anatomical structure development)|go:"GO:0070888"(E-box binding)|interpro:IPR001356(Homeobox)|interpro:IPR008598(Drought induced 19)|interpro:IPR009057(Homeodomain-like)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|rcsb pdb:2E19|reactome:R-HSA-6785807|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2QwbT74tbgA6Jec85fGMRYg0EBI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P08195 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-702356|uniprotkb:Q13543|ensembl:ENSP00000367122 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:4f2_human(display_long)|uniprotkb:Lymphocyte activation antigen 4F2 large subunit(gene name synonym)|uniprotkb:4F2 heavy chain antigen(gene name synonym)|uniprotkb:SLC3A2(gene name)|psi-mi:SLC3A2(display_short)|uniprotkb:MDU1(gene name synonym)|uniprotkb:Solute carrier family 3 member 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001012680.1|refseq:NP_001012682.1|refseq:NP_001013269.1|refseq:NP_002385.3|ensembl:ENSG00000168003(gene)|ensembl:ENST00000377890(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0003824"(catalytic activity)|go:"GO:0005432"("calcium:sodium antiporter activity")|go:"GO:0005654"(nucleoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005975"(carbohydrate metabolic process)|go:"GO:0006816"(calcium ion transport)|go:"GO:0006865"(amino acid transport)|go:"GO:0009925"(basal plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0015173"(aromatic amino acid transmembrane transporter activity)|go:"GO:0015175"(neutral amino acid transmembrane transporter activity)|go:"GO:0015180"(L-alanine transmembrane transporter activity)|go:"GO:0015190"(L-leucine transmembrane transporter activity)|go:"GO:0015820"(leucine transport)|go:"GO:0015823"(phenylalanine transport)|go:"GO:0015827"(tryptophan transport)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0042470"(melanosome)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0044225"(apical pole of neuron)|go:"GO:0045202"(synapse)|go:"GO:0045296"(cadherin binding)|go:"GO:0046718"(viral entry into host cell)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098713"(leucine import across plasma membrane)|go:"GO:1903801"(L-leucine import across plasma membrane)|go:"GO:1904273"(L-alanine import across plasma membrane)|go:"GO:1990184"(amino acid transport complex)|interpro:IPR006047(Glycosyl hydrolase, family 13, catalytic region)|interpro:IPR013780(Glycosyl hydrolase, family 13, all-beta)|interpro:IPR017853(Glycoside hydrolase, catalytic core)|interpro:IPR031984|interpro:IPR042280|mint:P08195|rcsb pdb:2DH2|rcsb pdb:2DH3|rcsb pdb:6IRS|rcsb pdb:6IRT|rcsb pdb:6JMQ|rcsb pdb:6JMR|rcsb pdb:6S8V|rcsb pdb:7CCS|reactome:R-HSA-210991|reactome:R-HSA-352230|reactome:R-HSA-5660862|reactome:R-HSA-71240 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:+7lJ/35nXzIs8SLCor0Vh5fAZYQ9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PJA7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043764|ensembl:ENSP00000433822 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pja7_human(display_long)|uniprotkb:BCLAF1(gene name)|psi-mi:BCLAF1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000029363(gene)|ensembl:ENST00000534269(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0006915"(apoptotic process)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:2001022"(positive regulation of response to DNA damage stimulus)|interpro:IPR026668|interpro:IPR029199 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:OW+9WzESkMkmDWF9PzNfj8EVkjw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KTL2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11019035|ensembl:ENSP00000463042 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3ktl2_human(display_long)|uniprotkb:SRSF1(gene name)|psi-mi:SRSF1(display_short)|uniprotkb:SFRS1(gene name synonym)|uniprotkb:Splicing factor, arginine/serine-rich 1(gene name synonym)|uniprotkb:hCG_1774411(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000136450(gene)|ensembl:ENST00000584773(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034520|interpro:IPR035979 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:K/tK4jD9609MsTb53X3c43wTR+49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q05682 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1642116|uniprotkb:Q13978|uniprotkb:Q13979|uniprotkb:Q14741|uniprotkb:Q14742|uniprotkb:Q9UD91|uniprotkb:A8K0X1|ensembl:ENSP00000354826 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cald1_human(display_long)|uniprotkb:CALD1(gene name)|psi-mi:CALD1(display_short)|uniprotkb:CAD(gene name synonym)|uniprotkb:CDM(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004333.1|refseq:NP_149129.2|refseq:NP_149130.1|refseq:NP_149131.1|refseq:NP_149347.2|refseq:XP_016868140.1|refseq:XP_016868141.1|ensembl:ENSG00000122786(gene)|ensembl:ENST00000361675(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0003779"(actin binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005523"(tropomyosin binding)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0006936"(muscle contraction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0017022"(myosin binding)|go:"GO:0030016"(myofibril)|go:"GO:0030478"(actin cap)|go:"GO:0045296"(cadherin binding)|go:"GO:0051017"(actin filament bundle assembly)|interpro:IPR006017(Caldesmon)|interpro:IPR006018(Caldesmon and lymphocyte specific protein)|mint:Q05682|reactome:R-HSA-445355 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fvHmtqnSPixs/3150s7LOA1Bvpw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KT73 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26961988|ensembl:ENSP00000462837 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3kt73_human(display_long)|uniprotkb:RPL38(gene name)|psi-mi:RPL38(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000172809(gene)|ensembl:ENST00000534490(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR002675(Ribosomal protein L38e)|interpro:IPR038464 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:CN9dHx7lkNFs079hgSz/plPOHA89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96N67 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2433703|uniprotkb:Q00M63|uniprotkb:Q2PPY7|uniprotkb:Q45RE8|uniprotkb:Q45RE9|uniprotkb:Q5T1B9|uniprotkb:Q5T1C0|uniprotkb:Q6ZV32|uniprotkb:Q8TB82|uniprotkb:Q96NG6|uniprotkb:Q9C092|intact:EBI-7303260|intact:MINT-1683616|uniprotkb:Q96NI0|intact:EBI-28980506|ensembl:ENSP00000489124 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011540628.1|refseq:NP_001258931.1|refseq:NP_212132.2|ensembl:ENST00000251157|ensembl:ENSP00000251157|ensembl:ENST00000340370|ensembl:ENSP00000340742|ensembl:ENST00000404627|ensembl:ENSP00000384446|ensembl:ENST00000454575|ensembl:ENSP00000413583|ensembl:ENST00000634264|ensembl:ENSP00000489284|ensembl:ENST00000635123|ensembl:ENSP00000489499|ensembl:ENSP00000489124|refseq:NP_001258928.1|refseq:NP_001258929.1|refseq:NP_001258930.1|refseq:NP_001317543.1|ensembl:ENSG00000116641(gene)|ensembl:ENST00000635253(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005925"(focal adhesion)|go:"GO:0007264"(small GTPase mediated signal transduction)|go:"GO:0007409"(axonogenesis)|go:"GO:0022027"(interkinetic nuclear migration)|go:"GO:0030424"(axon)|go:"GO:0030426"(growth cone)|go:"GO:0031175"(neuron projection development)|go:"GO:0031267"(small GTPase binding)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0043005"(neuron projection)|go:"GO:0045178"(basal part of cell)|go:"GO:0045200"(establishment of neuroblast polarity)|go:"GO:0050767"(regulation of neurogenesis)|go:"GO:0090630"(activation of GTPase activity)|go:"GO:0120163"(negative regulation of cold-induced thermogenesis)|go:"GO:1904754"(positive regulation of vascular associated smooth muscle cell migration)|interpro:IPR010703(Dedicator of cytokinesis)|interpro:IPR021816|interpro:IPR026791|interpro:IPR027007|interpro:IPR027357|interpro:IPR035892|interpro:IPR037808|interpro:IPR043161|interpro:IPR043162|mint:Q96N67|rcsb pdb:6AJ4|rcsb pdb:6AJL|reactome:R-HSA-8875555|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-983231 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:G5EA42 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043954|ensembl:ENSP00000437743 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:g5ea42_human(display_long)|uniprotkb:TMOD2(gene name)|psi-mi:TMOD2(display_short)|uniprotkb:hCG_1641013(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000128872(gene)|ensembl:ENST00000539962(transcript)|go:"GO:0005523"(tropomyosin binding)|go:"GO:0005856"(cytoskeleton)|go:"GO:0051694"(pointed-end actin filament capping)|interpro:IPR004934(Tropomodulin)|interpro:IPR030130|interpro:IPR032675 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3g8ht0Mt8pdmzFFEaK9O37v2jcc9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:K7ELC7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26519491|ensembl:ENSP00000466019 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k7elc7_human(display_long)|uniprotkb:RPL27(gene name)|psi-mi:RPL27(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000131469(gene)|ensembl:ENST00000586277(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001141(Ribosomal protein L27e)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR018262|interpro:IPR038655|interpro:IPR041991 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:sY/e/2jPIUJK12kkFbmdm5zxboY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BUF5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356735|uniprotkb:Q9HA42|ensembl:ENSP00000318697|uniprotkb:B3KM76 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb6_human(display_long)|uniprotkb:TUBB6(gene name)|psi-mi:TUBB6(display_short)|uniprotkb:Tubulin beta class V(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000176014(gene)|ensembl:ENST00000317702(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|refseq:NP_115914.1|interpro:IPR036525|interpro:IPR037103|mint:Q9BUF5|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|refseq:NP_001290453.1|refseq:NP_001290454.1|refseq:NP_001290455.1|refseq:NP_001290456.1|refseq:NP_001290457.1|refseq:NP_001290458.1|refseq:NP_001290459.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/IC9o8wSAOu+lNgq44Qqu5hEof49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96MY1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6660790|ensembl:ENSP00000352704|uniprotkb:Q9NQF6|uniprotkb:Q9BR34|uniprotkb:Q6P0Y4|uniprotkb:Q5JYB7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nol4l_human(display_long)|uniprotkb:NOL4L(gene name)|psi-mi:NOL4L(display_short)|uniprotkb:C20orf112(gene name synonym)|uniprotkb:C20orf113(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_016883158.1|ensembl:ENSG00000197183(gene)|ensembl:ENST00000359676(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|interpro:IPR026746|interpro:IPR039788|refseq:NP_001243727.1|refseq:NP_542183.2|refseq:XP_005260345.1|refseq:XP_005260346.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:r1tkeJjKBiM9H7BO/1RzYKi5fvA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46776 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350581|uniprotkb:B2R4B3|ensembl:ENSP00000346015 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl27a_human(display_long)|uniprotkb:RPL27A(gene name)|psi-mi:RPL27A(display_short)|uniprotkb:Large ribosomal subunit protein uL15(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000981.1|ensembl:ENSG00000166441(gene)|ensembl:ENST00000314138(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|interpro:IPR001196(Ribosomal protein L15)|interpro:IPR021131|interpro:IPR027386|interpro:IPR030878|interpro:IPR036227|mint:P46776|rcsb pdb:4BXF|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-72706|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6IP6|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6OM7|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|rcsb pdb:6IP5|dip:DIP-33121N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:tUezMQBw+SWmLYq8M0pkLCF8vO89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y2D5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1754555|uniprotkb:Q9UG26|uniprotkb:B1ALX9|uniprotkb:B2RTU4|uniprotkb:B3KQ00|uniprotkb:B4DTZ2|uniprotkb:B7ZW07|uniprotkb:B9EJB5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:akap2_human(display_long)|uniprotkb:AKAP2(gene name)|psi-mi:AKAP2(display_short)|uniprotkb:KIAA0920(gene name synonym)|uniprotkb:Protein kinase A-anchoring protein 2(gene name synonym)|uniprotkb:AKAP-KL(gene name synonym)|uniprotkb:PRKA2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001004065.2|refseq:NP_001130034.1|refseq:NP_001185585.1|refseq:NP_009134.1|refseq:NP_671492.1|interpro:IPR029304 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:xfHb6tD0ToXJPHpl4MlbKczjzSg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62266 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353072|ensembl:ENSP00000296674|ensembl:ENSP00000498621|uniprotkb:P39028|uniprotkb:Q6IB08 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs23_human(display_long)|uniprotkb:RPS23(gene name)|psi-mi:RPS23(display_short)|uniprotkb:Small ribosomal subunit protein uS12(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|ensembl:ENSG00000186468(gene)|ensembl:ENST00000296674(transcript)|ensembl:ENST00000651545(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0034063"(stress granule assembly)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045202"(synapse)|go:"GO:1990145"(maintenance of translational fidelity)|interpro:IPR005680(Ribosomal protein S23, eukaryotic/archaeal)|interpro:IPR006032(Ribosomal protein S12/S23)|rcsb pdb:5T2C|rcsb pdb:5VYC|interpro:IPR012340(Nucleic acid-binding, OB-fold)|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|mint:P62266|rcsb pdb:6G4W|rcsb pdb:4CXG|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:4CXH|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:4UG0|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|refseq:NP_001016.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:MWZPvSL/G45ocaxA5AXKCkDQxNU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61160 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353580|ensembl:ENSP00000260641|uniprotkb:O15142|uniprotkb:Q96C82|uniprotkb:B2RCP5|uniprotkb:D6W5F4|uniprotkb:E9PF41 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arp2_human(display_long)|uniprotkb:ACTR2(gene name)|psi-mi:ACTR2(display_short)|uniprotkb:ARP2(gene name synonym)|uniprotkb:Actin-like protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138071(gene)|ensembl:ENST00000260641(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0007163"(establishment or maintenance of cell polarity)|go:"GO:0008306"(associative learning)|go:"GO:0008356"(asymmetric cell division)|go:"GO:0010592"(positive regulation of lamellipodium assembly)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016344"(meiotic chromosome movement towards spindle pole)|go:"GO:0016482"(cytosolic transport)|go:"GO:0030027"(lamellipodium)|go:"GO:0030478"(actin cap)|go:"GO:0033206"(meiotic cytokinesis)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0035861"(site of double-strand break)|go:"GO:0035902"(response to immobilization stress)|go:"GO:0035984"(cellular response to trichostatin A)|go:"GO:0045471"(response to ethanol)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0051653"(spindle localization)|go:"GO:0060271"(cilium assembly)|go:"GO:0061003"(positive regulation of dendritic spine morphogenesis)|go:"GO:0061825"(podosome core)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:1904813"(ficolin-1-rich granule lumen)|refseq:NP_001005386.1|refseq:NP_005713.1|go:"GO:1905168"(positive regulation of double-strand break repair via homologous recombination)|interpro:IPR004000(Actin/actin-like)|interpro:IPR020902|interpro:IPR043129|mint:P61160|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-6798695|reactome:R-HSA-8856828|reactome:R-HSA-9664422|dip:DIP-33165N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:URQsZpIsMtsFZAnpLYDDvgKcPqA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9ULV4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351384|uniprotkb:Q9NSK5|uniprotkb:B3KU12|ensembl:ENSP00000261401|ensembl:ENSP00000438341|intact:EBI-4404698|uniprotkb:A7MAP0|uniprotkb:A7MAP1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cor1c_human(display_long)|uniprotkb:CORO1C(gene name)|psi-mi:CORO1C(display_short)|uniprotkb:CRNN4(gene name synonym)|uniprotkb:Coronin-3(gene name synonym)|uniprotkb:hCRNN4(gene name synonym)|uniprotkb:CRN2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001263400.1|refseq:NP_055140.1|ensembl:ENSG00000110880(gene)|ensembl:ENST00000261401(transcript)|ensembl:ENST00000541050(transcript)|go:"GO:0001755"(neural crest cell migration)|go:"GO:0001932"(regulation of protein phosphorylation)|go:"GO:0001933"(negative regulation of protein phosphorylation)|go:"GO:0005925"(focal adhesion)|go:"GO:0005938"(cell cortex)|go:"GO:0006909"(phagocytosis)|go:"GO:0007015"(actin filament organization)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0010632"(regulation of epithelial cell migration)|go:"GO:0010633"(negative regulation of epithelial cell migration)|go:"GO:0030017"(sarcomere)|go:"GO:0030027"(lamellipodium)|go:"GO:0031267"(small GTPase binding)|go:"GO:0032587"(ruffle membrane)|go:"GO:0042383"(sarcolemma)|go:"GO:0044387"(negative regulation of protein kinase activity by regulation of protein phosphorylation)|go:"GO:0045184"(establishment of protein localization)|go:"GO:0045202"(synapse)|go:"GO:0051015"(actin filament binding)|go:"GO:0051893"(regulation of focal adhesion assembly)|go:"GO:0010762"(regulation of fibroblast migration)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0051895"(negative regulation of focal adhesion assembly)|go:"GO:0090148"(membrane fission)|go:"GO:0090630"(activation of GTPase activity)|go:"GO:0016197"(endosomal transport)|go:"GO:0097750"(endosome membrane tubulation)|go:"GO:0140285"(endosome fission)|go:"GO:1900024"(regulation of substrate adhesion-dependent cell spreading)|go:"GO:1900025"(negative regulation of substrate adhesion-dependent cell spreading)|go:"GO:1900027"(regulation of ruffle assembly)|go:"GO:2000394"(positive regulation of lamellipodium morphogenesis)|interpro:IPR001680(WD40 repeat)|interpro:IPR015048(Region of unknown function DUF1899)|interpro:IPR015505(Coronin)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR027333|interpro:IPR036322|mint:Q9ULV4|go:"GO:0016328"(lateral plasma membrane)|go:"GO:0016477"(cell migration)|go:"GO:0016600"(flotillin complex)|refseq:NP_001098707.1|refseq:XP_016874610.1|refseq:XP_016874611.1|refseq:XP_016874612.1|dip:DIP-33138N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Em/LQxjBk9n4tobk5ksyDfFSyeU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P55072 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355164|uniprotkb:Q969G7|uniprotkb:Q9UCD5|uniprotkb:B2R5T8|uniprotkb:Q0V924|uniprotkb:Q2TAI5|intact:EBI-1046421|ensembl:ENSP00000351777 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tera_human(display_long)|uniprotkb:VCP(gene name)|psi-mi:VCP(display_short)|uniprotkb:"15S Mg(2+)-ATPase p97 subunit"(gene name synonym)|uniprotkb:Valosin-containing protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_009057.1|rcsb pdb:7BPA|rcsb pdb:7BPB|rcsb pdb:7JY5|reactome:R-HSA-110320|reactome:R-HSA-3371511|reactome:R-HSA-382556|reactome:R-HSA-532668|reactome:R-HSA-5358346|reactome:R-HSA-5362768|reactome:R-HSA-5678895|reactome:R-HSA-5689877|reactome:R-HSA-5689896|reactome:R-HSA-6798695|reactome:R-HSA-8866654|reactome:R-HSA-8876725|reactome:R-HSA-9013407|reactome:R-HSA-9646399|reactome:R-HSA-9678110|reactome:R-HSA-9694614|rcsb pdb:7BP9|go:"GO:0032510"(endosome to lysosome transport via multivesicular body sorting pathway)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034098"(VCP-NPL4-UFD1 AAA ATPase complex)|go:"GO:0034605"(cellular response to heat)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0035617"(stress granule disassembly)|go:"GO:0035800"(deubiquitinase activator activity)|go:"GO:0035861"(site of double-strand break)|go:"GO:0036297"(interstrand cross-link repair)|go:"GO:0036435"(K48-linked polyubiquitin modification-dependent protein binding)|go:"GO:0036503"(ERAD pathway)|go:"GO:0036513"(Derlin-1 retrotranslocation complex)|go:"GO:0042288"(MHC class I protein binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043161"(proteasome-mediated ubiquitin-dependent protein catabolic process)|go:"GO:0032436"(positive regulation of proteasomal ubiquitin-dependent protein catabolic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043531"(ADP binding)|go:"GO:0044389"(ubiquitin-like protein ligase binding)|go:"GO:0045184"(establishment of protein localization)|go:"GO:0045732"(positive regulation of protein catabolic process)|go:"GO:0045879"(negative regulation of smoothened signaling pathway)|go:"GO:0046034"(ATP metabolic process)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050807"(regulation of synapse organization)|go:"GO:0051228"(mitotic spindle disassembly)|go:"GO:0061857"(endoplasmic reticulum stress-induced pre-emptive quality control)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070842"(aggresome assembly)|go:"GO:0071712"(ER-associated misfolded protein catabolic process)|go:"GO:0072389"(flavin adenine dinucleotide catabolic process)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0097352"(autophagosome maturation)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0106300"(protein-DNA covalent cross-linking repair)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1903006"(positive regulation of protein K63-linked deubiquitination)|go:"GO:1903007"(positive regulation of Lys63-specific deubiquitinase activity)|go:"GO:1903715"(regulation of aerobic respiration)|go:"GO:1903843"(cellular response to arsenite ion)|go:"GO:1903862"(positive regulation of oxidative phosphorylation)|go:"GO:1904288"(BAT3 complex binding)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1904949"(ATPase complex)|go:"GO:1905634"(regulation of protein localization to chromatin)|go:"GO:1990381"(ubiquitin-specific protease binding)|go:"GO:1990730"(VCP-NSFL1C complex)|go:"GO:2001171"(positive regulation of ATP biosynthetic process)|interpro:IPR003338(AAA ATPase VAT, N-terminal)|interpro:IPR003593(AAA+ ATPase, core)|ensembl:ENSG00000165280(gene)|ensembl:ENST00000358901(transcript)|go:"GO:0000502"(proteasome complex)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005811"(lipid droplet)|go:"GO:0005829"(cytosol)|go:"GO:0006281"(DNA repair)|go:"GO:0006302"(double-strand break repair)|go:"GO:0006734"(NADH metabolic process)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0006919"(activation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0008289"(lipid binding)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0010498"(proteasomal protein catabolic process)|go:"GO:0010918"(positive regulation of mitochondrial membrane potential)|go:"GO:0016236"(macroautophagy)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0019079"(viral genome replication)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0019985"(translesion synthesis)|go:"GO:0030433"(ubiquitin-dependent ERAD pathway)|go:"GO:0030968"(endoplasmic reticulum unfolded protein response)|go:"GO:0030970"(retrograde protein transport, ER to cytosol)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0031593"(polyubiquitin modification-dependent protein binding)|go:"GO:0031625"(ubiquitin protein ligase binding)|interpro:IPR003959(AAA ATPase, core)|interpro:IPR003960(AAA ATPase, conserved site)|interpro:IPR004201(Cell division protein 48, CDC48, domain 2)|interpro:IPR005938(AAA ATPase, CDC48)|interpro:IPR009010(Aspartate decarboxylase-like fold)|interpro:IPR015415(Vps4 oligomerisation, C-terminal)|interpro:IPR027417|interpro:IPR029067|interpro:IPR041569|mint:P55072|rcsb pdb:3EBB|rcsb pdb:3HU1|rcsb pdb:3HU2|rcsb pdb:3HU3|rcsb pdb:3QC8|rcsb pdb:3QQ7|rcsb pdb:3QQ8|rcsb pdb:3QWZ|rcsb pdb:3TIW|rcsb pdb:4KDI|rcsb pdb:4KDL|rcsb pdb:4KLN|rcsb pdb:4KO8|rcsb pdb:4KOD|rcsb pdb:4P0A|rcsb pdb:5B6C|rcsb pdb:5C18|rcsb pdb:5C19|rcsb pdb:5C1A|rcsb pdb:5C1B|rcsb pdb:5DYG|rcsb pdb:5DYI|rcsb pdb:5EPP|rcsb pdb:5FTJ|rcsb pdb:5FTK|rcsb pdb:5FTL|rcsb pdb:5FTM|rcsb pdb:5FTN|rcsb pdb:5GLF|rcsb pdb:5IFS|rcsb pdb:5IFW|rcsb pdb:5KIW|rcsb pdb:5KIY|rcsb pdb:5X4L|rcsb pdb:6G2V|rcsb pdb:6G2W|rcsb pdb:6G2X|rcsb pdb:6G2Y|rcsb pdb:6G2Z|rcsb pdb:6G30|rcsb pdb:6HD0|rcsb pdb:6MCK|rcsb pdb:7BP8|dip:DIP-33543N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HrjDhdsDcgaf8HEbqqMjUqxPaEs9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61978 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-304185|intact:EBI-28971491|ensembl:ENSP00000317788|ensembl:ENSP00000353552|uniprotkb:Q07244|uniprotkb:Q15671|uniprotkb:Q59F98|uniprotkb:Q60577|uniprotkb:Q922Y7|uniprotkb:Q96J62|uniprotkb:Q5T6W4|intact:EBI-3440248|uniprotkb:Q6IBN1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hnrpk_human(display_long)|uniprotkb:HNRNPK(gene name)|psi-mi:HNRNPK(display_short)|uniprotkb:HNRPK(gene name synonym)|uniprotkb:Transformation up-regulated nuclear protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000165119(gene)|go:"GO:0010988"(regulation of low-density lipoprotein particle clearance)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0042802"(identical protein binding)|ensembl:ENST00000351839(transcript)|ensembl:ENST00000360384(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0000785"(chromatin)|go:"GO:0002102"(podosome)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005925"(focal adhesion)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006396"(RNA processing)|go:"GO:0007165"(signal transduction)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0042995"(cell projection)|go:"GO:0045296"(cadherin binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048024"(regulation of mRNA splicing, via spliceosome)|go:"GO:0048025"(negative regulation of mRNA splicing, via spliceosome)|go:"GO:0048260"(positive regulation of receptor-mediated endocytosis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1902165"(regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator)|go:"GO:1905599"(positive regulation of low-density lipoprotein receptor activity)|interpro:IPR004087(K Homology)|interpro:IPR004088(K Homology, type 1)|interpro:IPR012987(ROK, N-terminal)|interpro:IPR033090|interpro:IPR036612|mint:P61978|rcsb pdb:1J5K|rcsb pdb:1KHM|rcsb pdb:1ZZI|rcsb pdb:1ZZJ|go:"GO:0043066"(negative regulation of apoptotic process)|reactome:R-HSA-4570464|reactome:R-HSA-72163|reactome:R-HSA-72203|reactome:R-HSA-9610379|rcsb pdb:1ZZK|refseq:NP_002131.2|refseq:NP_112552.1|refseq:NP_112553.1|ensembl:ENSP00000317788|ensembl:ENSP00000353552|ensembl:ENST00000376263|ensembl:ENSP00000365439|ensembl:ENST00000376281|ensembl:ENSP00000365458|refseq:NP_001305115.1|refseq:NP_001305116.1|refseq:NP_001305117.1|refseq:XP_016870157.1|refseq:XP_005252017.1|refseq:XP_005252020.1|refseq:XP_005252022.1|dip:DIP-31805N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YZQD5JJkHPUMtZ4XUA9fQkNfXzc9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P19474 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-81290|uniprotkb:Q96RF8|uniprotkb:Q5XPV5|ensembl:ENSP00000254436 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ro52_human(display_long)|uniprotkb:TRIM21(gene name)|psi-mi:TRIM21(display_short)|uniprotkb:RNF81(gene name synonym)|uniprotkb:Sjoegren syndrome type A antigen(gene name synonym)|uniprotkb:"Ro(SS-A)"(gene name synonym)|uniprotkb:52 kDa ribonucleoprotein autoantigen Ro/SS-A(gene name synonym)|uniprotkb:Tripartite motif-containing protein 21(gene name synonym)|uniprotkb:RING finger protein 81(gene name synonym)|uniprotkb:52 kDa Ro protein(gene name synonym)|uniprotkb:RO52(gene name synonym)|uniprotkb:SSA1(gene name synonym)|uniprotkb:RING-type E3 ubiquitin transferase TRIM21(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003132.2|go:"GO:0019901"(protein kinase binding)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031648"(protein destabilization)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0032092"(positive regulation of protein binding)|go:"GO:0032479"(regulation of type I interferon production)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0032897"(negative regulation of viral transcription)|go:"GO:0034341"(response to interferon-gamma)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0045087"(innate immune response)|go:"GO:0045787"(positive regulation of cell cycle)|go:"GO:0045824"(negative regulation of innate immune response)|go:"GO:0046596"(regulation of viral entry into host cell)|go:"GO:0046598"(positive regulation of viral entry into host cell)|go:"GO:0051091"(positive regulation of DNA-binding transcription factor activity)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051865"(protein autoubiquitination)|go:"GO:0061630"(ubiquitin protein ligase activity)|go:"GO:0070534"(protein K63-linked ubiquitination)|go:"GO:0090086"(negative regulation of protein deubiquitination)|ensembl:ENSG00000132109(gene)|ensembl:ENST00000254436(transcript)|go:"GO:0000209"(protein polyubiquitination)|go:"GO:0000932"(P-body)|go:"GO:0003677"(DNA binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0004842"(ubiquitin-protein transferase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005776"(autophagosome)|go:"GO:0005829"(cytosol)|go:"GO:0006513"(protein monoubiquitination)|go:"GO:0007049"(cell cycle)|go:"GO:0008270"(zinc ion binding)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0010508"(positive regulation of autophagy)|go:"GO:0016567"(protein ubiquitination)|interpro:IPR006574(SPRY-associated)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR017907|interpro:IPR020457|interpro:IPR035831|interpro:IPR043136|mint:P19474|rcsb pdb:2IWG|rcsb pdb:5JPX|rcsb pdb:5OLM|rcsb pdb:6FGA|rcsb pdb:6S53|rcsb pdb:7BBD|reactome:R-HSA-1834941|reactome:R-HSA-3134975|reactome:R-HSA-877300|reactome:R-HSA-983168|go:"GO:1902187"|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000315(Zinc finger, B-box)|interpro:IPR001841(Zinc finger, RING-type)|interpro:IPR001870("B302 (SPRY)-like")|interpro:IPR003613(U box)|interpro:IPR003877(SPla/RYanodine receptor SPRY)|interpro:IPR003879(Butyrophylin-like) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/9rpwdudXQWv8z8JLmRecXf3YQM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P12236 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356254|ensembl:ENSP00000370808|uniprotkb:Q96C49 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:adt3_human(display_long)|uniprotkb:SLC25A6(gene name)|psi-mi:SLC25A6(display_short)|uniprotkb:ANT3(gene name synonym)|uniprotkb:CDABP0051(orf name)|uniprotkb:Adenine nucleotide translocator 3(gene name synonym)|uniprotkb:ADP,ATP carrier protein 3(gene name synonym)|uniprotkb:Solute carrier family 25 member 6(gene name synonym)|uniprotkb:ADP,ATP carrier protein, isoform T2(gene name synonym)|uniprotkb:AAC3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000169100(gene)|ensembl:ENST00000381401(transcript)|go:"GO:0005471"("ATP:ADP antiporter activity")|go:"GO:0005634"(nucleus)|go:"GO:0005739"(mitochondrion)|go:"GO:0005743"(mitochondrial inner membrane)|go:"GO:0005744"(TIM23 mitochondrial import inner membrane translocase complex)|go:"GO:0006915"(apoptotic process)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0140021"(mitochondrial ADP transmembrane transport)|go:"GO:1990544"(mitochondrial ATP transmembrane transport)|interpro:IPR002067(Mitochondrial carrier protein)|interpro:IPR002113(Adenine nucleotide translocator 1)|interpro:IPR018108|interpro:IPR023395|mint:P12236|reactome:R-HSA-1268020|reactome:R-HSA-168277|reactome:R-HSA-180897|reactome:R-HSA-83936|refseq:NP_001627.2 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:K5zi7otVqbL4Z4NHyHB1nojLOTg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11387 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-876302|ensembl:ENSP00000354522|uniprotkb:Q15610|uniprotkb:Q5TFY3|uniprotkb:Q9UJN0|uniprotkb:O43256|uniprotkb:Q12855|uniprotkb:Q12856|uniprotkb:A8KA78|uniprotkb:E1P5W3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:top1_human(display_long)|uniprotkb:DNA topoisomerase I(gene name synonym)|uniprotkb:TOP1(gene name)|psi-mi:TOP1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000198900(gene)|ensembl:ENST00000361337(transcript)|go:"GO:0000932"(P-body)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0001650"(fibrillar center)|go:"GO:0003677"(DNA binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003690"(double-stranded DNA binding)|go:"GO:0003697"(single-stranded DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003917"("DNA topoisomerase type I (single strand cut, ATP-independent) activity")|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0006260"(DNA replication)|go:"GO:0006265"(DNA topological change)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0007059"(chromosome segregation)|go:"GO:0007623"(circadian rhythm)|go:"GO:0012501"(programmed cell death)|go:"GO:0016310"(phosphorylation)|go:"GO:0018105"(peptidyl-serine phosphorylation)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0032922"(circadian regulation of gene expression)|refseq:NP_003277.1|dip:DIP-36356N|go:"GO:0032993"(protein-DNA complex)|go:"GO:0040016"(embryonic cleavage)|go:"GO:0042493"|go:"GO:0043204"(perikaryon)|go:"GO:0097100"(supercoiled DNA binding)|interpro:IPR001631(DNA topoisomerase I, C-terminal)|interpro:IPR008336(DNA topoisomerase I, DNA binding, eukaryotic-type)|interpro:IPR011010(DNA breaking-rejoining enzyme, catalytic core)|interpro:IPR013030(DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type)|interpro:IPR013034(DNA topoisomerase I, DNA binding, alpha helical motif, eukaryotic-type)|interpro:IPR013499(DNA topoisomerase I, C-terminal, eukaryotic-type)|interpro:IPR013500(DNA topoisomerase I, catalytic core, eukaryotic-type)|interpro:IPR014711(DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type)|interpro:IPR014727(DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type)|interpro:IPR018521|interpro:IPR025834|interpro:IPR036202|mint:P11387|rcsb pdb:1A31|rcsb pdb:1A35|rcsb pdb:1A36|rcsb pdb:1EJ9|rcsb pdb:1K4S|rcsb pdb:1K4T|rcsb pdb:1LPQ|rcsb pdb:1NH3|rcsb pdb:1R49|rcsb pdb:1RR8|rcsb pdb:1RRJ|rcsb pdb:1SC7|rcsb pdb:1SEU|rcsb pdb:1T8I|rcsb pdb:1TL8|reactome:R-HSA-4615885 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kB+3PVybgNp2mtOmDa7x8sygFuU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11166 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-717153|uniprotkb:A8K9S6|uniprotkb:O75535|uniprotkb:Q147X2|uniprotkb:B2R620|uniprotkb:D3DPX0|uniprotkb:Q0P512|ensembl:ENSP00000416293 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gtr1_human(display_long)|uniprotkb:Glucose transporter type 1, erythrocyte/brain(gene name synonym)|uniprotkb:HepG2 glucose transporter(gene name synonym)|uniprotkb:SLC2A1(gene name)|psi-mi:SLC2A1(display_short)|uniprotkb:GLUT1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006507.2|ensembl:ENSG00000117394(gene)|ensembl:ENST00000426263(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001666"(response to hypoxia)|go:"GO:0001917"(photoreceptor inner segment)|go:"GO:0001939"(female pronucleus)|go:"GO:0005324"(long-chain fatty acid transporter activity)|go:"GO:0005355"(glucose transmembrane transporter activity)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005901"(caveola)|go:"GO:0007417"(central nervous system development)|go:"GO:0007565"(female pregnancy)|go:"GO:0014704"(intercalated disc)|go:"GO:0015911"(long-chain fatty acid import across plasma membrane)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0019852"(L-ascorbic acid metabolic process)|go:"GO:0019900"(kinase binding)|go:"GO:0021987"(cerebral cortex development)|go:"GO:0030018"(Z disc)|go:"GO:0030496"(midbody)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0032868"(response to insulin)|go:"GO:0033300"(dehydroascorbic acid transmembrane transporter activity)|go:"GO:0042149"(cellular response to glucose starvation)|go:"GO:0042383"(sarcolemma)|go:"GO:0042470"(melanosome)|go:"GO:0042802"(identical protein binding)|go:"GO:0042910"(xenobiotic transmembrane transporter activity)|go:"GO:0043621"(protein self-association)|go:"GO:0045494"(photoreceptor cell maintenance)|go:"GO:0055056"(D-glucose transmembrane transporter activity)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071474"(cellular hyperosmotic response)|go:"GO:0072562"(blood microparticle)|go:"GO:0098708"(glucose import across plasma membrane)|go:"GO:0098793"(presynapse)|go:"GO:0150104"(transport across blood-brain barrier)|go:"GO:1904016"(response to Thyroglobulin triiodothyronine)|go:"GO:1904659"(glucose transmembrane transport)|interpro:IPR002439("Glucose transporter, type 1 (GLUT1)")|interpro:IPR003663(Sugar transporter)|interpro:IPR005828(General substrate transporter)|interpro:IPR005829(Sugar transporter, conserved site)|interpro:IPR020846|interpro:IPR036259|mint:P11166|rcsb pdb:1SUK|rcsb pdb:4PYP|rcsb pdb:5EQG|rcsb pdb:5EQH|rcsb pdb:5EQI|rcsb pdb:6THA|reactome:R-HSA-189200|reactome:R-HSA-196836|reactome:R-HSA-422356|reactome:R-HSA-5619043|reactome:R-HSA-5653890|dip:DIP-23N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:72DLUG1CFkqcf92goIZBZ4+zuls9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q71U36 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-302552|uniprotkb:P04687|uniprotkb:P05209|uniprotkb:A8K0B8|uniprotkb:G3V1U9|intact:EBI-10989786|ensembl:ENSP00000301071|ensembl:ENSP00000439020 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tba1a_human(display_long)|uniprotkb:TUBA1A(gene name)|psi-mi:TUBA1A(display_short)|uniprotkb:Tubulin B-alpha-1(gene name synonym)|uniprotkb:Tubulin alpha-3 chain(gene name synonym)|uniprotkb:Alpha-tubulin 3(gene name synonym)|uniprotkb:TUBA3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006000.2|refseq:NP_001257328.1|refseq:NP_001257329.1|dip:DIP-32773N|ensembl:ENSG00000167552(gene)|ensembl:ENST00000295766(transcript)|ensembl:ENST00000301071(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005874"(microtubule)|go:"GO:0005881"(cytoplasmic microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030705"(cytoskeleton-dependent intracellular transport)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042802"(identical protein binding)|go:"GO:0043209"(myelin sheath)|go:"GO:0045121"(membrane raft)|go:"GO:0050807"(regulation of synapse organization)|go:"GO:0051301"(cell division)|go:"GO:0055037"(recycling endosome)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002452(Alpha tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:Q71U36|rcsb pdb:5JCO|rcsb pdb:6J8F|rcsb pdb:6WSL|rcsb pdb:7C1M|reactome:R-HSA-1445148|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-2565942|reactome:R-HSA-3371497|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620912|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8854518|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:1CzEzrf5y8hrQRPKgWQS1Wm1aCY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q00610 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354967|intact:EBI-28974011|ensembl:ENSP00000269122|uniprotkb:Q6N0A0|uniprotkb:Q86TF2|uniprotkb:D3DU00 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:clh1_human(display_long)|uniprotkb:Clathrin heavy chain on chromosome 17(gene name synonym)|uniprotkb:CLTC(gene name)|psi-mi:CLTC(display_short)|uniprotkb:CLH17(gene name synonym)|uniprotkb:KIAA0034(gene name synonym)|uniprotkb:CLTCL2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000141367(gene)|ensembl:ENST00000269122(transcript)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005819"(spindle)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0006914"(autophagy)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0050750"(low-density lipoprotein particle receptor binding)|go:"GO:0030118"(clathrin coat)|go:"GO:0030130"(clathrin coat of trans-Golgi network vesicle)|go:"GO:0051301"(cell division)|go:"GO:0060236"(regulation of mitotic spindle organization)|go:"GO:0030132"(clathrin coat of coated pit)|go:"GO:0030136"(clathrin-coated vesicle)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0070062"(extracellular exosome)|go:"GO:0031623"(receptor internalization)|go:"GO:0032051"(clathrin light chain binding)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033572"(transferrin transport)|go:"GO:0036020"(endolysosome membrane)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045334"(clathrin-coated endocytic vesicle)|go:"GO:0048268"(clathrin coat assembly)|refseq:NP_004850.1|ensembl:ENSP00000269122|ensembl:ENST00000393043|ensembl:ENSP00000376763|go:"GO:0071439"(clathrin complex)|go:"GO:0072583"(clathrin-dependent endocytosis)|go:"GO:0072686"(mitotic spindle)|go:"GO:0097718"(disordered domain specific binding)|go:"GO:0150093"(amyloid-beta clearance by transcytosis)|go:"GO:1900126"(negative regulation of hyaluronan biosynthetic process)|go:"GO:1903077"(negative regulation of protein localization to plasma membrane)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1990381"(ubiquitin-specific protease binding)|go:"GO:1990498"(mitotic spindle microtubule)|interpro:IPR000547(Clathrin, heavy chain/VPS, 7-fold repeat)|interpro:IPR011990(Tetratricopeptide-like helical)|interpro:IPR015348(Clathrin, heavy chain, linker, core motif)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR016025(Clathrin, heavy chain, linker and propeller)|interpro:IPR016341(Clathrin, heavy chain)|interpro:IPR022365|mint:Q00610|rcsb pdb:2XZG|rcsb pdb:4G55|rcsb pdb:6E4L|rcsb pdb:6QNN|rcsb pdb:6QNP|reactome:R-HSA-168275|reactome:R-HSA-177504|reactome:R-HSA-190873|reactome:R-HSA-196025|reactome:R-HSA-2132295|reactome:R-HSA-3928665|reactome:R-HSA-432720|reactome:R-HSA-432722|reactome:R-HSA-437239|reactome:R-HSA-5099900|reactome:R-HSA-5140745|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8866427|reactome:R-HSA-8964038|reactome:R-HSA-9013420|reactome:R-HSA-9013424 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:oGsLXL5J5MHO+ronpDIG9hJ11sU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y2W1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352039|uniprotkb:Q5VTK6|uniprotkb:D3DPS5|ensembl:ENSP00000346634|ensembl:ENSP00000433825 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tr150_human(display_long)|uniprotkb:BCLAF1 and THRAP3 family member 2(gene name synonym)|uniprotkb:BCLAF2(gene name synonym)|uniprotkb:THRAP3(gene name)|psi-mi:THRAP3(display_short)|uniprotkb:TRAP150(gene name synonym)|uniprotkb:Thyroid hormone receptor-associated protein complex 150 kDa component(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005110.2|ensembl:ENSG00000054118(gene)|ensembl:ENST00000354618(transcript)|ensembl:ENST00000469141(transcript)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000956"(nuclear-transcribed mRNA catabolic process)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0003677"(DNA binding)|go:"GO:0003712"(transcription coregulator activity)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006397"(mRNA processing)|go:"GO:0007623"(circadian rhythm)|go:"GO:0008380"(RNA splicing)|go:"GO:0016592"(mediator complex)|go:"GO:0016607"(nuclear speck)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0042753"(positive regulation of circadian rhythm)|go:"GO:0042809"(vitamin D receptor binding)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046966"(thyroid hormone receptor binding)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048255"(mRNA stabilization)|go:"GO:0051219"(phosphoprotein binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR026667|interpro:IPR029199|mint:Q9Y2W1|reactome:R-HSA-1989781|reactome:R-HSA-381340|refseq:NP_001308400.1|refseq:NP_001308402.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:pPyZVG1IXg/+QDpHngwzUX09cBM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P51149 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1056089|uniprotkb:A8K3V6|uniprotkb:Q9NWJ0|uniprotkb:Q9UPB0|ensembl:ENSP00000265062|ensembl:ENSP00000501618|ensembl:ENSP00000502000|ensembl:ENSP00000502088|ensembl:ENSP00000502486 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rab7a_human(display_long)|uniprotkb:RAB7A(gene name)|psi-mi:RAB7A(display_short)|uniprotkb:RAB7(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004628.4|ensembl:ENSG00000075785(gene)|ensembl:ENST00000265062(transcript)|ensembl:ENST00000674589(transcript)|ensembl:ENST00000675342(transcript)|ensembl:ENST00000675497(transcript)|ensembl:ENST00000676214(transcript)|go:"GO:0000045"(autophagosome assembly)|go:"GO:0000421"(autophagosome membrane)|go:"GO:0003924"(GTPase activity)|go:"GO:0003925"(G protein activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005770"(late endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006622"(protein targeting to lysosome)|go:"GO:0006897"(endocytosis)|go:"GO:0007174"(epidermal growth factor catabolic process)|go:"GO:0008333"(endosome to lysosome transport)|go:"GO:0010008"(endosome membrane)|go:"GO:0015031"(protein transport)|go:"GO:0016042"(lipid catabolic process)|go:"GO:0019003"(GDP binding)|go:"GO:0019076"(viral release from host cell)|go:"GO:0022615"(protein to membrane docking)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0032419"(extrinsic component of lysosome membrane)|go:"GO:0033162"(melanosome membrane)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0045022"(early endosome to late endosome transport)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045732"(positive regulation of protein catabolic process)|go:"GO:0048524"(positive regulation of viral process)|go:"GO:0061724"(lipophagy)|go:"GO:0070062"(extracellular exosome)|go:"GO:0090382"(phagosome maturation)|go:"GO:0090383"(phagosome acidification)|go:"GO:0090385"(phagosome-lysosome fusion)|go:"GO:0099638"(endosome to plasma membrane protein transport)|go:"GO:1902586"(obsolete multi-organism intercellular transport)|go:"GO:1903542"(negative regulation of exosomal secretion)|go:"GO:1903543"(positive regulation of exosomal secretion)|go:"GO:1905366"(negative regulation of intralumenal vesicle formation)|go:"GO:1905394"(retromer complex binding)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|mint:P51149|rcsb pdb:1T91|rcsb pdb:1YHN|rcsb pdb:6IYB|rcsb pdb:6WCW|reactome:R-HSA-2132295|reactome:R-HSA-6798695|reactome:R-HSA-8854214|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013405|reactome:R-HSA-9013406|reactome:R-HSA-9013407|reactome:R-HSA-9013408|reactome:R-HSA-9013409|reactome:R-HSA-9013423|reactome:R-HSA-9035034|reactome:R-HSA-9636383|reactome:R-HSA-9636569|rcsb pdb:3LAW|dip:DIP-39879N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:AJbKizzw4zCAn+roRF2Im1Tt4xE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O43166 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-310678|uniprotkb:O95321|uniprotkb:Q9UDU4|uniprotkb:Q9UNU4|intact:EBI-11025469|intact:EBI-28973250|uniprotkb:J3KP19|ensembl:ENSP00000450832 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:si1l1_human(display_long)|uniprotkb:SIPA1L1(gene name)|psi-mi:SIPA1L1(display_short)|uniprotkb:E6TP1(gene name synonym)|uniprotkb:KIAA0440(gene name synonym)|uniprotkb:High-risk human papilloma viruses E6 oncoproteins targeted protein 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000358550|ensembl:ENSP00000351352|ensembl:ENST00000381232|ensembl:ENSP00000370630|ensembl:ENSP00000450832|refseq:NP_001271174.1|refseq:NP_001271175.1|refseq:NP_056371.1|refseq:XP_005267573.1|refseq:XP_011534932.1|refseq:XP_011534933.1|refseq:XP_011534934.1|refseq:XP_011534937.1|refseq:XP_016876648.1|refseq:XP_016876649.1|refseq:XP_016876650.1|refseq:XP_016876651.1|refseq:XP_016876652.1|refseq:XP_016876653.1|refseq:XP_016876654.1|refseq:XP_016876655.1|refseq:XP_016876656.1|refseq:XP_016876657.1|refseq:XP_016876658.1|refseq:XP_016876659.1|refseq:XP_016876660.1|refseq:XP_016876661.1|refseq:XP_016876662.1|refseq:XP_016876663.1|refseq:XP_016876664.1|refseq:XP_016876665.1|refseq:XP_016876666.1|refseq:XP_016876667.1|refseq:XP_016876668.1|refseq:XP_016876669.1|refseq:XP_016876675.1|refseq:XP_016876676.1|refseq:XP_016876677.1|refseq:XP_016876678.1|refseq:XP_016876679.1|refseq:XP_016876680.1|refseq:XP_016876681.1|refseq:XP_016876682.1|ensembl:ENSG00000197555(gene)|ensembl:ENST00000555818(transcript)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0043087"(regulation of GTPase activity)|go:"GO:0043197"(dendritic spine)|go:"GO:0046875"(ephrin receptor binding)|go:"GO:0048013"(ephrin receptor signaling pathway)|go:"GO:0048167"(regulation of synaptic plasticity)|go:"GO:0048814"(regulation of dendrite morphogenesis)|go:"GO:0050770"(regulation of axonogenesis)|go:"GO:0051056"(regulation of small GTPase mediated signal transduction)|go:"GO:0061001"(regulation of dendritic spine morphogenesis)|go:"GO:0090630"(activation of GTPase activity)|interpro:IPR000331(Rap/ran-GAP)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR021818|interpro:IPR030770|interpro:IPR035974|interpro:IPR036034|mint:O43166|reactome:R-HSA-6794361 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:whpEjAhxfeYqeZ1IbjNl6romgXk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q12965 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-4279548|uniprotkb:Q14778|ensembl:ENSP00000288235 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myo1e_human(display_long)|uniprotkb:Myosin-Ic(gene name synonym)|uniprotkb:MYO1E(gene name)|psi-mi:MYO1E(display_short)|uniprotkb:MYO1C(gene name synonym)|uniprotkb:Unconventional myosin 1E(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004989.2|ensembl:ENSG00000157483(gene)|ensembl:ENST00000288235(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0001570"(vasculogenesis)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0003094"(glomerular filtration)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005902"(microvillus)|go:"GO:0005903"(brush border)|go:"GO:0005912"(adherens junction)|go:"GO:0006807"(nitrogen compound metabolic process)|go:"GO:0006897"(endocytosis)|go:"GO:0007015"(actin filament organization)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016459"(myosin complex)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030050"(vesicle transport along actin filament)|go:"GO:0030136"(clathrin-coated vesicle)|go:"GO:0031982"(vesicle)|go:"GO:0032836"(glomerular basement membrane development)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0035166"(post-embryonic hemopoiesis)|go:"GO:0048008"(platelet-derived growth factor receptor signaling pathway)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072015"(glomerular visceral epithelial cell development)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001452(Src homology-3)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR010926(Myosin tail 2)|interpro:IPR027417|interpro:IPR035507|interpro:IPR036028|interpro:IPR036072|interpro:IPR036961|mint:Q12965|ensembl:ENSP00000288235|dip:DIP-884N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:UyG3wKoRwL2Eaw9CM6561vld+PU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:G8JLB6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21357942|ensembl:ENSP00000327539 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:g8jlb6_human(display_long)|uniprotkb:HNRNPH1(gene name)|psi-mi:HNRNPH1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000169045(gene)|ensembl:ENST00000329433(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR012996(Zinc finger, CHHC-type)|interpro:IPR035979|refseq:XP_005265952.1|refseq:XP_005265953.1|refseq:XP_011532844.1|refseq:XP_011532846.1|refseq:XP_011532847.1|refseq:XP_011532848.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:SUyfrDnUyHSIh8tkTKJQSqp73Es9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75396 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1058865|ensembl:ENSP00000463393|uniprotkb:A8K1G0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sc22b_human(display_long)|uniprotkb:SEC22B(gene name)|psi-mi:SEC22B(display_short)|uniprotkb:SEC22L1(gene name synonym)|uniprotkb:SEC22 vesicle-trafficking protein homolog B(gene name synonym)|uniprotkb:SEC22 vesicle-trafficking protein-like 1(gene name synonym)|uniprotkb:ER-Golgi SNARE of 24 kDa(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000265808(gene)|ensembl:ENST00000578049(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005484"(SNAP receptor activity)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006890"(retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum)|go:"GO:0008021"(synaptic vesicle)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0015031"(protein transport)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019905"(syntaxin binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030137"(COPI-coated vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031201"(SNARE complex)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0042470"(melanosome)|go:"GO:0045732"(positive regulation of protein catabolic process)|go:"GO:0048280"(vesicle fusion with Golgi apparatus)|go:"GO:1902902"(negative regulation of autophagosome assembly)|interpro:IPR001388(Synaptobrevin)|interpro:IPR010908(Longin)|interpro:IPR011012(Longin-like)|interpro:IPR042855|interpro:IPR044565|mint:O75396|rcsb pdb:2NUP|rcsb pdb:2NUT|rcsb pdb:3EGD|rcsb pdb:3EGX|refseq:NP_004883.3|reactome:R-HSA-204005|reactome:R-HSA-5694530|reactome:R-HSA-6811434|reactome:R-HSA-1236974|dip:DIP-50458N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:DRKtD169T9eYZ2kFufLapidvcKs9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PB61 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6190851|ensembl:ENSP00000421592 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pb61_human(display_long)|uniprotkb:ALYREF(gene name)|psi-mi:ALYREF(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000183684(gene)|ensembl:ENST00000505490(transcript)|go:"GO:0003723"(RNA binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR025715|interpro:IPR035979|go:"GO:0016607"(nuclear speck)|refseq:NP_005773.3 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:1TYm+flGafmObpUMr0SV5tuEDR49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UKL0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-926563|uniprotkb:Q15044|uniprotkb:Q6P2I9|uniprotkb:Q86VG5|intact:EBI-11087913|uniprotkb:J3KN32|ensembl:ENSP00000262241 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rcor1_human(display_long)|uniprotkb:RCOR1(gene name)|psi-mi:RCOR1(display_short)|uniprotkb:KIAA0071(gene name synonym)|uniprotkb:RCOR(gene name synonym)|uniprotkb:Protein CoREST(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_055971.2|dip:DIP-35263N|ensembl:ENSG00000089902(gene)|ensembl:ENST00000262241(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016575"(histone deacetylation)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019899"(enzyme binding)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0045654"(positive regulation of megakaryocyte differentiation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:1990391"(DNA repair complex)|interpro:IPR000949(ELM2)|interpro:IPR001005(SANT, DNA-binding)|interpro:IPR009057(Homeodomain-like)|interpro:IPR017884|interpro:IPR017930|mint:Q9UKL0|rcsb pdb:2IW5|rcsb pdb:2UXN|rcsb pdb:2UXX|rcsb pdb:2V1D|rcsb pdb:2X0L|rcsb pdb:2XAF|rcsb pdb:2XAG|rcsb pdb:2XAH|rcsb pdb:2XAJ|rcsb pdb:2XAQ|rcsb pdb:2XAS|rcsb pdb:2Y48|rcsb pdb:3ZMS|rcsb pdb:3ZMT|rcsb pdb:3ZMU|rcsb pdb:3ZMV|rcsb pdb:3ZMZ|rcsb pdb:3ZN0|rcsb pdb:3ZN1|rcsb pdb:4BAY|rcsb pdb:4KUM|rcsb pdb:4UV8|rcsb pdb:4UV9|rcsb pdb:4UVA|rcsb pdb:4UVB|rcsb pdb:4UVC|rcsb pdb:4UXN|rcsb pdb:4XBF|rcsb pdb:5H6Q|rcsb pdb:5H6R|rcsb pdb:5L3B|rcsb pdb:5L3C|rcsb pdb:5L3D|rcsb pdb:5L3E|rcsb pdb:5L3F|rcsb pdb:5L3G|rcsb pdb:5LBQ|rcsb pdb:5LGN|rcsb pdb:5LGT|rcsb pdb:5LGU|rcsb pdb:5LHG|rcsb pdb:5LHH|rcsb pdb:5LHI|rcsb pdb:5X60|rcsb pdb:5YJB|rcsb pdb:6K3E|rcsb pdb:6KGK|rcsb pdb:6KGL|rcsb pdb:6KGM|rcsb pdb:6KGN|rcsb pdb:6S35|rcsb pdb:6TE1|rcsb pdb:6VYP|rcsb pdb:6W4K|rcsb pdb:6WC6|rcsb pdb:7CDC|rcsb pdb:7CDD|rcsb pdb:7CDE|rcsb pdb:7CDF|rcsb pdb:7CDG|reactome:R-HSA-3214815|reactome:R-HSA-8943724|reactome:R-HSA-9679191|reactome:R-HSA-983231 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B1KfnjicGzKdWGnGGrZwjgpMQ309606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EQV9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11602732|ensembl:ENSP00000405590 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7eqv9_human(display_long)|uniprotkb:RPL15(gene name)|psi-mi:RPL15(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000174748(gene)|ensembl:ENST00000434031(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR000439(Ribosomal protein L15e)|interpro:IPR012678(Ribosomal protein L23/L15e, core)|interpro:IPR020925|interpro:IPR024794 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Dz0rovKu2Tp9y7hxxpZIUxiO6tk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62244 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-347895|ensembl:ENSP00000318646|ensembl:ENSP00000457000|ensembl:ENSP00000458115|ensembl:ENSP00000458528|uniprotkb:P39027|uniprotkb:P39031|uniprotkb:Q3MHD9|uniprotkb:Q8C023|uniprotkb:Q9BV24 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs15a_human(display_long)|uniprotkb:RPS15A(gene name)|psi-mi:RPS15A(display_short)|uniprotkb:Small ribosomal subunit protein uS8(gene name synonym)|uniprotkb:OK/SW-cl.82(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000134419(gene)|ensembl:ENST00000322989(transcript)|ensembl:ENST00000563390(transcript)|ensembl:ENST00000565420(transcript)|ensembl:ENST00000572008(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0009615"(response to virus)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0045787"(positive regulation of cell cycle)|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|go:"GO:0070062"(extracellular exosome)|rcsb pdb:6G4W|interpro:IPR000630(Ribosomal protein S8)|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|interpro:IPR035987|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|mint:P62244|rcsb pdb:4UG0|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:4V6X|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-72695|reactome:R-HSA-975957|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|rcsb pdb:6ZM7|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|refseq:NP_001010.2|refseq:NP_001025180.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Qdnhk7yvoFFYcRq5kEi7GQILaxs9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BUP0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1055068|uniprotkb:Q9BTF8|uniprotkb:Q9H8I2|uniprotkb:Q9HBQ0|uniprotkb:B2RD83|uniprotkb:E9PFH3|ensembl:ENSP00000264059 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:efhd1_human(display_long)|uniprotkb:EF-hand domain-containing protein 1(gene name synonym)|uniprotkb:Swiprosin-2(gene name synonym)|uniprotkb:EFHD1(gene name)|psi-mi:EFHD1(display_short)|uniprotkb:SWS2(gene name synonym)|uniprotkb:PP3051(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001295324.1|refseq:NP_079478.1|refseq:NP_001230181.1|ensembl:ENSG00000115468(gene)|ensembl:ENST00000264059(transcript)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005739"(mitochondrion)|go:"GO:0005743"(mitochondrial inner membrane)|go:"GO:0031175"(neuron projection development)|go:"GO:0061891"(calcium ion sensor activity)|go:"GO:1900069"(regulation of cellular hyperosmotic salinity response)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR040365 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PjArO1piM94yZHstQDZzkDN8cwI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14643 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-465548|ensembl:ENSP00000497605|uniprotkb:Q14660|uniprotkb:Q99897|uniprotkb:E7EPX7|uniprotkb:E9PDE9 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:itpr1_human(display_long)|uniprotkb:ITPR1(gene name)|psi-mi:ITPR1(display_short)|uniprotkb:INSP3R1(gene name synonym)|uniprotkb:Type 1 inositol 1,4,5-trisphosphate receptor(gene name synonym)|uniprotkb:IP3 receptor isoform 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000150995(gene)|ensembl:ENST00000649015(transcript)|go:"GO:0001666"(response to hypoxia)|go:"GO:0005220"(inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005637"(nuclear inner membrane)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005955"(calcineurin complex)|go:"GO:0006816"(calcium ion transport)|go:"GO:0007165"(signal transduction)|go:"GO:0009791"(post-embryonic development)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015085"(calcium ion transmembrane transporter activity)|go:"GO:0015278"(calcium-release channel activity)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016529"(sarcoplasmic reticulum)|go:"GO:0019855"(calcium channel inhibitor activity)|go:"GO:0030658"(transport vesicle membrane)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0031088"(platelet dense granule membrane)|go:"GO:0031094"(platelet dense tubular network)|go:"GO:0031095"(platelet dense tubular network membrane)|go:"GO:0032469"(endoplasmic reticulum calcium ion homeostasis)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0042045"(epithelial fluid transport)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050849"(negative regulation of calcium-mediated signaling)|go:"GO:0050882"(voluntary musculoskeletal movement)|go:"GO:0051209"(release of sequestered calcium ion into cytosol)|go:"GO:0070059"(intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress)|go:"GO:0070679"(inositol 1,4,5 trisphosphate binding)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|interpro:IPR000493(Inositol 1,4,5-trisphosphate-binding protein receptor)|interpro:IPR000699(Intracellular calcium-release channel)|interpro:IPR005821(Ion transport)|interpro:IPR013662(RyR and IP3R Homology associated)|interpro:IPR014821(Inositol 1,4,5-trisphosphate/ryanodine receptor)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR016093(MIR motif)|interpro:IPR035910|interpro:IPR036300|reactome:R-HSA-112043|reactome:R-HSA-114508|reactome:R-HSA-139853|reactome:R-HSA-1489509|go:"GO:0098695"(inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels)|reactome:R-HSA-2029485|reactome:R-HSA-2871809|reactome:R-HSA-381676|reactome:R-HSA-4086398|reactome:R-HSA-418457|reactome:R-HSA-422356|reactome:R-HSA-5218921|reactome:R-HSA-5578775|reactome:R-HSA-5607763|reactome:R-HSA-9664323|reactome:R-HSA-983695|refseq:NP_001093422.2|refseq:NP_002213.5|refseq:XP_011531985.1|dip:DIP-29714N|refseq:NP_001161744.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:54BRt783vU5D9fCHNO5uFJy1N7I9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8NC51 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-523558|uniprotkb:Q8WUH0|uniprotkb:Q96SE2|uniprotkb:Q9BTY3|uniprotkb:Q9BUM4|uniprotkb:Q9Y367|uniprotkb:Q9Y4S3|uniprotkb:Q5VU19|intact:EBI-1058614|ensembl:ENSP00000360034|uniprotkb:Q5VU20|uniprotkb:Q5VU22 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pairb_human(display_long)|uniprotkb:PAI1 RNA-binding protein 1(gene name synonym)|uniprotkb:SERPINE1 mRNA-binding protein 1(gene name synonym)|uniprotkb:CGI-55(orf name)|uniprotkb:SERBP1(gene name)|psi-mi:SERBP1(display_short)|uniprotkb:PAIRBP1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000142864(gene)|ensembl:ENST00000370995(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0016020"(membrane)|go:"GO:0030578"(PML body organization)|go:"GO:0032183"(SUMO binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043022"(ribosome binding)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0045296"(cadherin binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0070062"(extracellular exosome)|interpro:IPR006861(Hyaluronan/mRNA binding protein)|interpro:IPR027205|interpro:IPR032381|interpro:IPR039764|mint:Q8NC51|rcsb pdb:4V6X|rcsb pdb:6Z6M|rcsb pdb:6Z6N|refseq:NP_001018077.1|refseq:NP_001018078.1|refseq:NP_001018079.1|refseq:NP_056455.3|dip:DIP-33819N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:lVkIPRkoXs3B4Qop1pA2zG/RKlo9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0R117 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044265|ensembl:ENSP00000471584 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0r117_human(display_long)|uniprotkb:RPL18A(gene name)|psi-mi:RPL18A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000105640(gene)|ensembl:ENST00000600147(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR021138|interpro:IPR023573|interpro:IPR028877 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8SmNfN4PVIDCunGHH+Qogfm5f2U9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q86V48 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350467|uniprotkb:Q5TH93|uniprotkb:Q8N4X3|uniprotkb:Q8TEH1|ensembl:ENSP00000303758|ensembl:ENSP00000393460 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:luzp1_human(display_long)|uniprotkb:LUZP1(gene name)|psi-mi:LUZP1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001136018.1|refseq:NP_361013.3|refseq:XP_011540392.1|refseq:XP_011540393.1|ensembl:ENSG00000169641(gene)|ensembl:ENST00000302291(transcript)|ensembl:ENST00000418342(transcript)|go:"GO:0003281"(ventricular septum development)|go:"GO:0005634"(nucleus)|go:"GO:0016020"(membrane)|go:"GO:0021503"(neural fold bending)|go:"GO:0060840"(artery development)|go:"GO:0070062"(extracellular exosome)|interpro:IPR026734|mint:Q86V48|refseq:XP_016857741.1|dip:DIP-33113N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:l456S0i3H1z5fv6M4SNkdrls/c49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75367 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2868511|uniprotkb:Q7Z5E3|uniprotkb:Q9UP96|uniprotkb:Q9H8P3|uniprotkb:Q503A8|uniprotkb:O75377|uniprotkb:Q96D41|ensembl:ENSP00000423563|ensembl:ENSP00000424971 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2ay_human(display_long)|uniprotkb:MACROH2A1(gene name)|psi-mi:MACROH2A1(display_short)|uniprotkb:H2AFY(gene name synonym)|uniprotkb:Histone H2A.y(gene name synonym)|uniprotkb:Medulloblastoma antigen MU-MB-50.205(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011542031.1|refseq:XP_011542032.1|refseq:NP_001035248.1|refseq:NP_004884.1|refseq:NP_613075.1|refseq:NP_613258.2|dip:DIP-44283N|ensembl:ENSG00000113648(gene)|ensembl:ENST00000510038(transcript)|ensembl:ENST00000511689(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000182"(rDNA binding)|go:"GO:0000228"(nuclear chromosome)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000785"(chromatin)|go:"GO:0000786"(nucleosome)|go:"GO:0000793"(condensed chromosome)|go:"GO:0000976"(transcription cis-regulatory region binding)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0001739"(sex chromatin)|go:"GO:0001740"(Barr body)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005721"(pericentric heterochromatin)|go:"GO:0005730"(nucleolus)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0006342"|go:"GO:0007549"(dosage compensation)|go:"GO:0010385"(double-stranded methylated DNA binding)|go:"GO:0019216"(regulation of lipid metabolic process)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030291"(protein serine/threonine kinase inhibitor activity)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0031492"(nucleosomal DNA binding)|go:"GO:0033128"(negative regulation of histone phosphorylation)|go:"GO:0034184"(positive regulation of maintenance of mitotic sister chromatid cohesion)|go:"GO:0040029"(regulation of gene expression, epigenetic)|go:"GO:0045618"(positive regulation of keratinocyte differentiation)|go:"GO:0045814"(negative regulation of gene expression, epigenetic)|go:"GO:0000979"(RNA polymerase II core promoter sequence-specific DNA binding)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0051572"(negative regulation of histone H3-K4 methylation)|go:"GO:0061086"(negative regulation of histone H3-K27 methylation)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071169"(establishment of protein localization to chromatin)|go:"GO:0071901"(negative regulation of protein serine/threonine kinase activity)|go:"GO:1901837"(negative regulation of transcription of nucleolar large rRNA by RNA polymerase I)|go:"GO:1902750"(negative regulation of cell cycle G2/M phase transition)|go:"GO:1902882"(regulation of response to oxidative stress)|go:"GO:1902883"(negative regulation of response to oxidative stress)|go:"GO:1902884"(positive regulation of response to oxidative stress)|go:"GO:1903226"(positive regulation of endodermal cell differentiation)|go:"GO:1904815"(negative regulation of protein localization to chromosome, telomeric region)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:0045815"(epigenetic maintenance of chromatin in transcription-competent conformation)|interpro:IPR002589(Appr-1-p processing)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|interpro:IPR021171|interpro:IPR032454|interpro:IPR035796|interpro:IPR043472|mint:O75367|rcsb pdb:1U35|rcsb pdb:1ZR3|rcsb pdb:1ZR5|rcsb pdb:2F8N|rcsb pdb:2FXK|rcsb pdb:3HQH|rcsb pdb:3HSV|rcsb pdb:3IID|rcsb pdb:3IIF|rcsb pdb:3IVB|rcsb pdb:5IIT|rcsb pdb:5LNC|interpro:IPR002119(Histone H2A) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0FCoM0/4mTtnc7cPDUleKuZ3HgM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O43293 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-77293|uniprotkb:A0AVN4|uniprotkb:B3KQE2|uniprotkb:Q05JY4|ensembl:ENSP00000301264|ensembl:ENSP00000442973 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dapk3_human(display_long)|uniprotkb:DAPK3(gene name)|psi-mi:DAPK3(display_short)|uniprotkb:ZIPK(gene name synonym)|uniprotkb:DAP-like kinase(gene name synonym)|uniprotkb:Zipper-interacting protein kinase(gene name synonym)|uniprotkb:MYPT1 kinase(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001339.1|refseq:XP_005259565.1|ensembl:ENSG00000167657(gene)|ensembl:ENST00000301264(transcript)|ensembl:ENST00000545797(transcript)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005884"(actin filament)|go:"GO:0006325"(chromatin organization)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0006915"(apoptotic process)|go:"GO:0006940"(regulation of smooth muscle contraction)|go:"GO:0007088"(regulation of mitotic nuclear division)|go:"GO:0007346"(regulation of mitotic cell cycle)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008140"(cAMP response element binding protein binding)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0016605"(PML body)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0030182"(neuron differentiation)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0031267"(small GTPase binding)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043519"(regulation of myosin II filament organization)|go:"GO:0043522"(leucine zipper domain binding)|go:"GO:0045121"(membrane raft)|go:"GO:0046777"(protein autophosphorylation)|go:"GO:0051893"(regulation of focal adhesion assembly)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0097190"(apoptotic signaling pathway)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|go:"GO:2000145"(regulation of cell motility)|go:"GO:2000249"(regulation of actin cytoskeleton reorganization)|go:"GO:2001241"(positive regulation of extrinsic apoptotic signaling pathway in absence of ligand)|interpro:IPR000719(Protein kinase, core)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR042870|mint:O43293|rcsb pdb:1YRP|rcsb pdb:2J90|rcsb pdb:3BHY|rcsb pdb:3BQR|rcsb pdb:5A6N|rcsb pdb:5A6O|rcsb pdb:5VJA|reactome:R-HSA-418889 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:s8wsdvHltjaM7k0sJRNSjpXVpwM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P20671 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-4407441|uniprotkb:A0PK91|uniprotkb:P57754|uniprotkb:Q6FGY6|ensembl:ENSP00000341094 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2a1d_human(display_long)|uniprotkb:H2AC7(gene name)|psi-mi:H2AC7(display_short)|uniprotkb:H2AFG(gene name synonym)|uniprotkb:HIST1H2AD(gene name synonym)|uniprotkb:Histone H2A.3(gene name synonym)|uniprotkb:Histone H2A/g(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_066409.1|reactome:R-HSA-9610379|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-977225|ensembl:ENSG00000196866(gene)|ensembl:ENST00000341023(transcript)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006342"|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002119(Histone H2A)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|interpro:IPR032454|interpro:IPR032458|rcsb pdb:5GT3|rcsb pdb:6KBB|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214815|reactome:R-HSA-3214847|reactome:R-HSA-3214858|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-5689603|reactome:R-HSA-5689880|reactome:R-HSA-5689901|reactome:R-HSA-606279|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9609690 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Geraq+dGw3pvAAhgzzXQnYxDOOw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04792 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352682|uniprotkb:Q6FI47|uniprotkb:Q96C20|uniprotkb:Q96EI7|uniprotkb:Q9UC34|uniprotkb:Q9UC35|uniprotkb:Q9UC36|uniprotkb:Q9UC31|ensembl:ENSP00000248553|uniprotkb:B2R4N8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hspb1_human(display_long)|uniprotkb:HSPB1(gene name)|psi-mi:HSPB1(display_short)|uniprotkb:HSP27(gene name synonym)|uniprotkb:HSP28(gene name synonym)|uniprotkb:Heat shock 27 kDa protein(gene name synonym)|uniprotkb:Stress-responsive protein 27(gene name synonym)|uniprotkb:Estrogen-regulated 24 kDa protein(gene name synonym)|uniprotkb:28 kDa heat shock protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001531.1|ensembl:ENSG00000106211(gene)|ensembl:ENST00000248553(transcript)|go:"GO:0000502"(proteasome complex)|go:"GO:0001895"(retina homeostasis)|go:"GO:0001932"(regulation of protein phosphorylation)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005819"(spindle)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006446"(regulation of translational initiation)|go:"GO:0006469"(negative regulation of protein kinase activity)|go:"GO:0006986"(response to unfolded protein)|go:"GO:0008426"(protein kinase C inhibitor activity)|go:"GO:0009615"(response to virus)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030018"(Z disc)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0035924"(cellular response to vascular endothelial growth factor stimulus)|go:"GO:0038033"(positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043122"(regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043130"(ubiquitin binding)|go:"GO:0043536"(positive regulation of blood vessel endothelial cell migration)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0045766"(positive regulation of angiogenesis)|go:"GO:0061077"(chaperone-mediated protein folding)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0099641"(anterograde axonal protein transport)|go:"GO:1902176"(negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway)|go:"GO:1904115"(axon cytoplasm)|go:"GO:2001028"(positive regulation of endothelial cell chemotaxis)|interpro:IPR001436(Alpha crystallin/Heat shock protein)|interpro:IPR002068(Heat shock protein Hsp20)|interpro:IPR008978(HSP20-like chaperone)|interpro:IPR037876|mint:P04792|rcsb pdb:2N3J|rcsb pdb:3Q9P|rcsb pdb:3Q9Q|rcsb pdb:4MJH|rcsb pdb:6DV5|rcsb pdb:6GJH|reactome:R-HSA-4420097|reactome:R-HSA-450408|reactome:R-HSA-5687128|reactome:R-HSA-9009391|dip:DIP-412N intact:EBI-27044482(see-also) - crc64:1B4DC44A6F6606D5 figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:vrDXIdzP30aHSDLHOh2D4x54eJY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BUA3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1773488|uniprotkb:Q68CV7|uniprotkb:Q6PHS2|uniprotkb:Q96IH0|ensembl:ENSP00000294244 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:spndc_human(display_long)|uniprotkb:SPINDOC(gene name)|psi-mi:SPINDOC(display_short)|uniprotkb:C11orf84(gene name synonym)|uniprotkb:SPIN1-docking protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_612480.1|ensembl:ENSG00000168005(gene)|ensembl:ENST00000294244(transcript)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|interpro:IPR040647|rcsb pdb:7CNA intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:E2x/R+y2xIJL91JjJ9ShbFFJL5g9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P67936 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1642100|uniprotkb:P07226|uniprotkb:Q15659|uniprotkb:Q9BU85|uniprotkb:Q9H8Q3|uniprotkb:Q5U0D9|uniprotkb:Q9UCS1|uniprotkb:Q9UCS2|uniprotkb:Q9UCS3|uniprotkb:Q9UCS4|ensembl:ENSP00000495347 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tpm4_human(display_long)|uniprotkb:TPM4(gene name)|psi-mi:TPM4(display_short)|uniprotkb:Tropomyosin-4(gene name synonym)|uniprotkb:TM30p1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001138632.1|refseq:NP_003281.1|ensembl:ENSG00000167460(gene)|ensembl:ENST00000643579(transcript)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0001725"(stress fiber)|go:"GO:0002102"(podosome)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005862"(muscle thin filament tropomyosin)|go:"GO:0005884"(actin filament)|go:"GO:0005925"(focal adhesion)|go:"GO:0006936"(muscle contraction)|go:"GO:0007015"(actin filament organization)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0016020"(membrane)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000533(Tropomyosin)|interpro:IPR014751(DNA double-strand break repair and VJ recombination XRCC4, C-terminal)|mint:P67936|reactome:R-HSA-390522|reactome:R-HSA-445355|reactome:R-HSA-9013424 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:o8bLltMHW3vvC7Tp6YpiC0M6lkw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KMX5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044170|ensembl:ENSP00000228140 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3kmx5_human(display_long)|uniprotkb:RPS13(gene name)|psi-mi:RPS13(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000110700(gene)|ensembl:ENST00000228140(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR009068(S15/NS1, RNA-binding)|interpro:IPR012606(Ribosomal protein S13/S15, N-terminal)|interpro:IPR023029 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:zRRsyS26ngXn/K/pgzYMMitocQQ9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y657 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-727129|uniprotkb:Q7KZJ8|uniprotkb:Q9GZT2|uniprotkb:Q9H0N7|uniprotkb:A8K0X6|uniprotkb:B3KRQ4|ensembl:ENSP00000365019 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:spin1_human(display_long)|uniprotkb:Ovarian cancer-related protein(gene name synonym)|uniprotkb:SPIN1(gene name)|psi-mi:SPIN1(display_short)|uniprotkb:OCR(gene name synonym)|uniprotkb:SPIN(gene name synonym)|uniprotkb:Spindlin1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006708.2|ensembl:ENSG00000106723(gene)|ensembl:ENST00000375859(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006325"(chromatin organization)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0007276"(gamete generation)|go:"GO:0009303"(rRNA transcription)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0030177"(positive regulation of Wnt signaling pathway)|go:"GO:0031965"(nuclear membrane)|go:"GO:0035064"(methylated histone binding)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0051321"(meiotic cell cycle)|interpro:IPR003671(Spindlin/spermiogenesis-specific protein)|interpro:IPR029565|interpro:IPR042567|mint:Q9Y657|rcsb pdb:2NS2|rcsb pdb:4H75|rcsb pdb:4MZF|rcsb pdb:4MZG|rcsb pdb:4MZH|rcsb pdb:5JSG|rcsb pdb:5JSJ|rcsb pdb:5Y5W|rcsb pdb:6I8B|rcsb pdb:6I8L|rcsb pdb:6I8Y|rcsb pdb:6QPL|rcsb pdb:7BQZ|rcsb pdb:7BU9|rcsb pdb:7CNA|dip:DIP-40062N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:OY/wCdms/yjDXj5aY2QffHXXXUY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:I3L1L3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26955034|ensembl:ENSP00000458919 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:i3l1l3_human(display_long)|uniprotkb:MYBBP1A(gene name)|psi-mi:MYBBP1A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005730"(nucleolus)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0043231"(intracellular membrane-bounded organelle)|interpro:IPR007015(DNA polymerase V)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR016024(Armadillo-type fold)|ensembl:ENSG00000132382(gene)|ensembl:ENST00000573116(transcript)|go:"GO:0003677"(DNA binding) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nINs4THVlRPw4Bpgit3pSmMPghA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q00839 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351126|uniprotkb:O75507|uniprotkb:Q8N174|uniprotkb:Q96HY9|uniprotkb:Q9BQ09|ensembl:ENSP00000491215 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hnrpu_human(display_long)|uniprotkb:HNRNPU(gene name)|psi-mi:HNRNPU(display_short)|uniprotkb:SAFA(gene name synonym)|uniprotkb:U21.1(gene name synonym)|uniprotkb:HNRPU(gene name synonym)|uniprotkb:p120(gene name synonym)|uniprotkb:pp120(gene name synonym)|uniprotkb:C1orf199(gene name synonym)|uniprotkb:GRIP120(gene name synonym)|uniprotkb:Nuclear p120 ribonucleoprotein(gene name synonym)|uniprotkb:Scaffold-attachment factor A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004492.2|refseq:NP_114032.2|ensembl:ENSG00000153187(gene)|ensembl:ENST00000640218(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000228"(nuclear chromosome)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0000776"(kinetochore)|go:"GO:0000922"(spindle pole)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000993"(RNA polymerase II complex binding)|go:"GO:0001097"(TFIIH-class transcription factor complex binding)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003677"(DNA binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003690"(double-stranded DNA binding)|go:"GO:0003697"(single-stranded DNA binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0003727"(single-stranded RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:1990498"(mitotic spindle microtubule)|go:"GO:0098577"(inactive sex chromosome)|go:"GO:0098963"(dendritic transport of messenger ribonucleoprotein complex)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|go:"GO:1990837"(sequence-specific double-stranded DNA binding)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:1990845"(adaptive thermogenesis)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000373"("positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity")|go:"GO:2000648"(positive regulation of stem cell proliferation)|go:"GO:2000737"(negative regulation of stem cell differentiation)|interpro:IPR001870("B302 (SPRY)-like")|interpro:IPR003034(DNA-binding SAP)|interpro:IPR003877(SPla/RYanodine receptor SPRY)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR026745|interpro:IPR027417|interpro:IPR035778|interpro:IPR036361|interpro:IPR043136|mint:Q00839|rcsb pdb:1ZRJ|reactome:R-HSA-72163|reactome:R-HSA-72203|go:"GO:0099122"(RNA polymerase II C-terminal domain binding)|go:"GO:1901673"(regulation of mitotic spindle assembly)|go:"GO:1902275"(regulation of chromatin organization)|go:"GO:1902425"(positive regulation of attachment of mitotic spindle microtubules to kinetochore)|go:"GO:1902889"(protein localization to spindle microtubule)|go:"GO:1990023"(mitotic spindle midzone)|go:"GO:1990280"(RNA localization to chromatin)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005697"(telomerase holoenzyme complex)|go:"GO:0005813"(centrosome)|go:"GO:0006325"(chromatin organization)|go:"GO:0006396"(RNA processing)|go:"GO:0007049"(cell cycle)|go:"GO:0007346"(regulation of mitotic cell cycle)|go:"GO:0008143"("poly(A) binding")|go:"GO:0009048"(dosage compensation by inactivation of X chromosome)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0016363"(nuclear matrix)|go:"GO:0016607"(nuclear speck)|go:"GO:0017069"(snRNA binding)|go:"GO:0017130"("poly(C) RNA binding")|go:"GO:0030496"(midbody)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0032211"(negative regulation of telomere maintenance via telomerase)|go:"GO:0032839"(dendrite cytoplasm)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033673"(negative regulation of kinase activity)|go:"GO:0034046"("poly(G) binding")|go:"GO:0034244"(negative regulation of transcription elongation from RNA polymerase II promoter)|go:"GO:0036002"(pre-mRNA binding)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042802"(identical protein binding)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048255"(mRNA stabilization)|go:"GO:0051301"(cell division)|go:"GO:0051457"(maintenance of protein location in nucleus)|go:"GO:0055013"(cardiac muscle cell development)|go:"GO:0070034"(telomerase RNA binding)|go:"GO:0070934"(CRD-mediated mRNA stabilization)|go:"GO:0070937"(CRD-mediated mRNA stability complex)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:0071385"(cellular response to glucocorticoid stimulus)|go:"GO:0072686"(mitotic spindle)|go:"GO:0090336"(positive regulation of brown fat cell differentiation)|refseq:XP_016856604.1|refseq:XP_016856605.1|refseq:XP_016856606.1|dip:DIP-684N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:n73PY0Vis+D5Iq0q77h5Ck2V4789606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E5RI99 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11602717|ensembl:ENSP00000429483 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e5ri99_human(display_long)|uniprotkb:RPL30(gene name)|psi-mi:RPL30(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000156482(gene)|ensembl:ENST00000521726(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0022625"(cytosolic large ribosomal subunit)|interpro:IPR000231(Ribosomal protein L30e)|interpro:IPR004038(Ribosomal protein L7Ae/L30e/S12e/Gadd45)|interpro:IPR022991|interpro:IPR029064|interpro:IPR039109 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/XtNkobILICE8La679+Vydnf6cs9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96JM2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1210359|uniprotkb:Q8N408|uniprotkb:Q5T0T4|intact:EBI-28975500|ensembl:ENSP00000277225 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn462_human(display_long)|uniprotkb:ZNF462(gene name)|psi-mi:ZNF462(display_short)|uniprotkb:KIAA1803(gene name synonym)|uniprotkb:Zinc finger PBX1-interacting protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_067047.4|ensembl:ENSP00000277225|ensembl:ENST00000441147|ensembl:ENSP00000397306|refseq:XP_006717278.1|refseq:XP_006717279.1|dip:DIP-39340N|ensembl:ENSG00000148143(gene)|ensembl:ENST00000277225(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006325"(chromatin organization)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0043392"(negative regulation of DNA binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|mint:Q96JM2|rcsb pdb:1X6F intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ftIOu4wVkBWJw+4aHw+R+nN44Vc9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7ETK0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25617761|ensembl:ENSP00000415549 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7etk0_human(display_long)|uniprotkb:RPS24(gene name)|psi-mi:RPS24(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138326(gene)|ensembl:ENST00000435275(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001976(Ribosomal protein S24e)|interpro:IPR012678(Ribosomal protein L23/L15e, core)|interpro:IPR018098|rcsb pdb:6ZVJ|rcsb pdb:7A09 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Pm8ixG9+zH0UJuOG2HDx6ALJtA09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62081 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354360|uniprotkb:Q6IPH1|uniprotkb:P23821|uniprotkb:P24818|uniprotkb:Q57Z92|ensembl:ENSP00000385018|ensembl:ENSP00000385286|ensembl:ENSP00000495273|ensembl:ENSP00000496654|ensembl:ENSP00000496757 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs7_human(display_long)|uniprotkb:RPS7(gene name)|psi-mi:RPS7(display_short)|uniprotkb:Small ribosomal subunit protein eS7(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001002.1|ensembl:ENSG00000171863(gene)|ensembl:ENST00000403564(transcript)|ensembl:ENST00000406376(transcript)|ensembl:ENST00000462576(transcript)|ensembl:ENST00000645674(transcript)|ensembl:ENST00000646909(transcript)|go:"GO:0001843"(neural tube closure)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030154"(cell differentiation)|go:"GO:0032040"(small-subunit processome)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0045202"(synapse)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0050821"(protein stabilization)|go:"GO:1902255"(positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator)|go:"GO:1904667"(negative regulation of ubiquitin protein ligase activity)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:1990948"(ubiquitin ligase inhibitor activity)|go:"GO:2000059"(negative regulation of ubiquitin-dependent protein catabolic process)|interpro:IPR000554(Ribosomal protein S7e)|mint:P62081|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6G4S intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:l4aG6I34lmzYhNapbdv2CAAwRwg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P22087 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358318|uniprotkb:O75259|uniprotkb:Q6IAT5|uniprotkb:Q9UPI6|ensembl:ENSP00000221801|ensembl:ENSP00000487390|uniprotkb:B5BUE8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:fbrl_human(display_long)|uniprotkb:FBL(gene name)|psi-mi:FBL(display_short)|uniprotkb:FIB1(gene name synonym)|uniprotkb:FLRN(gene name synonym)|uniprotkb:Histone-glutamine methyltransferase(gene name synonym)|uniprotkb:34 kDa nucleolar scleroderma antigen(gene name synonym)|uniprotkb:U6 snRNA 2'-O-methyltransferase fibrillarin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001427.2|ensembl:ENSG00000105202(gene)|ensembl:ENSG00000280548(gene)|ensembl:ENST00000221801(transcript)|ensembl:ENST00000625241(transcript)|go:"GO:0000494"(box C/D RNA 3'-end processing)|go:"GO:0001094"(TFIID-class transcription factor complex binding)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0001650"(fibrillar center)|go:"GO:0001651"(dense fibrillar component)|go:"GO:0001652"(granular component)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0006364"(rRNA processing)|go:"GO:0008649"(rRNA methyltransferase activity)|go:"GO:0015030"(Cajal body)|go:"GO:0016020"(membrane)|go:"GO:0031167"(rRNA methylation)|go:"GO:0031428"(box C/D RNP complex)|go:"GO:0032040"(small-subunit processome)|go:"GO:0048254"(snoRNA localization)|go:"GO:0051117"(ATPase binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990258"(histone glutamine methylation)|go:"GO:1990259"(histone-glutamine methyltransferase activity)|interpro:IPR000692(Fibrillarin)|interpro:IPR020813|interpro:IPR029063|mint:P22087|rcsb pdb:2IPX|reactome:R-HSA-6790901|reactome:R-HSA-6791226|dip:DIP-27569N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8m8FDRSxGNKNXpJMcWWbcHL3uss9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04439 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1042870|uniprotkb:O02963|uniprotkb:O78073|uniprotkb:P79563|uniprotkb:Q30208|uniprotkb:Q31623|uniprotkb:Q95377|uniprotkb:Q9BD15|uniprotkb:Q9BD19|uniprotkb:Q9MW42|uniprotkb:Q9TQK5|ensembl:ENSP00000366005|ensembl:ENSP00000379873|intact:EBI-1050524|intact:EBI-1049899|intact:EBI-2839447|intact:EBI-1044129|intact:EBI-8770309|intact:EBI-21249599|uniprotkb:B1PKZ3|uniprotkb:O02939|uniprotkb:O02954|uniprotkb:O02955|uniprotkb:O19509|uniprotkb:O19546|uniprotkb:O19598|uniprotkb:O19605|uniprotkb:O19606|uniprotkb:O19619|uniprotkb:O19647|uniprotkb:O19673|uniprotkb:O19687|uniprotkb:O19695|uniprotkb:O19756|uniprotkb:O19794|uniprotkb:O19795|uniprotkb:O43906|uniprotkb:O43907|uniprotkb:O46874|uniprotkb:O62921|uniprotkb:O62924|uniprotkb:O77937|uniprotkb:O77938|uniprotkb:O77964|uniprotkb:O78171|uniprotkb:O98009|uniprotkb:P30455|uniprotkb:P30456|uniprotkb:P30457|uniprotkb:P30458|uniprotkb:O98010|uniprotkb:O98011|uniprotkb:O98137|uniprotkb:P01891|uniprotkb:P01892|uniprotkb:P05534|uniprotkb:P06338|uniprotkb:P10313|uniprotkb:P10314|uniprotkb:P10315|uniprotkb:P10316|uniprotkb:P13746|uniprotkb:P16188|uniprotkb:P16189|uniprotkb:P16190|uniprotkb:P18462|uniprotkb:P30443|uniprotkb:P30444|uniprotkb:P30445|uniprotkb:P30446|uniprotkb:P30447|uniprotkb:P30448|uniprotkb:P30449|uniprotkb:P30450|uniprotkb:P30451|uniprotkb:P30514|uniprotkb:P79505|uniprotkb:P79562|uniprotkb:Q09160|uniprotkb:Q29680|uniprotkb:P30512|uniprotkb:Q29747|uniprotkb:Q29835|uniprotkb:Q29837|uniprotkb:Q29838|uniprotkb:Q29899|uniprotkb:Q29908|uniprotkb:Q29909|uniprotkb:Q29910|uniprotkb:Q5S3G1|uniprotkb:Q65A82|uniprotkb:Q8MHM1|uniprotkb:Q8MHN9|uniprotkb:Q95352|uniprotkb:Q95355|uniprotkb:P30452|uniprotkb:P30459|uniprotkb:Q95380|uniprotkb:Q95IZ5|uniprotkb:Q9BCN0|uniprotkb:Q9GJE6|uniprotkb:Q9GJE7|uniprotkb:Q9GJE8|uniprotkb:Q9MY89|uniprotkb:Q9MYA3|uniprotkb:Q9MYA5|uniprotkb:Q9MYC4|uniprotkb:Q9MYE6|uniprotkb:Q9MYE9|uniprotkb:Q9MYG4|uniprotkb:Q9MYG5|uniprotkb:Q9MYI5|uniprotkb:Q9TP25|uniprotkb:Q9TPQ3|uniprotkb:Q9TPR8|uniprotkb:Q9TPX8|uniprotkb:Q9TPX9|uniprotkb:Q9TPY0|uniprotkb:Q95362|uniprotkb:Q9TQ24|uniprotkb:Q9TQE8|uniprotkb:Q9TQE9|uniprotkb:Q9TQF1|uniprotkb:Q9TQF5|uniprotkb:Q9TQF8|uniprotkb:Q9TQF9|uniprotkb:Q9TQG0|uniprotkb:Q9TQG5|uniprotkb:Q9TQG7|uniprotkb:Q9TQH5|uniprotkb:Q9TQI3|uniprotkb:Q9TQM6|uniprotkb:Q9TQN5|uniprotkb:Q9TQP5|uniprotkb:Q9TQP6|uniprotkb:Q9TQP7|uniprotkb:Q9UIN1|uniprotkb:Q9UIN2|uniprotkb:Q9UIP7|uniprotkb:Q9UQU3|uniprotkb:Q9UQU6|uniprotkb:Q9UQU7|uniprotkb:P30453|uniprotkb:P30454|intact:EBI-1050350|intact:EBI-21505155 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hlaa_human(display_long)|uniprotkb:HLA-A(gene name)|psi-mi:HLA-A(display_short)|uniprotkb:HLAA(gene name synonym)|uniprotkb:Human leukocyte antigen A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000376809(transcript)|ensembl:ENST00000396634(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001913"(T cell mediated cytotoxicity)|go:"GO:0001916"(positive regulation of T cell mediated cytotoxicity)|go:"GO:0002419"(T cell mediated cytotoxicity directed against tumor cell target)|go:"GO:0002485"(antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent)|go:"GO:0002486"(antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent)|go:"GO:0002726"(positive regulation of T cell cytokine production)|go:"GO:0003723"(RNA binding)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005797"(Golgi medial cisterna)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006955"(immune response)|go:"GO:0009986"(cell surface)|ensembl:ENSG00000206503(gene)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0016020"(membrane)|go:"GO:0016045"(detection of bacterium)|go:"GO:0019731"(antibacterial humoral response)|go:"GO:0019885"(antigen processing and presentation of endogenous peptide antigen via MHC class I)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0030881"(beta-2-microglobulin binding)|go:"GO:0031901"(early endosome membrane)|go:"GO:0032729"(positive regulation of interferon-gamma production)|go:"GO:0036037"(CD8-positive, alpha-beta T cell activation)|go:"GO:0042270"(protection from natural killer cell mediated cytotoxicity)|go:"GO:0042590"(antigen processing and presentation of exogenous peptide antigen via MHC class I)|go:"GO:0042605"(peptide antigen binding)|go:"GO:0042608"(T cell receptor binding)|go:"GO:0042610"(CD8 receptor binding)|go:"GO:0042612"(MHC class I protein complex)|go:"GO:0042824"(MHC class I peptide loading complex)|go:"GO:0045087"(innate immune response)|go:"GO:0046977"(TAP binding)|go:"GO:0050852"(T cell receptor signaling pathway)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0062061"(TAP complex binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070971"(endoplasmic reticulum exit site)|go:"GO:0071556"(integral component of lumenal side of endoplasmic reticulum membrane)|go:"GO:2000566"(positive regulation of CD8-positive, alpha-beta T cell proliferation)|go:"GO:2000568"(positive regulation of memory T cell activation)|go:"GO:2001187"(positive regulation of CD8-positive, alpha-beta T cell activation)|interpro:IPR001039(MHC class I, alpha chain, alpha1 and alpha2)|interpro:IPR003006(Immunoglobulin/major histocompatibility complex, conserved site)|go:"GO:0050830"(defense response to Gram-positive bacterium)|interpro:IPR003597(Immunoglobulin C1-set)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR010579(MHC class I, alpha chain, C-terminal)|interpro:IPR011161(MHC class I-like antigen recognition)|interpro:IPR011162(MHC classes I and II-like antigen recognition)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR037055|mint:P04439|rcsb pdb:1AKJ|rcsb pdb:1AO7|rcsb pdb:1AQD|rcsb pdb:1B0G|rcsb pdb:1B0R|rcsb pdb:1BD2|rcsb pdb:1DUY|rcsb pdb:1DUZ|rcsb pdb:1Q94|rcsb pdb:1QEW|rcsb pdb:1QR1|rcsb pdb:1QRN|rcsb pdb:1QSE|rcsb pdb:1QSF|rcsb pdb:1QVO|rcsb pdb:1S8D|rcsb pdb:1S9W|rcsb pdb:1S9X|rcsb pdb:1S9Y|rcsb pdb:1T1W|rcsb pdb:1T1X|rcsb pdb:1T1Y|rcsb pdb:1T1Z|rcsb pdb:1T20|rcsb pdb:1T21|rcsb pdb:1T22|rcsb pdb:1TMC|rcsb pdb:1TVB|rcsb pdb:1TVH|rcsb pdb:1UR7|rcsb pdb:1W72|rcsb pdb:1X7Q|rcsb pdb:2AV1|rcsb pdb:2AV7|rcsb pdb:2BCK|rcsb pdb:2BNQ|rcsb pdb:2BNR|rcsb pdb:2C7U|rcsb pdb:2CLR|rcsb pdb:2F53|rcsb pdb:2F54|rcsb pdb:2GIT|rcsb pdb:1P7Q|rcsb pdb:2GJ6|rcsb pdb:2GT9|rcsb pdb:2GTW|rcsb pdb:2GTZ|rcsb pdb:1EEY|rcsb pdb:1EEZ|rcsb pdb:1HHG|rcsb pdb:1HHH|rcsb pdb:1HHI|rcsb pdb:1HHJ|rcsb pdb:1HHK|rcsb pdb:1HLA|rcsb pdb:1HSB|rcsb pdb:1I1F|rcsb pdb:1I1Y|rcsb pdb:1I4F|rcsb pdb:1I7R|rcsb pdb:1I7T|rcsb pdb:1I7U|rcsb pdb:1IM3|rcsb pdb:1JF1|rcsb pdb:1JHT|rcsb pdb:1LP9|rcsb pdb:1OGA|rcsb pdb:5HGH|rcsb pdb:5HHM|rcsb pdb:5HHN|rcsb pdb:5HHO|rcsb pdb:5HHP|rcsb pdb:5HHQ|rcsb pdb:5HYJ|rcsb pdb:5IRO|rcsb pdb:5ISZ|rcsb pdb:5JHD|rcsb pdb:5JZI|rcsb pdb:5MEN|rcsb pdb:5MEO|rcsb pdb:5MEP|rcsb pdb:5MEQ|rcsb pdb:5MER|rcsb pdb:5N1Y|rcsb pdb:5N6B|rcsb pdb:5NHT|rcsb pdb:3MR9|rcsb pdb:3MRB|rcsb pdb:3MRC|rcsb pdb:3MRD|rcsb pdb:3MRE|rcsb pdb:3MRF|rcsb pdb:3MRG|rcsb pdb:3MGT|rcsb pdb:3MRH|rcsb pdb:3MRI|rcsb pdb:3MRJ|rcsb pdb:3MRK|rcsb pdb:3MRL|rcsb pdb:3MRM|rcsb pdb:3MRN|rcsb pdb:3MRO|rcsb pdb:3MRP|rcsb pdb:3MRQ|rcsb pdb:3MRR|rcsb pdb:3MYJ|rcsb pdb:3NFN|rcsb pdb:3O3A|rcsb pdb:3O3B|rcsb pdb:3O3D|rcsb pdb:3O3E|rcsb pdb:3O4L|rcsb pdb:3PWJ|rcsb pdb:3PWL|rcsb pdb:3PWN|rcsb pdb:3PWP|rcsb pdb:3QDG|rcsb pdb:3QDJ|rcsb pdb:3QDM|rcsb pdb:3QEQ|rcsb pdb:3QFD|rcsb pdb:3QFJ|rcsb pdb:3QZW|rcsb pdb:3REW|rcsb pdb:3RL1|rcsb pdb:3RL2|rcsb pdb:3TO2|rcsb pdb:3UTQ|rcsb pdb:3UTS|rcsb pdb:3UTT|rcsb pdb:3V5D|rcsb pdb:3V5H|rcsb pdb:3V5K|rcsb pdb:3VXM|rcsb pdb:3VXN|rcsb pdb:3VXO|rcsb pdb:3VXP|rcsb pdb:3VXR|rcsb pdb:3VXS|rcsb pdb:3VXU|rcsb pdb:3W0W|rcsb pdb:3WL9|rcsb pdb:3WLB|rcsb pdb:4E5X|rcsb pdb:4EMZ|rcsb pdb:4EN2|rcsb pdb:4EUP|rcsb pdb:4F7M|rcsb pdb:4F7P|rcsb pdb:4F7T|rcsb pdb:4FTV|rcsb pdb:4L29|rcsb pdb:4L3C|rcsb pdb:4L3E|rcsb pdb:4MJ5|rcsb pdb:4MJ6|rcsb pdb:4MNQ|rcsb pdb:4N8V|rcsb pdb:4NNX|rcsb pdb:4NNY|rcsb pdb:4NO0|rcsb pdb:4NO2|rcsb pdb:4NO3|rcsb pdb:4GKN|rcsb pdb:4NO5|rcsb pdb:4NQV|rcsb pdb:4NQX|rcsb pdb:4OV5|rcsb pdb:4QOK|rcsb pdb:4U6X|rcsb pdb:4GKS|rcsb pdb:4HWZ|rcsb pdb:4HX1|rcsb pdb:4U6Y|rcsb pdb:4UQ2|rcsb pdb:4UQ3|rcsb pdb:4I48|rcsb pdb:4WJ5|rcsb pdb:4I4W|rcsb pdb:4WU5|rcsb pdb:4JFD|rcsb pdb:4WU7|rcsb pdb:4WUU|rcsb pdb:4JFE|rcsb pdb:4JFF|rcsb pdb:4JFO|rcsb pdb:4JFP|rcsb pdb:4JFQ|rcsb pdb:4K7F|rcsb pdb:5BRZ|rcsb pdb:5BS0|rcsb pdb:5C07|rcsb pdb:5C08|rcsb pdb:5C09|rcsb pdb:5C0A|rcsb pdb:5C0B|rcsb pdb:5NMF|rcsb pdb:5NMG|rcsb pdb:5NMH|rcsb pdb:5NMK|rcsb pdb:5NQK|rcsb pdb:5SWQ|rcsb pdb:5TEZ|rcsb pdb:5W1W|rcsb pdb:5WJL|rcsb pdb:5WJN|rcsb pdb:5WKF|rcsb pdb:5WKH|rcsb pdb:5WSH|rcsb pdb:5WWI|rcsb pdb:5WWJ|rcsb pdb:5WWU|rcsb pdb:5WXC|rcsb pdb:5WXD|rcsb pdb:5XOV|rcsb pdb:5YXN|rcsb pdb:5YXU|rcsb pdb:6AM5|rcsb pdb:6AMT|rcsb pdb:6AMU|rcsb pdb:6APN|rcsb pdb:6AT9|rcsb pdb:6D78|rcsb pdb:6D7G|rcsb pdb:6DKP|rcsb pdb:6EI2|rcsb pdb:6ENY|rcsb pdb:6EQA|rcsb pdb:6EQB|rcsb pdb:5NME|rcsb pdb:5C0D|rcsb pdb:5C0E|rcsb pdb:5C0C|rcsb pdb:5C0F|rcsb pdb:5C0G|rcsb pdb:5C0I|rcsb pdb:5C0J|rcsb pdb:5D2L|rcsb pdb:5D2N|rcsb pdb:5D9S|rcsb pdb:5DDH|rcsb pdb:5E00|rcsb pdb:5E6I|rcsb pdb:5E9D|rcsb pdb:5ENW|rcsb pdb:5EOT|rcsb pdb:5EU3|rcsb pdb:5EU4|rcsb pdb:5EU5|rcsb pdb:5EU6|rcsb pdb:5EUO|rcsb pdb:5F7D|rcsb pdb:5F9J|rcsb pdb:5FA3|rcsb pdb:5FA4|rcsb pdb:5FDW|rcsb pdb:5GRD|rcsb pdb:5GRG|rcsb pdb:5GSD|rcsb pdb:5HGA|rcsb pdb:5HGB|rcsb pdb:5HGD|rcsb pdb:6EWA|rcsb pdb:6SS7|rcsb pdb:6SS8|rcsb pdb:6SS9|rcsb pdb:6SSA|reactome:R-HSA-1236974|reactome:R-HSA-1236977|reactome:R-HSA-164940|reactome:R-HSA-198933|reactome:R-HSA-6798695|reactome:R-HSA-877300|reactome:R-HSA-8866654|reactome:R-HSA-909733|reactome:R-HSA-983170|rcsb pdb:6RSY|rcsb pdb:6EWC|rcsb pdb:6EWO|rcsb pdb:6G3J|rcsb pdb:6G3K|rcsb pdb:6ID4|rcsb pdb:6J1W|rcsb pdb:6J29|rcsb pdb:6J2A|rcsb pdb:6JOZ|rcsb pdb:6JP3|rcsb pdb:6MPP|rcsb pdb:6NCA|rcsb pdb:6O9B|rcsb pdb:6O9C|rcsb pdb:6OPD|rcsb pdb:6PBH|rcsb pdb:6PTB|rcsb pdb:6PTE|rcsb pdb:6Q3K|rcsb pdb:6Q3S|rcsb pdb:6R2L|rcsb pdb:6RP9|rcsb pdb:6RPA|rcsb pdb:6RPB|rcsb pdb:2GUO|rcsb pdb:2HLA|rcsb pdb:2HN7|rcsb pdb:2J8U|rcsb pdb:2JCC|rcsb pdb:2P5E|rcsb pdb:2P5W|rcsb pdb:2PYE|rcsb pdb:2UWE|rcsb pdb:2V2W|rcsb pdb:2V2X|rcsb pdb:2VLJ|rcsb pdb:2VLK|rcsb pdb:2VLL|rcsb pdb:2VLR|rcsb pdb:2X4N|rcsb pdb:2X4O|rcsb pdb:2X4P|rcsb pdb:2X4Q|rcsb pdb:2X4R|rcsb pdb:2X4S|rcsb pdb:2X4T|rcsb pdb:2X4U|rcsb pdb:2X70|rcsb pdb:2XPG|rcsb pdb:3BGM|rcsb pdb:3BH8|rcsb pdb:3BH9|rcsb pdb:3BHB|rcsb pdb:3BO8|rcsb pdb:3D25|rcsb pdb:3D39|rcsb pdb:3D3V|rcsb pdb:3FQN|rcsb pdb:3FQR|rcsb pdb:3FQT|rcsb pdb:3FQU|rcsb pdb:3FQW|rcsb pdb:3FQX|rcsb pdb:3FT2|rcsb pdb:3FT3|rcsb pdb:3FT4|rcsb pdb:3GIV|rcsb pdb:3GJF|rcsb pdb:3GSN|rcsb pdb:3GSO|rcsb pdb:3GSQ|rcsb pdb:3GSR|rcsb pdb:3GSU|rcsb pdb:3GSV|rcsb pdb:3GSW|rcsb pdb:3GSX|rcsb pdb:3H7B|rcsb pdb:3H9H|rcsb pdb:3H9S|rcsb pdb:3HAE|rcsb pdb:3HLA|rcsb pdb:3HPJ|rcsb pdb:3I6G|rcsb pdb:3I6K|rcsb pdb:3I6L|rcsb pdb:3IXA|rcsb pdb:3KLA|rcsb pdb:3MGO|refseq:NP_002107.3|refseq:NP_001229687.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:RNvdwEiEB2h1Qfvd4BEIKiGzw1s9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5VTE0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-877809 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ef1a3_human(display_long)|uniprotkb:EEF1A1P5(gene name)|psi-mi:EEF1A1P5(display_short)|uniprotkb:Eukaryotic elongation factor 1 A-like 3(gene name synonym)|uniprotkb:EEF1AL3(gene name synonym)|uniprotkb:Eukaryotic translation elongation factor 1 alpha-1 pseudogene 5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0003746"(translation elongation factor activity)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0006412"(translation)|go:"GO:0006414"(translational elongation)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000795(Protein synthesis factor, GTP-binding)|interpro:IPR009001(Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal)|interpro:IPR004539(Translation elongation factor EF1A, eukaryotic and archaeal)|interpro:IPR004161(Translation elongation factor EFTu/EF1A, domain 2)|interpro:IPR004160(Translation elongation factor EFTu/EF1A, C-terminal)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR031157|reactome:R-HSA-156842|interpro:IPR027417 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3t6tj3i+3CKTC1NsrHyBkeoRK789606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62753 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356625|uniprotkb:P08227|uniprotkb:P10660|uniprotkb:Q4VBY7|uniprotkb:Q8N6Z7|ensembl:ENSP00000369757 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs6_human(display_long)|uniprotkb:RPS6(gene name)|psi-mi:RPS6(display_short)|uniprotkb:Phosphoprotein NP33(gene name synonym)|uniprotkb:Small ribosomal subunit protein eS6(gene name synonym)|uniprotkb:OK/SW-cl.2(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001001.2|reactome:R-HSA-166208|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|interpro:IPR014401(Ribosomal protein S6, eukaryotic)|interpro:IPR018282|mint:P62753|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6F4P|rcsb pdb:6F4Q|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|ensembl:ENSG00000137154(gene)|ensembl:ENST00000380394(transcript)|go:"GO:0000082"(G1/S transition of mitotic cell cycle)|go:"GO:0001890"(placenta development)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0002309"(T cell proliferation involved in immune response)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0006924"(activation-induced cell death of T cells)|go:"GO:0007369"(gastrulation)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022605"(mammalian oogenesis stage)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030425"(dendrite)|go:"GO:0031929"(TOR signaling)|go:"GO:0033077"(T cell differentiation in thymus)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042593"(glucose homeostasis)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0044297"(cell body)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048821"(erythrocyte development)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001377(Ribosomal protein S6e)|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|dip:DIP-31507N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:beDuXCIqL99V9JlVfpzx7MdpH689606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8WWY3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1567797|uniprotkb:Q8N7F9|uniprotkb:Q9H271|uniprotkb:Q9Y439|uniprotkb:Q17RB4|intact:EBI-10177194|uniprotkb:F1T0A5|uniprotkb:E7ESA8|uniprotkb:F1T0A4|ensembl:ENSP00000324122|ensembl:ENSP00000483929 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:prp31_human(display_long)|uniprotkb:Pre-mRNA-processing factor 31(gene name synonym)|uniprotkb:U4/U6 snRNP 61 kDa protein(gene name synonym)|uniprotkb:Serologically defined breast cancer antigen NY-BR-99(gene name synonym)|uniprotkb:PRPF31(gene name)|psi-mi:PRPF31(display_short)|uniprotkb:PRP31(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_006723200.1|refseq:NP_056444.3|ensembl:ENSG00000105618(gene)|ensembl:ENSG00000275885(gene)|ensembl:ENST00000321030(transcript)|ensembl:ENST00000613693(transcript)|go:"GO:0000244"(spliceosomal tri-snRNP complex assembly)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005684"(U2-type spliceosomal complex)|go:"GO:0071339"(MLL1 complex)|go:"GO:0097526"(spliceosomal tri-snRNP complex)|go:"GO:0005687"(U4 snRNP)|go:"GO:0005690"(U4atac snRNP)|go:"GO:0015030"(Cajal body)|go:"GO:0016607"(nuclear speck)|interpro:IPR002687(Pre-mRNA processing ribonucleoprotein, binding region)|go:"GO:0030621"(U4 snRNA binding)|go:"GO:0030622"(U4atac snRNA binding)|go:"GO:0042802"(identical protein binding)|interpro:IPR012976(NOSIC)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0046540"(U4/U6 x U5 tri-snRNP complex)|go:"GO:0070990"(snRNP binding)|interpro:IPR019175|interpro:IPR027105|go:"GO:0071005"(U2-type precatalytic spliceosome)|go:"GO:0071011"(precatalytic spliceosome)|go:"GO:0071166"(ribonucleoprotein complex localization)|interpro:IPR036070|interpro:IPR042239|mint:Q8WWY3|rcsb pdb:2OZB|rcsb pdb:3JCR|rcsb pdb:3SIU|rcsb pdb:3SIV|rcsb pdb:5O9Z|rcsb pdb:6AH0|rcsb pdb:6AHD|rcsb pdb:6QW6|rcsb pdb:6QX9|reactome:R-HSA-72163 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:NsXY3tY7Y2EEK8rxoisqlfpzuf89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O43390 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-713419|uniprotkb:S4R3J4|uniprotkb:Q5TEH1|ensembl:ENSP00000304405|ensembl:ENSP00000363741|ensembl:ENSP00000489252|ensembl:ENSP00000489371|uniprotkb:Q9BV64|uniprotkb:Q2L7G6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hnrpr_human(display_long)|uniprotkb:HNRPR(gene name synonym)|uniprotkb:HNRNPR(gene name)|psi-mi:HNRNPR(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001095868.1|refseq:XP_005245768.1|ensembl:ENSG00000125944(gene)|ensembl:ENSG00000282958(gene)|ensembl:ENST00000302271(transcript)|ensembl:ENST00000374612(transcript)|ensembl:ENST00000634263(transcript)|ensembl:ENST00000634766(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0006397"(mRNA processing)|go:"GO:0007623"(circadian rhythm)|go:"GO:0030425"(dendrite)|go:"GO:0030426"(growth cone)|go:"GO:0043086"(negative regulation of catalytic activity)|go:"GO:0043679"(axon terminus)|go:"GO:0061157"(mRNA destabilization)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR006535(HnRNP R and Q splicing factor)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034411|interpro:IPR035979|mint:O43390|rcsb pdb:2DK2|reactome:R-HSA-72163|reactome:R-HSA-72203|interpro:IPR041337|refseq:NP_005817.1|refseq:XP_011538773.1|refseq:NP_001284549.1|refseq:XP_016855497.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:UiOaRbnMd1S2FthR4RWltyq6xT49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y4K1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-5453777|uniprotkb:B4DU04|uniprotkb:O00296|uniprotkb:Q5VWJ2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:crbg1_human(display_long)|uniprotkb:CRYBG1(gene name)|psi-mi:CRYBG1(display_short)|uniprotkb:AIM1(gene name synonym)|uniprotkb:Absent in melanoma 1 protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001615.2|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR000772(Ricin B lectin)|rcsb pdb:2DAD|rcsb pdb:3CW3|interpro:IPR035992|rcsb pdb:6VRO|go:"GO:0030246"(carbohydrate binding) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:mdQxrU/fgkY/DzoaZsyeED+jPFk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O95785 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1387294|uniprotkb:B7ZM82|uniprotkb:Q4G0E0|uniprotkb:Q6P6B0|uniprotkb:Q6ZN24|uniprotkb:Q7LDY6|uniprotkb:Q7LDZ1|uniprotkb:Q96IG5|uniprotkb:Q96SQ6|uniprotkb:Q9BUR8|uniprotkb:Q9NPT1|intact:EBI-10967552|uniprotkb:B3KVH1|uniprotkb:M0QY21 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:wiz_human(display_long)|uniprotkb:WIZ(gene name)|psi-mi:WIZ(display_short)|uniprotkb:ZNF803(gene name synonym)|uniprotkb:Widely-interspaced zinc finger-containing protein(gene name synonym)|uniprotkb:Zinc finger protein 803(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_067064.2|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|refseq:NP_001317324.1|interpro:IPR036236|mint:O95785|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0010571"(positive regulation of nuclear cell cycle DNA replication)|go:"GO:0030496"(midbody)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990226"(histone methyltransferase binding) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:FMQwuMDlEC/Zdsnayyl7kpQSmyg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6NYC8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2557469|uniprotkb:A8MSS7|uniprotkb:Q8NDQ4|uniprotkb:A2AIB8|uniprotkb:Q9BRL9|uniprotkb:B7ZCV7|uniprotkb:Q8TF52|uniprotkb:Q6ZUJ6|uniprotkb:Q68CK8|uniprotkb:A4UBI6|uniprotkb:A6NCB7|uniprotkb:A2AB01|uniprotkb:Q6ZTV1|ensembl:ENSP00000274853|ensembl:ENSP00000373067|ensembl:ENSP00000382150|ensembl:ENSP00000383400|ensembl:ENSP00000388790|ensembl:ENSP00000400129|ensembl:ENSP00000400990|ensembl:ENSP00000404066|ensembl:ENSP00000405234|ensembl:ENSP00000412456|ensembl:ENSP00000413596|ensembl:ENSP00000416648|ensembl:ENSP00000480270 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ppr18_human(display_long)|uniprotkb:PPP1R18(gene name)|psi-mi:PPP1R18(display_short)|uniprotkb:HKMT1098(gene name synonym)|uniprotkb:KIAA1949(gene name synonym)|uniprotkb:Protein phosphatase 1 F-actin cytoskeleton-targeting subunit(gene name synonym)|uniprotkb:Protein phosphatase 1 regulatory subunit 18(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001128342.1|refseq:NP_597728.1|ensembl:ENSG00000146112(gene)|ensembl:ENSG00000206485(gene)|ensembl:ENSG00000225060(gene)|ensembl:ENSG00000229998(gene)|ensembl:ENST00000274853(transcript)|ensembl:ENST00000383573(transcript)|ensembl:ENST00000399199(transcript)|ensembl:ENST00000400554(transcript)|ensembl:ENST00000437121(transcript)|ensembl:ENST00000438815(transcript)|ensembl:ENST00000438945(transcript)|ensembl:ENSG00000230341(gene)|ensembl:ENST00000443517(transcript)|ensembl:ENSG00000234000(gene)|ensembl:ENST00000444206(transcript)|ensembl:ENST00000449705(transcript)|ensembl:ENST00000451544(transcript)|ensembl:ENST00000455935(transcript)|ensembl:ENST00000615527(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005856"(cytoskeleton)|go:"GO:0019902"(phosphatase binding)|interpro:IPR025903|interpro:IPR025907|interpro:IPR026671|mint:Q6NYC8 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:63zpNZuwQb7VD0pOrr6yaRpPNmA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9ULJ8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2515561|ensembl:ENSP00000344524|ensembl:ENSP00000398870|uniprotkb:O76059|uniprotkb:Q9NXT2|uniprotkb:F8W7J9|uniprotkb:A1L494|uniprotkb:B2RWQ1|uniprotkb:E9PCA0|uniprotkb:E9PCK6|uniprotkb:E9PDX1|intact:EBI-11031420 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:neb1_human(display_long)|uniprotkb:PPP1R9A(gene name)|psi-mi:PPP1R9A(display_short)|uniprotkb:KIAA1222(gene name synonym)|uniprotkb:Neurabin-I(gene name synonym)|uniprotkb:Neural tissue-specific F-actin-binding protein I(gene name synonym)|uniprotkb:Protein phosphatase 1 regulatory subunit 9A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000158528(gene)|ensembl:ENST00000340694(transcript)|ensembl:ENST00000433881(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007015"(actin filament organization)|go:"GO:0007568"(aging)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008157"(protein phosphatase 1 binding)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0019722"(calcium-mediated signaling)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030175"(filopodium)|go:"GO:0030425"(dendrite)|go:"GO:0030833"(regulation of actin filament polymerization)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031175"(neuron projection development)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0044326"(dendritic spine neck)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0051015"(actin filament binding)|go:"GO:0051020"(GTPase binding)|go:"GO:0051489"(regulation of filopodium assembly)|go:"GO:0051497"(negative regulation of stress fiber assembly)|go:"GO:0051823"(regulation of synapse structural plasticity)|go:"GO:0051963"(regulation of synapse assembly)|go:"GO:0060079"(excitatory postsynaptic potential)|go:"GO:0060999"(positive regulation of dendritic spine development)|go:"GO:0061001"(regulation of dendritic spine morphogenesis)|go:"GO:0097237"(cellular response to toxic substance)|go:"GO:0098871"(postsynaptic actin cytoskeleton)|go:"GO:0098974"(postsynaptic actin cytoskeleton organization)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1900272"(negative regulation of long-term synaptic potentiation)|go:"GO:1900454"(positive regulation of long-term synaptic depression)|go:"GO:1904049"(negative regulation of spontaneous neurotransmitter secretion)|go:"GO:1990761"(growth cone lamellipodium)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR001660(Sterile alpha motif SAM)|go:"GO:0019901"(protein kinase binding)|interpro:IPR029994|interpro:IPR036034|interpro:IPR040645|interpro:IPR043446|mint:Q9ULJ8|rcsb pdb:1WF8|interpro:IPR013761(Sterile alpha motif-type)|refseq:XP_016867892.1|refseq:XP_016867894.1|refseq:XP_016867895.1|refseq:NP_001159632.1|refseq:NP_001159633.1|refseq:NP_001159634.1|refseq:NP_060120.2|refseq:NP_001159635.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:WoKc99IJ5LLtXFS0vmzxpg8CgHc9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q69YQ0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351113|uniprotkb:O15081|intact:EBI-10965349|uniprotkb:B7Z758|uniprotkb:F5H1H6|ensembl:ENSP00000325785|ensembl:ENSP00000393363|ensembl:ENSP00000439633 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cytsa_human(display_long)|uniprotkb:SPECC1L(gene name)|psi-mi:SPECC1L(display_short)|uniprotkb:Renal carcinoma antigen NY-REN-22(gene name synonym)|uniprotkb:CYTSA(gene name synonym)|uniprotkb:KIAA0376(gene name synonym)|uniprotkb:Sperm antigen with calponin homology and coiled-coil domains 1-like(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_056145.4|refseq:NP_001241661.2|dip:DIP-33173N|ensembl:ENSG00000100014(gene)|ensembl:ENST00000314328(transcript)|ensembl:ENST00000437398(transcript)|ensembl:ENST00000541492(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005819"(spindle)|go:"GO:0005921"(gap junction)|go:"GO:0007049"(cell cycle)|go:"GO:0007155"(cell adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0031941"(filamentous actin)|go:"GO:0051301"(cell division)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR036872|interpro:IPR040166|mint:Q69YQ0 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iYg2RCRo/dMtmwyppU7ywkhkolI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H6R7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-346906|uniprotkb:D6W532|uniprotkb:Q8IYK0|uniprotkb:Q9HBP5|ensembl:ENSP00000295148 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:wdcp_human(display_long)|uniprotkb:WDCP(gene name)|psi-mi:WDCP(display_short)|uniprotkb:C2orf44(gene name synonym)|uniprotkb:PP384(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001135791.1|refseq:NP_079479.1|ensembl:ENSG00000163026(gene)|ensembl:ENST00000295148(transcript)|go:"GO:0019900"(kinase binding)|go:"GO:0051259"(protein complex oligomerization)|interpro:IPR028041|mint:Q9H6R7 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qT8Zfifj+1U5HvWjtXjKTiVj1OA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P02511 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-739060|uniprotkb:O43416|uniprotkb:B0YIX0|uniprotkb:Q9UC37|uniprotkb:Q9UC38|uniprotkb:Q9UC39|uniprotkb:Q9UC40|uniprotkb:Q9UC41|ensembl:ENSP00000227251|ensembl:ENSP00000433560|ensembl:ENSP00000434247|ensembl:ENSP00000435931|ensembl:ENSP00000436051|ensembl:ENSP00000436089|ensembl:ENSP00000437149|ensembl:ENSP00000483554|ensembl:ENSP00000498735|ensembl:ENSP00000499082 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cryab_human(display_long)|uniprotkb:CRYAB(gene name)|psi-mi:CRYAB(display_short)|uniprotkb:CRYA2(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-27(gene name synonym)|uniprotkb:"Alpha(B)-crystallin"(gene name synonym)|uniprotkb:Rosenthal fiber component(gene name synonym)|uniprotkb:Heat shock protein beta-5(gene name synonym)|uniprotkb:HSPB5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000109846(gene)|ensembl:ENST00000227251(transcript)|ensembl:ENST00000526180(transcript)|ensembl:ENST00000527899(transcript)|ensembl:ENST00000527950(transcript)|ensembl:ENST00000531198(transcript)|ensembl:ENST00000533475(transcript)|ensembl:ENST00000533879(transcript)|ensembl:ENST00000616970(transcript)|ensembl:ENST00000650687(transcript)|ensembl:ENST00000651164(transcript)|go:"GO:0001540"(amyloid-beta binding)|go:"GO:0001666"(response to hypoxia)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006457"(protein folding)|go:"GO:0006936"(muscle contraction)|go:"GO:0007021"(tubulin complex assembly)|go:"GO:0007517"(muscle organ development)|go:"GO:0008017"(microtubule binding)|go:"GO:0009986"(cell surface)|go:"GO:0010259"(multicellular organism aging)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0010941"(regulation of cell death)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0030018"(Z disc)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0030424"(axon)|go:"GO:0031109"(microtubule polymerization or depolymerization)|go:"GO:0031333"(negative regulation of protein-containing complex assembly)|go:"GO:0031430"(M band)|go:"GO:0032355"(response to estradiol)|go:"GO:0032387"(negative regulation of intracellular transport)|go:"GO:0032432"(actin filament bundle)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042542"(response to hydrogen peroxide)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043154"(negative regulation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051403"(stress-activated MAPK cascade)|go:"GO:0060561"(apoptotic process involved in morphogenesis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0071480"(cellular response to gamma radiation)|go:"GO:0097060"(synaptic membrane)|go:"GO:0097512"(cardiac myofibril)|go:"GO:1905907"(negative regulation of amyloid fibril formation)|go:"GO:2000378"(negative regulation of reactive oxygen species metabolic process)|interpro:IPR001436(Alpha crystallin/Heat shock protein)|interpro:IPR002068(Heat shock protein Hsp20)|interpro:IPR003090(Alpha-crystallin, N-terminal)|interpro:IPR008978(HSP20-like chaperone)|interpro:IPR037882|mint:P02511|rcsb pdb:2KLR|rcsb pdb:2N0K|rcsb pdb:2WJ7|rcsb pdb:2Y1Y|rcsb pdb:2Y1Z|rcsb pdb:2YGD|rcsb pdb:3J07|rcsb pdb:2Y22|rcsb pdb:3L1G|rcsb pdb:3SGM|rcsb pdb:3SGN|rcsb pdb:3SGO|rcsb pdb:3SGP|rcsb pdb:3SGR|rcsb pdb:3SGS|rcsb pdb:4M5S|rcsb pdb:4M5T|rcsb pdb:5VVV|rcsb pdb:6BP9|reactome:R-HSA-3371571|refseq:NP_001876.1|refseq:XP_011540910.1|refseq:NP_001276736.1|refseq:NP_001276737.1|dip:DIP-35017N intact:EBI-27044482(see-also) - crc64:AE08BED46B7849CB figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:495Z42oQhkAUdADrAEOKIC5oICo9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P25398 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354542|uniprotkb:Q76M58|ensembl:ENSP00000230050 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs12_human(display_long)|uniprotkb:RPS12(gene name)|psi-mi:RPS12(display_short)|uniprotkb:Small ribosomal subunit protein eS12(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001007.2|ensembl:ENSG00000112306(gene)|ensembl:ENST00000230050(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|interpro:IPR000530(Ribosomal protein S12e)|interpro:IPR004038(Ribosomal protein L7Ae/L30e/S12e/Gadd45)|interpro:IPR029064|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72702|reactome:R-HSA-72695|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:80AIouzSdCvnLUSA7qsMp6naZ3g9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P09382 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1048875|uniprotkb:B2R5E8|uniprotkb:Q9UDK5|ensembl:ENSP00000215909 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:leg1_human(display_long)|uniprotkb:Lectin galactoside-binding soluble 1(gene name synonym)|uniprotkb:Beta-galactoside-binding lectin L-14-I(gene name synonym)|uniprotkb:S-Lac lectin 1(gene name synonym)|uniprotkb:Galaptin(gene name synonym)|uniprotkb:14 kDa lectin(gene name synonym)|uniprotkb:HPL(gene name synonym)|uniprotkb:HBL(gene name synonym)|uniprotkb:Putative MAPK-activating protein PM12(gene name synonym)|uniprotkb:LGALS1(gene name)|psi-mi:LGALS1(display_short)|uniprotkb:Lactose-binding lectin 1(gene name synonym)|uniprotkb:14 kDa laminin-binding protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002296.1|ensembl:ENST00000215909(transcript)|go:"GO:0002317"(plasma cell differentiation)|go:"GO:0003723"(RNA binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005829"(cytosol)|go:"GO:0006915"(apoptotic process)|go:"GO:0009986"(cell surface)|go:"GO:0010812"(negative regulation of cell-substrate adhesion)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0030246"(carbohydrate binding)|go:"GO:0030395"(lactose binding)|ensembl:ENSG00000100097(gene)|go:"GO:0071333"(cellular response to glucose stimulus)|go:"GO:0071407"(cellular response to organic cyclic compound)|interpro:IPR001079(Galectin, galactose-binding lectin)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR044156|mint:P09382|rcsb pdb:1GZW|rcsb pdb:1W6M|rcsb pdb:1W6N|rcsb pdb:1W6O|rcsb pdb:1W6P|rcsb pdb:1W6Q|rcsb pdb:2KM2|rcsb pdb:2ZKN|rcsb pdb:3OY8|rcsb pdb:3OYW|rcsb pdb:3T2T|rcsb pdb:3W58|rcsb pdb:3W59|rcsb pdb:4Q1P|go:"GO:0031295"(T cell costimulation)|go:"GO:0034120"(positive regulation of erythrocyte aggregation)|go:"GO:0035900"(response to isolation stress)|go:"GO:0042493"|go:"GO:0042802"(identical protein binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043236"(laminin binding)|go:"GO:0045445"(myoblast differentiation)|go:"GO:0046598"(positive regulation of viral entry into host cell)|go:"GO:0048678"(response to axon injury)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070062"(extracellular exosome)|rcsb pdb:4Q1R|rcsb pdb:4Q26|rcsb pdb:4Q27|rcsb pdb:4Q2F|rcsb pdb:4XBL|rcsb pdb:4Y1U|rcsb pdb:4Y1V|rcsb pdb:4Y1X|rcsb pdb:4Y1Y|rcsb pdb:4Y1Z|rcsb pdb:4Y20|rcsb pdb:4Y22|rcsb pdb:4Y24|rcsb pdb:5MWT|rcsb pdb:5MWX|rcsb pdb:6B94|rcsb pdb:6F83|rcsb pdb:6M5Y|reactome:R-HSA-381426|reactome:R-HSA-8957275|dip:DIP-46153N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Sov3RfY2NOjdjuvdFlEd/vaNTMY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15143 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1044647|uniprotkb:Q9BU00|ensembl:ENSP00000388802|ensembl:ENSP00000389631|ensembl:ENSP00000398110|ensembl:ENSP00000403211|ensembl:ENSP00000410238|ensembl:ENSP00000494033|ensembl:ENSP00000496599 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arc1b_human(display_long)|uniprotkb:Arp2/3 complex 41 kDa subunit(gene name synonym)|uniprotkb:p41-ARC(gene name synonym)|uniprotkb:ARPC1B(gene name)|psi-mi:ARPC1B(display_short)|uniprotkb:ARC41(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005711.1|ensembl:ENSG00000130429(gene)|ensembl:ENST00000427217(transcript)|ensembl:ENST00000431816(transcript)|ensembl:ENST00000451682(transcript)|ensembl:ENST00000455009(transcript)|ensembl:ENST00000458033(transcript)|ensembl:ENST00000645391(transcript)|ensembl:ENST00000646101(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0032355"(response to estradiol)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0036284"(tubulobulbar complex)|go:"GO:0043627"(response to estrogen)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR017383(Actin-related protein 2/3 complex, subunit 1)|interpro:IPR030141|interpro:IPR036322|mint:O15143|rcsb pdb:6UHC|rcsb pdb:6YW6|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-9664422|refseq:XP_006715888.1|refseq:XP_006715889.1|dip:DIP-41254N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:sx7R5hirSnqoXyOlW6ltrpNjUIs9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68371 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351356|uniprotkb:P05217|uniprotkb:A2BFA2|ensembl:ENSP00000341289 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb4b_human(display_long)|uniprotkb:TUBB4B(gene name)|psi-mi:TUBB4B(display_short)|uniprotkb:TUBB2C(gene name synonym)|uniprotkb:Tubulin beta-2 chain(gene name synonym)|uniprotkb:Tubulin beta-2C chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006079.1|ensembl:ENSG00000188229(gene)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005874"(microtubule)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0042267"(natural killer cell mediated cytotoxicity)|go:"GO:0042288"(MHC class I protein binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903561"(extracellular vesicle)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|go:"GO:0005200"(structural constituent of cytoskeleton)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P68371|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-2565942|reactome:R-HSA-3371497|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620912|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6798695|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8854518|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|ensembl:ENST00000340384(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0003725"(double-stranded RNA binding) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4LwMs7E7eILMjB9Z/1bstAp22CY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P39019 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354451|ensembl:ENSP00000469228|ensembl:ENSP00000470004|ensembl:ENSP00000470972 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs19_human(display_long)|uniprotkb:RPS19(gene name)|psi-mi:RPS19(display_short)|uniprotkb:Small ribosomal subunit protein eS19(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001013.1|ensembl:ENSG00000105372(gene)|ensembl:ENST00000593863(transcript)|ensembl:ENST00000598742(transcript)|go:"GO:0000028"(ribosomal small subunit assembly)|go:"GO:0000462"("maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0002548"(monocyte chemotaxis)|go:"GO:0003723"(RNA binding)|ensembl:ENST00000600467(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0007000"(nucleolus organization)|go:"GO:0009991"(response to extracellular stimulus)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0017134"(fibroblast growth factor binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0030490"(maturation of SSU-rRNA)|go:"GO:0031640"(killing of cells of another organism)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042802"(identical protein binding)|go:"GO:0050829"(defense response to Gram-negative bacterium)|go:"GO:0051272"(positive regulation of cellular component movement)|go:"GO:0060265"(positive regulation of respiratory burst involved in inflammatory response)|go:"GO:0060266"(negative regulation of respiratory burst involved in inflammatory response)|go:"GO:0061844"(antimicrobial humoral immune response mediated by antimicrobial peptide)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001266(Ribosomal protein S19e)|interpro:IPR018277|interpro:IPR036388|interpro:IPR036390|mint:P39019|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_001308412.1|refseq:NP_001308413.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3YqdJJJG+2nqoBf3PLu1fs7pVkY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96AG4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358888|uniprotkb:Q9P189|uniprotkb:D3DTX8|ensembl:ENSP00000225972|uniprotkb:B2RE83 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lrc59_human(display_long)|uniprotkb:LRRC59(gene name)|psi-mi:LRRC59(display_short)|uniprotkb:Ribosome-binding protein p34(gene name synonym)|uniprotkb:PRO1855(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_060979.2|ensembl:ENSG00000108829(gene)|ensembl:ENST00000225972(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0007165"(signal transduction)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0042645"(mitochondrial nucleoid)|go:"GO:0045296"(cadherin binding)|go:"GO:0046579"(positive regulation of Ras protein signal transduction)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR003591(Leucine-rich repeat, typical subtype)|interpro:IPR032675|mint:Q96AG4 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:gAtWed9Jv69oHdkEFgpWGFnvcWE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P16278 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-989638|uniprotkb:B7Z6B0|intact:EBI-1018741|uniprotkb:P16279|ensembl:ENSP00000306920|ensembl:ENSP00000382333|uniprotkb:B2R7H8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:bgal_human(display_long)|uniprotkb:ELNR1(gene name synonym)|uniprotkb:Acid beta-galactosidase(gene name synonym)|uniprotkb:Elastin receptor 1(gene name synonym)|uniprotkb:GLB1(gene name)|psi-mi:GLB1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000395.2|refseq:NP_001073279.1|refseq:NP_001129074.1|ensembl:ENSG00000170266(gene)|ensembl:ENST00000399402(transcript)|go:"GO:0004565"(beta-galactosidase activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005737"(cytoplasm)|go:"GO:0005773"(vacuole)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0006027"(glycosaminoglycan catabolic process)|go:"GO:0006687"(glycosphingolipid metabolic process)|go:"GO:0016936"(galactoside binding)|go:"GO:0019388"(galactose catabolic process)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0042340"(keratan sulfate catabolic process)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044262"(cellular carbohydrate metabolic process)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051413"(response to cortisone)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904016"(response to Thyroglobulin triiodothyronine)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR001944(Glycoside hydrolase, family 35)|interpro:IPR008979(Galactose-binding like)|interpro:IPR017853(Glycoside hydrolase, catalytic core)|interpro:IPR019801|interpro:IPR025300|interpro:IPR026283|interpro:IPR031330|mint:P16278|rcsb pdb:3THC|rcsb pdb:3THD|rcsb pdb:3WEZ|rcsb pdb:3WF0|rcsb pdb:3WF1|rcsb pdb:3WF2|rcsb pdb:3WF3|rcsb pdb:3WF4|reactome:R-HSA-1660662|reactome:R-HSA-2022857|reactome:R-HSA-2024096|reactome:R-HSA-2206308|reactome:R-HSA-4085001|ensembl:ENST00000307363(transcript)|reactome:R-HSA-4341670|reactome:R-HSA-6798695|refseq:NP_001303969.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:L/REQ2uBBZimHZnDpo3URvdGTdA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P05023 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358778|uniprotkb:Q16689|uniprotkb:Q6LDM4|uniprotkb:Q9UJ20|uniprotkb:Q9UJ21|uniprotkb:B2RBR6|uniprotkb:Q9UCN1|ensembl:ENSP00000295598|uniprotkb:B7Z3U6|uniprotkb:B7Z2T5|uniprotkb:F5H3A1|intact:EBI-10963133 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:at1a1_human(display_long)|uniprotkb:ATP1A1(gene name)|psi-mi:ATP1A1(display_short)|uniprotkb:Sodium pump subunit alpha-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000692.2|refseq:NP_001153705.1|refseq:NP_001153706.1|go:"GO:0016328"(lateral plasma membrane)|go:"GO:0016791"(phosphatase activity)|ensembl:ENSG00000163399(gene)|ensembl:ENST00000295598(transcript)|go:"GO:0002026"(regulation of the force of heart contraction)|go:"GO:0002028"(regulation of sodium ion transport)|go:"GO:0005391"("P-type sodium:potassium-exchanging transporter activity")|go:"GO:0005524"(ATP binding)|go:"GO:0005768"(endosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005890"("sodium:potassium-exchanging ATPase complex")|go:"GO:0005901"(caveola)|go:"GO:0006883"(cellular sodium ion homeostasis)|go:"GO:0008217"(regulation of blood pressure)|go:"GO:0014069"(postsynaptic density)|go:"GO:0014704"(intercalated disc)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0030424"(axon)|go:"GO:0030506"(ankyrin binding)|go:"GO:0030955"(potassium ion binding)|go:"GO:0031090"(organelle membrane)|go:"GO:0031402"(sodium ion binding)|go:"GO:0031947"(negative regulation of glucocorticoid biosynthetic process)|go:"GO:0032991"(protein-containing complex)|go:"GO:0036126"(sperm flagellum)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071383"(cellular response to steroid hormone stimulus)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086009"(membrane repolarization)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086064"(cell communication by electrical coupling involved in cardiac conduction)|go:"GO:1902600"(proton transmembrane transport)|go:"GO:0036376"(sodium ion export across plasma membrane)|go:"GO:0042383"(sarcolemma)|go:"GO:0042470"(melanosome)|go:"GO:0042493"|go:"GO:0043531"(ADP binding)|go:"GO:0043548"(phosphatidylinositol 3-kinase binding)|go:"GO:0045121"(membrane raft)|go:"GO:0045822"(negative regulation of heart contraction)|go:"GO:0045823"(positive regulation of heart contraction)|go:"GO:0045989"(positive regulation of striated muscle contraction)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0051087"(chaperone binding)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060081"(membrane hyperpolarization)|go:"GO:0060342"(photoreceptor inner segment membrane)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903416"(response to glycoside)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1990239"(steroid hormone binding)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR001757(ATPase, P-type, K/Mg/Cd/Cu/Zn/Na/Ca/Na/H-transporter)|interpro:IPR004014(ATPase, P-type cation-transporter, N-terminal)|interpro:IPR005775(ATPase, P-type cation exchange, alpha subunit, eukaryotic)|interpro:IPR008250(E1-E2 ATPase-associated region)|interpro:IPR018303|interpro:IPR023214|interpro:IPR023298|interpro:IPR023299|interpro:IPR036412|interpro:IPR044492|mint:P05023|reactome:R-HSA-5578775|reactome:R-HSA-936837|reactome:R-HSA-9679191|interpro:IPR006068(ATPase, P-type cation-transporter, C-terminal)|refseq:XP_016856849.1|refseq:XP_016856850.1|dip:DIP-38196N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uZf9iX38kcZh0Q+apz8uB17EtJw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q07065 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-702400|uniprotkb:Q504S5|uniprotkb:Q53ES6|ensembl:ENSP00000367265 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ckap4_human(display_long)|uniprotkb:CKAP4(gene name)|psi-mi:CKAP4(display_short)|uniprotkb:63-kDa cytoskeleton-linking membrane protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006816.2|ensembl:ENSG00000136026(gene)|ensembl:ENST00000378026(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005811"(lipid droplet)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0035577"(azurophil granule membrane)|go:"GO:0035579"(specific granule membrane)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042599"(lamellar body)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0070062"(extracellular exosome)|interpro:IPR028428|mint:Q07065|reactome:R-HSA-381426|reactome:R-HSA-5683826|reactome:R-HSA-6798695|reactome:R-HSA-8957275|reactome:R-HSA-9696264|reactome:R-HSA-9696270 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Q1hrxqh5k4Myf7J0To8Ecm/xxs49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13547 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-301834|uniprotkb:Q92534|ensembl:ENSP00000362649 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hdac1_human(display_long)|uniprotkb:HDAC1(gene name)|psi-mi:HDAC1(display_short)|uniprotkb:RPD3L1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000116478(gene)|ensembl:ENST00000373548(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000792"(heterochromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000979"(RNA polymerase II core promoter sequence-specific DNA binding)|go:"GO:0001046"(core promoter sequence-specific DNA binding)|go:"GO:0001975"(response to amphetamine)|go:"GO:0002039"(p53 binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0004407"(histone deacetylase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006325"(chromatin organization)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006346"(DNA methylation-dependent heterochromatin assembly)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006476"(protein deacetylation)|go:"GO:0007492"(endoderm development)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0009913"(epidermal cell differentiation)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016575"(histone deacetylation)|go:"GO:0016580"(Sin3 complex)|go:"GO:0016581"(NuRD complex)|go:"GO:0019899"(enzyme binding)|go:"GO:0021766"(hippocampus development)|go:"GO:0030182"(neuron differentiation)|go:"GO:0031000"(response to caffeine)|go:"GO:0032041"("NAD-dependent histone deacetylase activity (H3-K14 specific)")|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032732"(positive regulation of interleukin-1 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033558"(protein deacetylase activity)|go:"GO:0034599"(cellular response to oxidative stress)|go:"GO:0035851"(Krueppel-associated box domain binding)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0042493"|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042733"(embryonic digit morphogenesis)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043044"|go:"GO:0019213"(deacetylase activity)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070888"(E-box binding)|go:"GO:0070932"(histone H3 deacetylation)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:0071356"(cellular response to tumor necrosis factor)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1900221"(regulation of amyloid-beta clearance)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:2000273"(positive regulation of signaling receptor activity)|go:"GO:2000343"("positive regulation of chemokine (C-X-C motif) ligand 2 production")|go:"GO:2000676"(positive regulation of type B pancreatic cell apoptotic process)|go:"GO:2000757"(negative regulation of peptidyl-lysine acetylation)|go:"GO:2001243"(negative regulation of intrinsic apoptotic signaling pathway)|interpro:IPR000286(Histone deacetylase superfamily)|interpro:IPR003084(Histone deacetylase)|interpro:IPR023696|interpro:IPR023801|interpro:IPR037138|mint:Q13547|rcsb pdb:1TYI|rcsb pdb:4BKX|rcsb pdb:5ICN|rcsb pdb:6Z2J|rcsb pdb:6Z2K|rcsb pdb:7AO8|rcsb pdb:7AO9|rcsb pdb:7AOA|reactome:R-HSA-1362277|reactome:R-HSA-1362300|reactome:R-HSA-1538133|reactome:R-HSA-193670|reactome:R-HSA-201722|reactome:R-HSA-2122947|reactome:R-HSA-2173795|reactome:R-HSA-2173796|reactome:R-HSA-2644606|reactome:R-HSA-2894862|reactome:R-HSA-3214815|reactome:R-HSA-350054|reactome:R-HSA-3769402|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-4551638|reactome:R-HSA-4641265|reactome:R-HSA-6804758|reactome:R-HSA-69205|reactome:R-HSA-73762|reactome:R-HSA-8936459|reactome:R-HSA-8943724|reactome:R-HSA-9018519|reactome:R-HSA-9022538|reactome:R-HSA-9022692|go:"GO:0017053"(transcription repressor complex)|go:"GO:0043066"(negative regulation of apoptotic process)|reactome:R-HSA-9022699|reactome:R-HSA-9022702|reactome:R-HSA-9615017|reactome:R-HSA-9679191|reactome:R-HSA-983231|go:"GO:0043524"(negative regulation of neuron apoptotic process)|go:"GO:0043922"(negative regulation by host of viral transcription)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046676"(negative regulation of insulin secretion)|go:"GO:0047485"(protein N-terminus binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0052548"(regulation of endopeptidase activity)|go:"GO:0055093"(response to hyperoxia)|go:"GO:0060766"(negative regulation of androgen receptor signaling pathway)|go:"GO:0060789"(hair follicle placode formation)|go:"GO:0061029"(eyelid development in camera-type eye)|go:"GO:0061198"(fungiform papilla formation)|go:"GO:0043124"(negative regulation of I-kappaB kinase/NF-kappaB signaling)|refseq:NP_004955.2|dip:DIP-24184N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:RP+yIBWH55NgoPTY1nKXqeJL/xY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6S8J3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-4289913|uniprotkb:Q6S8J4|uniprotkb:Q6S8J8|uniprotkb:Q6S8J5|ensembl:ENSP00000439189|ensembl:ENSP00000507284 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:potee_human(display_long)|uniprotkb:POTEE(gene name)|psi-mi:POTEE(display_short)|uniprotkb:A26C1A(gene name synonym)|uniprotkb:POTE2(gene name synonym)|uniprotkb:ANKRD26-like family C member 1A(gene name synonym)|uniprotkb:Prostate, ovary, testis-expressed protein on chromosome 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000188219(gene)|ensembl:ENST00000356920(transcript)|ensembl:ENST00000683005(transcript)|go:"GO:0001895"(retina homeostasis)|go:"GO:0005615"(extracellular space)|go:"GO:0021762"(substantia nigra development)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|interpro:IPR002110(Ankyrin)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020683|interpro:IPR036770|interpro:IPR039497|interpro:IPR043129|reactome:R-HSA-9035034|interpro:IPR020902|refseq:NP_001077007.1|refseq:XP_016859650.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LMuv4bmAG2/uPyH5LR9q+ickvWI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46783 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354442|uniprotkb:Q5TZC0|uniprotkb:B2R4E3|ensembl:ENSP00000481646|ensembl:ENSP00000494190|ensembl:ENSP00000494440|ensembl:ENSP00000497917 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs10_human(display_long)|uniprotkb:RPS10(gene name)|psi-mi:RPS10(display_short)|uniprotkb:Small ribosomal subunit protein eS10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001005.1|refseq:NP_001190174.1|refseq:NP_001191020.1|ensembl:ENSG00000124614(gene)|ensembl:ENST00000464218(transcript)|ensembl:ENST00000467531(transcript)|ensembl:ENST00000621356(transcript)|ensembl:ENST00000648437(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|interpro:IPR005326(Plectin/S10, N-terminal)|rcsb pdb:6G51|interpro:IPR036388|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|interpro:IPR037447|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|mint:P46783|rcsb pdb:4UG0|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:4V6X|rcsb pdb:6ZUO|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|rcsb pdb:5T2C|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GWUAJh7s0w/ar/SOpx0hiIJOr2c9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KRX5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044183|ensembl:ENSP00000462203 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3krx5_human(display_long)|uniprotkb:RPL17(gene name)|psi-mi:RPL17(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000265681(gene)|ensembl:ENST00000583637(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0006412"(translation)|go:"GO:0015934"(large ribosomal subunit)|interpro:IPR001063(Ribosomal protein L22/L17)|interpro:IPR018260|interpro:IPR036394|interpro:IPR005721(Ribosomal protein L22/L17, eukaryotic/archaeal) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:1AdD2EtesCPZ9VXQOU5UauzxscY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62701 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354303|uniprotkb:P12631|uniprotkb:P12750|uniprotkb:P27576|uniprotkb:Q14727|uniprotkb:P55831|uniprotkb:Q6IPY4|ensembl:ENSP00000362744 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs4x_human(display_long)|uniprotkb:RPS4X(gene name)|psi-mi:RPS4X(display_short)|uniprotkb:CCG2(gene name synonym)|uniprotkb:RPS4(gene name synonym)|uniprotkb:SCAR(gene name synonym)|uniprotkb:Single copy abundant mRNA protein(gene name synonym)|uniprotkb:SCR10(gene name synonym)|uniprotkb:Small ribosomal subunit protein eS4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000998.1|rcsb pdb:6OLI|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|ensembl:ENSG00000198034(gene)|ensembl:ENST00000316084(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005844"(polysome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0007275"(multicellular organism development)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0045202"(synapse)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000876(Ribosomal protein S4e)|interpro:IPR002942(RNA-binding S4)|interpro:IPR005824(KOW)|interpro:IPR013843(Ribosomal protein S4e, N-terminal)|interpro:IPR013845(Ribosomal protein S4e, central)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR018199|interpro:IPR032277|interpro:IPR036986|interpro:IPR038237|interpro:IPR041982|mint:P62701|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|go:"GO:0045727"(positive regulation of translation)|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2ZuLXqBSDkK0CtN3mnIDoFAR8yI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11940 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-81531|intact:EBI-28983164|ensembl:ENSP00000313007|ensembl:ENSP00000428749|ensembl:ENSP00000428840|ensembl:ENSP00000429119|ensembl:ENSP00000429790|ensembl:ENSP00000429892|ensembl:ENSP00000430012|uniprotkb:Q15097|uniprotkb:Q93004 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pabp1_human(display_long)|uniprotkb:PABPC1(gene name)|psi-mi:PABPC1(display_short)|uniprotkb:PAB1(gene name synonym)|uniprotkb:PABP1(gene name synonym)|uniprotkb:PABPC2(gene name synonym)|uniprotkb:PABP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR006515(Polyadenylate binding protein, human types 1, 2, 3, 4)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979|interpro:IPR036053|mint:P11940|rcsb pdb:1CVJ|rcsb pdb:1G9L|rcsb pdb:1JGN|rcsb pdb:1JH4|rcsb pdb:2K8G|rcsb pdb:2RQG|rcsb pdb:2RQH|rcsb pdb:2X04|rcsb pdb:3KTP|rcsb pdb:3KTR|rcsb pdb:3KUI|rcsb pdb:3KUJ|rcsb pdb:3KUR|rcsb pdb:3KUS|rcsb pdb:3KUT|rcsb pdb:3PKN|interpro:IPR003954(RNA recognition, region 1)|rcsb pdb:3PTH|rcsb pdb:4F02|rcsb pdb:4F25|rcsb pdb:4F26|ensembl:ENSG00000070756(gene)|ensembl:ENST00000318607(transcript)|ensembl:ENST00000520142(transcript)|ensembl:ENST00000520804(transcript)|ensembl:ENST00000521865(transcript)|ensembl:ENST00000522658(transcript)|ensembl:ENST00000522720(transcript)|ensembl:ENST00000523555(transcript)|go:"GO:0000184"(nuclear-transcribed mRNA catabolic process, nonsense-mediated decay)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0016020"(membrane)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0030027"(lamellipodium)|go:"GO:0005634"(nucleus)|go:"GO:0031047"(gene silencing by RNA)|go:"GO:0031252"(cell leading edge)|go:"GO:0005737"(cytoplasm)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0045070"(positive regulation of viral genome replication)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006378"(mRNA polyadenylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008143"("poly(A) binding")|go:"GO:0048255"(mRNA stabilization)|go:"GO:0008266"("poly(U) RNA binding")|go:"GO:0008494"(translation activator activity)|go:"GO:0060213"("positive regulation of nuclear-transcribed mRNA poly(A) tail shortening")|go:"GO:0070062"(extracellular exosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1900153"(positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000623"(negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR002004(Polyadenylate-binding protein/Hyperplastic disc protein)|rcsb pdb:5DX1|refseq:NP_002559.2|rcsb pdb:5DX8|rcsb pdb:5DXA|rcsb pdb:5LGP|rcsb pdb:5LGQ|rcsb pdb:5LGR|rcsb pdb:5LGS|reactome:R-HSA-156827|reactome:R-HSA-429947|reactome:R-HSA-450408|reactome:R-HSA-72649|reactome:R-HSA-9010553|reactome:R-HSA-975956|reactome:R-HSA-975957|ensembl:ENSP00000313007|ensembl:ENSP00000430012|ensembl:ENSP00000428749|ensembl:ENSP00000429119|ensembl:ENSP00000428840|ensembl:ENSP00000429790|ensembl:ENSP00000429892|refseq:XP_005250918.1|dip:DIP-31613N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XudTSPq2h9ckKAc48X88RVafPRU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q16875 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-764464|uniprotkb:Q5VX18|uniprotkb:O43622|uniprotkb:O75902|intact:EBI-2834088|uniprotkb:Q5VX19|uniprotkb:B7Z955|uniprotkb:Q5VX15|ensembl:ENSP00000369100 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f263_human(display_long)|uniprotkb:6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme(gene name synonym)|uniprotkb:iPFK-2(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-56(gene name synonym)|uniprotkb:PFKFB3(gene name)|psi-mi:PFKFB3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004557.1|refseq:NP_001269559.1|refseq:NP_001300992.1|dip:DIP-33964N|ensembl:ENSG00000170525(gene)|ensembl:ENST00000379775(transcript)|go:"GO:0003873"(6-phosphofructo-2-kinase activity)|go:"GO:0004331"(fructose-2,6-bisphosphate 2-phosphatase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006000"(fructose metabolic process)|go:"GO:0006003"(fructose 2,6-bisphosphate metabolic process)|go:"GO:0007420"(brain development)|interpro:IPR001345(Phosphoglycerate/bisphosphoglycerate mutase)|interpro:IPR003094(Fructose-2,6-bisphosphatase)|interpro:IPR013078(Phosphoglycerate mutase)|interpro:IPR027417|interpro:IPR029033|rcsb pdb:2AXN|rcsb pdb:2DWO|rcsb pdb:2DWP|rcsb pdb:2I1V|rcsb pdb:3QPU|rcsb pdb:3QPV|rcsb pdb:3QPW|rcsb pdb:4D4J|rcsb pdb:4D4K|rcsb pdb:4D4L|rcsb pdb:4D4M|rcsb pdb:4MA4|rcsb pdb:5AJV|rcsb pdb:5AJW|rcsb pdb:5AJX|rcsb pdb:5AJY|rcsb pdb:5AJZ|rcsb pdb:5AK0|rcsb pdb:6ETJ|rcsb pdb:6HVH|rcsb pdb:6HVI|rcsb pdb:6HVJ|rcsb pdb:6IBX|rcsb pdb:6IBY|rcsb pdb:6IBZ|rcsb pdb:6IC0|reactome:R-HSA-9634600|interpro:IPR013079(6-phosphofructo-2-kinase) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:BPxZYy35rU3GFHZ0+i9FpfTQh9s9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P05387 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352813|ensembl:ENSP00000322419|ensembl:ENSP00000431240|uniprotkb:Q6FG96 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rla2_human(display_long)|uniprotkb:RPLP2(gene name)|psi-mi:RPLP2(display_short)|uniprotkb:RPP2(gene name synonym)|uniprotkb:D11S2243E(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-44(gene name synonym)|uniprotkb:Large ribosomal subunit protein P2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000177600(gene)|ensembl:ENST00000321153(transcript)|ensembl:ENST00000530797(transcript)|go:"GO:0002182"(cytoplasmic translational elongation)|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-72689|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|interpro:IPR027534|interpro:IPR038716|interpro:IPR044076|mint:P05387|rcsb pdb:1S4J|rcsb pdb:2JDL|rcsb pdb:2LBF|rcsb pdb:2W1O|rcsb pdb:4BEH|rcsb pdb:4V6X|rcsb pdb:5DDZ|rcsb pdb:5GU4|go:"GO:0003735"(structural constituent of ribosome)|reactome:R-HSA-156827|reactome:R-HSA-156902|refseq:NP_000995.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IBI+x82JJYg66MPhGKw1/pI/bQA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:K7ELC2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21351501|ensembl:ENSP00000466010 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k7elc2_human(display_long)|uniprotkb:RPS15(gene name)|psi-mi:RPS15(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000115268(gene)|ensembl:ENST00000593052(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|interpro:IPR002222(Ribosomal protein S19/S15)|interpro:IPR005713(Ribosomal protein S15, eukaryotic/archaeal)|interpro:IPR020934|interpro:IPR023575|go:"GO:0003723"(RNA binding)|refseq:NP_001295155.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ojF8M6L9TAZbpoLsx23wauz3djs9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P32969 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358122|ensembl:ENSP00000346022|ensembl:ENSP00000400467|ensembl:ENSP00000494697 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl9_human(display_long)|uniprotkb:RPL9(gene name)|psi-mi:RPL9(display_short)|uniprotkb:RPL9P7(gene name)|psi-mi:RPL9P7(display_short)|uniprotkb:RPL9P8(gene name)|psi-mi:RPL9P8(display_short)|uniprotkb:RPL9P9(gene name)|psi-mi:RPL9P9(display_short)|uniprotkb:Large ribosomal subunit protein uL6(gene name synonym)|uniprotkb:OK/SW-cl.103(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000652.2|refseq:NP_001020092.1|ensembl:ENSG00000163682(gene)|ensembl:ENST00000295955(transcript)|ensembl:ENST00000449470(transcript)|ensembl:ENST00000645496(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|interpro:IPR000702(Ribosomal protein L6)|interpro:IPR002359(Ribosomal protein L6, conserved site-2)|interpro:IPR020040|interpro:IPR036789|mint:P32969|rcsb pdb:2CQL|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:v0thFydYo0aEqBblJoqQX8b7JCA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A0A075B7D9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27045706|ensembl:ENSP00000474522|ensembl:ENSP00000488803 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a0a075b7d9_human(display_long)|uniprotkb:TAF15(gene name)|psi-mi:TAF15(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000270647(gene)|ensembl:ENSG00000276833(gene)|ensembl:ENST00000603777(transcript)|ensembl:ENST00000633578(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR001876(Zinc finger, RanBP2-type)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034870|interpro:IPR034875|interpro:IPR035979|interpro:IPR036443 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:QP8A/3t9iZotETBjhCYzAHx520g9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P23396 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351193|uniprotkb:Q498B5|uniprotkb:Q8NI95|uniprotkb:B2R7N5|ensembl:ENSP00000433821|ensembl:ENSP00000434643|ensembl:ENSP00000436971|uniprotkb:J3KN86 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs3_human(display_long)|uniprotkb:RPS3(gene name)|psi-mi:RPS3(display_short)|uniprotkb:Small ribosomal subunit protein uS3(gene name synonym)|uniprotkb:OK/SW-cl.26(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000996.2|ensembl:ENSG00000149273(gene)|ensembl:ENST00000524851(transcript)|ensembl:ENST00000527446(transcript)|ensembl:ENST00000531188(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003677"(DNA binding)|go:"GO:0003684"(damaged DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0003906"("DNA-(apurinic or apyrimidinic site) endonuclease activity")|go:"GO:0004520"(endodeoxyribonuclease activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005743"(mitochondrial inner membrane)|go:"GO:0005759"(mitochondrial matrix)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005844"(polysome)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006281"(DNA repair)|go:"GO:0006412"(translation)|go:"GO:0006413"(translational initiation)|go:"GO:0006915"(apoptotic process)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0007059"(chromosome segregation)|go:"GO:0008017"(microtubule binding)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015631"(tubulin binding)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0019899"(enzyme binding)|go:"GO:0019900"(kinase binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031116"(positive regulation of microtubule polymerization)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0031397"(negative regulation of protein ubiquitination)|go:"GO:0032079"(positive regulation of endodeoxyribonuclease activity)|go:"GO:0032357"(oxidized purine DNA binding)|go:"GO:0032358"(oxidized pyrimidine DNA binding)|go:"GO:0032587"(ruffle membrane)|go:"GO:0032743"(positive regulation of interleukin-2 production)|go:"GO:0034614"(cellular response to reactive oxygen species)|go:"GO:0042104"(positive regulation of activated T cell proliferation)|go:"GO:0042769"(obsolete DNA damage response, detection of DNA damage)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043507"(positive regulation of JUN kinase activity)|go:"GO:0044390"(ubiquitin-like protein conjugating enzyme binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045738"(negative regulation of DNA repair)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0045739"(positive regulation of DNA repair)|go:"GO:0050862"(positive regulation of T cell receptor signaling pathway)|go:"GO:0051018"(protein kinase A binding)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051225"(spindle assembly)|go:"GO:0051301"(cell division)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:0051536"(iron-sulfur cluster binding)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0061481"(response to TNF agonist)|go:"GO:1902231"(positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage)|go:"GO:1902546"(positive regulation of DNA N-glycosylase activity)|go:"GO:1905053"(positive regulation of base-excision repair)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2001235"(positive regulation of apoptotic signaling pathway)|go:"GO:2001272"(positive regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001351(Ribosomal protein S3, C-terminal)|go:"GO:0070181"(small ribosomal subunit rRNA binding)|interpro:IPR004044(K Homology, type 2)|go:"GO:0070301"(cellular response to hydrogen peroxide)|interpro:IPR005703(Ribosomal protein S3, eukaryotic/archaeal)|go:"GO:0071159"(NF-kappaB complex)|interpro:IPR009019(K Homology, prokaryotic type)|interpro:IPR015946(K homology-like, alpha/beta)|go:"GO:0071356"(cellular response to tumor necrosis factor)|interpro:IPR018280|interpro:IPR036419|mint:P23396|rcsb pdb:1WH9|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|go:"GO:0072686"(mitotic spindle)|go:"GO:0097100"(supercoiled DNA binding)|rcsb pdb:6QZP|go:"GO:0140078"("class I DNA-(apurinic or apyrimidinic site) endonuclease activity")|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|refseq:NP_001243731.1|refseq:NP_001247436.1|refseq:NP_001247435.1|dip:DIP-33177N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fsDW18AMR3YyEEIhMVcngYRWkps9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46782 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350569|uniprotkb:Q96BN0|uniprotkb:B2R4T2|ensembl:ENSP00000196551|ensembl:ENSP00000470114|ensembl:ENSP00000472985 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs5_human(display_long)|uniprotkb:RPS5(gene name)|psi-mi:RPS5(display_short)|uniprotkb:Small ribosomal subunit protein uS7(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001000.2|rcsb pdb:6OLZ|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6Z6M|rcsb pdb:6XA1|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6Y0G|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:5FLX|rcsb pdb:6OLG|rcsb pdb:6OLI|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-72706|ensembl:ENSG00000083845(gene)|ensembl:ENST00000196551(transcript)|ensembl:ENST00000596046(transcript)|ensembl:ENST00000601521(transcript)|go:"GO:0000028"(ribosomal small subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0006413"(translational initiation)|go:"GO:0006450"(regulation of translational fidelity)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000235(Ribosomal protein S7)|interpro:IPR005716(Ribosomal protein S7, eukaryotic/archaeal)|interpro:IPR020606|interpro:IPR023798|interpro:IPR036823|mint:P46782|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|go:"GO:0003735"(structural constituent of ribosome)|rcsb pdb:5AJ0|reactome:R-HSA-72702 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:SoCJdf2InngZZtlz5qD1k5CEfEo9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14257 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356710|uniprotkb:A8MTG6|uniprotkb:Q53XN8|ensembl:ENSP00000378349|uniprotkb:F8WCY5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rcn2_human(display_long)|uniprotkb:RCN2(gene name)|psi-mi:RCN2(display_short)|uniprotkb:ERC55(gene name synonym)|uniprotkb:Calcium-binding protein ERC-55(gene name synonym)|uniprotkb:E6-binding protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002893.1|ensembl:ENST00000394885(transcript)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|ensembl:ENSG00000117906(gene)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR018247|mint:Q14257|refseq:NP_001258766.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:99ru/7eYUvZ5xdb+x4inbib3PP89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P52907 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355586|uniprotkb:Q53FQ6|uniprotkb:Q6FHD5|ensembl:ENSP00000263168 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:caza1_human(display_long)|uniprotkb:CAPZA1(gene name)|psi-mi:CAPZA1(display_short)|uniprotkb:CapZ alpha-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006126.1|ensembl:ENSG00000116489(gene)|ensembl:ENST00000263168(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0008290"(F-actin capping protein complex)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0034329"(cell junction assembly)|go:"GO:0045296"(cadherin binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071203"(WASH complex)|interpro:IPR002189(F-actin capping protein, alpha subunit)|interpro:IPR017865|interpro:IPR037282|interpro:IPR042276|interpro:IPR042489|mint:P52907|rcsb pdb:1MQ1|rcsb pdb:1MWN|reactome:R-HSA-2132295|reactome:R-HSA-3371497|reactome:R-HSA-6807878|reactome:R-HSA-6811436|reactome:R-HSA-879415|reactome:R-HSA-8950505|reactome:R-HSA-9662360|reactome:R-HSA-983231 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:97S4WPtjgt4MDLoptRhQ2yH8UNE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04844 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-719731|uniprotkb:Q5JYR6|uniprotkb:Q9UBE1|uniprotkb:Q6IBA5|uniprotkb:Q96E21|uniprotkb:Q9BUQ3|ensembl:ENSP00000237530 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rpn2_human(display_long)|uniprotkb:Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 63 kDa subunit(gene name synonym)|uniprotkb:Ribophorin-2(gene name synonym)|uniprotkb:Ribophorin II(gene name synonym)|uniprotkb:RIBIIR(gene name synonym)|uniprotkb:RPN2(gene name)|psi-mi:RPN2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001129243.1|refseq:NP_002942.2|ensembl:ENSG00000118705(gene)|ensembl:ENST00000237530(transcript)|go:"GO:0000421"(autophagosome membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0006464"(cellular protein modification process)|go:"GO:0006487"(protein N-linked glycosylation)|go:"GO:0007568"(aging)|go:"GO:0008250"(oligosaccharyltransferase complex)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016604"(nuclear body)|go:"GO:0018279"(protein N-linked glycosylation via asparagine)|go:"GO:0042493"|go:"GO:0043022"(ribosome binding)|interpro:IPR008814(Ribophorin II)|mint:P04844|rcsb pdb:6S7O|rcsb pdb:6S7T|reactome:R-HSA-1799339|reactome:R-HSA-446203|reactome:R-HSA-9694548|refseq:NP_001311234.1|refseq:NP_001311235.1|refseq:NP_001311228.1|refseq:NP_001311230.1|refseq:NP_001311231.1|refseq:NP_001311232.1|refseq:NP_001311233.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7bTuuEb3ykWQvkI/5DKpga48s/w9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P27635 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352398|uniprotkb:A3KQT0|uniprotkb:Q16470|uniprotkb:Q2HXT7|uniprotkb:Q53FH7|uniprotkb:Q6FGN8|uniprotkb:Q8TDA5|intact:EBI-3046680|uniprotkb:D3DWW6|ensembl:ENSP00000341730|ensembl:ENSP00000358832 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl10_human(display_long)|uniprotkb:RPL10(gene name)|psi-mi:RPL10(display_short)|uniprotkb:QM(gene name synonym)|uniprotkb:Protein QM(gene name synonym)|uniprotkb:Tumor suppressor QM(gene name synonym)|uniprotkb:Laminin receptor homolog(gene name synonym)|uniprotkb:DXS648E(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL16(gene name synonym)|uniprotkb:Ribosomal protein L10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001243506.2|refseq:NP_001243509.2|refseq:NP_001290553.1|refseq:NP_001290554.1|refseq:NP_001290555.1|ensembl:ENSG00000147403(gene)|ensembl:ENST00000344746(transcript)|ensembl:ENST00000369817(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0006417"(regulation of translation)|refseq:NP_006004.3|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0032991"(protein-containing complex)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0045182"(translation regulator activity)|go:"GO:1990403"(embryonic brain development)|interpro:IPR001197(Ribosomal protein L10e)|interpro:IPR016180(Ribosomal protein L10e/L16)|interpro:IPR018255|interpro:IPR036920|mint:P27635|rcsb pdb:2PA2|rcsb pdb:5AJ0|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6W6L|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|go:"GO:0016020"(membrane)|reactome:R-HSA-975957|dip:DIP-1133N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:wJnBcv39yvVz2CaZq8UKgxIpJeE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q0ZGT2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351705|uniprotkb:B4DPZ7|uniprotkb:A0PJ84|uniprotkb:Q0D2H2|uniprotkb:Q14CC2|uniprotkb:Q14CC3|uniprotkb:Q16081|uniprotkb:Q7Z2X0|uniprotkb:Q96DL0|uniprotkb:Q9Y2V1|intact:EBI-2555043|ensembl:ENSP00000333938 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nexn_human(display_long)|uniprotkb:F-actin-binding protein(gene name synonym)|uniprotkb:Nelin(gene name synonym)|uniprotkb:NEXN(gene name)|psi-mi:NEXN(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001165780.1|refseq:NP_653174.3|ensembl:ENSG00000162614(gene)|ensembl:ENST00000334785(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0007156"(homophilic cell adhesion via plasma membrane adhesion molecules)|go:"GO:0007411"(axon guidance)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030018"(Z disc)|go:"GO:0030334"(regulation of cell migration)|go:"GO:0030424"(axon)|go:"GO:0051015"(actin filament binding)|go:"GO:0051493"(regulation of cytoskeleton organization)|go:"GO:0070593"(dendrite self-avoidance)|go:"GO:0098632"(cell-cell adhesion mediator activity)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013098(Immunoglobulin I-set)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR043204|mint:Q0ZGT2|go:"GO:0008307"(structural constituent of muscle)|refseq:XP_005271380.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YtKRiGq1tjrPhdFzpS5TKVn3So89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P30050 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352743|uniprotkb:Q6PB27|uniprotkb:Q5VVV2|ensembl:ENSP00000354739 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl12_human(display_long)|uniprotkb:RPL12(gene name)|psi-mi:RPL12(display_short)|uniprotkb:Large ribosomal subunit protein uL11(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000967.1|ensembl:ENSG00000197958(gene)|ensembl:ENST00000361436(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015934"(large ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070180"(large ribosomal subunit rRNA binding)|interpro:IPR000911(Ribosomal protein L11)|interpro:IPR020783|interpro:IPR020784|interpro:IPR020785|interpro:IPR036769|interpro:IPR036796|mint:P30050|rcsb pdb:4V6X|rcsb pdb:5A8L|rcsb pdb:5AJ0|rcsb pdb:6OLG|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:TNPEtl60cILofaPzUznvZiw6D7E9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P60660 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-300817|uniprotkb:P16475|uniprotkb:P24572|uniprotkb:P24573|uniprotkb:Q12790|ensembl:ENSP00000446955|ensembl:ENSP00000448101|uniprotkb:Q6IAZ0|uniprotkb:Q6IPY5|uniprotkb:Q561V9 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myl6_human(display_long)|uniprotkb:MYL6(gene name)|psi-mi:MYL6(display_short)|uniprotkb:Smooth muscle and nonmuscle myosin light chain alkali 6(gene name synonym)|uniprotkb:Myosin light chain alkali 3(gene name synonym)|uniprotkb:Myosin light chain 3(gene name synonym)|uniprotkb:17 kDa myosin light chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000092841(gene)|ensembl:ENST00000548293(transcript)|ensembl:ENST00000550697(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005829"(cytosol)|go:"GO:0005903"(brush border)|go:"GO:0006936"(muscle contraction)|go:"GO:0007519"(skeletal muscle tissue development)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0016020"(membrane)|go:"GO:0016459"(myosin complex)|go:"GO:0016461"(unconventional myosin complex)|go:"GO:0030049"(muscle filament sliding)|go:"GO:0031982"(vesicle)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|mint:P60660|reactome:R-HSA-3928663|reactome:R-HSA-416572|reactome:R-HSA-445355|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|refseq:NP_066299.2|refseq:NP_524147.2 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LhE3NUqcuHlOla13C0vjnFZfzy89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P59998 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351872|uniprotkb:O15509|uniprotkb:C9JWM7|uniprotkb:E7ETI0|uniprotkb:Q6P0W5|uniprotkb:Q96QJ3|ensembl:ENSP00000380431|uniprotkb:F6TTL5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arpc4_human(display_long)|uniprotkb:ARPC4(gene name)|psi-mi:ARPC4(display_short)|uniprotkb:ARC20(gene name synonym)|uniprotkb:Arp2/3 complex 20 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001185709.1|refseq:NP_005709.1|ensembl:ENSG00000241553(gene)|ensembl:ENST00000397261(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0019899"(enzyme binding)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0042995"(cell projection)|go:"GO:0045010"(actin nucleation)|go:"GO:0070062"(extracellular exosome)|interpro:IPR008384(ARP23 complex 20 kDa subunit)|interpro:IPR034666|mint:P59998|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|refseq:NP_001020130.1|refseq:NP_001020131.1|dip:DIP-33188N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Iqe60TWfO3QBVOY+fOqZd9JWfIE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8N556 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-3893163|uniprotkb:A8K442|uniprotkb:Q59EY5|uniprotkb:Q9HBY1|uniprotkb:B4DMU2|uniprotkb:E9PDT7|ensembl:ENSP00000351245|ensembl:ENSP00000353402 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:afap1_human(display_long)|uniprotkb:AFAP1(gene name)|psi-mi:AFAP1(display_short)|uniprotkb:AFAP(gene name synonym)|uniprotkb:110 kDa actin filament-associated protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011511846.1|refseq:NP_001128119.1|refseq:NP_940997.1|ensembl:ENSG00000196526(gene)|ensembl:ENST00000358461(transcript)|ensembl:ENST00000360265(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0009966"(regulation of signal transduction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0017124"(SH3 domain binding)|go:"GO:0042169"(SH2 domain binding)|go:"GO:0051493"(regulation of cytoskeleton organization)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR029907|interpro:IPR030113 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:RhPsp6U+J4FoLPSuXCw0KChvMOg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q02878 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-359655|uniprotkb:Q2M3Q3|uniprotkb:Q8WW97|ensembl:ENSP00000202773|ensembl:ENSP00000403172 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl6_human(display_long)|uniprotkb:RPL6(gene name)|psi-mi:RPL6(display_short)|uniprotkb:TXREB1(gene name synonym)|uniprotkb:Tax-responsive enhancer element-binding protein 107(gene name synonym)|uniprotkb:Neoplasm-related protein C140(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL6(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000961.2|refseq:NP_001019833.1|ensembl:ENSG00000089009(gene)|ensembl:ENST00000202773(transcript)|ensembl:ENST00000424576(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045296"(cadherin binding)|interpro:IPR000915(Ribosomal protein L6E)|interpro:IPR005568(Ribosomal protein L6, N-terminal)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR041997|mint:Q02878|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_001307066.1|refseq:NP_001307067.1|refseq:NP_001307068.1|refseq:NP_001307069.1|refseq:NP_001307070.1|refseq:XP_016875270.1|refseq:XP_016875271.1|dip:DIP-27547N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Y7fx3ToInzucV2QmI8KLSdHxai09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5VVC8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044496|ensembl:ENSP00000398888 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:q5vvc8_human(display_long)|uniprotkb:RPL11(gene name)|psi-mi:RPL11(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000142676(gene)|ensembl:ENST00000458455(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR002132(Ribosomal protein L5)|interpro:IPR020929|interpro:IPR022803|interpro:IPR031309|interpro:IPR031310 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5GlfVQzL0c+wvFxVylEGAMsQKkM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62241 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351811|uniprotkb:Q6IRL7|uniprotkb:P09058|ensembl:ENSP00000379888 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs8_human(display_long)|uniprotkb:RPS8(gene name)|psi-mi:RPS8(display_short)|uniprotkb:Small ribosomal subunit protein eS8(gene name synonym)|uniprotkb:OK/SW-cl.83(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001003.1|ensembl:ENSG00000142937(gene)|ensembl:ENST00000396651(transcript)|go:"GO:0000462"("maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001047(Ribosomal protein S8e)|interpro:IPR018283|interpro:IPR022309|interpro:IPR042563|mint:P62241|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:6G5H|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975957|reactome:R-HSA-975956 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3rpCBdQyRWR+TCKnupbnCp30jKE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14573 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351055|uniprotkb:Q14649|uniprotkb:Q5TAQ2|intact:EBI-28978202|ensembl:ENSP00000363435|ensembl:ENSP00000475177 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:itpr3_human(display_long)|uniprotkb:ITPR3(gene name)|psi-mi:ITPR3(display_short)|uniprotkb:Type 3 inositol 1,4,5-trisphosphate receptor(gene name synonym)|uniprotkb:IP3 receptor isoform 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002215.2|ensembl:ENSP00000363435|ensembl:ENSP00000475177|ensembl:ENSG00000096433(gene)|ensembl:ENST00000374316(transcript)|ensembl:ENST00000605930(transcript)|go:"GO:0000822"(inositol hexakisphosphate binding)|go:"GO:0005220"(inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005640"(nuclear outer membrane)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007204"(positive regulation of cytosolic calcium ion concentration)|go:"GO:0015278"(calcium-release channel activity)|go:"GO:0016020"(membrane)|go:"GO:0016529"(sarcoplasmic reticulum)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0031095"(platelet dense tubular network membrane)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043209"(myelin sheath)|go:"GO:0043235"(receptor complex)|go:"GO:0043533"(inositol 1,3,4,5 tetrakisphosphate binding)|go:"GO:0045177"(apical part of cell)|go:"GO:0050913"(sensory perception of bitter taste)|go:"GO:0050916"(sensory perception of sweet taste)|go:"GO:0050917"(sensory perception of umami taste)|go:"GO:0051209"(release of sequestered calcium ion into cytosol)|go:"GO:0051592"(response to calcium ion)|go:"GO:0060291"(long-term synaptic potentiation)|go:"GO:0060402"(calcium ion transport into cytosol)|go:"GO:0070679"(inositol 1,4,5 trisphosphate binding)|interpro:IPR000493(Inositol 1,4,5-trisphosphate-binding protein receptor)|interpro:IPR000699(Intracellular calcium-release channel)|interpro:IPR005821(Ion transport)|interpro:IPR013662(RyR and IP3R Homology associated)|interpro:IPR014821(Inositol 1,4,5-trisphosphate/ryanodine receptor)|interpro:IPR016093(MIR motif)|interpro:IPR035910|interpro:IPR036300|mint:Q14573|rcsb pdb:6DQJ|rcsb pdb:6DQN|rcsb pdb:6DQS|rcsb pdb:6DQV|rcsb pdb:6DQZ|rcsb pdb:6DR0|rcsb pdb:6DR2|rcsb pdb:6DRA|rcsb pdb:6DRC|rcsb pdb:6UQK|reactome:R-HSA-112043|reactome:R-HSA-114508|reactome:R-HSA-139853|reactome:R-HSA-1489509|reactome:R-HSA-2029485|reactome:R-HSA-2871809|reactome:R-HSA-381676|reactome:R-HSA-4086398|reactome:R-HSA-422356|reactome:R-HSA-5218921|reactome:R-HSA-5578775|reactome:R-HSA-5607763|reactome:R-HSA-9664323|go:"GO:0007613"(memory)|reactome:R-HSA-983695 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:O+1OC4E0IrAOt+D672eXnhWHy3I9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62263 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352783|ensembl:ENSP00000311028|ensembl:ENSP00000385425|uniprotkb:P06366|uniprotkb:Q5BJI0|uniprotkb:B2R5G5|uniprotkb:D3DQG5|ensembl:ENSP00000385958|ensembl:ENSP00000428509 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs14_human(display_long)|uniprotkb:RPS14(gene name)|psi-mi:RPS14(display_short)|uniprotkb:Small ribosomal subunit protein uS11(gene name synonym)|uniprotkb:PRO2640(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000164587(gene)|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_001020242.1|refseq:NP_005608.1|refseq:NP_001020241.1|ensembl:ENST00000312037(transcript)|ensembl:ENST00000401695(transcript)|ensembl:ENST00000407193(transcript)|ensembl:ENST00000521466(transcript)|go:"GO:0000028"(ribosomal small subunit assembly)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000462"("maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0030490"(maturation of SSU-rRNA)|go:"GO:0045182"(translation regulator activity)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070181"(small ribosomal subunit rRNA binding)|interpro:IPR001971(Ribosomal protein S11)|interpro:IPR018102|interpro:IPR036967|mint:P62263|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZXD intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ee3bJ5JYFaZXyCCRG9Wooopyz2o9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62829 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353303|uniprotkb:P23131|uniprotkb:Q3SWV7|uniprotkb:P24048|uniprotkb:Q29246|uniprotkb:Q6P5S1|ensembl:ENSP00000377865|ensembl:ENSP00000420311 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl23_human(display_long)|uniprotkb:RPL23(gene name)|psi-mi:RPL23(display_short)|uniprotkb:60S ribosomal protein L17(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL14(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|reactome:R-HSA-9010553|rcsb pdb:6ZMI|rcsb pdb:6ZMO|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|refseq:NP_000969.1|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032986"(protein-DNA complex disassembly)|go:"GO:0032991"(protein-containing complex)|go:"GO:0050821"(protein stabilization)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070180"(large ribosomal subunit rRNA binding)|go:"GO:0072717"(cellular response to actinomycin D)|go:"GO:1901798"(positive regulation of signal transduction by p53 class mediator)|go:"GO:1904667"(negative regulation of ubiquitin protein ligase activity)|go:"GO:1990948"(ubiquitin ligase inhibitor activity)|go:"GO:2000059"(negative regulation of ubiquitin-dependent protein catabolic process)|interpro:IPR000218(Ribosomal protein L14b/L23e)|interpro:IPR019972|interpro:IPR036853|mint:P62829|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|ensembl:ENSG00000125691(gene)|ensembl:ENST00000394332(transcript)|ensembl:ENST00000479035(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001223"(transcription coactivator binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0006610"(ribosomal protein import into nucleus)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0005730"(nucleolus)|dip:DIP-33156N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:TiSVU2W4+lkwf12eb4+vG6IFlZA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11717 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1048580|uniprotkb:Q7Z7G9|uniprotkb:Q96PT5|ensembl:ENSP00000349437 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mpri_human(display_long)|uniprotkb:Insulin-like growth factor 2 receptor(gene name synonym)|uniprotkb:Insulin-like growth factor II receptor(gene name synonym)|uniprotkb:M6P/IGF2 receptor(gene name synonym)|uniprotkb:300 kDa mannose 6-phosphate receptor(gene name synonym)|uniprotkb:IGF2R(gene name)|psi-mi:IGF2R(display_short)|uniprotkb:MPRI(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000867.2|go:"GO:0001965"(G-protein alpha-subunit binding)|go:"GO:0001972"(retinoic acid binding)|go:"GO:0005010"(insulin-like growth factor-activated receptor activity)|go:"GO:0005520"(insulin-like growth factor binding)|go:"GO:0005537"(mannose binding)|go:"GO:0005641"(nuclear envelope lumen)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005770"(late endosome)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006898"(receptor-mediated endocytosis)|ensembl:ENSG00000197081(gene)|go:"GO:0007041"(lysosomal transport)|go:"GO:0007165"(signal transduction)|ensembl:ENST00000356956(transcript)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0001889"(liver development)|go:"GO:0007283"(spermatogenesis)|go:"GO:0009791"(post-embryonic development)|go:"GO:0009986"(cell surface)|go:"GO:0010008"(endosome membrane)|go:"GO:0016020"(membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0030118"(clathrin coat)|go:"GO:0030133"(transport vesicle)|go:"GO:0030139"(endocytic vesicle)|go:"GO:0030140"(trans-Golgi network transport vesicle)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0031100"(animal organ regeneration)|go:"GO:0031995"(insulin-like growth factor II binding)|go:"GO:0032526"(response to retinoic acid)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0044794"(positive regulation by host of viral process)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051219"(phosphoprotein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904772"(response to tetrachloromethane)|go:"GO:1905394"(retromer complex binding)|interpro:IPR000479(Cation-independent mannose-6-phosphate receptor)|interpro:IPR000562(Type II fibronectin, collagen-binding)|interpro:IPR009011(Mannose-6-phosphate receptor, binding)|interpro:IPR013806(Kringle-like fold)|interpro:IPR036943|interpro:IPR044865|mint:P11717|rcsb pdb:1E6F|rcsb pdb:1GP0|rcsb pdb:1GP3|rcsb pdb:1GQB|rcsb pdb:1JPL|rcsb pdb:1JWG|rcsb pdb:1LF8|rcsb pdb:2CNJ|rcsb pdb:2L29|rcsb pdb:2L2A|rcsb pdb:2M68|rcsb pdb:2M6T|rcsb pdb:2V5N|rcsb pdb:2V5O|rcsb pdb:2V5P|rcsb pdb:5IEI|rcsb pdb:6N5X|rcsb pdb:6N5Y|rcsb pdb:6P8I|rcsb pdb:6V02|rcsb pdb:6Z30|rcsb pdb:6Z31|rcsb pdb:6Z32|reactome:R-HSA-432722|reactome:R-HSA-6798695|reactome:R-HSA-6811440|reactome:R-HSA-8856825|reactome:R-HSA-8856828|dip:DIP-6027N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7lkG6WR8MQ/SONiTV/8g1ZTtKTU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15145 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351829|uniprotkb:O00554|ensembl:ENSP00000228825 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arpc3_human(display_long)|uniprotkb:ARPC3(gene name)|psi-mi:ARPC3(display_short)|uniprotkb:ARC21(gene name synonym)|uniprotkb:Arp2/3 complex 21 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000111229(gene)|ensembl:ENST00000228825(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0030027"(lamellipodium)|go:"GO:0031941"(filamentous actin)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0061850"(growth cone leading edge)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070358"(actin polymerization-dependent cell motility)|go:"GO:1990090"(cellular response to nerve growth factor stimulus)|interpro:IPR007204(ARP2/3 complex, 21 kDa p21-Arc subunit)|interpro:IPR036753|mint:O15145|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|refseq:NP_001274151.1|refseq:NP_001265485.1|dip:DIP-33187N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:u4h1270mPo3E3GBrEurYtpUYTQM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B1AK88 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11897454|ensembl:ENSP00000401010 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b1ak88_human(display_long)|uniprotkb:CAPZB(gene name)|psi-mi:CAPZB(display_short)|uniprotkb:hCG_41078(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000077549(gene)|ensembl:ENST00000433834(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0008290"(F-actin capping protein complex)|go:"GO:0030017"(sarcomere)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0051016"(barbed-end actin filament capping)|interpro:IPR001698(F-actin capping protein, beta subunit)|interpro:IPR019771|interpro:IPR037282|interpro:IPR042276|interpro:IPR043175|refseq:NP_001269091.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:L1VAyy2Te2+ptydVZdFbk6Io0y09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46777 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358018|ensembl:ENSP00000359345|uniprotkb:Q53HH6|uniprotkb:Q9H3F4|uniprotkb:Q32LZ3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl5_human(display_long)|uniprotkb:RPL5(gene name)|psi-mi:RPL5(display_short)|uniprotkb:Large ribosomal subunit protein uL18(gene name synonym)|uniprotkb:MSTP030(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042273"(ribosomal large subunit biogenesis)|go:"GO:0045202"(synapse)|ensembl:ENSG00000122406(gene)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0070062"(extracellular exosome)|go:"GO:1901796"(regulation of signal transduction by p53 class mediator)|ensembl:ENST00000370321(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0008097"(5S rRNA binding)|go:"GO:0010628"(positive regulation of gene expression)|refseq:NP_000960.2|dip:DIP-31152N|go:"GO:1904667"(negative regulation of ubiquitin protein ligase activity)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:1990948"(ubiquitin ligase inhibitor activity)|go:"GO:2000059"(negative regulation of ubiquitin-dependent protein catabolic process)|go:"GO:2000435"(negative regulation of protein neddylation)|interpro:IPR005485(Ribosomal protein L5, eukaryotic)|interpro:IPR025607|mint:P46777|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rs+zAc+IPrEqv7DHNcy2GIkQkfY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P47755 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-762451|uniprotkb:B4DG50|ensembl:ENSP00000354947 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:caza2_human(display_long)|uniprotkb:CapZ alpha-2(gene name synonym)|uniprotkb:CAPZA2(gene name)|psi-mi:CAPZA2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006127.1|ensembl:ENSG00000198898(gene)|ensembl:ENST00000361183(transcript)|go:"GO:0005576"(extracellular region)|go:"GO:0005829"(cytosol)|go:"GO:0005903"(brush border)|go:"GO:0008290"(F-actin capping protein complex)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002189(F-actin capping protein, alpha subunit)|interpro:IPR017865|interpro:IPR037282|interpro:IPR042276|interpro:IPR042489|mint:P47755|reactome:R-HSA-2132295|reactome:R-HSA-3371497|reactome:R-HSA-6807878|reactome:R-HSA-6811436|reactome:R-HSA-879415|reactome:R-HSA-9662360|reactome:R-HSA-983231|go:"GO:0016020"(membrane) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7+0w8fJ0OowIwAC7/tdNqiGSepc9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PKZ0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043777|ensembl:ENSP00000434535 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pkz0_human(display_long)|uniprotkb:RPL8(gene name)|psi-mi:RPL8(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR008991(Translation protein SH3-like)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR014726(Ribosomal protein L2, domain 3)|interpro:IPR022666|interpro:IPR022669|ensembl:ENSG00000161016(gene)|ensembl:ENST00000532702(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005737"(cytoplasm)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR002171(Ribosomal protein L2) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:zhxB5WvYK0K3beG3G/5IlG+bhHk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14247 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351886|intact:EBI-3959948|ensembl:ENSP00000301843|ensembl:ENSP00000500756|uniprotkb:Q8N707|uniprotkb:Q96H99 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:src8_human(display_long)|uniprotkb:CTTN(gene name)|psi-mi:CTTN(display_short)|uniprotkb:EMS1(gene name synonym)|uniprotkb:Amplaxin(gene name synonym)|uniprotkb:Oncogene EMS1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005222.2|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0006930"(substrate-dependent cell migration, cell extension)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0030027"(lamellipodium)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0030427"(site of polarized growth)|go:"GO:0030516"(regulation of axon extension)|go:"GO:0030833"(regulation of actin filament polymerization)|go:"GO:0030838"(positive regulation of actin filament polymerization)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0043197"(dendritic spine)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045296"(cadherin binding)|go:"GO:0045987"(positive regulation of smooth muscle contraction)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0048812"(neuron projection morphogenesis)|go:"GO:0048870"(cell motility)|go:"GO:0051015"(actin filament binding)|go:"GO:0097062"(dendritic spine maintenance)|go:"GO:0097581"(lamellipodium organization)|go:"GO:1903146"(regulation of autophagy of mitochondrion)|go:"GO:1990023"(mitotic spindle midzone)|go:"GO:2001237"(negative regulation of extrinsic apoptotic signaling pathway)|interpro:IPR001452(Src homology-3)|interpro:IPR003134(Hs1/Cortactin)|interpro:IPR015503(Cortactin)|interpro:IPR035716|interpro:IPR036028|mint:Q14247|rcsb pdb:1X69|rcsb pdb:2D1X|reactome:R-HSA-5627123|reactome:R-HSA-8856828|ensembl:ENSG00000085733(gene)|ensembl:ENSG00000288401(gene)|ensembl:ENST00000301843(transcript)|ensembl:ENST00000671805(transcript)|go:"GO:0001726"(ruffle)|go:"GO:0002102"(podosome)|go:"GO:0005522"(profilin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005905"(clathrin-coated pit)|go:"GO:0005925"(focal adhesion)|go:"GO:0005938"(cell cortex)|refseq:NP_001171669.1|refseq:NP_612632.1|dip:DIP-33190N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uzhAnL5Fu9Mgg9/LWeNiaYIwNVU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P08708 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358255|uniprotkb:B2R4U4|intact:EBI-8012092|intact:EBI-11603362|intact:MINT-8395037|uniprotkb:P0CW22|ensembl:ENSP00000483755|ensembl:ENSP00000498019 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs17_human(display_long)|uniprotkb:RPS17(gene name)|psi-mi:RPS17(display_short)|uniprotkb:Small ribosomal subunit protein eS17(gene name synonym)|uniprotkb:RPS17L(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001012.1|ensembl:ENSG00000182774(gene)|ensembl:ENSG00000278229(gene)|ensembl:ENST00000617731(transcript)|ensembl:ENST00000647841(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0006413"(translational initiation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0042274"(ribosomal small subunit biogenesis)|interpro:IPR001210(Ribosomal protein S17e)|interpro:IPR018273|interpro:IPR036401|mint:P08708|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|go:"GO:0034101"(erythrocyte homeostasis)|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBS|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:st+xQCXdSObiy6cJD1cSx869V289606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15144 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352356|uniprotkb:Q92801|uniprotkb:Q9P1D4|ensembl:ENSP00000295685|ensembl:ENSP00000327137 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arpc2_human(display_long)|uniprotkb:ARPC2(gene name)|psi-mi:ARPC2(display_short)|uniprotkb:ARC34(gene name synonym)|uniprotkb:PRO2446(orf name)|uniprotkb:Arp2/3 complex 34 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005722.1|refseq:NP_690601.1|go:"GO:0005925"(focal adhesion)|go:"GO:0010592"(positive regulation of lamellipodium assembly)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0036195"(muscle cell projection membrane)|go:"GO:0043005"(neuron projection)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070358"(actin polymerization-dependent cell motility)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1900026"(positive regulation of substrate adhesion-dependent cell spreading)|interpro:IPR007188(Arp2/3 complex, 34kDa subunit p34-Arc)|interpro:IPR034666|mint:O15144|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|go:"GO:0005885"(Arp2/3 protein complex)|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|reactome:R-HSA-3928662|ensembl:ENSG00000163466(gene)|ensembl:ENST00000295685(transcript)|ensembl:ENST00000315717(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005768"(endosome)|go:"GO:0005829"(cytosol)|dip:DIP-33197N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:v5OozQTt614rvrBBoUavbAzjgZ49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62906 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356860|uniprotkb:P52859|uniprotkb:P53025|uniprotkb:Q5TZT6|uniprotkb:Q8J013|uniprotkb:B2R801|ensembl:ENSP00000363018 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl10a_human(display_long)|uniprotkb:RPL10A(gene name)|psi-mi:RPL10A(display_short)|uniprotkb:NEDD6(gene name synonym)|uniprotkb:CSA-19(gene name synonym)|uniprotkb:Neural precursor cell expressed developmentally down-regulated protein 6(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_009035.3|ensembl:ENSG00000198755(gene)|ensembl:ENST00000322203(transcript)|go:"GO:0000470"(maturation of LSU-rRNA)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045471"(response to ethanol)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002143(Ribosomal protein L1)|interpro:IPR016095(Ribosomal protein L1, 3-layer alpha/beta-sandwich)|interpro:IPR023673|interpro:IPR023674|interpro:IPR028364|mint:P62906|rcsb pdb:4UG0|rcsb pdb:4V6X|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LU8|rcsb pdb:6OLG|rcsb pdb:6QZP|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:wrXKX6vzZ3ovXP3yUoL1/r+NGiw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62424 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354172|uniprotkb:P11518|uniprotkb:Q5T8U4|ensembl:ENSP00000361076|ensembl:ENSP00000487443 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl7a_human(display_long)|uniprotkb:RPL7A(gene name)|psi-mi:RPL7A(display_short)|uniprotkb:SURF-3(gene name synonym)|uniprotkb:SURF3(gene name synonym)|uniprotkb:Surfeit locus protein 3(gene name synonym)|uniprotkb:PLA-X polypeptide(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL8(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000963.1|dip:DIP-31502N|ensembl:ENSG00000148303(gene)|ensembl:ENSG00000280858(gene)|ensembl:ENST00000323345(transcript)|ensembl:ENST00000630979(transcript)|go:"GO:0000470"(maturation of LSU-rRNA)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045296"(cadherin binding)|interpro:IPR001921(Ribosomal protein L7A)|interpro:IPR004037(Ribosomal protein L7Ae)|interpro:IPR004038(Ribosomal protein L7Ae/L30e/S12e/Gadd45)|interpro:IPR018492|interpro:IPR029064|mint:P62424|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|go:"GO:0005634"(nucleus)|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:shPtLmc+oabT/rSwho+tP1iJy4k9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92747 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1020827|uniprotkb:Q7Z5U8|uniprotkb:Q86WU5|uniprotkb:Q8IXQ0|uniprotkb:A4D276|uniprotkb:D6W5S1|ensembl:ENSP00000262942|uniprotkb:B4DLQ7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arc1a_human(display_long)|uniprotkb:ARPC1A(gene name)|psi-mi:ARPC1A(display_short)|uniprotkb:SOP2L(gene name synonym)|uniprotkb:SOP2-like protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006400.2|ensembl:ENSG00000241685(gene)|ensembl:ENST00000262942(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR017383(Actin-related protein 2/3 complex, subunit 1)|interpro:IPR030140|interpro:IPR036322|mint:Q92747|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|dip:DIP-33142N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ACqXC+XYl9R9Z7mHhpw7vt1SPu49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92618 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2799490|intact:EBI-28975450|ensembl:ENSP00000394757 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn516_human(display_long)|uniprotkb:KIAA0222(gene name synonym)|uniprotkb:ZNF516(gene name)|psi-mi:ZNF516(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000394757|refseq:XP_011524571.1|refseq:XP_011524572.1|refseq:XP_011524573.1|refseq:XP_011524574.1|refseq:XP_011524575.1|refseq:XP_011524576.1|refseq:XP_011524577.1|refseq:NP_055458.1|ensembl:ENSG00000101493(gene)|ensembl:ENST00000443185(transcript)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0000987"(cis-regulatory region sequence-specific DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0009409"(response to cold)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|go:"GO:0050873"(brown fat cell differentiation)|go:"GO:0060612"(adipose tissue development)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|mint:Q92618|refseq:XP_016881586.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:L9yQp1u4G/AN1L79Bg8odnkiPi89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NR30 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357942|uniprotkb:Q13436|uniprotkb:Q5VX41|uniprotkb:Q68D35|uniprotkb:B2RDL0|intact:EBI-2555822|ensembl:ENSP00000346120 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ddx21_human(display_long)|uniprotkb:DDX21(gene name)|psi-mi:DDX21(display_short)|uniprotkb:Nucleolar RNA helicase II(gene name synonym)|uniprotkb:Nucleolar RNA helicase Gu(gene name synonym)|uniprotkb:RH II/Gu(gene name synonym)|uniprotkb:Gu-alpha(gene name synonym)|uniprotkb:DEAD box protein 21(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004719.2|dip:DIP-32941N|refseq:NP_001243839.1|ensembl:ENSG00000165732(gene)|ensembl:ENST00000354185(transcript)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0002735"(positive regulation of myeloid dendritic cell cytokine production)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005739"(mitochondrion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006366"(transcription by RNA polymerase II)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0030515"(snoRNA binding)|go:"GO:0035198"(miRNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0045087"(innate immune response)|go:"GO:0051607"(defense response to virus)|go:"GO:0062176"(R-loop disassembly)|go:"GO:0097322"(7SK snRNA binding)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR012562(GUCT)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR027417|interpro:IPR035979|mint:Q9NR30|rcsb pdb:2M3D|rcsb pdb:6L5L|rcsb pdb:6L5M|rcsb pdb:6L5N|rcsb pdb:6L5O|reactome:R-HSA-5250924|reactome:R-HSA-6791226|go:"GO:0005829"(cytosol) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:NSmxvs3DBWvKpVDEAHIpqy7/b6w9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3QRS3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044220|ensembl:ENSP00000464359 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3qrs3_human(display_long)|uniprotkb:MYL12A(gene name)|psi-mi:MYL12A(display_short)|uniprotkb:MRCL3(gene name synonym)|uniprotkb:hCG_2045956(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000101608(gene)|ensembl:ENST00000580887(transcript)|go:"GO:0005509"(calcium ion binding)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR015070(Region of unknown function DUF1880)|interpro:IPR018247|refseq:NP_001289978.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fnNK4lFewoss1VURWAwiP4XRPqI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A8MUD9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11602746|ensembl:ENSP00000379729|ensembl:ENSP00000379730|ensembl:ENSP00000379731 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a8mud9_human(display_long)|uniprotkb:RPL7(gene name)|psi-mi:RPL7(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_006716526.1|ensembl:ENSG00000147604(gene)|ensembl:ENST00000396465(transcript)|ensembl:ENST00000396466(transcript)|ensembl:ENST00000396467(transcript)|go:"GO:0000463"("maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0022625"(cytosolic large ribosomal subunit)|interpro:IPR005998(Ribosomal protein L7, eukaryotic)|interpro:IPR012988(Ribosomal protein L30, N-terminal)|interpro:IPR016082(Ribosomal protein L30, C-terminal)|interpro:IPR018038|interpro:IPR035808|interpro:IPR036919|interpro:IPR039699 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZPGgv6gGXRetikv7sN95EYHryY89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P05388 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354101|uniprotkb:Q9BVK4|intact:EBI-8012155|intact:MINT-8395053|uniprotkb:Q3B7A4|ensembl:ENSP00000339027|ensembl:ENSP00000376299|ensembl:ENSP00000449328 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rla0_human(display_long)|uniprotkb:RPLP0(gene name)|psi-mi:RPLP0(display_short)|uniprotkb:60S ribosomal protein L10E(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000993.1|refseq:NP_444505.1|ensembl:ENSG00000089157(gene)|ensembl:ENST00000228306(transcript)|ensembl:ENST00000392514(transcript)|ensembl:ENST00000551150(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0030425"(dendrite)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070180"(large ribosomal subunit rRNA binding)|go:"GO:0071353"(cellular response to interleukin-4)|go:"GO:0098794"(postsynapse)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001790(Ribosomal protein L10)|interpro:IPR030670|interpro:IPR040637|interpro:IPR043141|interpro:IPR043164|mint:P05388|rcsb pdb:4V6W|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:6OLG|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-8950505|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:xv3QHqnXxvCd3BOIeHVkqEnSNNk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61158 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351428|uniprotkb:P32391|ensembl:ENSP00000263238|uniprotkb:Q53QM2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arp3_human(display_long)|uniprotkb:ACTR3(gene name)|psi-mi:ACTR3(display_short)|uniprotkb:ARP3(gene name synonym)|uniprotkb:Actin-like protein 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005712.1|ensembl:ENSG00000115091(gene)|ensembl:ENST00000263238(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005903"(brush border)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0007163"(establishment or maintenance of cell polarity)|go:"GO:0008356"(asymmetric cell division)|go:"GO:0010592"(positive regulation of lamellipodium assembly)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016344"(meiotic chromosome movement towards spindle pole)|go:"GO:0030027"(lamellipodium)|go:"GO:0033206"(meiotic cytokinesis)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0051653"(spindle localization)|go:"GO:0060271"(cilium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070358"(actin polymerization-dependent cell motility)|go:"GO:0071346"(cellular response to interferon-gamma)|interpro:IPR004000(Actin/actin-like)|interpro:IPR015623(Actin-related protein 3)|interpro:IPR020902|interpro:IPR043129|mint:P61158|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|dip:DIP-33140N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XbkZeKzG8lGbT8dxYkGqeJT0vEg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62140 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352350|uniprotkb:P37140|uniprotkb:Q5U087|uniprotkb:Q6FG45|uniprotkb:D6W565|uniprotkb:B2R5V4|ensembl:ENSP00000296122|ensembl:ENSP00000351298|ensembl:ENSP00000378769 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pp1b_human(display_long)|uniprotkb:PPP1CB(gene name)|psi-mi:PPP1CB(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002700.1|refseq:NP_996759.1|ensembl:ENSG00000213639(gene)|ensembl:ENST00000296122(transcript)|ensembl:ENST00000358506(transcript)|ensembl:ENST00000395366(transcript)|go:"GO:0000164"(protein phosphatase type 1 complex)|go:"GO:0000165"(MAPK cascade)|go:"GO:0004722"(protein serine/threonine phosphatase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0005977"(glycogen metabolic process)|go:"GO:0005979"(regulation of glycogen biosynthetic process)|go:"GO:0005981"(regulation of glycogen catabolic process)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007049"(cell cycle)|go:"GO:0016791"(phosphatase activity)|go:"GO:0017018"(myosin phosphatase activity)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030155"(regulation of cell adhesion)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0042587"(glycogen granule)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0043153"(entrainment of circadian clock by photoperiod)|go:"GO:0046872"(metal ion binding)|go:"GO:0050115"(myosin-light-chain-phosphatase activity)|go:"GO:0051301"(cell division)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|go:"GO:0106306"|go:"GO:0106307"|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR006186("Serine/threonine-specific protein phosphatase and bis(5-nucleosyl)-tetraphosphatase")|interpro:IPR029052|interpro:IPR031675|mint:P62140|reactome:R-HSA-163560|reactome:R-HSA-2173788|reactome:R-HSA-2565942|reactome:R-HSA-400253|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|reactome:R-HSA-5673000|reactome:R-HSA-9660537|dip:DIP-33220N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VtNJVyimeiEuRDDWtGswTqoSOH89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q12905 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357925|uniprotkb:A6NDB0|uniprotkb:Q5SR10|uniprotkb:Q5SR11|uniprotkb:Q7L7R3|uniprotkb:Q9BWD4|uniprotkb:Q9P1N0|uniprotkb:B2R8G7|ensembl:ENSP00000355011 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ilf2_human(display_long)|uniprotkb:PRO3063(orf name)|uniprotkb:NF45(gene name synonym)|uniprotkb:ILF2(gene name)|psi-mi:ILF2(display_short)|uniprotkb:Nuclear factor of activated T-cells 45 kDa(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004506.2|refseq:NP_001254738.1|ensembl:ENSG00000143621(gene)|ensembl:ENST00000361891(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0016020"(membrane)|go:"GO:0035580"(specific granule lumen)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:1904724"(tertiary granule lumen)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR006561(DZF)|interpro:IPR043519|mint:Q12905|reactome:R-HSA-6798695 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HwUDuY6Ev7csoTThxZCW8nJT88o9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62158 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-397435|uniprotkb:P02593|uniprotkb:P70667|uniprotkb:P99014|uniprotkb:Q13942|uniprotkb:Q53S29|uniprotkb:Q61379|uniprotkb:Q61380|uniprotkb:Q96HK3|uniprotkb:P0DP25|uniprotkb:P0DP24|uniprotkb:P0DP23 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:calm_human(display_long)|uniprotkb:CALM1(gene name)|psi-mi:CALM1(display_short)|uniprotkb:CALM(gene name synonym)|uniprotkb:CAM(gene name synonym)|uniprotkb:CAM1(gene name synonym)|uniprotkb:CALM2(gene name)|psi-mi:CALM2(display_short)|uniprotkb:CAMB(gene name synonym)|uniprotkb:CALM3(gene name)|psi-mi:CALM3(display_short)|uniprotkb:CAM3(gene name synonym)|uniprotkb:CAMC(gene name synonym)|uniprotkb:CAMIII(gene name synonym)|uniprotkb:CAM2(gene name synonym)|uniprotkb:CALML2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:3SUI|rcsb pdb:2LGF|rcsb pdb:2LQC|rcsb pdb:2LQP|rcsb pdb:2Y4V|rcsb pdb:4JQ0|rcsb pdb:4LZX|rcsb pdb:4M1L|go:"GO:0010800"(positive regulation of peptidyl-threonine phosphorylation)|rcsb pdb:3J41|rcsb pdb:2LL6|go:"GO:0002027"(regulation of heart rate)|go:"GO:0005513"(detection of calcium ion)|go:"GO:0010881"(regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion)|go:"GO:0030017"(sarcomere)|go:"GO:0030801"(obsolete positive regulation of cyclic nucleotide metabolic process)|go:"GO:0032516"(positive regulation of phosphoprotein phosphatase activity)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0051343"(positive regulation of cyclic-nucleotide phosphodiesterase activity)|go:"GO:0072542"(protein phosphatase activator activity)|go:"GO:1901844"(regulation of cell communication by electrical coupling involved in cardiac conduction)|rcsb pdb:2LV6|rcsb pdb:2N6A|refseq:NP_001734.1|refseq:NP_005175.2|refseq:NP_008819.1|interpro:IPR011992(EF-Hand type)|interpro:IPR018247|interpro:IPR002048(Calcium-binding EF-hand)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0005876"(spindle microtubule)|go:"GO:0000922"(spindle pole)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005980"(glycogen catabolic process)|go:"GO:0006936"(muscle contraction)|go:"GO:0060315"(negative regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0002576"(platelet degranulation)|go:"GO:0060316"(positive regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0032465"(regulation of cytokinesis)|go:"GO:0050999"(regulation of nitric-oxide synthase activity)|rcsb pdb:1AJI|rcsb pdb:1CDL|rcsb pdb:1CLL|rcsb pdb:1CTR|rcsb pdb:1IWQ|rcsb pdb:1J7O|rcsb pdb:1J7P|rcsb pdb:1K90|rcsb pdb:1K93|rcsb pdb:1L7Z|rcsb pdb:1LVC|rcsb pdb:1NKF|rcsb pdb:1PK0|rcsb pdb:1S26|rcsb pdb:1SK6|rcsb pdb:1SW8|rcsb pdb:1WRZ|rcsb pdb:1XFU|rcsb pdb:1XFV|rcsb pdb:1XFW|rcsb pdb:1XFX|rcsb pdb:1XFY|rcsb pdb:1XFZ|rcsb pdb:1Y6W|rcsb pdb:1YR5|rcsb pdb:1YRT|rcsb pdb:1YRU|rcsb pdb:1ZOT|rcsb pdb:1ZUZ|rcsb pdb:2BE6|rcsb pdb:2F3Y|rcsb pdb:2F3Z|rcsb pdb:2HF5|rcsb pdb:2I08|rcsb pdb:2JZI|rcsb pdb:2K0E|rcsb pdb:2K0F|rcsb pdb:2K0J|rcsb pdb:2K61|rcsb pdb:2KNE|rcsb pdb:2KUG|rcsb pdb:2KUH|rcsb pdb:2L53|rcsb pdb:2L7L|rcsb pdb:2R28|rcsb pdb:2V01|rcsb pdb:2V02|rcsb pdb:2VAY|rcsb pdb:2W73|rcsb pdb:2WEL|rcsb pdb:2X0G|rcsb pdb:3BYA|rcsb pdb:3DVE|rcsb pdb:3DVJ|rcsb pdb:3DVK|rcsb pdb:3DVM|rcsb pdb:3EWT|rcsb pdb:3EWV|rcsb pdb:3G43|rcsb pdb:3HR4|rcsb pdb:3O77|rcsb pdb:3O78|rcsb pdb:3OXQ|rcsb pdb:3UCT|rcsb pdb:3UCW|rcsb pdb:3UCY|rcsb pdb:4DCK|go:"GO:0010801"(negative regulation of peptidyl-threonine phosphorylation)|go:"GO:0019901"(protein kinase binding)|go:"GO:0031954"(positive regulation of protein autophosphorylation)|go:"GO:0043539"(protein serine/threonine kinase activator activity)|go:"GO:0071902"(positive regulation of protein serine/threonine kinase activity)|go:"GO:0000165"(MAPK cascade)|rcsb pdb:2M0J|rcsb pdb:2M0K|rcsb pdb:4UMO|rcsb pdb:4V0C|go:"GO:0031982"(vesicle)|rcsb pdb:4Q5U|rcsb pdb:4UPU|reactome:R-HSA-2672351|reactome:R-HSA-418359|reactome:R-HSA-425561|reactome:R-HSA-5576892|reactome:R-HSA-5578775|reactome:R-HSA-936837|refseq:NP_001292555.1|rcsb pdb:4OVN|rcsb pdb:5COC|go:"GO:0021762"(substantia nigra development)|go:"GO:0070062"(extracellular exosome)|rcsb pdb:4BW7|rcsb pdb:4BW8|rcsb pdb:4L79|rcsb pdb:5DBR|rcsb pdb:4DJC|rcsb pdb:2M55|rcsb pdb:2LL7|go:"GO:0019855"(calcium channel inhibitor activity)|go:"GO:0001975"(response to amphetamine)|go:"GO:0007190"(activation of adenylate cyclase activity)|go:"GO:0030235"(nitric-oxide synthase regulator activity)|go:"GO:0030426"(growth cone)|go:"GO:0051000"(positive regulation of nitric-oxide synthase activity)|go:"GO:0051412"(response to corticosterone)|go:"GO:1901841"(regulation of high voltage-gated calcium channel activity)|rcsb pdb:2N77|go:"GO:0032991"(protein-containing complex)|go:"GO:0006479"(protein methylation)|go:"GO:0014069"(postsynaptic density)|rcsb pdb:5DSU|reactome:R-HSA-8876725|rcsb pdb:4GOW|rcsb pdb:4Q57|go:"GO:0043647"(inositol phosphate metabolic process)|go:"GO:0022400"(regulation of rhodopsin mediated signaling pathway)|go:"GO:0038095"(Fc-epsilon receptor signaling pathway)|go:"GO:0005576"(extracellular region)|go:"GO:0005737"(cytoplasm)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0010880"(regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031432"(titin binding)|go:"GO:0031996"(thioesterase binding)|go:"GO:0031997"(N-terminal myristoylation domain binding)|go:"GO:0043274"(phospholipase binding)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0051592"(response to calcium ion)|go:"GO:0055117"(regulation of cardiac muscle contraction)|rcsb pdb:2MG5|go:"GO:0005088"|go:"GO:0007223"(Wnt signaling pathway, calcium modulating pathway)|go:"GO:0008440"(inositol-1,4,5-trisphosphate 3-kinase activity)|go:"GO:0015276"(ligand-gated ion channel activity)|go:"GO:0005634"(nucleus)|rcsb pdb:4JPZ|ensembl:ENST00000272298|ensembl:ENST00000291295|ensembl:ENST00000356978|ensembl:ENST00000596362|refseq:NP_001292553.1|refseq:NP_001292554.1|rcsb pdb:4BYF|reactome:R-HSA-111932|reactome:R-HSA-111933|reactome:R-HSA-111957|reactome:R-HSA-111997|reactome:R-HSA-114608|reactome:R-HSA-1445148|reactome:R-HSA-1474151|reactome:R-HSA-180024|reactome:R-HSA-1855204|reactome:R-HSA-203615|reactome:R-HSA-2514859|reactome:R-HSA-2871809|reactome:R-HSA-4086398|reactome:R-HSA-442717|reactome:R-HSA-442729|reactome:R-HSA-442745|reactome:R-HSA-442982|reactome:R-HSA-445355|reactome:R-HSA-451308|reactome:R-HSA-5218920|reactome:R-HSA-5218921|reactome:R-HSA-5607763|reactome:R-HSA-5626467|reactome:R-HSA-5627123|reactome:R-HSA-5673001|reactome:R-HSA-70221|reactome:R-HSA-983695|ensembl:ENSG00000143933|ensembl:ENSG00000160014|ensembl:ENSG00000198668|ensembl:ENSP00000272298|ensembl:ENSP00000291295|ensembl:ENSP00000349467|ensembl:ENSP00000472141|rcsb pdb:5NIN|rcsb pdb:5VMS|rcsb pdb:5WSU|rcsb pdb:5WSV|rcsb pdb:6U39|rcsb pdb:6U3A|rcsb pdb:6U3B|rcsb pdb:6U3D|rcsb pdb:2N8J|rcsb pdb:5GGM|rcsb pdb:5J8H|reactome:R-HSA-163615|reactome:R-HSA-5210891|refseq:NP_001316851.1|refseq:NP_001316852.1|refseq:NP_001316853.1|refseq:NP_001316854.1|refseq:NP_001316855.1|rcsb pdb:2N27|rcsb pdb:5DOW|rcsb pdb:5I0I|rcsb pdb:5J03|rcsb pdb:5K7L|rcsb pdb:5K8Q|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0000086"(G2/M transition of mitotic cell cycle)|go:"GO:0043388"(positive regulation of DNA binding)|dip:DIP-31794N|rcsb pdb:1UP5|rcsb pdb:5JQA|rcsb pdb:5JTH|rcsb pdb:5OEO|rcsb pdb:5TP5|rcsb pdb:5TP6|rcsb pdb:5V02|rcsb pdb:5V03|rcsb pdb:5V7X|rcsb pdb:5WBX|rcsb pdb:5WC5|rcsb pdb:6B8L|rcsb pdb:6B8M|rcsb pdb:6B8N|rcsb pdb:6B8P|rcsb pdb:6B8Q|rcsb pdb:6C1D|rcsb pdb:6C1G|rcsb pdb:6C1H|rcsb pdb:6CNM|rcsb pdb:6CNN|rcsb pdb:6CNO|rcsb pdb:6FEG|rcsb pdb:6FEH|reactome:R-HSA-2025928|reactome:R-HSA-2151201|go:"GO:0034704"(calcium channel complex)|go:"GO:0010856"(adenylate cyclase activator activity)|go:"GO:0051186"(obsolete cofactor metabolic process)|go:"GO:0075206"(obsolete positive regulation by host of symbiont cAMP-mediated signal transduction)|go:"GO:0060314"(regulation of ryanodine-sensitive calcium-release channel activity)|interpro:IPR039030|go:"GO:1902494"(catalytic complex)|go:"GO:0043234"|go:"GO:0008179"(adenylate cyclase binding)|go:"GO:0097718"(disordered domain specific binding)|go:"GO:0030819"(obsolete positive regulation of cAMP biosynthetic process)|rcsb pdb:6BUT|rcsb pdb:6DAD|rcsb pdb:6DAE|rcsb pdb:6DAF|rcsb pdb:6DAH|rcsb pdb:6E2F|rcsb pdb:6E2G|rcsb pdb:6EEB|rcsb pdb:6GDK|rcsb pdb:6GDL|rcsb pdb:6HCS|rcsb pdb:6JI8|rcsb pdb:6JII|rcsb pdb:6JIU|rcsb pdb:6JIY|rcsb pdb:6JRS|rcsb pdb:6JV2|rcsb pdb:6K4K|rcsb pdb:6K4L|rcsb pdb:6K4R|rcsb pdb:6MUD|rcsb pdb:6MUE|rcsb pdb:6N5W|rcsb pdb:6O5G|reactome:R-HSA-438066|reactome:R-HSA-442720|reactome:R-HSA-5673000|reactome:R-HSA-6802946|reactome:R-HSA-6802949|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-9009391|reactome:R-HSA-9022535|reactome:R-HSA-9022692|reactome:R-HSA-9617324|reactome:R-HSA-9619229|reactome:R-HSA-9619483|reactome:R-HSA-9620244|go:"GO:0019722"(calcium-mediated signaling)|rcsb pdb:6PBX|rcsb pdb:6PBY|reactome:R-HSA-9649948|go:"GO:0005623"(obsolete cell)|rcsb pdb:6HR1|rcsb pdb:6OS4|rcsb pdb:6Y4P|rcsb pdb:6Y94|rcsb pdb:6Y95|reactome:R-HSA-9664323|go:"GO:0030234"(enzyme regulator activity)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0016032"(viral process)|rcsb pdb:6M7H|rcsb pdb:6UZZ|rcsb pdb:6V00|rcsb pdb:6V01|rcsb pdb:6PLM|rcsb pdb:6S5T|rcsb pdb:6SZ5|rcsb pdb:6XXF|rcsb pdb:6Y4O intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:tTYcOd9bOh211njZVz7cYVybAMQ9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P0DP23 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25817233|ensembl:ENSP00000349467|intact:EBI-28973196|uniprotkb:P02593|uniprotkb:P62158|uniprotkb:P70667|uniprotkb:P99014|uniprotkb:Q13942|uniprotkb:Q53S29|uniprotkb:Q61379|uniprotkb:Q61380|uniprotkb:Q96HK3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:calm1_human(display_long)|uniprotkb:CALM1(gene name)|psi-mi:CALM1(display_short)|uniprotkb:CALM(gene name synonym)|uniprotkb:CAM(gene name synonym)|uniprotkb:CAM1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:2I08|rcsb pdb:2JZI|rcsb pdb:2K0E|rcsb pdb:2K0F|rcsb pdb:2K0J|rcsb pdb:2K61|rcsb pdb:2KNE|rcsb pdb:2KUG|rcsb pdb:2KUH|rcsb pdb:2L53|rcsb pdb:2L7L|rcsb pdb:2LGF|rcsb pdb:2LL6|rcsb pdb:2LL7|rcsb pdb:2LQC|rcsb pdb:2LQP|rcsb pdb:2LV6|rcsb pdb:2M0J|rcsb pdb:2M0K|rcsb pdb:2M55|rcsb pdb:2MG5|rcsb pdb:2N27|rcsb pdb:2N6A|rcsb pdb:2N77|rcsb pdb:2N8J|rcsb pdb:2R28|rcsb pdb:2V01|rcsb pdb:2V02|rcsb pdb:2VAY|rcsb pdb:2HF5|rcsb pdb:2W73|rcsb pdb:2WEL|rcsb pdb:2X0G|go:"GO:0098901"(regulation of cardiac muscle cell action potential)|go:"GO:0140056"(organelle localization by membrane tethering)|go:"GO:1900242"(regulation of synaptic vesicle endocytosis)|go:"GO:1901842"(negative regulation of high voltage-gated calcium channel activity)|go:"GO:1901844"(regulation of cell communication by electrical coupling involved in cardiac conduction)|go:"GO:1902494"(catalytic complex)|go:"GO:1905913"(negative regulation of calcium ion export across plasma membrane)|go:"GO:1990456"(mitochondrion-endoplasmic reticulum membrane tethering)|go:"GO:2000300"(regulation of synaptic vesicle exocytosis)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR018247|mint:P0DP23|rcsb pdb:1AJI|rcsb pdb:1CDL|rcsb pdb:1CLL|rcsb pdb:1CTR|rcsb pdb:1IWQ|rcsb pdb:1J7O|rcsb pdb:1J7P|rcsb pdb:1K90|go:"GO:0097718"(disordered domain specific binding)|rcsb pdb:1K93|rcsb pdb:1L7Z|rcsb pdb:1LVC|ensembl:ENSG00000198668(gene)|ensembl:ENST00000356978(transcript)|go:"GO:0000086"(G2/M transition of mitotic cell cycle)|go:"GO:0000922"(spindle pole)|go:"GO:0001975"(response to amphetamine)|go:"GO:0002027"(regulation of heart rate)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005513"(detection of calcium ion)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005876"(spindle microtubule)|go:"GO:0005886"(plasma membrane)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007190"(activation of adenylate cyclase activity)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0008179"(adenylate cyclase binding)|go:"GO:0010800"(positive regulation of peptidyl-threonine phosphorylation)|go:"GO:0010801"(negative regulation of peptidyl-threonine phosphorylation)|go:"GO:0010856"(adenylate cyclase activator activity)|go:"GO:0010880"(regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum)|go:"GO:0010881"(regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion)|go:"GO:0016240"(autophagosome membrane docking)|go:"GO:0019855"(calcium channel inhibitor activity)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0021762"(substantia nigra development)|go:"GO:0030017"(sarcomere)|go:"GO:0030234"(enzyme regulator activity)|go:"GO:0030235"(nitric-oxide synthase regulator activity)|go:"GO:0030426"(growth cone)|go:"GO:0031432"(titin binding)|go:"GO:0031800"(type 3 metabotropic glutamate receptor binding)|go:"GO:0031954"(positive regulation of protein autophosphorylation)|go:"GO:0031966"(mitochondrial membrane)|go:"GO:0031982"(vesicle)|go:"GO:0031997"(N-terminal myristoylation domain binding)|go:"GO:0032465"(regulation of cytokinesis)|go:"GO:0032516"(positive regulation of phosphoprotein phosphatase activity)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034704"(calcium channel complex)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0043209"(myelin sheath)|go:"GO:0043388"(positive regulation of DNA binding)|go:"GO:0043539"(protein serine/threonine kinase activator activity)|go:"GO:0043548"(phosphatidylinositol 3-kinase binding)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0050848"(regulation of calcium-mediated signaling)|go:"GO:0050998"(nitric-oxide synthase binding)|go:"GO:0051000"(positive regulation of nitric-oxide synthase activity)|go:"GO:0051343"(positive regulation of cyclic-nucleotide phosphodiesterase activity)|go:"GO:0051412"(response to corticosterone)|go:"GO:0051592"(response to calcium ion)|go:"GO:0055117"(regulation of cardiac muscle contraction)|go:"GO:0060314"(regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0060315"(negative regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0060316"(positive regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0071902"(positive regulation of protein serine/threonine kinase activity)|go:"GO:0072542"(protein phosphatase activator activity)|go:"GO:0090151"(establishment of protein localization to mitochondrial membrane)|go:"GO:0030672"(synaptic vesicle membrane)|rcsb pdb:1PK0|rcsb pdb:1S26|rcsb pdb:1SK6|rcsb pdb:1SW8|rcsb pdb:1UP5|rcsb pdb:1WRZ|rcsb pdb:1XFU|rcsb pdb:1XFV|rcsb pdb:1XFW|rcsb pdb:1XFX|rcsb pdb:1XFY|rcsb pdb:1XFZ|rcsb pdb:1Y6W|rcsb pdb:1YR5|rcsb pdb:1YRT|rcsb pdb:1YRU|rcsb pdb:1ZOT|rcsb pdb:1ZUZ|rcsb pdb:2BE6|rcsb pdb:1NKF|rcsb pdb:2F3Y|rcsb pdb:2F3Z|rcsb pdb:2Y4V|rcsb pdb:3DVE|rcsb pdb:3DVJ|rcsb pdb:3DVK|rcsb pdb:3DVM|rcsb pdb:3EWT|rcsb pdb:3EWV|rcsb pdb:3G43|rcsb pdb:3HR4|rcsb pdb:3J41|rcsb pdb:3O77|rcsb pdb:3O78|rcsb pdb:3OXQ|rcsb pdb:3SUI|rcsb pdb:3UCT|rcsb pdb:3UCW|rcsb pdb:3UCY|rcsb pdb:4BW7|rcsb pdb:4BW8|rcsb pdb:4BYF|rcsb pdb:4DCK|rcsb pdb:4DJC|rcsb pdb:4GOW|rcsb pdb:4JPZ|rcsb pdb:4JQ0|rcsb pdb:4L79|rcsb pdb:4LZX|rcsb pdb:4M1L|rcsb pdb:4OVN|rcsb pdb:4Q57|rcsb pdb:4Q5U|rcsb pdb:4UMO|rcsb pdb:4UPU|rcsb pdb:4V0C|rcsb pdb:5COC|rcsb pdb:3BYA|rcsb pdb:5DBR|rcsb pdb:5DOW|rcsb pdb:5DSU|rcsb pdb:5GGM|rcsb pdb:5I0I|rcsb pdb:5J03|rcsb pdb:5J8H|rcsb pdb:5JQA|rcsb pdb:5JTH|rcsb pdb:5K7L|rcsb pdb:5K8Q|rcsb pdb:5OEO|rcsb pdb:5TP5|rcsb pdb:5TP6|rcsb pdb:5V02|rcsb pdb:5V03|rcsb pdb:5V7X|rcsb pdb:5WBX|rcsb pdb:5WC5|rcsb pdb:6B8L|rcsb pdb:6B8M|rcsb pdb:6B8N|rcsb pdb:6B8P|rcsb pdb:6B8Q|rcsb pdb:6BUT|rcsb pdb:6C1D|rcsb pdb:6C1G|rcsb pdb:6C1H|rcsb pdb:6CNM|rcsb pdb:6CNN|rcsb pdb:6CNO|rcsb pdb:6DAD|rcsb pdb:6DAE|rcsb pdb:6DAF|rcsb pdb:6DAH|rcsb pdb:6E2F|rcsb pdb:6E2G|rcsb pdb:6EEB|rcsb pdb:6FEG|rcsb pdb:6FEH|rcsb pdb:6GDK|rcsb pdb:6GDL|rcsb pdb:6HCS|rcsb pdb:6HR1|rcsb pdb:6JI8|rcsb pdb:6JII|rcsb pdb:6JIU|rcsb pdb:6JIY|rcsb pdb:6JRS|rcsb pdb:6JV2|rcsb pdb:6K4K|rcsb pdb:6K4L|rcsb pdb:6K4R|rcsb pdb:6M2W|rcsb pdb:6M7H|rcsb pdb:6MUD|rcsb pdb:6MUE|rcsb pdb:6N5W|rcsb pdb:6O5G|rcsb pdb:6OS4|rcsb pdb:6PAW|rcsb pdb:6PBX|rcsb pdb:6PBY|rcsb pdb:6U39|rcsb pdb:6U3A|rcsb pdb:6U3B|rcsb pdb:6U3D|rcsb pdb:6UZZ|rcsb pdb:6V00|rcsb pdb:6V01|rcsb pdb:6X32|rcsb pdb:6X33|rcsb pdb:6X35|rcsb pdb:6X36|rcsb pdb:6XXX|rcsb pdb:6XY3|rcsb pdb:6XYR|rcsb pdb:6Y4P|rcsb pdb:6Y94|rcsb pdb:6Y95|rcsb pdb:6YNS|rcsb pdb:6YNU|rcsb pdb:6ZBI|rcsb pdb:7KL5|reactome:R-HSA-111932|reactome:R-HSA-111933|reactome:R-HSA-111957|reactome:R-HSA-111997|reactome:R-HSA-114608|reactome:R-HSA-1445148|reactome:R-HSA-442982|reactome:R-HSA-445355|reactome:R-HSA-451308|reactome:R-HSA-1474151|reactome:R-HSA-5210891|reactome:R-HSA-5218920|reactome:R-HSA-5218921|reactome:R-HSA-163615|reactome:R-HSA-180024|reactome:R-HSA-5576892|reactome:R-HSA-1855204|reactome:R-HSA-2025928|reactome:R-HSA-5578775|reactome:R-HSA-5607763|reactome:R-HSA-5626467|reactome:R-HSA-5627123|reactome:R-HSA-203615|reactome:R-HSA-2151201|reactome:R-HSA-2514859|reactome:R-HSA-5673000|reactome:R-HSA-2672351|reactome:R-HSA-5673001|reactome:R-HSA-6802946|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-2871809|reactome:R-HSA-4086398|reactome:R-HSA-70221|reactome:R-HSA-8876725|reactome:R-HSA-9009391|reactome:R-HSA-418359|reactome:R-HSA-425561|reactome:R-HSA-438066|reactome:R-HSA-442720|reactome:R-HSA-9022535|reactome:R-HSA-9022692|reactome:R-HSA-936837|reactome:R-HSA-9617324|reactome:R-HSA-9619229|reactome:R-HSA-9619483|reactome:R-HSA-9620244|reactome:R-HSA-9648002|reactome:R-HSA-9649948|reactome:R-HSA-9656223|reactome:R-HSA-9664323|reactome:R-HSA-983695|reactome:R-HSA-442729|refseq:NP_001316851.1|refseq:NP_001734.1|refseq:NP_005175.2|refseq:NP_008819.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:tTYcOd9bOh211njZVz7cYVybAMQ9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q12906 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-78756|uniprotkb:A8K6F2|uniprotkb:O43409|uniprotkb:Q6P1X1|uniprotkb:Q86XY7|uniprotkb:Q99544|uniprotkb:Q99545|uniprotkb:Q9BZH4|uniprotkb:Q9BZH5|uniprotkb:Q9NQ95|uniprotkb:Q9NQ96|uniprotkb:Q9NQ97|uniprotkb:Q9NQ98|uniprotkb:Q9NQ99|uniprotkb:Q9NQA0|uniprotkb:Q9NQA1|uniprotkb:Q9NQA2|uniprotkb:Q9NRN2|uniprotkb:Q9NRN3|uniprotkb:Q9NRN4|uniprotkb:Q9UMZ9|uniprotkb:Q9UN00|uniprotkb:Q9UN84|uniprotkb:Q9UNA2|ensembl:ENSP00000468156|intact:EBI-10970055|uniprotkb:G5E9M5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ilf3_human(display_long)|uniprotkb:ILF3(gene name)|psi-mi:ILF3(display_short)|uniprotkb:MPHOSPH4(gene name synonym)|uniprotkb:NF90(gene name synonym)|uniprotkb:Nuclear factor of activated T-cells 90 kDa(gene name synonym)|uniprotkb:Double-stranded RNA-binding protein 76(gene name synonym)|uniprotkb:Translational control protein 80(gene name synonym)|uniprotkb:Nuclear factor associated with dsRNA(gene name synonym)|uniprotkb:M-phase phosphoprotein 4(gene name synonym)|uniprotkb:DRBF(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000129351(gene)|ensembl:ENST00000590261(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0003727"(single-stranded RNA binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0035925"(mRNA 3'-UTR AU-rich region binding)|go:"GO:0045071"(negative regulation of viral genome replication)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0051607"(defense response to virus)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR006561(DZF)|interpro:IPR014720(Double-stranded RNA-binding-like)|interpro:IPR033099|interpro:IPR043519|mint:Q12906|rcsb pdb:2L33|rcsb pdb:3P1X|refseq:NP_001131145.1|refseq:NP_004507.2|refseq:NP_036350.2|refseq:NP_060090.2|refseq:NP_703194.1|refseq:XP_016882252.1|refseq:XP_011526286.2|dip:DIP-29853N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iri+WBUtektANRSCpBO1XBCd9Wk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11142 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351896|uniprotkb:Q9H3R6|ensembl:ENSP00000227378|ensembl:ENSP00000432083|ensembl:ENSP00000437125 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hsp7c_human(display_long)|uniprotkb:HSPA8(gene name)|psi-mi:HSPA8(display_short)|uniprotkb:HSC70(gene name synonym)|uniprotkb:HSP73(gene name synonym)|uniprotkb:HSPA10(gene name synonym)|uniprotkb:Heat shock 70 kDa protein 8(gene name synonym)|uniprotkb:Lipopolysaccharide-associated protein 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006588.1|refseq:NP_694881.1|refseq:XP_011541100.1|ensembl:ENSG00000109971(gene)|ensembl:ENST00000227378(transcript)|ensembl:ENST00000532636(transcript)|ensembl:ENST00000534624(transcript)|go:"GO:0000974"(Prp19 complex)|go:"GO:0001664"(G protein-coupled receptor binding)|go:"GO:0001786"(phosphatidylserine binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005770"(late endosome)|go:"GO:0005776"(autophagosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006397"(mRNA processing)|go:"GO:0006457"(protein folding)|go:"GO:0006986"(response to unfolded protein)|go:"GO:0008380"(RNA splicing)|go:"GO:0009267"(cellular response to starvation)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0023026"(MHC class II protein complex binding)|go:"GO:0030425"(dendrite)|go:"GO:0030674"(protein-macromolecule adaptor activity)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0031647"(regulation of protein stability)|go:"GO:0034620"(cellular response to unfolded protein)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0042026"(protein refolding)|go:"GO:0042470"(melanosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0043195"(terminal bouton)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043254"(regulation of protein-containing complex assembly)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0044829"(positive regulation by host of viral genome replication)|go:"GO:0045296"(cadherin binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0046034"(ATP metabolic process)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051085"(chaperone cofactor-dependent protein refolding)|go:"GO:0051087"(chaperone binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0051787"(misfolded protein binding)|go:"GO:0055131"(C3HC4-type RING finger domain binding)|go:"GO:0061024"(membrane organization)|go:"GO:0061202"(clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane)|go:"GO:0061635"(regulation of protein complex stability)|go:"GO:0061684"(chaperone-mediated autophagy)|go:"GO:0061738"(late endosomal microautophagy)|go:"GO:0061740"(protein targeting to lysosome involved in chaperone-mediated autophagy)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:0098575"(lumenal side of lysosomal membrane)|go:"GO:0098684"(photoreceptor ribbon synapse)|go:"GO:0098690"(glycinergic synapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099175"(regulation of postsynapse organization)|go:"GO:0099523"(presynaptic cytosol)|go:"GO:0099524"(postsynaptic cytosol)|go:"GO:0099634"(postsynaptic specialization membrane)|go:"GO:0101031"(chaperone complex)|go:"GO:0140545"(protein disaggregase activity)|go:"GO:0140597"(protein carrier chaperone)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1902904"(negative regulation of supramolecular fiber organization)|go:"GO:1904589"(regulation of protein import)|go:"GO:1904764"(chaperone-mediated autophagy translocation complex disassembly)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1990832"(slow axonal transport)|go:"GO:1990833"(clathrin-uncoating ATPase activity)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR013126(Heat shock protein 70)|interpro:IPR018181|interpro:IPR029047|interpro:IPR029048|interpro:IPR043129|mint:P11142|rcsb pdb:3AGY|rcsb pdb:3AGZ|rcsb pdb:3ESK|rcsb pdb:3FZF|rcsb pdb:3FZH|rcsb pdb:3FZK|rcsb pdb:3FZL|rcsb pdb:3FZM|rcsb pdb:3LDQ|rcsb pdb:3M3Z|rcsb pdb:4H5N|rcsb pdb:4H5R|rcsb pdb:4H5T|rcsb pdb:4H5V|rcsb pdb:4H5W|rcsb pdb:4HWI|rcsb pdb:4KBQ|rcsb pdb:5AQF|rcsb pdb:5AQG|rcsb pdb:5AQH|rcsb pdb:5AQI|rcsb pdb:5AQJ|rcsb pdb:5AQK|rcsb pdb:5AQL|rcsb pdb:5AQM|rcsb pdb:5AQN|rcsb pdb:5AQO|rcsb pdb:5AQP|rcsb pdb:5AQQ|rcsb pdb:5AQR|rcsb pdb:5AQS|rcsb pdb:5AQT|rcsb pdb:5AQU|rcsb pdb:5AQV|rcsb pdb:6B1I|rcsb pdb:6B1M|rcsb pdb:6B1N|rcsb pdb:6ZYJ|reactome:R-HSA-3371453|reactome:R-HSA-3371497|reactome:R-HSA-3371568|reactome:R-HSA-3371571|reactome:R-HSA-432720|reactome:R-HSA-432722|reactome:R-HSA-447041|reactome:R-HSA-450408|reactome:R-HSA-6785807|reactome:R-HSA-6798695|reactome:R-HSA-72163|reactome:R-HSA-8856828|reactome:R-HSA-8876725|reactome:R-HSA-888590|reactome:R-HSA-9613354|reactome:R-HSA-9613829|reactome:R-HSA-9615710|dip:DIP-32874N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0I+wYut3naJRzzgmMSax/1mZZwA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P02786 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355727|uniprotkb:Q59G55|uniprotkb:Q9UCN0|uniprotkb:Q9UCU5|uniprotkb:Q9UDF9|uniprotkb:Q9UK21|uniprotkb:Q1HE24|uniprotkb:D3DXB0|ensembl:ENSP00000353224|ensembl:ENSP00000376197 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tfr1_human(display_long)|uniprotkb:TFRC(gene name)|psi-mi:TFRC(display_short)|uniprotkb:T9(gene name synonym)|uniprotkb:p90(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001121620.1|refseq:NP_003225.2|refseq:NP_001300894.1|refseq:NP_001300895.1|ensembl:ENSG00000072274(gene)|ensembl:ENST00000360110(transcript)|ensembl:ENST00000392396(transcript)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0004998"(transferrin receptor activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005905"(clathrin-coated pit)|go:"GO:0006826"(iron ion transport)|go:"GO:0006879"(cellular iron ion homeostasis)|go:"GO:0008235"(metalloexopeptidase activity)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0010008"(endosome membrane)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0010637"(negative regulation of mitochondrial fusion)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030316"(osteoclast differentiation)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0030890"(positive regulation of B cell proliferation)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031623"(receptor internalization)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0033572"(transferrin transport)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0035690"|go:"GO:0042102"(positive regulation of T cell proliferation)|go:"GO:0042470"(melanosome)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045780"(positive regulation of bone resorption)|go:"GO:0045830"(positive regulation of isotype switching)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0055037"(recycling endosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:0150104"(transport across blood-brain barrier)|go:"GO:1900182"(positive regulation of protein localization to nucleus)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1990712"(HFE-transferrin receptor complex)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|interpro:IPR003137(Protease-associated PA)|interpro:IPR007365(Transferrin receptor-like, dimerisation)|interpro:IPR007484(Peptidase M28)|interpro:IPR029513|interpro:IPR036757|interpro:IPR037324|interpro:IPR039373|mint:P02786|rcsb pdb:1CX8|rcsb pdb:1DE4|rcsb pdb:1SUV|rcsb pdb:2NSU|rcsb pdb:3KAS|rcsb pdb:3S9L|rcsb pdb:3S9M|rcsb pdb:3S9N|rcsb pdb:6D03|rcsb pdb:6D04|rcsb pdb:6D05|rcsb pdb:6GSR|rcsb pdb:6H5I|rcsb pdb:6OKD|rcsb pdb:6W3H|rcsb pdb:6WRV|rcsb pdb:6WRW|rcsb pdb:6WRX|rcsb pdb:6Y76|reactome:R-HSA-432722|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013406|reactome:R-HSA-9013407|reactome:R-HSA-9013408|reactome:R-HSA-9013409|reactome:R-HSA-9013423|reactome:R-HSA-917977|reactome:R-HSA-9696270|reactome:R-HSA-9696273|dip:DIP-2736N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:TWJEaKElrOrDMMqSefG5icrTbIU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P98175 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-721525|uniprotkb:Q14136|uniprotkb:C4AM81|uniprotkb:Q9BTE4|intact:EBI-1642096|intact:EBI-739959|uniprotkb:Q5JRR2|uniprotkb:Q9BTX0|uniprotkb:Q9NTB1|uniprotkb:A0A0A0MR66|ensembl:ENSP00000366829 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rbm10_human(display_long)|uniprotkb:RNA-binding motif protein 10(gene name synonym)|uniprotkb:G patch domain-containing protein 9(gene name synonym)|uniprotkb:RBM10(gene name)|psi-mi:RBM10(display_short)|uniprotkb:KIAA0122(gene name synonym)|uniprotkb:DXS8237E(gene name synonym)|uniprotkb:GPATC9(gene name synonym)|uniprotkb:GPATCH9(gene name synonym)|uniprotkb:RNA-binding protein S1-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001191395.1|refseq:NP_001191396.1|refseq:NP_005667.2|refseq:NP_690595.1|refseq:NP_001191397.1|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR033095|interpro:IPR034992|interpro:IPR035618|interpro:IPR035979|interpro:IPR036443|interpro:IPR041591|mint:P98175|rcsb pdb:2LXI|rcsb pdb:2M2B|rcsb pdb:2MXV|rcsb pdb:2MXW|rcsb pdb:5ZSW|rcsb pdb:5ZSY|ensembl:ENSG00000182872(gene)|ensembl:ENST00000377604(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016607"(nuclear speck)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034393"(positive regulation of smooth muscle cell apoptotic process)|go:"GO:0035198"(miRNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0048025"(negative regulation of mRNA splicing, via spliceosome)|go:"GO:0070935"(3'-UTR-mediated mRNA stabilization)|interpro:IPR000467(D111/G-patch)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR001876(Zinc finger, RanBP2-type)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LOhPGCjbvCh2MDG5JRHlrMrElW49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P48681 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10966836|ensembl:ENSP00000357206|uniprotkb:Q5SYZ6|uniprotkb:Q3LIF5|uniprotkb:O00552 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nest_human(display_long)|uniprotkb:NES(gene name)|psi-mi:NES(display_short)|uniprotkb:Nbla00170(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006608.1|ensembl:ENSG00000132688(gene)|ensembl:ENST00000368223(transcript)|go:"GO:0000086"(G2/M transition of mitotic cell cycle)|go:"GO:0005737"(cytoplasm)|go:"GO:0005882"(intermediate filament)|go:"GO:0007417"(central nervous system development)|go:"GO:0007420"(brain development)|go:"GO:0019215"(intermediate filament binding)|go:"GO:0030844"(positive regulation of intermediate filament depolymerization)|go:"GO:0031076"(embryonic camera-type eye development)|go:"GO:0031730"(CCR5 chemokine receptor binding)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0043086"(negative regulation of catalytic activity)|go:"GO:0043524"(negative regulation of neuron apoptotic process)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0048858"(cell projection morphogenesis)|go:"GO:0072089"(stem cell proliferation)|go:"GO:2000179"(positive regulation of neural precursor cell proliferation)|interpro:IPR018039|interpro:IPR031211|interpro:IPR039008|mint:P48681 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IEPf+MleiqNi+QAX57rAn4tYId09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P15880 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-443446|ensembl:ENSP00000341885|uniprotkb:Q3MIB1|uniprotkb:B2R5G0|uniprotkb:D3DU82 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs2_human(display_long)|uniprotkb:RPS2(gene name)|psi-mi:RPS2(display_short)|uniprotkb:RPS4(gene name synonym)|uniprotkb:40S ribosomal protein S4(gene name synonym)|uniprotkb:Protein LLRep3(gene name synonym)|uniprotkb:Small ribosomal subunit protein uS5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR014721(Ribosomal protein S5 domain 2-type fold)|rcsb pdb:6OLG|rcsb pdb:6OLI|interpro:IPR018192|rcsb pdb:6OLZ|interpro:IPR020568|mint:P15880|rcsb pdb:4UG0|rcsb pdb:6OM0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6EK0|rcsb pdb:6G18|rcsb pdb:6XA1|rcsb pdb:6G4S|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6G5H|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7JQB|rcsb pdb:7JQC|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-3214858|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-8876725|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:7A09|ensembl:ENSG00000140988(gene)|ensembl:ENST00000343262(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0017134"(fibroblast growth factor binding)|go:"GO:0019899"(enzyme binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0045296"(cadherin binding)|go:"GO:0051443"(positive regulation of ubiquitin-protein transferase activity)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000851(Ribosomal protein S5)|interpro:IPR005324(Ribosomal protein S5, C-terminal)|interpro:IPR005711(Ribosomal protein S5, eukaryotic/archaeal)|interpro:IPR013810(Ribosomal protein S5, N-terminal)|refseq:NP_002943.2 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JUr2Y3cGk00S8KaTVPymshfaHhc9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P39023 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1056348|uniprotkb:Q15548|uniprotkb:Q5I0G0|uniprotkb:B2RDV9|ensembl:ENSP00000346001 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl3_human(display_long)|uniprotkb:RPL3(gene name)|psi-mi:RPL3(display_short)|uniprotkb:HIV-1 TAR RNA-binding protein B(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL3(gene name synonym)|uniprotkb:OK/SW-cl.32(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000958.1|ensembl:ENSG00000100316(gene)|ensembl:ENST00000216146(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0032991"(protein-containing complex)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071353"(cellular response to interleukin-4)|interpro:IPR000597(Ribosomal protein L3)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR019926|mint:P39023|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:j3MVAYfO/bziJBPmH4zCFqFskZ89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BQA1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1237307|uniprotkb:B3KMW6|uniprotkb:Q96GK4|uniprotkb:Q9BWY3|uniprotkb:Q3LID2|uniprotkb:Q53FU2|uniprotkb:Q6JZZ5|uniprotkb:B4DP38|ensembl:ENSP00000235090 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mep50_human(display_long)|uniprotkb:WDR77(gene name)|psi-mi:WDR77(display_short)|uniprotkb:MEP50(gene name synonym)|uniprotkb:WD repeat-containing protein 77(gene name synonym)|uniprotkb:Androgen receptor cofactor p44(gene name synonym)|uniprotkb:p44/Mep50(gene name synonym)|uniprotkb:HKMT1069(orf name)|uniprotkb:Nbla10071(orf name)|uniprotkb:WD45(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_077007.1|refseq:NP_001303991.1|refseq:NP_001303992.1|refseq:NP_001303993.1|dip:DIP-38172N|ensembl:ENSG00000116455(gene)|ensembl:ENST00000235090(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007315"(pole plasm assembly)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008327"(methyl-CpG binding)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0034709"(methylosome)|go:"GO:0045495"(pole plasm)|go:"GO:0060528"(secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development)|go:"GO:0060770"(negative regulation of epithelial cell proliferation involved in prostate gland development)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR036322|mint:Q9BQA1|rcsb pdb:4GQB|rcsb pdb:4X60|rcsb pdb:4X61|rcsb pdb:4X63|rcsb pdb:5C9Z|rcsb pdb:5EMJ|rcsb pdb:5EMK|rcsb pdb:5EML|rcsb pdb:5EMM|rcsb pdb:5FA5|rcsb pdb:6CKC|rcsb pdb:6K1S|rcsb pdb:6RLL|rcsb pdb:6RLQ|rcsb pdb:6UGH|rcsb pdb:6UXX|rcsb pdb:6UXY|rcsb pdb:6V0N|rcsb pdb:6V0O|rcsb pdb:6V0P|rcsb pdb:7KIB|rcsb pdb:7KIC|rcsb pdb:7KID|rcsb pdb:7L1G|rcsb pdb:7M05|reactome:R-HSA-191859|reactome:R-HSA-3214858 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0q4wunYtHalObC8r1wphhelIpr49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P19338 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-346967|uniprotkb:Q53SK1|uniprotkb:Q8NB06|uniprotkb:Q9UDG1|uniprotkb:Q9UCF0|intact:EBI-352553|ensembl:ENSP00000318195 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nucl_human(display_long)|uniprotkb:NCL(gene name)|psi-mi:NCL(display_short)|uniprotkb:Protein C23(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005372.2|dip:DIP-89N|ensembl:ENSG00000115053(gene)|ensembl:ENST00000322723(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005938"(cell cortex)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042162"(telomeric DNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0044547"(DNA topoisomerase binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071364"(cellular response to epidermal growth factor stimulus)|go:"GO:1901838"(positive regulation of transcription of nucleolar large rRNA by RNA polymerase I)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR003954(RNA recognition, region 1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034230|interpro:IPR034233|interpro:IPR034234|interpro:IPR034235|interpro:IPR035979|mint:P19338|rcsb pdb:2FC8|rcsb pdb:2FC9|rcsb pdb:2KRR|reactome:R-HSA-6791226 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PbsEnzoLR4dES5SnMwx08Hr6yeo9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P63244 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-296739|ensembl:ENSP00000426909|uniprotkb:P25388|uniprotkb:P99049|intact:EBI-923003|uniprotkb:B3KTJ0|uniprotkb:Q53HU2|uniprotkb:Q5J8M6|uniprotkb:Q5VLR4|uniprotkb:Q6FH47|intact:EBI-2559282|uniprotkb:D3DWS0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rack1_human(display_long)|uniprotkb:Small ribosomal subunit protein RACK1(gene name synonym)|uniprotkb:HLC7(orf name)|uniprotkb:PIG21(orf name)|uniprotkb:RACK1(gene name)|psi-mi:RACK1(display_short)|uniprotkb:Cell proliferation-inducing gene 21 protein(gene name synonym)|uniprotkb:GNB2L1(gene name synonym)|uniprotkb:Guanine nucleotide-binding protein subunit beta-2-like 1(gene name synonym)|uniprotkb:Guanine nucleotide-binding protein subunit beta-like protein 12.3(gene name synonym)|uniprotkb:Human lung cancer oncogene 7 protein(gene name synonym)|uniprotkb:Receptor for activated C kinase(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:4AOW|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|mint:P63244|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|ensembl:ENSG00000204628(gene)|ensembl:ENST00000512805(transcript)|go:"GO:0001891"(phagocytic cup)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|go:"GO:0006919"(activation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0007049"(cell cycle)|go:"GO:0007369"(gastrulation)|go:"GO:0008200"(ion channel inhibitor activity)|go:"GO:0008656"(cysteine-type endopeptidase activator activity involved in apoptotic process)|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-5357905|reactome:R-HSA-5357956|reactome:R-HSA-5626978|rcsb pdb:6ZUO|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0019899"(enzyme binding)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0030178"(negative regulation of Wnt signaling pathway)|go:"GO:0030292"(protein tyrosine kinase inhibitor activity)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0030332"(cyclin binding)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030425"(dendrite)|go:"GO:0030496"(midbody)|go:"GO:0030971"(receptor tyrosine kinase binding)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032436"(positive regulation of proteasomal ubiquitin-dependent protein catabolic process)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0033137"(negative regulation of peptidyl-serine phosphorylation)|go:"GO:0035591"(signaling adaptor activity)|go:"GO:0042169"(SH2 domain binding)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043022"(ribosome binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0042998"(positive regulation of Golgi to plasma membrane protein transport)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043204"(perikaryon)|go:"GO:0043473"(pigmentation)|go:"GO:0043547"(positive regulation of GTPase activity)|go:"GO:0045296"(cadherin binding)|go:"GO:0045879"(negative regulation of smoothened signaling pathway)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048511"(rhythmic process)|go:"GO:0050765"(negative regulation of phagocytosis)|go:"GO:0051302"(regulation of cell division)|go:"GO:0051343"(positive regulation of cyclic-nucleotide phosphodiesterase activity)|go:"GO:0051434"(BH3 domain binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0051898"(negative regulation of protein kinase B signaling)|go:"GO:0051901"(positive regulation of mitochondrial depolarization)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071333"(cellular response to glucose stimulus)|go:"GO:0071363"(cellular response to growth factor stimulus)|go:"GO:0072344"(rescue of stalled ribosome)|go:"GO:1900102"(negative regulation of endoplasmic reticulum unfolded protein response)|go:"GO:1903208"(negative regulation of hydrogen peroxide-induced neuron death)|go:"GO:1990630"(IRE1-RACK1-PP2A complex)|go:"GO:2000114"(regulation of establishment of cell polarity)|go:"GO:2000543"(positive regulation of gastrulation)|go:"GO:2001244"(positive regulation of intrinsic apoptotic signaling pathway)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR020472|interpro:IPR036322|go:"GO:0060090"(molecular adaptor activity)|refseq:NP_006089.1|dip:DIP-46736N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LXHlhPtxUzHJNncoPteGw2iXsFg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P07355 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352622|uniprotkb:Q567R4|uniprotkb:Q96DD5|intact:EBI-2211824|uniprotkb:Q6N0B3|uniprotkb:Q8TBV2|uniprotkb:Q9UDH8|ensembl:ENSP00000379342|ensembl:ENSP00000387545|ensembl:ENSP00000411352|ensembl:ENSP00000452858|ensembl:ENSP00000452895|ensembl:ENSP00000452981|ensembl:ENSP00000453694|ensembl:ENSP00000453859|ensembl:ENSP00000503447|ensembl:ENSP00000503757|ensembl:ENSP00000503855|ensembl:ENSP00000504035|ensembl:ENSP00000504164 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:anxa2_human(display_long)|uniprotkb:ANXA2(gene name)|psi-mi:ANXA2(display_short)|uniprotkb:ANX2(gene name synonym)|uniprotkb:ANX2L4(gene name synonym)|uniprotkb:CAL1H(gene name synonym)|uniprotkb:LPC2D(gene name synonym)|uniprotkb:Annexin-2(gene name synonym)|uniprotkb:Annexin II(gene name synonym)|uniprotkb:Lipocortin II(gene name synonym)|uniprotkb:Calpactin I heavy chain(gene name synonym)|uniprotkb:Chromobindin-8(gene name synonym)|uniprotkb:p36(gene name synonym)|uniprotkb:Protein I(gene name synonym)|uniprotkb:Placental anticoagulant protein IV(gene name synonym)|uniprotkb:Calpactin-1 heavy chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001002857.1|refseq:NP_001002858.1|refseq:NP_001129487.1|refseq:NP_004030.1|refseq:XP_016877579.1|refseq:XP_016877580.1|ensembl:ENSG00000182718(gene)|ensembl:ENST00000396024(transcript)|ensembl:ENST00000421017(transcript)|ensembl:ENST00000451270(transcript)|ensembl:ENST00000557906(transcript)|ensembl:ENST00000558558(transcript)|ensembl:ENST00000559818(transcript)|ensembl:ENST00000559956(transcript)|ensembl:ENST00000560468(transcript)|ensembl:ENST00000677968(transcript)|ensembl:ENST00000678061(transcript)|ensembl:ENST00000678450(transcript)|ensembl:ENST00000678870(transcript)|ensembl:ENST00000679109(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001726"(ruffle)|go:"GO:0001765"(membrane raft assembly)|go:"GO:0001786"(phosphatidylserine binding)|go:"GO:0001921"(positive regulation of receptor recycling)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0002020"(protease binding)|go:"GO:0003723"(RNA binding)|go:"GO:0004867"(serine-type endopeptidase inhibitor activity)|go:"GO:0005262"(calcium channel activity)|go:"GO:0005544"(calcium-dependent phospholipid binding)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005604"(basement membrane)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005938"(cell cortex)|go:"GO:0006900"(vesicle budding from membrane)|go:"GO:0007589"(body fluid secretion)|go:"GO:0008092"(cytoskeletal protein binding)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019834"(phospholipase A2 inhibitor activity)|go:"GO:0019897"(extrinsic component of plasma membrane)|go:"GO:0030199"(collagen fibril organization)|go:"GO:0030496"(midbody)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031340"(positive regulation of vesicle fusion)|go:"GO:0031902"(late endosome membrane)|go:"GO:0031982"(vesicle)|go:"GO:0032804"(negative regulation of low-density lipoprotein particle receptor catabolic process)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0035749"(myelin sheath adaxonal region)|go:"GO:0036035"(osteoclast development)|go:"GO:0042383"(sarcolemma)|go:"GO:0042470"(melanosome)|go:"GO:0042730"(fibrinolysis)|go:"GO:0042802"(identical protein binding)|go:"GO:0043220"(Schmidt-Lanterman incisure)|go:"GO:0044090"(positive regulation of vacuole organization)|go:"GO:0044354"(macropinosome)|go:"GO:0044548"(S100 protein binding)|go:"GO:0044730"(bone sialoprotein binding)|go:"GO:0045121"(membrane raft)|go:"GO:0046790"(virion binding)|go:"GO:0048146"(positive regulation of fibroblast proliferation)|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0005509"(calcium ion binding)|rcsb pdb:2HYU|rcsb pdb:2HYV|rcsb pdb:2HYW|rcsb pdb:4DRW|rcsb pdb:4FTG|rcsb pdb:4HRH|rcsb pdb:5LPU|rcsb pdb:5LPX|rcsb pdb:5LQ0|rcsb pdb:5LQ2|rcsb pdb:5N7D|rcsb pdb:5N7F|rcsb pdb:5N7G|rcsb pdb:6TWQ|rcsb pdb:6TWU|rcsb pdb:6TWX|rcsb pdb:6TWY|reactome:R-HSA-445355|reactome:R-HSA-6798695|reactome:R-HSA-75205|reactome:R-HSA-8950505|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|go:"GO:1905581"(positive regulation of low-density lipoprotein particle clearance)|go:"GO:1905597"(positive regulation of low-density lipoprotein particle receptor binding)|go:"GO:1905599"(positive regulation of low-density lipoprotein receptor activity)|go:"GO:1905602"(positive regulation of receptor-mediated endocytosis involved in cholesterol transport)|go:"GO:1990665"(AnxA2-p11 complex)|go:"GO:1990667"(PCSK9-AnxA2 complex)|interpro:IPR001464(Annexin)|interpro:IPR002389(Annexin, type II)|interpro:IPR018252|interpro:IPR018502|interpro:IPR037104|mint:P07355|rcsb pdb:1W7B|rcsb pdb:1XJL|go:"GO:0097066"(response to thyroid hormone) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:jcB4Dt0LFv8YaBUnC2BSTCshveg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y4I1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1054086|uniprotkb:O60653|uniprotkb:Q07902|uniprotkb:Q16249|uniprotkb:Q9UE30|uniprotkb:Q9UE31|uniprotkb:A8MZC5|ensembl:ENSP00000382177 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myo5a_human(display_long)|uniprotkb:Dilute myosin heavy chain, non-muscle(gene name synonym)|uniprotkb:Myosin heavy chain 12(gene name synonym)|uniprotkb:Myoxin(gene name synonym)|uniprotkb:MYO5A(gene name)|psi-mi:MYO5A(display_short)|uniprotkb:MYH12(gene name synonym)|uniprotkb:Myosin-12(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000250.3|refseq:XP_005254454.1|ensembl:ENSG00000197535(gene)|ensembl:ENST00000399231(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0001726"(ruffle)|go:"GO:0003723"(RNA binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006892"(post-Golgi vesicle-mediated transport)|go:"GO:0007015"(actin filament organization)|go:"GO:0015031"(protein transport)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0016459"(myosin complex)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030050"(vesicle transport along actin filament)|go:"GO:0030426"(growth cone)|go:"GO:0031267"(small GTPase binding)|go:"GO:0032402"(melanosome transport)|go:"GO:0032433"(filopodium tip)|go:"GO:0032593"(insulin-responsive compartment)|go:"GO:0032869"(cellular response to insulin stimulus)|go:"GO:0042470"(melanosome)|go:"GO:0043005"(neuron projection)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002710(Dilute)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR027417|interpro:IPR036103|interpro:IPR036961|interpro:IPR037988|mint:Q9Y4I1|rcsb pdb:4D07|rcsb pdb:4J5L|rcsb pdb:4LLI|rcsb pdb:4LX1|rcsb pdb:4LX2|rcsb pdb:5JCY|rcsb pdb:5JCZ|reactome:R-HSA-1445148|reactome:R-HSA-2029482|reactome:R-HSA-264876|reactome:R-HSA-9664422 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:z4bbPG/RrXSmBWT6I0nbIztGp809606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04843 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355963|ensembl:ENSP00000296255|uniprotkb:D3DNB6|uniprotkb:Q68DT1|uniprotkb:B2R5Z0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rpn1_human(display_long)|uniprotkb:RPN1(gene name)|psi-mi:RPN1(display_short)|uniprotkb:Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 67 kDa subunit(gene name synonym)|uniprotkb:Ribophorin-1(gene name synonym)|uniprotkb:Ribophorin I(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000163902(gene)|ensembl:ENST00000296255(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006487"(protein N-linked glycosylation)|go:"GO:0008250"(oligosaccharyltransferase complex)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0018279"(protein N-linked glycosylation via asparagine)|go:"GO:0042470"(melanosome)|interpro:IPR007676(Ribophorin I)|mint:P04843|rcsb pdb:6S7O|rcsb pdb:6S7T|reactome:R-HSA-1799339|reactome:R-HSA-446203|reactome:R-HSA-9694548|go:"GO:0006464"(cellular protein modification process)|refseq:NP_002941.1|dip:DIP-38152N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rvQThNB/dCCNR9+IDssZo1qgZUE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P27824 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355947|uniprotkb:D3DWQ3|uniprotkb:B2R5V8|ensembl:ENSP00000421434|ensembl:ENSP00000421813|ensembl:ENSP00000424063|ensembl:ENSP00000424745|ensembl:ENSP00000491760|ensembl:ENSP00000492372|ensembl:ENSP00000492868|ensembl:ENSP00000505013|ensembl:ENSP00000505202|ensembl:ENSP00000505526|ensembl:ENSP00000505960|ensembl:ENSP00000506003|ensembl:ENSP00000506021|ensembl:ENSP00000506061|ensembl:ENSP00000506078|ensembl:ENSP00000506509|ensembl:ENSP00000506568|ensembl:ENSP00000506583|ensembl:ENSP00000247461|ensembl:ENSP00000391646|intact:EBI-9513217|uniprotkb:B4DGP8|uniprotkb:B4E2T8|uniprotkb:D6R9K3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:calx_human(display_long)|uniprotkb:CANX(gene name)|psi-mi:CANX(display_short)|uniprotkb:Major histocompatibility complex class I antigen-binding protein p88(gene name synonym)|uniprotkb:p90(gene name synonym)|uniprotkb:IP90(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001019820.1|refseq:NP_001737.1|refseq:XP_011532967.1|go:"GO:0099059"(integral component of presynaptic active zone membrane)|interpro:IPR001580(Calreticulin/calnexin)|interpro:IPR009033(Calreticulin/calnexin, P)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR018124|mint:P27824|reactome:R-HSA-168316|reactome:R-HSA-2132295|reactome:R-HSA-8984722|reactome:R-HSA-901042|reactome:R-HSA-9020956|reactome:R-HSA-9683686|reactome:R-HSA-9694548|reactome:R-HSA-983170|ensembl:ENST00000452673(transcript)|ensembl:ENST00000502296(transcript)|ensembl:ENST00000504734(transcript)|ensembl:ENST00000509563(transcript)|ensembl:ENST00000513246(transcript)|ensembl:ENST00000638425(transcript)|ensembl:ENST00000638706(transcript)|ensembl:ENST00000639938(transcript)|ensembl:ENST00000680013(transcript)|ensembl:ENST00000680042(transcript)|ensembl:ENST00000680092(transcript)|ensembl:ENST00000680618(transcript)|ensembl:ENST00000681072(transcript)|ensembl:ENST00000681168(transcript)|ensembl:ENST00000681476(transcript)|ensembl:ENST00000681674(transcript)|ensembl:ENST00000681712(transcript)|ensembl:ENST00000681733(transcript)|ensembl:ENST00000681903(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005790"(smooth endoplasmic reticulum)|ensembl:ENST00000247461(transcript)|go:"GO:0005840"(ribosome)|go:"GO:0006457"(protein folding)|go:"GO:0007568"(aging)|go:"GO:0009306"(protein secretion)|go:"GO:0016020"(membrane)|go:"GO:0019082"(viral protein processing)|go:"GO:0030246"(carbohydrate binding)|go:"GO:0030424"(axon)|go:"GO:0030968"(endoplasmic reticulum unfolded protein response)|go:"GO:0032839"(dendrite cytoplasm)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034185"(apolipoprotein binding)|go:"GO:0034975"(protein folding in endoplasmic reticulum)|go:"GO:0035255"(ionotropic glutamate receptor binding)|go:"GO:0042470"(melanosome)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0044233"(mitochondria-associated endoplasmic reticulum membrane)|go:"GO:0044322"(endoplasmic reticulum quality control compartment)|go:"GO:0048488"(synaptic vesicle endocytosis)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071556"(integral component of lumenal side of endoplasmic reticulum membrane)|go:"GO:0072583"(clathrin-dependent endocytosis)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099055"(integral component of postsynaptic membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|ensembl:ENSG00000127022(gene)|ensembl:ENSG00000283777(gene)|dip:DIP-457N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Vy9HZjl19IXifyFpueW0LXi9ENk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13045 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351549|ensembl:ENSP00000491480|ensembl:ENSP00000324573|uniprotkb:B4DIL0|uniprotkb:F5H407|uniprotkb:J3QLG3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:flii_human(display_long)|uniprotkb:FLII(gene name)|psi-mi:FLII(display_short)|uniprotkb:FLIL(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002009.1|refseq:NP_001243193.1|ensembl:ENST00000327031(transcript)|ensembl:ENST00000638207(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005903"(brush border)|go:"GO:0005925"(focal adhesion)|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030239"(myofibril assembly)|go:"GO:0034451"(centriolar satellite)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR003591(Leucine-rich repeat, typical subtype)|interpro:IPR007122(Gelsolin)|interpro:IPR007123(Gelsolin region)|interpro:IPR029006|interpro:IPR029919|interpro:IPR032675|mint:Q13045|ensembl:ENSG00000177731(gene)|ensembl:ENSG00000284571(gene)|refseq:NP_001243194.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:hzls0Ir+lr0+wNsTUeIURV3fXVQ9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NYL9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352614|ensembl:ENSP00000308753|uniprotkb:Q9NT43|uniprotkb:Q9NZR0|uniprotkb:B2R6G7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tmod3_human(display_long)|uniprotkb:TMOD3(gene name)|psi-mi:TMOD3(display_short)|uniprotkb:Ubiquitous tropomodulin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138594(gene)|ensembl:ENST00000308580(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005523"(tropomyosin binding)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005865"(striated muscle thin filament)|go:"GO:0005912"(adherens junction)|go:"GO:0006936"(muscle contraction)|go:"GO:0007015"(actin filament organization)|go:"GO:0030016"(myofibril)|go:"GO:0030239"(myofibril assembly)|refseq:NP_055362.1|go:"GO:0048821"(erythrocyte development)|go:"GO:0051694"(pointed-end actin filament capping)|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|go:"GO:1901992"(positive regulation of mitotic cell cycle phase transition)|interpro:IPR004934(Tropomodulin)|interpro:IPR030133|interpro:IPR032675|mint:Q9NYL9|reactome:R-HSA-390522|reactome:R-HSA-9013418|reactome:R-HSA-9696264|refseq:XP_016877576.1|refseq:XP_016877577.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:crEfCAAepSPAE8ByBpD4Sr14P5I9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8N3V7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352936|intact:EBI-28982054|ensembl:ENSP00000377789|ensembl:ENSP00000428378|uniprotkb:O15271|uniprotkb:Q9UPX1|uniprotkb:A5PKZ8|uniprotkb:D3DQG8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:synpo_human(display_long)|uniprotkb:SYNPO(gene name)|psi-mi:SYNPO(display_short)|uniprotkb:KIAA1029(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000171992(gene)|ensembl:ENST00000394243(transcript)|ensembl:ENST00000522122(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030018"(Z disc)|go:"GO:0032233"(positive regulation of actin filament bundle assembly)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0051492"(regulation of stress fiber assembly)|go:"GO:0097444"(spine apparatus)|go:"GO:1905355"(spine apparatus assembly)|interpro:IPR028753|mint:Q8N3V7|go:"GO:0098886"(modification of dendritic spine)|refseq:NP_001103444.1|refseq:NP_001159680.1|refseq:NP_001159681.1|refseq:NP_009217.3|ensembl:ENST00000307662|ensembl:ENSP00000302139|ensembl:ENSP00000377789|ensembl:ENST00000519664|ensembl:ENSP00000429268|ensembl:ENSP00000428378|refseq:XP_011535854.1|refseq:XP_005268427.1|refseq:XP_005268428.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rCCRVthnF+JTqcwh9lD+GFoWIpo9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9P0K7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1023749|uniprotkb:Q6V1W9|uniprotkb:Q7Z5I4|uniprotkb:Q7Z733|uniprotkb:Q9P2L2|uniprotkb:Q9Y3T5|uniprotkb:E9PED3|intact:EBI-2555698|ensembl:ENSP00000265109|ensembl:ENSP00000388725|ensembl:ENSP00000422942 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rai14_human(display_long)|uniprotkb:Ankyrin repeat and coiled-coil structure-containing protein(gene name synonym)|uniprotkb:Retinoic acid-induced protein 14(gene name synonym)|uniprotkb:Novel retinal pigment epithelial cell protein(gene name synonym)|uniprotkb:RAI14(gene name)|psi-mi:RAI14(display_short)|uniprotkb:KIAA1334(gene name synonym)|uniprotkb:NORPEG(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001138992.1|refseq:NP_001138993.1|refseq:NP_001138994.1|refseq:NP_001138995.1|refseq:NP_001138997.1|refseq:NP_056392.2|refseq:XP_011512319.1|refseq:XP_011512320.1|refseq:XP_011512321.1|refseq:XP_011512322.1|refseq:XP_011512323.1|refseq:XP_011512324.1|ensembl:ENSG00000039560(gene)|ensembl:ENST00000265109(transcript)|ensembl:ENST00000428746(transcript)|ensembl:ENST00000503673(transcript)|go:"GO:0001650"(fibrillar center)|go:"GO:0003779"(actin binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005938"(cell cortex)|go:"GO:0007283"(spermatogenesis)|go:"GO:0030054"(cell junction)|go:"GO:0030154"(cell differentiation)|interpro:IPR002110(Ankyrin)|interpro:IPR020683|interpro:IPR036770|interpro:IPR042420|mint:Q9P0K7|refseq:XP_006714532.1|refseq:XP_016864824.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:m5hQYx6HEi9QEAey1UiNpeAp6tw9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P33778 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357986|uniprotkb:Q4KN36|ensembl:ENSP00000482674 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2b1b_human(display_long)|uniprotkb:H2BC3(gene name)|psi-mi:H2BC3(display_short)|uniprotkb:H2B-clustered histone 3(gene name synonym)|uniprotkb:H2BFF(gene name synonym)|uniprotkb:HIST1H2BB(gene name synonym)|uniprotkb:Histone H2B.1(gene name synonym)|uniprotkb:Histone H2B.f(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_066406.1|dip:DIP-47505N|ensembl:ENSG00000276410(gene)|ensembl:ENST00000615966(transcript)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0046982"(protein heterodimerization activity)|interpro:IPR000558(Histone H2B)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|mint:P33778|rcsb pdb:3X1S|rcsb pdb:3X1U|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214815|reactome:R-HSA-3214847|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-5689880|reactome:R-HSA-5693565|reactome:R-HSA-5693571|reactome:R-HSA-5693607|reactome:R-HSA-606279|reactome:R-HSA-69473|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8866654|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9609690|reactome:R-HSA-9610379|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-977225 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:l15lrchv4onuihbdZ+yWJQd35Ss9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14974 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351726|uniprotkb:Q2NKL4|uniprotkb:Q569H0|uniprotkb:Q86WU3|uniprotkb:Q8NFR6|uniprotkb:Q9BYH0|intact:EBI-28988491|uniprotkb:B4DZ09|uniprotkb:F8VWB4|ensembl:ENSP00000261207|ensembl:ENSP00000389168 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mypt1_human(display_long)|uniprotkb:PPP1R12A(gene name)|psi-mi:PPP1R12A(display_short)|uniprotkb:MBS(gene name synonym)|uniprotkb:MYPT1(gene name synonym)|uniprotkb:Myosin phosphatase-targeting subunit 1(gene name synonym)|uniprotkb:Protein phosphatase myosin-binding subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001137357.1|refseq:NP_001137358.1|refseq:NP_002471.1|refseq:NP_001231919.1|refseq:NP_001231921.1|refseq:XP_011536685.1|ensembl:ENSP00000261207|ensembl:ENST00000437004|ensembl:ENSP00000416769|ensembl:ENSP00000389168|ensembl:ENSP00000449514|ensembl:ENST00000550107|ensembl:ENSP00000446855|ensembl:ENST00000546369|dip:DIP-33186N|ensembl:ENSG00000058272(gene)|ensembl:ENST00000261207(transcript)|ensembl:ENST00000450142(transcript)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0000776"(kinetochore)|go:"GO:0004857"(enzyme inhibitor activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007098"(centrosome cycle)|go:"GO:0007165"(signal transduction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0019208"(phosphatase regulator activity)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030018"(Z disc)|go:"GO:0030155"(regulation of cell adhesion)|go:"GO:0031672"(A band)|go:"GO:0035507"(regulation of myosin-light-chain-phosphatase activity)|go:"GO:0035508"(positive regulation of myosin-light-chain-phosphatase activity)|go:"GO:0035690"|go:"GO:0043086"(negative regulation of catalytic activity)|go:"GO:0043292"(contractile fiber)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046822"(regulation of nucleocytoplasmic transport)|go:"GO:0071889"(14-3-3 protein binding)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|interpro:IPR002110(Ankyrin)|interpro:IPR017401(Protein phosphatase 1, regulatory subunits 12A/B/C, eukaryote)|interpro:IPR020683|interpro:IPR031775|interpro:IPR036770|mint:O14974|rcsb pdb:2KJY|rcsb pdb:5HUZ|reactome:R-HSA-2565942|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Xi5lGskc0tWQCHtbYlgR45ERMSk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62805 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-302023|ensembl:ENSP00000244537|ensembl:ENSP00000347168|ensembl:ENSP00000350767|ensembl:ENSP00000366974|ensembl:ENSP00000366956|ensembl:ENSP00000462667|ensembl:ENSP00000367034|ensembl:ENSP00000478519|ensembl:ENSP00000478786|ensembl:ENSP00000443017|ensembl:ENSP00000462355|ensembl:ENSP00000479106|ensembl:ENSP00000479461|uniprotkb:A2VCL0|uniprotkb:P02304|uniprotkb:P02305|uniprotkb:Q6DRA9|uniprotkb:Q6FGB8|uniprotkb:Q6NWP7|ensembl:ENSP00000479794|ensembl:ENSP00000480960|ensembl:ENSP00000481343|ensembl:ENSP00000481486|ensembl:ENSP00000481507|ensembl:ENSP00000482412|ensembl:ENSP00000484789|ensembl:ENSP00000489319|ensembl:ENSP00000489567 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h4_human(display_long)|uniprotkb:H4-16(gene name)|psi-mi:H4-16(display_short)|uniprotkb:H4C1(gene name)|psi-mi:H4C1(display_short)|uniprotkb:H4C11(gene name)|psi-mi:H4C11(display_short)|uniprotkb:H4C12(gene name)|psi-mi:H4C12(display_short)|uniprotkb:H4C13(gene name)|psi-mi:H4C13(display_short)|uniprotkb:H4C14(gene name)|psi-mi:H4C14(display_short)|uniprotkb:H4C15(gene name)|psi-mi:H4C15(display_short)|uniprotkb:H4C2(gene name)|psi-mi:H4C2(display_short)|uniprotkb:H4C3(gene name)|psi-mi:H4C3(display_short)|uniprotkb:H4C4(gene name)|psi-mi:H4C4(display_short)|uniprotkb:H4C5(gene name)|psi-mi:H4C5(display_short)|uniprotkb:H4C6(gene name)|psi-mi:H4C6(display_short)|uniprotkb:H4C8(gene name)|psi-mi:H4C8(display_short)|uniprotkb:H4C9(gene name)|psi-mi:H4C9(display_short)|uniprotkb:H4/A(gene name synonym)|uniprotkb:H4/B(gene name synonym)|uniprotkb:H4/C(gene name synonym)|uniprotkb:H4/D(gene name synonym)|uniprotkb:H4/E(gene name synonym)|uniprotkb:H4/G(gene name synonym)|uniprotkb:H4/H(gene name synonym)|uniprotkb:H4/I(gene name synonym)|uniprotkb:H4/J(gene name synonym)|uniprotkb:H4/K(gene name synonym)|uniprotkb:H4/M(gene name synonym)|uniprotkb:H4/N(gene name synonym)|uniprotkb:H4/O(gene name synonym)|uniprotkb:H4F2(gene name synonym)|uniprotkb:H4FA(gene name synonym)|uniprotkb:H4FB(gene name synonym)|uniprotkb:H4FC(gene name synonym)|uniprotkb:H4FD(gene name synonym)|uniprotkb:H4FE(gene name synonym)|uniprotkb:H4FG(gene name synonym)|uniprotkb:H4FH(gene name synonym)|uniprotkb:H4FI(gene name synonym)|uniprotkb:H4FJ(gene name synonym)|uniprotkb:H4FK(gene name synonym)|uniprotkb:H4FM(gene name synonym)|uniprotkb:H4FN(gene name synonym)|uniprotkb:H4FO(gene name synonym)|uniprotkb:HIST1H4A(gene name synonym)|uniprotkb:HIST1H4B(gene name synonym)|uniprotkb:HIST1H4C(gene name synonym)|uniprotkb:HIST1H4D(gene name synonym)|uniprotkb:HIST1H4E(gene name synonym)|uniprotkb:HIST1H4F(gene name synonym)|uniprotkb:HIST1H4H(gene name synonym)|uniprotkb:HIST1H4I(gene name synonym)|uniprotkb:HIST1H4J(gene name synonym)|uniprotkb:HIST1H4K(gene name synonym)|uniprotkb:HIST1H4L(gene name synonym)|uniprotkb:HIST2H4(gene name synonym)|uniprotkb:HIST2H4A(gene name synonym)|uniprotkb:HIST2H4B(gene name synonym)|uniprotkb:HIST4H4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000197061(gene)|ensembl:ENSG00000276180(gene)|ensembl:ENSG00000197238(gene)|ensembl:ENSG00000276966(gene)|ensembl:ENSG00000277157(gene)|ensembl:ENSG00000270276(gene)|ensembl:ENSG00000197837(gene)|ensembl:ENSG00000270882(gene)|ensembl:ENSG00000278637(gene)|ensembl:ENSG00000273542(gene)|ensembl:ENSG00000274618(gene)|ensembl:ENSG00000278705(gene)|ensembl:ENSG00000275126(gene)|ensembl:ENSG00000158406(gene)|dip:DIP-33079N|ensembl:ENST00000244537(transcript)|ensembl:ENST00000355057(transcript)|ensembl:ENST00000358064(transcript)|ensembl:ENST00000377727(transcript)|ensembl:ENST00000377745(transcript)|ensembl:ENST00000377803(transcript)|ensembl:ENST00000539745(transcript)|ensembl:ENST00000578186(transcript)|ensembl:ENST00000579512(transcript)|ensembl:ENST00000611927(transcript)|ensembl:ENST00000612061(transcript)|ensembl:ENST00000613412(transcript)|ensembl:ENST00000614247(transcript)|ensembl:ENST00000614272(transcript)|ensembl:ENST00000615164(transcript)|ensembl:ENST00000615353(transcript)|ensembl:ENST00000617569(transcript)|ensembl:ENST00000618193(transcript)|ensembl:ENST00000618305(transcript)|ensembl:ENST00000621520(transcript)|ensembl:ENST00000634560(transcript)|ensembl:ENST00000634956(transcript)|go:"GO:0000228"(nuclear chromosome)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0006335"(DNA replication-dependent chromatin assembly)|go:"GO:0006336"(DNA replication-independent chromatin assembly)|go:"GO:0006352"(DNA-templated transcription, initiation)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0032200"(telomere organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0045653"(negative regulation of megakaryocyte differentiation)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0005576"(extracellular region)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001951(Histone H4)|interpro:IPR004823("TATA box binding protein associated factor (TAF)")|rcsb pdb:3AZE|rcsb pdb:3AZF|rcsb pdb:3AZG|rcsb pdb:3AZH|rcsb pdb:3AZI|rcsb pdb:3AYW|rcsb pdb:3AZJ|rcsb pdb:3AZK|rcsb pdb:3AZL|rcsb pdb:3AZM|rcsb pdb:3AZN|rcsb pdb:3CFS|rcsb pdb:3CFV|rcsb pdb:3F9W|rcsb pdb:3F9X|rcsb pdb:3F9Y|rcsb pdb:3F9Z|rcsb pdb:3IJ1|rcsb pdb:3JPX|rcsb pdb:3NQJ|rcsb pdb:3NQU|rcsb pdb:3O36|rcsb pdb:3QBY|rcsb pdb:3QZS|rcsb pdb:3QZT|rcsb pdb:3QZV|rcsb pdb:3R45|rcsb pdb:3UVW|rcsb pdb:3UVX|rcsb pdb:3UVY|rcsb pdb:3UW9|rcsb pdb:3W96|rcsb pdb:3W97|rcsb pdb:3W98|rcsb pdb:3W99|rcsb pdb:3WA9|rcsb pdb:3WAA|rcsb pdb:3WKJ|rcsb pdb:3WTP|rcsb pdb:3X1S|rcsb pdb:3X1T|rcsb pdb:3X1U|rcsb pdb:3X1V|rcsb pdb:4GQB|rcsb pdb:4H9N|rcsb pdb:4H9O|rcsb pdb:4H9P|rcsb pdb:4H9Q|rcsb pdb:4H9R|rcsb pdb:4H9S|rcsb pdb:4HGA|rcsb pdb:4M38|rcsb pdb:4N3W|rcsb pdb:4N4F|rcsb pdb:4QUT|rcsb pdb:4QUU|rcsb pdb:4QYD|rcsb pdb:4U9W|rcsb pdb:4YM5|rcsb pdb:4YM6|rcsb pdb:4YY6|rcsb pdb:4YYD|rcsb pdb:4YYG|rcsb pdb:4YYH|rcsb pdb:4YYI|rcsb pdb:4YYJ|rcsb pdb:4YYK|rcsb pdb:4YYM|rcsb pdb:4YYN|rcsb pdb:4Z2M|rcsb pdb:4Z5T|rcsb pdb:5AV5|rcsb pdb:5AV6|rcsb pdb:5AV8|rcsb pdb:5AV9|rcsb pdb:5AVB|rcsb pdb:5AVC|rcsb pdb:5AY8|rcsb pdb:5B0Y|rcsb pdb:5B0Z|rcsb pdb:5B24|rcsb pdb:5B2I|rcsb pdb:5B2J|rcsb pdb:5B31|rcsb pdb:5B32|rcsb pdb:5B33|rcsb pdb:5B40|rcsb pdb:5BNV|rcsb pdb:5BNX|rcsb pdb:5BO0|rcsb pdb:5C3I|rcsb pdb:5CPI|interpro:IPR019809|interpro:IPR035425|mint:P62805|rcsb pdb:1ZKK|rcsb pdb:2BQZ|rcsb pdb:2CV5|rcsb pdb:2IG0|rcsb pdb:2KWN|rcsb pdb:2KWO|rcsb pdb:2LVM|rcsb pdb:2QQS|rcsb pdb:2RJE|rcsb pdb:2RNY|interpro:IPR009072(Histone-fold)|rcsb pdb:2RS9|rcsb pdb:3A6N|rcsb pdb:3AFA|rcsb pdb:3AN2|rcsb pdb:3AV1|rcsb pdb:3AV2|rcsb pdb:5GT3|rcsb pdb:5GTC|rcsb pdb:5GXQ|rcsb pdb:5JA4|rcsb pdb:5JRG|rcsb pdb:5KDM|rcsb pdb:5TEG|rcsb pdb:5X7X|rcsb pdb:5XF3|rcsb pdb:5XF4|rcsb pdb:5XF5|rcsb pdb:5Y0C|rcsb pdb:5Y0D|rcsb pdb:5YE3|rcsb pdb:5YE4|rcsb pdb:5Z23|rcsb pdb:5Z30|rcsb pdb:5ZBX|rcsb pdb:5ZGC|rcsb pdb:5CPJ|rcsb pdb:6A5L|rcsb pdb:6A5O|rcsb pdb:5CPK|rcsb pdb:6A5P|rcsb pdb:5FA5|rcsb pdb:6A5R|rcsb pdb:6A5T|rcsb pdb:6A5U|rcsb pdb:6ACP|rcsb pdb:6BUZ|rcsb pdb:6C0W|rcsb pdb:6E0C|rcsb pdb:6E0P|rcsb pdb:6FML|rcsb pdb:6HKT|rcsb pdb:6HTS|rcsb pdb:6INQ|rcsb pdb:6IR9|rcsb pdb:6J4W|rcsb pdb:6J4X|rcsb pdb:6J4Y|rcsb pdb:6J4Z|rcsb pdb:6J50|rcsb pdb:6J51|rcsb pdb:6JOU|rcsb pdb:6JR0|rcsb pdb:6JR1|rcsb pdb:6K1I|rcsb pdb:6K1J|rcsb pdb:6K1K|rcsb pdb:6KE9|rcsb pdb:6KVD|rcsb pdb:6KXV|rcsb pdb:6L49|rcsb pdb:6L4A|rcsb pdb:6L9H|rcsb pdb:6L9Z|rcsb pdb:6LA2|rcsb pdb:6LA8|rcsb pdb:6LA9|rcsb pdb:6LAB|rcsb pdb:6LE9|rcsb pdb:6LER|rcsb pdb:6M3V|rcsb pdb:6M44|rcsb pdb:6M4D|rcsb pdb:5FFW|rcsb pdb:5FWE|rcsb pdb:5GSE|rcsb pdb:5GSU|rcsb pdb:5GT0|rcsb pdb:6M4G|rcsb pdb:6M4H|rcsb pdb:6MLC|rcsb pdb:6MUO|rcsb pdb:6MUP|rcsb pdb:6O1D|rcsb pdb:6R0C|rcsb pdb:6R8Y|rcsb pdb:6R8Z|rcsb pdb:6R90|rcsb pdb:6R91|refseq:NP_001029249.1|refseq:NP_003486.1|refseq:NP_003529.1|refseq:NP_003530.1|refseq:NP_003531.1|refseq:NP_003532.1|refseq:NP_003533.1|refseq:NP_003534.1|refseq:NP_003535.1|refseq:NP_003536.1|refseq:NP_003537.1|refseq:NP_003539.1|rcsb pdb:6R92|rcsb pdb:6R93|rcsb pdb:6R94|rcsb pdb:6RNY|rcsb pdb:6RXS|rcsb pdb:6SE0|rcsb pdb:6SE6|rcsb pdb:6SEE|rcsb pdb:6SEF|rcsb pdb:6SEG|rcsb pdb:6T79|rcsb pdb:6T7A|rcsb pdb:6T7B|rcsb pdb:6T7C|rcsb pdb:6T7D|rcsb pdb:6T90|rcsb pdb:6T93|rcsb pdb:6UPK|rcsb pdb:6UPL|rcsb pdb:6USJ|rcsb pdb:6V2K|rcsb pdb:6V92|rcsb pdb:6VO5|rcsb pdb:6X59|rcsb pdb:6X5A|rcsb pdb:6XJD|rcsb pdb:6Y5D|rcsb pdb:6YOV|rcsb pdb:7A08|rcsb pdb:7BWD|rcsb pdb:7BXT|rcsb pdb:7BY0|rcsb pdb:7C0M|rcsb pdb:7CCQ|rcsb pdb:7CCR|rcsb pdb:7CIZ|rcsb pdb:7CJ0|rcsb pdb:7D1Z|rcsb pdb:7D20|rcsb pdb:7DBP|rcsb pdb:7JO9|rcsb pdb:7JOA|rcsb pdb:7JZV|rcsb pdb:7K5X|rcsb pdb:7K5Y|rcsb pdb:7K60|rcsb pdb:7K61|rcsb pdb:7K63|rcsb pdb:7LMK|rcsb pdb:7LMM|rcsb pdb:7LYC|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214815|reactome:R-HSA-3214841|reactome:R-HSA-3214842|reactome:R-HSA-3214847|reactome:R-HSA-3214858|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-4551638|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-5693565|refseq:NP_068803.1|refseq:NP_778224.1|reactome:R-HSA-5693571|reactome:R-HSA-5693607|reactome:R-HSA-606279|reactome:R-HSA-69473|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9609690|reactome:R-HSA-9610379|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-977225 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LZSfhrpw0PcDREEoJ1UMkBvnUfA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6WCQ1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1022605|uniprotkb:Q3KQZ5|uniprotkb:Q5FB94|uniprotkb:Q6DHW2|uniprotkb:Q7Z5Y2|uniprotkb:Q8N390|uniprotkb:Q96G40|ensembl:ENSP00000342379 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mprip_human(display_long)|uniprotkb:MRIP(gene name synonym)|uniprotkb:Rho-interacting protein 3(gene name synonym)|uniprotkb:p116Rip(gene name synonym)|uniprotkb:MPRIP(gene name)|psi-mi:MPRIP(display_short)|uniprotkb:KIAA0864(gene name synonym)|uniprotkb:RHOIP3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000133030(gene)|ensembl:ENST00000341712(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0007015"(actin filament organization)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0045296"(cadherin binding)|go:"GO:0051015"(actin filament binding)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR039597|mint:Q6WCQ1|reactome:R-HSA-6802952|refseq:NP_055949.2|refseq:NP_958431.2 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:QoGbbg2ehuQogDM1Dlxzw6xj59s9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q16643 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351394|uniprotkb:Q9UFZ5|uniprotkb:B2RBG0|ensembl:ENSP00000308532|intact:EBI-4404710|uniprotkb:A8MV58 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dreb_human(display_long)|uniprotkb:DBN1(gene name)|psi-mi:DBN1(display_short)|uniprotkb:Developmentally-regulated brain protein(gene name synonym)|uniprotkb:D0S117E(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004386.2|refseq:NP_543157.1|refseq:XP_005265884.1|ensembl:ENSG00000113758(gene)|ensembl:ENST00000309007(transcript)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0003779"(actin binding)|go:"GO:0005522"(profilin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005921"(gap junction)|go:"GO:0007015"(actin filament organization)|go:"GO:0010643"(cell communication by chemical coupling)|go:"GO:0010644"(cell communication by electrical coupling)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0042641"(actomyosin)|go:"GO:0030425"(dendrite)|go:"GO:0045211"(postsynaptic membrane)|go:"GO:0045296"(cadherin binding)|go:"GO:0045773"(positive regulation of axon extension)|go:"GO:0048168"(regulation of neuronal synaptic plasticity)|go:"GO:0048812"(neuron projection morphogenesis)|go:"GO:0050773"(regulation of dendrite development)|go:"GO:0051015"(actin filament binding)|go:"GO:0051220"(cytoplasmic sequestering of protein)|go:"GO:0061003"(positive regulation of dendritic spine morphogenesis)|go:"GO:0061351"(neural precursor cell proliferation)|go:"GO:0098974"(postsynaptic actin cytoskeleton organization)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099524"(postsynaptic cytosol)|go:"GO:1902685"(positive regulation of receptor localization to synapse)|interpro:IPR002108(Actin-binding, cofilin/tropomyosin type)|interpro:IPR028438|interpro:IPR029006|mint:Q16643|go:"GO:0030426"(growth cone)|go:"GO:0030427"(site of polarized growth)|go:"GO:0030833"(regulation of actin filament polymerization)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031915"(positive regulation of synaptic plasticity)|rcsb pdb:5Y1Z|rcsb pdb:5ZZ9|reactome:R-HSA-9013405|reactome:R-HSA-9013407|reactome:R-HSA-9013418|reactome:R-HSA-9013422|go:"GO:0032507"(maintenance of protein location in cell)|refseq:XP_016864629.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0+VPJM5mTuG2jzmzGG3iLswmCUc9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11021 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354921|ensembl:ENSP00000324173|uniprotkb:Q2EF78|uniprotkb:Q9NPF1|uniprotkb:Q9UK02|uniprotkb:B0QZ61 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:bip_human(display_long)|uniprotkb:HSPA5(gene name)|psi-mi:HSPA5(display_short)|uniprotkb:GRP78(gene name synonym)|uniprotkb:Immunoglobulin heavy chain-binding protein(gene name synonym)|uniprotkb:78 kDa glucose-regulated protein(gene name synonym)|uniprotkb:Binding-immunoglobulin protein(gene name synonym)|uniprotkb:Heat shock protein 70 family protein 5(gene name synonym)|uniprotkb:Heat shock protein family A member 5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000044574(gene)|ensembl:ENST00000324460(transcript)|go:"GO:0001554"(luteolysis)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006983"(ER overload response)|refseq:NP_005338.1|go:"GO:0009986"(cell surface)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0016020"(membrane)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0021589"(cerebellum structural organization)|go:"GO:0021680"(cerebellar Purkinje cell layer development)|go:"GO:0021762"(substantia nigra development)|go:"GO:0030176"(integral component of endoplasmic reticulum membrane)|go:"GO:0030182"(neuron differentiation)|go:"GO:0030433"(ubiquitin-dependent ERAD pathway)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030496"(midbody)|go:"GO:0030512"(negative regulation of transforming growth factor beta receptor signaling pathway)|go:"GO:0030968"(endoplasmic reticulum unfolded protein response)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0031204"(posttranslational protein targeting to membrane, translocation)|go:"GO:0031333"(negative regulation of protein-containing complex assembly)|go:"GO:0031398"(positive regulation of protein ubiquitination)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034620"(cellular response to unfolded protein)|go:"GO:0034663"(endoplasmic reticulum chaperone complex)|go:"GO:0034975"(protein folding in endoplasmic reticulum)|go:"GO:0035437"(maintenance of protein localization in endoplasmic reticulum)|go:"GO:0035690"|go:"GO:0042026"(protein refolding)|go:"GO:0042149"(cellular response to glucose starvation)|go:"GO:0042220"(response to cocaine)|go:"GO:0042470"(melanosome)|go:"GO:0043022"(ribosome binding)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0045296"(cadherin binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051085"(chaperone cofactor-dependent protein refolding)|go:"GO:0051087"(chaperone binding)|go:"GO:0051402"(neuron apoptotic process)|go:"GO:0051787"(misfolded protein binding)|go:"GO:0060904"(regulation of protein folding in endoplasmic reticulum)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071236"(cellular response to antibiotic)|go:"GO:0071277"(cellular response to calcium ion)|go:"GO:0071287"(cellular response to manganese ion)|go:"GO:0071320"(cellular response to cAMP)|go:"GO:0071353"(cellular response to interleukin-4)|go:"GO:0071480"(cellular response to gamma radiation)|go:"GO:0097501"(stress response to metal ion)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1901998"(toxin transport)|go:"GO:1903891"(regulation of ATF6-mediated unfolded protein response)|go:"GO:1903894"(regulation of IRE1-mediated unfolded protein response)|go:"GO:1903895"(negative regulation of IRE1-mediated unfolded protein response)|go:"GO:1903897"(regulation of PERK-mediated unfolded protein response)|go:"GO:1904313"(response to methamphetamine hydrochloride)|go:"GO:1990090"(cellular response to nerve growth factor stimulus)|go:"GO:1990440"(positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress)|interpro:IPR013126(Heat shock protein 70)|interpro:IPR018181|interpro:IPR029047|interpro:IPR029048|interpro:IPR042050|interpro:IPR043129|mint:P11021|rcsb pdb:3IUC|rcsb pdb:3LDL|rcsb pdb:3LDN|rcsb pdb:3LDO|rcsb pdb:3LDP|rcsb pdb:5E84|rcsb pdb:5E85|rcsb pdb:5E86|rcsb pdb:5EVZ|rcsb pdb:5EX5|rcsb pdb:5EXW|rcsb pdb:5EY4|rcsb pdb:5F0X|rcsb pdb:5F1X|rcsb pdb:5F2R|rcsb pdb:6ASY|rcsb pdb:6CZ1|rcsb pdb:6DFM|rcsb pdb:6DFO|rcsb pdb:6DO2|rcsb pdb:6DWS|rcsb pdb:6ZMD|reactome:R-HSA-114608|reactome:R-HSA-3371453|reactome:R-HSA-381033|reactome:R-HSA-381042|reactome:R-HSA-381070|reactome:R-HSA-381183|reactome:R-HSA-983170|dip:DIP-33189N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:O8nTjCciNhD3QsbZmbolQ1IIMn49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35580 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351758|intact:EBI-7850240|intact:MINT-8330016|uniprotkb:B2RWP9|uniprotkb:D3DTS1|uniprotkb:Q9BWG0|uniprotkb:Q12989|uniprotkb:Q16087|uniprotkb:Q149N3|ensembl:ENSP00000269243|uniprotkb:Q149N4|uniprotkb:Q6PK16|uniprotkb:F8VTL3|uniprotkb:Q4LE45 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myh10_human(display_long)|uniprotkb:MYH10(gene name)|psi-mi:MYH10(display_short)|uniprotkb:Myosin heavy chain 10(gene name synonym)|uniprotkb:Myosin heavy chain, non-muscle IIb(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain IIb(gene name synonym)|uniprotkb:Cellular myosin heavy chain, type B(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain B(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001243024.1|refseq:NP_001242941.1|refseq:NP_005955.3|ensembl:ENSG00000133026(gene)|ensembl:ENST00000269243(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0000281"(mitotic cytokinesis)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0005938"(cell cortex)|go:"GO:0007155"(cell adhesion)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0016459"(myosin complex)|go:"GO:0016460"(myosin II complex)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0030027"(lamellipodium)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030496"(midbody)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0032154"(cleavage furrow)|go:"GO:0035613"(RNA stem-loop binding)|go:"GO:0042641"(actomyosin)|go:"GO:0043531"(ADP binding)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0050714"(positive regulation of protein secretion)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097513"(myosin II filament)|go:"GO:0098885"(modification of postsynaptic actin cytoskeleton)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002928(Myosin tail)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR008989(Myosin S1 fragment, N-terminal)|interpro:IPR027417|interpro:IPR036961|mint:P35580|rcsb pdb:4PD3|reactome:R-HSA-3928663|reactome:R-HSA-416572|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|refseq:XP_016880169.1|refseq:XP_016880170.1|refseq:XP_016880171.1|dip:DIP-31110N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iSHfJZbrWg1L+vSpu1n7RmTTNN49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P0CG39 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6151401|ensembl:ENSP00000387176 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:potej_human(display_long)|uniprotkb:POTEJ(gene name)|psi-mi:POTEJ(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001264012.1|ensembl:ENSG00000222038(gene)|ensembl:ENST00000409602(transcript)|go:"GO:0001895"(retina homeostasis)|go:"GO:0005615"(extracellular space)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002110(Ankyrin)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020683|interpro:IPR020902|interpro:IPR036770|interpro:IPR039497|interpro:IPR043129 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:FjaGG32SBA1jpjo0RFJpJ0gAyM89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P36578 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-348313|ensembl:ENSP00000311430|uniprotkb:P39029|uniprotkb:Q4VBR0|uniprotkb:Q969Z9|uniprotkb:A8K502 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl4_human(display_long)|uniprotkb:RPL4(gene name)|psi-mi:RPL4(display_short)|uniprotkb:RPL1(gene name synonym)|uniprotkb:60S ribosomal protein L1(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000174444(gene)|ensembl:ENST00000307961(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR002136(Ribosomal protein L4/L1e)|interpro:IPR013000(Ribosomal protein L4/L1e, eukaryotic/archaeal, conserved site)|interpro:IPR025755|mint:P36578|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A8L|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|interpro:IPR023574|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6OM0|refseq:NP_000959.2|dip:DIP-27559N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:34il/jyrW0Dqj0eA8GBFgUk05XU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15208 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-458376|ensembl:ENSP00000229812|uniprotkb:Q503A1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:stk38_human(display_long)|uniprotkb:NDR1(gene name synonym)|uniprotkb:STK38(gene name)|psi-mi:STK38(display_short)|uniprotkb:NDR1 protein kinase(gene name synonym)|uniprotkb:Nuclear Dbf2-related kinase 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000112079(gene)|ensembl:ENST00000229812(transcript)|go:"GO:0000287"(magnesium ion binding)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006464"(cellular protein modification process)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0018105"(peptidyl-serine phosphorylation)|go:"GO:0031435"(mitogen-activated protein kinase kinase kinase binding)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045296"(cadherin binding)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|interpro:IPR000719(Protein kinase, core)|interpro:IPR000961(Protein kinase, C-terminal)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR017892|mint:Q15208|rcsb pdb:1PSB|rcsb pdb:6BXI|reactome:R-HSA-9013418|reactome:R-HSA-9013422|refseq:NP_009202.1|refseq:XP_006715051.1|refseq:XP_006715052.1|refseq:NP_001292031.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YHzdDrPEH6YdhOXtcnLWArqftck9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O95425 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-487145|uniprotkb:O60611|uniprotkb:O60612|uniprotkb:Q5VZK5|uniprotkb:Q5VZK6|uniprotkb:Q9H1R7|uniprotkb:D3DRW9|ensembl:ENSP00000348128|uniprotkb:M1J557 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:svil_human(display_long)|uniprotkb:Archvillin(gene name synonym)|uniprotkb:p205/p250(gene name synonym)|uniprotkb:SVIL(gene name)|psi-mi:SVIL(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0007519"(skeletal muscle tissue development)|refseq:NP_003165.2|refseq:NP_068506.2|ensembl:ENSG00000197321(gene)|ensembl:ENST00000355867(transcript)|go:"GO:0002102"(podosome)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|interpro:IPR007123(Gelsolin region)|interpro:IPR015628(Supervillin)|interpro:IPR029006|interpro:IPR036886|mint:O95425|rcsb pdb:2K6M|rcsb pdb:2K6N|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030496"(midbody)|go:"GO:0032154"(cleavage furrow)|go:"GO:0032467"(positive regulation of cytokinesis)|go:"GO:0036449"(microtubule minus-end)|go:"GO:0042995"(cell projection)|go:"GO:0043034"(costamere)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|interpro:IPR003128(Villin headpiece)|interpro:IPR007122(Gelsolin) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5FaBAFdOX+nPJzTwEdBt8e5Keng9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P12814 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351710|uniprotkb:Q9BTN1|uniprotkb:Q1HE25|uniprotkb:B7TY16|intact:EBI-3866221|uniprotkb:B3V8S3|uniprotkb:B4DHH3|ensembl:ENSP00000193403 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actn1_human(display_long)|uniprotkb:ACTN1(gene name)|psi-mi:ACTN1(display_short)|uniprotkb:Alpha-actinin cytoskeletal isoform(gene name synonym)|uniprotkb:Non-muscle alpha-actinin-1(gene name synonym)|uniprotkb:F-actin cross-linking protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001093.1|refseq:NP_001123477.1|refseq:NP_001123476.1|dip:DIP-33184N|ensembl:ENSG00000072110(gene)|ensembl:ENST00000193403(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0001726"(ruffle)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005916"(fascia adherens)|go:"GO:0005925"(focal adhesion)|go:"GO:0007015"(actin filament organization)|go:"GO:0017166"(vinculin binding)|go:"GO:0030018"(Z disc)|go:"GO:0030220"(platelet formation)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0031093"(platelet alpha granule lumen)|go:"GO:0031143"(pseudopodium)|go:"GO:0036344"(platelet morphogenesis)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0042995"(cell projection)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0051015"(actin filament binding)|go:"GO:0051017"(actin filament bundle assembly)|go:"GO:0051271"(negative regulation of cellular component movement)|go:"GO:0051639"(actin filament network formation)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099186"(structural constituent of postsynapse)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR014837(EF-hand, Ca insensitive)|interpro:IPR018159|interpro:IPR018247|interpro:IPR036872|mint:P12814|rcsb pdb:2EYI|rcsb pdb:2EYN|rcsb pdb:2N8Y|rcsb pdb:2N8Z|reactome:R-HSA-114608|reactome:R-HSA-3000170|reactome:R-HSA-373753|reactome:R-HSA-446388|reactome:R-HSA-9013405|reactome:R-HSA-9013418|reactome:R-HSA-9035034 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:guTURyt26f1ort4NAlYyabNc+WE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PDF6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25617580|ensembl:ENSP00000376130 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pdf6_human(display_long)|uniprotkb:MYO1B(gene name)|psi-mi:MYO1B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0016459"(myosin complex)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR010926(Myosin tail 2)|interpro:IPR027417|interpro:IPR036072|interpro:IPR036961|ensembl:ENSG00000128641(gene)|ensembl:ENST00000392316(transcript)|refseq:NP_001317166.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:9JCFYwbtYfIBwmEYVxkysQQZJ1E9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P56545 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-741533|uniprotkb:O43449|uniprotkb:Q5SQP7|uniprotkb:Q69YI3|uniprotkb:Q86SV0|uniprotkb:Q9H2T8|uniprotkb:A8K2X5|ensembl:ENSP00000338615|ensembl:ENSP00000410474|ensembl:ENSP00000434630|ensembl:ENSP00000436285|uniprotkb:D3DRF5|uniprotkb:Q8IY44|intact:EBI-11742664 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ctbp2_human(display_long)|uniprotkb:CTBP2(gene name)|psi-mi:CTBP2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001077383.1|refseq:NP_001320.1|refseq:NP_073713.2|refseq:NP_001307943.1|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098882"(structural constituent of presynaptic active zone)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0099523"(presynaptic cytosol)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:P56545|rcsb pdb:2OME|rcsb pdb:4LCJ|rcsb pdb:6WKW|reactome:R-HSA-4641265|reactome:R-HSA-5339700|reactome:R-HSA-9662360|go:"GO:0048386"(positive regulation of retinoic acid receptor signaling pathway)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0098684"(photoreceptor ribbon synapse)|ensembl:ENSG00000175029(gene)|ensembl:ENST00000337195(transcript)|ensembl:ENST00000411419(transcript)|ensembl:ENST00000494626(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|ensembl:ENST00000531469(transcript)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016081"(synaptic vesicle docking)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019901"(protein kinase binding)|go:"GO:0035563"(positive regulation of chromatin binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0042974"(retinoic acid receptor binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|refseq:XP_011537653.1|refseq:XP_011537655.1|refseq:XP_011537656.1|refseq:XP_011537657.1|refseq:NP_001307941.1|refseq:NP_001307942.1|refseq:XP_005269618.1|refseq:XP_005269621.1|refseq:XP_005269624.1|refseq:XP_005269625.1|refseq:XP_005269626.1|refseq:XP_005269628.1|refseq:XP_005269629.1|refseq:NP_001277143.1|refseq:NP_001277144.1|refseq:XP_006717705.1|refseq:XP_016871245.1|refseq:XP_016871246.1|dip:DIP-42104N|refseq:XP_011537651.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6sKiqjMRW/ViEvTbQJoaUjgvZtc9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F8VQE1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043869|ensembl:ENSP00000450087 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f8vqe1_human(display_long)|uniprotkb:LIMA1(gene name)|psi-mi:LIMA1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000050405(gene)|ensembl:ENST00000552909(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030835"(negative regulation of actin filament depolymerization)|go:"GO:0046872"(metal ion binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0051017"(actin filament bundle assembly)|interpro:IPR001781(Zinc finger, LIM-type)|interpro:IPR028740 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/tX0u86VpKbqRRD9xVNx3yPmkzE9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BQI0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358576|uniprotkb:Q6ZR40|uniprotkb:Q8NAX7|uniprotkb:Q8WU47|uniprotkb:Q9H9G0|uniprotkb:B2RBC4|ensembl:ENSP00000247291 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:aif1l_human(display_long)|uniprotkb:UNQ672/PRO1306(orf name)|uniprotkb:AIF1L(gene name)|psi-mi:AIF1L(display_short)|uniprotkb:C9orf58(gene name synonym)|uniprotkb:IBA2(gene name synonym)|uniprotkb:Ionized calcium-binding adapter molecule 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001172024.1|refseq:NP_001172025.1|refseq:NP_113614.1|ensembl:ENSG00000126878(gene)|ensembl:ENST00000247291(transcript)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0032587"(ruffle membrane)|go:"GO:0032991"(protein-containing complex)|go:"GO:0051015"(actin filament binding)|go:"GO:0051017"(actin filament bundle assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097178"(ruffle assembly)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR028453|interpro:IPR042433|rcsb pdb:2JJZ|rcsb pdb:2VTG intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/FPBcx3gPhY4kmNrngZfmmN2D0A9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96SB3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351275|uniprotkb:Q8TCR9|intact:EBI-28984643|ensembl:ENSP00000478767|intact:EBI-4401886|uniprotkb:D3DTX6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:neb2_human(display_long)|uniprotkb:Neurabin-II(gene name synonym)|uniprotkb:Spinophilin(gene name synonym)|uniprotkb:Protein phosphatase 1 regulatory subunit 9B(gene name synonym)|uniprotkb:PPP1R9B(gene name)|psi-mi:PPP1R9B(display_short)|uniprotkb:PPP1R6(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000108819(gene)|ensembl:ENST00000612501(transcript)|go:"GO:0000164"(protein phosphatase type 1 complex)|go:"GO:0001560"(regulation of cell growth by extracellular stimulus)|go:"GO:0001932"(regulation of protein phosphorylation)|go:"GO:0001975"(response to amphetamine)|go:"GO:0003006"(developmental process involved in reproduction)|go:"GO:0004672"(protein kinase activity)|go:"GO:0004864"(protein phosphatase inhibitor activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0007015"(actin filament organization)|go:"GO:0007096"(regulation of exit from mitosis)|go:"GO:0007568"(aging)|go:"GO:0007612"(learning)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008157"(protein phosphatase 1 binding)|go:"GO:0008380"(RNA splicing)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016358"(dendrite development)|go:"GO:0016477"(cell migration)|go:"GO:0019722"(calcium-mediated signaling)|go:"GO:0019900"(kinase binding)|go:"GO:0021766"(hippocampus development)|go:"GO:0021987"(cerebral cortex development)|go:"GO:0030027"(lamellipodium)|go:"GO:0030042"(actin filament depolymerization)|go:"GO:0030175"(filopodium)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0030425"(dendrite)|go:"GO:0030426"(growth cone)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031175"(neuron projection development)|go:"GO:0031749"(D2 dopamine receptor binding)|go:"GO:0032515"(negative regulation of phosphoprotein phosphatase activity)|go:"GO:0032587"(ruffle membrane)|go:"GO:0034695"(response to prostaglandin E)|go:"GO:0035094"(response to nicotine)|go:"GO:0035690"|go:"GO:0035902"(response to immobilization stress)|go:"GO:0042127"(regulation of cell population proliferation)|go:"GO:0043025"(neuronal cell body)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0044326"(dendritic spine neck)|go:"GO:0044327"(dendritic spine head)|go:"GO:0046847"(filopodium assembly)|go:"GO:0048545"(response to steroid hormone)|go:"GO:0050804"(modulation of chemical synaptic transmission)|go:"GO:0051015"(actin filament binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0060179"(male mating behavior)|go:"GO:0061458"(reproductive system development)|go:"GO:0071315"(cellular response to morphine)|go:"GO:0071364"(cellular response to epidermal growth factor stimulus)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:0097338"(response to clozapine)|go:"GO:1901653"(cellular response to peptide)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|go:"GO:1903119"(protein localization to actin cytoskeleton)|go:"GO:1904372"(positive regulation of protein localization to actin cortical patch)|go:"GO:1904373"(response to kainic acid)|go:"GO:1904386"(response to L-phenylalanine derivative)|go:"GO:1990778"(protein localization to cell periphery)|go:"GO:1990780"(cytoplasmic side of dendritic spine plasma membrane)|go:"GO:2000474"(regulation of opioid receptor signaling pathway)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR029921|interpro:IPR036034|interpro:IPR040645|interpro:IPR043446|mint:Q96SB3|ensembl:ENSP00000478767|refseq:NP_115984.3 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:X6fQLpaYhXCqzRlQNEoX67P/HbU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q01082 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351561|intact:EBI-1642531|uniprotkb:O60837|uniprotkb:Q16057|uniprotkb:Q53R99|uniprotkb:Q59ER3|uniprotkb:Q8IX99|uniprotkb:B2RP63|ensembl:ENSP00000349259 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sptb2_human(display_long)|uniprotkb:SPTBN1(gene name)|psi-mi:SPTBN1(display_short)|uniprotkb:SPTB2(gene name synonym)|uniprotkb:Spectrin, non-erythroid beta chain 1(gene name synonym)|uniprotkb:Beta-II spectrin(gene name synonym)|uniprotkb:Fodrin beta chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003119.2|refseq:NP_842565.2|ensembl:ENSG00000115306(gene)|ensembl:ENST00000356805(transcript)|go:"GO:0000281"(mitotic cytokinesis)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005543"(phospholipid binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007009"(plasma membrane organization)|go:"GO:0007182"(common-partner SMAD protein phosphorylation)|go:"GO:0008091"(spectrin)|go:"GO:0014069"(postsynaptic density)|go:"GO:0014731"(spectrin-associated cytoskeleton)|go:"GO:0030506"(ankyrin binding)|go:"GO:0030673"(axolemma)|go:"GO:0031430"(M band)|go:"GO:0032437"(cuticular plate)|go:"GO:0032743"(positive regulation of interleukin-2 production)|go:"GO:0043001"(Golgi to plasma membrane protein transport)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045296"(cadherin binding)|go:"GO:0051020"(GTPase binding)|go:"GO:0051693"(actin filament capping)|go:"GO:0060390"(regulation of SMAD protein signal transduction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071709"(membrane assembly)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1903076"(regulation of protein localization to plasma membrane)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001605(Spectrin/pleckstrin-like)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR002017(Spectrin repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR016343(Spectrin, beta subunit)|interpro:IPR018159|interpro:IPR036872|interpro:IPR041681|mint:Q01082|rcsb pdb:1AA2|rcsb pdb:1BKR|rcsb pdb:3EDV|reactome:R-HSA-375165|reactome:R-HSA-445095|reactome:R-HSA-5673001|reactome:R-HSA-6807878|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9703465|reactome:R-HSA-373753|refseq:XP_005264574.1|refseq:XP_006712150.1|refseq:XP_016860268.1|refseq:XP_016860269.1|refseq:XP_016860270.1|dip:DIP-33182N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rQJxsoEirg87umLjsEwHcQ0/blQ9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06748 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-78579|uniprotkb:P08693|uniprotkb:Q12826|uniprotkb:Q13440|uniprotkb:Q13441|uniprotkb:Q14115|uniprotkb:Q5EU94|uniprotkb:Q5EU95|uniprotkb:Q5EU96|uniprotkb:Q5EU97|uniprotkb:Q5EU98|uniprotkb:Q5EU99|uniprotkb:Q6V962|uniprotkb:Q8WTW5|uniprotkb:Q96AT6|uniprotkb:Q96DC4|uniprotkb:Q96EA5|uniprotkb:A8K3N7|uniprotkb:B5BU00|uniprotkb:Q9UDJ7|uniprotkb:D3DQL6|uniprotkb:Q9BYG9|ensembl:ENSP00000296930|ensembl:ENSP00000428755 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:npm_human(display_long)|uniprotkb:NPM1(gene name)|psi-mi:NPM1(display_short)|uniprotkb:NPM(gene name synonym)|uniprotkb:Nucleolar phosphoprotein B23(gene name synonym)|uniprotkb:Numatrin(gene name synonym)|uniprotkb:Nucleolar protein NO38(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002511.1|refseq:NP_954654.1|refseq:NP_001032827.1|dip:DIP-30932N|ensembl:ENSG00000181163(gene)|ensembl:ENST00000296930(transcript)|ensembl:ENST00000517671(transcript)|go:"GO:0000055"(ribosomal large subunit export from nucleus)|go:"GO:0000056"(ribosomal small subunit export from nucleus)|go:"GO:0001046"(core promoter sequence-specific DNA binding)|go:"GO:0001558"(regulation of cell growth)|go:"GO:0001652"(granular component)|go:"GO:0003682"(chromatin binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0004860"(protein kinase inhibitor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006281"(DNA repair)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006407"(rRNA export from nucleus)|go:"GO:0006884"(cell volume homeostasis)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006913"(nucleocytoplasmic transport)|go:"GO:0007098"(centrosome cycle)|go:"GO:0007165"(signal transduction)|go:"GO:0007569"(cell aging)|go:"GO:0008104"(protein localization)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0010824"(regulation of centrosome duplication)|go:"GO:0010825"(positive regulation of centrosome duplication)|go:"GO:0010826"(negative regulation of centrosome duplication)|go:"GO:0015934"(large ribosomal subunit)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0019843"(rRNA binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030957"(Tat protein binding)|go:"GO:0031398"(positive regulation of protein ubiquitination)|go:"GO:0031616"(spindle pole centrosome)|go:"GO:0032071"(regulation of endodeoxyribonuclease activity)|go:"GO:0032991"(protein-containing complex)|go:"GO:0032993"(protein-DNA complex)|go:"GO:0034644"(cellular response to UV)|go:"GO:0042255"(ribosome assembly)|go:"GO:0042273"(ribosomal large subunit biogenesis)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042393"(histone binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043023"(ribosomal large subunit binding)|go:"GO:0043024"(ribosomal small subunit binding)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043516"(regulation of DNA damage response, signal transduction by p53 class mediator)|go:"GO:0044387"(negative regulation of protein kinase activity by regulation of protein phosphorylation)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046599"(regulation of centriole replication)|go:"GO:0047485"(protein N-terminus binding)|go:"GO:0048025"(negative regulation of mRNA splicing, via spliceosome)|go:"GO:0050821"(protein stabilization)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0060699"(regulation of endoribonuclease activity)|go:"GO:0060735"(regulation of eIF2 alpha phosphorylation by dsRNA)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1902629"(regulation of mRNA stability involved in cellular response to UV)|go:"GO:1902751"(positive regulation of cell cycle G2/M phase transition)|go:"GO:1904751"(positive regulation of protein localization to nucleolus)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR004301(Nucleoplasmin)|interpro:IPR024057|interpro:IPR032569|interpro:IPR036824|mint:P06748|rcsb pdb:2LLH|rcsb pdb:2P1B|rcsb pdb:2VXD|rcsb pdb:5EHD|reactome:R-HSA-180746|reactome:R-HSA-3899300|reactome:R-HSA-606279|reactome:R-HSA-6804115|reactome:R-HSA-8869496 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HJ7Mg+XsIhuJiScPKiI0dIa6KpM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13363 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14744 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351098|uniprotkb:Q6IBR1|uniprotkb:A8MZ91|uniprotkb:Q9UKH1|uniprotkb:B5BU10|uniprotkb:D3DS33|ensembl:ENSP00000319169|uniprotkb:A8MTP3|uniprotkb:B4DX49|uniprotkb:B4DY30|uniprotkb:E2QRE7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:anm5_human(display_long)|uniprotkb:PRMT5(gene name)|psi-mi:PRMT5(display_short)|uniprotkb:IBP72(gene name synonym)|uniprotkb:JBP1(gene name synonym)|uniprotkb:HRMT1L5(gene name synonym)|uniprotkb:Shk1 kinase-binding protein 1 homolog(gene name synonym)|uniprotkb:Jak-binding protein 1(gene name synonym)|uniprotkb:72 kDa ICln-binding protein(gene name synonym)|uniprotkb:SKB1(gene name synonym)|uniprotkb:Histone-arginine N-methyltransferase PRMT5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001034708.1|refseq:NP_006100.2|refseq:NP_001269882.1|refseq:NP_001269884.1|refseq:NP_001269885.1|ensembl:ENSG00000100462(gene)|ensembl:ENST00000324366(transcript)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0000785"(chromatin)|go:"GO:0002039"(p53 binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006353"(DNA-templated transcription, termination)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0007088"(regulation of mitotic nuclear division)|go:"GO:0008168"(methyltransferase activity)|go:"GO:0008327"(methyl-CpG binding)|go:"GO:0008469"(histone-arginine N-methyltransferase activity)|go:"GO:0016274"(protein-arginine N-methyltransferase activity)|go:"GO:0018216"(peptidyl-arginine methylation)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0034709"(methylosome)|go:"GO:0034969"(histone arginine methylation)|go:"GO:0035097"(histone methyltransferase complex)|go:"GO:0035243"(protein-arginine omega-N symmetric methyltransferase activity)|go:"GO:0035246"(peptidyl-arginine N-methylation)|go:"GO:0042118"(endothelial cell activation)|go:"GO:0042802"(identical protein binding)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0043985"(histone H4-R3 methylation)|go:"GO:0044020"("histone methyltransferase activity (H4-R3 specific)")|go:"GO:0044030"(regulation of DNA methylation)|go:"GO:0045596"(negative regulation of cell differentiation)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|go:"GO:0070372"(regulation of ERK1 and ERK2 cascade)|go:"GO:0070888"(E-box binding)|go:"GO:0090161"(Golgi ribbon formation)|go:"GO:0097421"(liver regeneration)|go:"GO:1901796"(regulation of signal transduction by p53 class mediator)|interpro:IPR007857(Skb1 methyltransferase)|interpro:IPR025799|interpro:IPR029063|interpro:IPR035075|interpro:IPR035247|interpro:IPR035248|mint:O14744|rcsb pdb:4GQB|rcsb pdb:4X60|rcsb pdb:4X61|rcsb pdb:4X63|rcsb pdb:5C9Z|rcsb pdb:5EMJ|rcsb pdb:5EMK|rcsb pdb:5EML|rcsb pdb:5EMM|rcsb pdb:5FA5|rcsb pdb:6CKC|rcsb pdb:6K1S|rcsb pdb:6RLL|rcsb pdb:6RLQ|rcsb pdb:6UGH|rcsb pdb:6UXX|rcsb pdb:6UXY|rcsb pdb:6V0N|rcsb pdb:6V0O|rcsb pdb:6V0P|rcsb pdb:7KIB|rcsb pdb:7KIC|rcsb pdb:7KID|rcsb pdb:7L1G|rcsb pdb:7M05|reactome:R-HSA-191859|reactome:R-HSA-3214858|reactome:R-HSA-6804760|go:"GO:1904992"(positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway)|dip:DIP-33172N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:EwePjCDiU/fiuKOO+wnoYQ8I57I9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13813 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351450|uniprotkb:Q13186|uniprotkb:Q15324|uniprotkb:Q16606|uniprotkb:Q59EF1|uniprotkb:Q5VXV5|uniprotkb:Q5VXV6|uniprotkb:Q7Z6M5|uniprotkb:Q9P0V0|intact:EBI-4404719|intact:EBI-28985930|ensembl:ENSP00000361816 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sptn1_human(display_long)|uniprotkb:SPTAN1(gene name)|psi-mi:SPTAN1(display_short)|uniprotkb:SPTA2(gene name synonym)|uniprotkb:Alpha-II spectrin(gene name synonym)|uniprotkb:Fodrin alpha chain(gene name synonym)|uniprotkb:NEAS(gene name synonym)|uniprotkb:Spectrin, non-erythroid alpha subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001123910.1|refseq:NP_001182461.1|refseq:NP_003118.2|ensembl:ENSG00000197694(gene)|ensembl:ENST00000372731(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005829"(cytosol)|go:"GO:0008091"(spectrin)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0035580"(specific granule lumen)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045296"(cadherin binding)|go:"GO:0051693"(actin filament capping)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1904724"(tertiary granule lumen)|interpro:IPR001452(Src homology-3)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR014837(EF-hand, Ca insensitive)|interpro:IPR018159|interpro:IPR018247|interpro:IPR035825|interpro:IPR036028|mint:Q13813|rcsb pdb:2FOT|rcsb pdb:3F31|rcsb pdb:3FB2|rcsb pdb:5FW9|rcsb pdb:5FWB|rcsb pdb:5FWC|rcsb pdb:6ZEH|reactome:R-HSA-264870|reactome:R-HSA-373753|reactome:R-HSA-375165|reactome:R-HSA-445095|reactome:R-HSA-5673001|reactome:R-HSA-6798695|reactome:R-HSA-6807878|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9662360|reactome:R-HSA-9662361|ensembl:ENST00000358161|ensembl:ENSP00000350882|ensembl:ENSP00000361816|ensembl:ENST00000372739|ensembl:ENSP00000361824|dip:DIP-33141N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3d5XlsH+PSg32qNR/ZiooAJ/wH89606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q562R1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1773495|uniprotkb:Q562R2|uniprotkb:Q562S9|uniprotkb:Q562X8|uniprotkb:B2RPJ1|ensembl:ENSP00000416706 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actbl_human(display_long)|uniprotkb:ACTBL2(gene name)|psi-mi:ACTBL2(display_short)|uniprotkb:Kappa-actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001017992.1|ensembl:ENSG00000169067(gene)|ensembl:ENST00000423391(transcript)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005884"(actin filament)|go:"GO:0007409"(axonogenesis)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030424"(axon)|go:"GO:0035267"(NuA4 histone acetyltransferase complex)|go:"GO:0045202"(synapse)|go:"GO:0048870"(cell motility)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098973"(structural constituent of postsynaptic actin cytoskeleton)|go:"GO:0098978"(glutamatergic synapse)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:Q562R1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GTzKP5YRJGH8ocAJW0WEsdQFEdc9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F5H6E2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043849|ensembl:ENSP00000437685 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f5h6e2_human(display_long)|uniprotkb:MYO1C(gene name)|psi-mi:MYO1C(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000197879(gene)|ensembl:ENST00000545534(transcript)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0016459"(myosin complex)|go:"GO:0016604"(nuclear body)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR010926(Myosin tail 2)|interpro:IPR027417|interpro:IPR036072|interpro:IPR036961 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HtLoTN1CwLk8DE71S9WSclJnYy09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5M775 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350473|uniprotkb:Q5IBP1|uniprotkb:Q5IBP2|uniprotkb:Q5IBP3|uniprotkb:Q5IBP4|uniprotkb:Q5M772|uniprotkb:Q5M773|uniprotkb:Q5M774|uniprotkb:Q86XT8|uniprotkb:Q8N4U4|uniprotkb:Q8WU84|uniprotkb:Q9HCQ3|uniprotkb:B4DHH0|ensembl:ENSP00000261503|ensembl:ENSP00000378898|ensembl:ENSP00000502924|ensembl:ENSP00000503971|ensembl:ENSP00000504211|uniprotkb:B7WNS8|intact:EBI-2556892 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cytsb_human(display_long)|uniprotkb:Nuclear structure protein 5(gene name synonym)|uniprotkb:Sperm antigen HCMOGT-1(gene name synonym)|uniprotkb:SPECC1(gene name)|psi-mi:SPECC1(display_short)|uniprotkb:CYTSB(gene name synonym)|uniprotkb:Sperm antigen with calponin homology and coiled-coil domains 1(gene name synonym)|uniprotkb:NSP5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001028725.1|refseq:NP_001028726.1|refseq:NP_001028727.1|refseq:NP_001230367.1|refseq:NP_001230368.1|refseq:NP_690868.3|ensembl:ENSG00000128487(gene)|ensembl:ENST00000261503(transcript)|ensembl:ENST00000395527(transcript)|ensembl:ENST00000677914(transcript)|ensembl:ENST00000679058(transcript)|ensembl:ENST00000679255(transcript)|go:"GO:0001650"(fibrillar center)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0016020"(membrane)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0031941"(filamentous actin)|go:"GO:0043231"(intracellular membrane-bounded organelle)|interpro:IPR036872|mint:Q5M775|interpro:IPR001715(Calponin-like actin-binding)|refseq:XP_016880814.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iF+19RpfJDyn5whTFnPmDxxECz09606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46940 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-297509|ensembl:ENSP00000268182|uniprotkb:A7MBM3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:iqga1_human(display_long)|uniprotkb:IQGAP1(gene name)|psi-mi:IQGAP1(display_short)|uniprotkb:KIAA0051(gene name synonym)|uniprotkb:p195(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000140575(gene)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005547"(phosphatidylinositol-3,4,5-trisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005874"(microtubule)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|ensembl:ENST00000268182(transcript)|go:"GO:0001726"(ruffle)|go:"GO:0005925"(focal adhesion)|go:"GO:0007165"(signal transduction)|go:"GO:0007173"(epidermal growth factor receptor signaling pathway)|go:"GO:0005078"(MAP-kinase scaffold activity)|go:"GO:0005095"(GTPase inhibitor activity)|go:"GO:0007346"(regulation of mitotic cell cycle)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0016477"(cell migration)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0030424"(axon)|go:"GO:0030426"(growth cone)|go:"GO:0030496"(midbody)|go:"GO:0031234"(extrinsic component of cytoplasmic side of plasma membrane)|go:"GO:0031267"(small GTPase binding)|go:"GO:0032956"(regulation of actin cytoskeleton organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0036057"(slit diaphragm)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0043005"(neuron projection)|go:"GO:0043087"(regulation of GTPase activity)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043410"(positive regulation of MAPK cascade)|go:"GO:0043539"(protein serine/threonine kinase activator activity)|go:"GO:0044548"(S100 protein binding)|go:"GO:0045121"(membrane raft)|go:"GO:0045296"(cadherin binding)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0051015"(actin filament binding)|go:"GO:0051019"(mitogen-activated protein kinase binding)|go:"GO:0051894"(positive regulation of focal adhesion assembly)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071277"(cellular response to calcium ion)|go:"GO:0071364"(cellular response to epidermal growth factor stimulus)|go:"GO:0072015"(glomerular visceral epithelial cell development)|go:"GO:1900006"(positive regulation of dendrite development)|go:"GO:1900086"(positive regulation of peptidyl-tyrosine autophosphorylation)|go:"GO:1903829"(positive regulation of protein localization)|go:"GO:1904754"(positive regulation of vascular associated smooth muscle cell migration)|go:"GO:1990138"(neuron projection extension)|go:"GO:1990776"(response to angiotensin)|interpro:IPR000048(IQ calmodulin-binding region)|go:"GO:0030667"(secretory granule membrane)|interpro:IPR000593(RasGAP protein, C-terminal)|interpro:IPR001202(WW/Rsp5/WWP)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR001936(Ras GTPase-activating protein)|interpro:IPR008936(Rho GTPase activation protein)|interpro:IPR023152|interpro:IPR027417|interpro:IPR036872|mint:P46940|rcsb pdb:1X0H|rcsb pdb:2RR8|rcsb pdb:3FAY|rcsb pdb:3I6X|rcsb pdb:5L0O|reactome:R-HSA-373753|reactome:R-HSA-381676|reactome:R-HSA-5626467|reactome:R-HSA-5674135|reactome:R-HSA-6798695|reactome:R-HSA-6802946|reactome:R-HSA-6802948|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-8980692|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013406|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9649948|reactome:R-HSA-9656223|refseq:NP_003861.1|dip:DIP-32597N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nXO2Z6Qn8EQGfziT8dnWz1pbK/w9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P07437 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350864|uniprotkb:P05218|uniprotkb:Q8WUC1|uniprotkb:Q9CY33|ensembl:ENSP00000339001|ensembl:ENSP00000373058|ensembl:ENSP00000399155|ensembl:ENSP00000400663|ensembl:ENSP00000401317|ensembl:ENSP00000406811|ensembl:ENSP00000410071|ensembl:ENSP00000410829 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb5_human(display_long)|uniprotkb:TUBB(gene name)|psi-mi:TUBB(display_short)|uniprotkb:Tubulin beta-5 chain(gene name synonym)|uniprotkb:TUBB5(gene name synonym)|uniprotkb:OK/SW-cl.56(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_821133.1|refseq:NP_001280141.1|refseq:NP_001280142.1|refseq:NP_001280143.1|refseq:NP_001280144.1|refseq:NP_001280145.1|ensembl:ENSG00000183311(gene)|ensembl:ENSG00000196230(gene)|ensembl:ENSG00000224156(gene)|ensembl:ENSG00000227739(gene)|ensembl:ENSG00000229684(gene)|ensembl:ENSG00000232421(gene)|ensembl:ENSG00000232575(gene)|ensembl:ENSG00000235067(gene)|ensembl:ENST00000327892(transcript)|ensembl:ENST00000383564(transcript)|ensembl:ENST00000419792(transcript)|ensembl:ENST00000421473(transcript)|ensembl:ENST00000422650(transcript)|ensembl:ENST00000422674(transcript)|ensembl:ENST00000432462(transcript)|ensembl:ENST00000436628(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005641"(nuclear envelope lumen)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005874"(microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0009987"(cellular process)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030705"(cytoskeleton-dependent intracellular transport)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032794"(GTPase activating protein binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042267"(natural killer cell mediated cytotoxicity)|go:"GO:0042288"(MHC class I protein binding)|go:"GO:0044297"(cell body)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045121"(membrane raft)|go:"GO:0051225"(spindle assembly)|go:"GO:0051301"(cell division)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P07437|rcsb pdb:3QNZ|rcsb pdb:3QO0|rcsb pdb:5N5N|rcsb pdb:6I2I|rcsb pdb:6QUS|rcsb pdb:6QUY|rcsb pdb:6QVE|rcsb pdb:6QVJ|reactome:R-HSA-2565942|go:"GO:0050807"(regulation of synapse organization)|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-5620912|reactome:R-HSA-6798695|reactome:R-HSA-8854518|reactome:R-HSA-9679191|reactome:R-HSA-380320|dip:DIP-32772N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B6pmb1dvCroZXGd/1Zazi+s72GA9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62136 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357253|uniprotkb:P08129|uniprotkb:P20653|uniprotkb:P22802|uniprotkb:B2R908|intact:EBI-2623163|uniprotkb:Q07161|intact:EBI-2556927|uniprotkb:A6NNR3|ensembl:ENSP00000365936 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pp1a_human(display_long)|uniprotkb:PPP1CA(gene name)|psi-mi:PPP1CA(display_short)|uniprotkb:PPP1A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001008709.1|refseq:NP_002699.1|refseq:NP_996756.1|dip:DIP-221N|dip:DIP-38195N|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0035970"(peptidyl-threonine dephosphorylation)|go:"GO:0036496"(regulation of translational initiation by eIF2 alpha dephosphorylation)|go:"GO:0042587"(glycogen granule)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0043153"(entrainment of circadian clock by photoperiod)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0046872"(metal ion binding)|go:"GO:0048754"(branching morphogenesis of an epithelial tube)|go:"GO:0051301"(cell division)|go:"GO:0060828"(regulation of canonical Wnt signaling pathway)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070262"(peptidyl-serine dephosphorylation)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0106306"|go:"GO:0106307"|go:"GO:1904886"(beta-catenin destruction complex disassembly)|go:"GO:2001241"(positive regulation of extrinsic apoptotic signaling pathway in absence of ligand)|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR006186("Serine/threonine-specific protein phosphatase and bis(5-nucleosyl)-tetraphosphatase")|interpro:IPR029052|interpro:IPR031675|interpro:IPR037979|mint:P62136|rcsb pdb:3E7A|rcsb pdb:3E7B|rcsb pdb:3EGG|rcsb pdb:3EGH|rcsb pdb:3HVQ|rcsb pdb:3N5U|rcsb pdb:3V4Y|rcsb pdb:4G9J|rcsb pdb:4MOV|rcsb pdb:4MOY|rcsb pdb:4MP0|rcsb pdb:4XPN|rcsb pdb:5IOH|rcsb pdb:6ALZ|rcsb pdb:6CZO|rcsb pdb:6DCX|rcsb pdb:6DNO|rcsb pdb:6G0I|rcsb pdb:6G0J|rcsb pdb:6GHM|rcsb pdb:6OBN|rcsb pdb:6OBP|rcsb pdb:6OBQ|rcsb pdb:6OBR|rcsb pdb:6OBS|rcsb pdb:6OBU|rcsb pdb:6ZEE|rcsb pdb:6ZEF|rcsb pdb:6ZEG|rcsb pdb:6ZEH|rcsb pdb:6ZEI|rcsb pdb:6ZEJ|rcsb pdb:6ZK6|reactome:R-HSA-163560|reactome:R-HSA-180024|reactome:R-HSA-2173788|reactome:R-HSA-400253|go:"GO:0098793"(presynapse)|ensembl:ENSG00000172531(gene)|ensembl:ENST00000376745(transcript)|go:"GO:0000164"(protein phosphatase type 1 complex)|go:"GO:0004721"(phosphoprotein phosphatase activity)|go:"GO:0004722"(protein serine/threonine phosphatase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005977"(glycogen metabolic process)|go:"GO:0005979"(regulation of glycogen biosynthetic process)|go:"GO:0005981"(regulation of glycogen catabolic process)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007049"(cell cycle)|go:"GO:0008157"(protein phosphatase 1 binding)|go:"GO:0010288"(response to lead ion)|go:"GO:0016311"(dephosphorylation)|go:"GO:0016791"(phosphatase activity)|go:"GO:0030324"(lung development) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IMypaKng+5AECbCd3N72pgzUlxQ9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75369 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352089|intact:EBI-1754974|uniprotkb:Q13706|uniprotkb:Q59EC2|uniprotkb:Q6MZJ1|uniprotkb:Q8WXS9|uniprotkb:Q8WXT0|uniprotkb:Q8WXT1|uniprotkb:Q8WXT2|uniprotkb:Q9NRB5|uniprotkb:B2ZZ84|uniprotkb:Q9NT26|uniprotkb:Q9UEV9|intact:EBI-1960054|uniprotkb:C9JKE6|uniprotkb:B2ZZ85|uniprotkb:C9JMC4|ensembl:ENSP00000295956|uniprotkb:B2ZZ83|uniprotkb:Q60FE7|uniprotkb:Q8WXT3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:flnb_human(display_long)|uniprotkb:FLNB(gene name)|psi-mi:FLNB(display_short)|uniprotkb:FLN1L(gene name synonym)|uniprotkb:FLN3(gene name synonym)|uniprotkb:TABP(gene name synonym)|uniprotkb:TAP(gene name synonym)|uniprotkb:Beta-filamin(gene name synonym)|uniprotkb:Actin-binding-like protein(gene name synonym)|uniprotkb:Thyroid autoantigen(gene name synonym)|uniprotkb:Truncated actin-binding protein(gene name synonym)|uniprotkb:ABP-280 homolog(gene name synonym)|uniprotkb:ABP-278(gene name synonym)|uniprotkb:Filamin-3(gene name synonym)|uniprotkb:Filamin homolog 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001157791.1|refseq:NP_001448.2|go:"GO:0003334"(keratinocyte development)|go:"GO:0003382"(epithelial cell morphogenesis)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005925"(focal adhesion)|go:"GO:0005938"(cell cortex)|go:"GO:0007165"(signal transduction)|go:"GO:0007519"(skeletal muscle tissue development)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030018"(Z disc)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043025"(neuronal cell body)|go:"GO:0045296"(cadherin binding)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071346"(cellular response to interferon-gamma)|interpro:IPR001298(Filamin/ABP280 repeat)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR017868|interpro:IPR029874|interpro:IPR036872|interpro:IPR044801|mint:O75369|rcsb pdb:2DI8|rcsb pdb:2DI9|rcsb pdb:2DIA|rcsb pdb:2DIB|rcsb pdb:2DIC|rcsb pdb:2DJ4|rcsb pdb:2DLG|rcsb pdb:2DMB|rcsb pdb:2DMC|rcsb pdb:2E9I|rcsb pdb:2E9J|rcsb pdb:2EE6|rcsb pdb:2EE9|rcsb pdb:2EEA|rcsb pdb:2EEB|rcsb pdb:2EEC|rcsb pdb:2EED|rcsb pdb:2WA5|rcsb pdb:2WA6|rcsb pdb:2WA7|rcsb pdb:3FER|rcsb pdb:4B7L|rcsb pdb:5DCP|reactome:R-HSA-1169408|ensembl:ENSG00000136068(gene)|ensembl:ENST00000295956(transcript)|go:"GO:0001725"(stress fiber)|refseq:NP_001157789.1|refseq:NP_001157790.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:lsf6C/Vg0io7UhUi1Kapgwp0p5E9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68363 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-487083|intact:EBI-1384226|uniprotkb:P04687|uniprotkb:P05209|uniprotkb:Q27I68|ensembl:ENSP00000336799|uniprotkb:Q8WU19 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tba1b_human(display_long)|uniprotkb:TUBA1B(gene name)|psi-mi:TUBA1B(display_short)|uniprotkb:Tubulin alpha-ubiquitous chain(gene name synonym)|uniprotkb:Alpha-tubulin ubiquitous(gene name synonym)|uniprotkb:Tubulin K-alpha-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006073.2|ensembl:ENSG00000123416(gene)|ensembl:ENST00000336023(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0005881"(cytoplasmic microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0030705"(cytoskeleton-dependent intracellular transport)|go:"GO:0031625"(ubiquitin protein ligase binding)|reactome:R-HSA-983189|go:"GO:0071353"(cellular response to interleukin-4)|interpro:IPR000217(Tubulin)|go:"GO:0045121"(membrane raft)|interpro:IPR002452(Alpha tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P68363|rcsb pdb:2E4H|rcsb pdb:5IJ0|rcsb pdb:5IJ9|rcsb pdb:5N5N|rcsb pdb:6E7B|rcsb pdb:6E7C|rcsb pdb:6I2I|go:"GO:0051301"(cell division)|rcsb pdb:6J4V|rcsb pdb:6J8O|rcsb pdb:6QUS|rcsb pdb:6QUY|rcsb pdb:6QVE|rcsb pdb:6QVJ|rcsb pdb:6S8L|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|reactome:R-HSA-9013407|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-2132295|reactome:R-HSA-9668328 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:D4YpuLCXl/S+53qV7P7sF81aARY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06396 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351506|uniprotkb:Q8WVV7|ensembl:ENSP00000362924|uniprotkb:Q5T0I2|uniprotkb:A8MUD1|uniprotkb:B7Z373|uniprotkb:A2A418|uniprotkb:A8MYN7|uniprotkb:B7Z5V1|uniprotkb:F5H1A8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gels_human(display_long)|uniprotkb:GSN(gene name)|psi-mi:GSN(display_short)|uniprotkb:Actin-depolymerizing factor(gene name synonym)|uniprotkb:Brevin(gene name synonym)|uniprotkb:AGEL(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000168.1|refseq:NP_001121134.1|refseq:NP_001121136.1|refseq:NP_001121137.1|refseq:NP_001121138.1|refseq:NP_001121139.1|refseq:NP_937895.1|refseq:XP_011516888.1|refseq:XP_011516889.1|refseq:XP_011516890.1|refseq:XP_011516891.1|refseq:XP_011516892.1|refseq:XP_011516893.1|refseq:XP_011516894.1|refseq:XP_011516895.1|ensembl:ENSG00000148180(gene)|ensembl:ENST00000373818(transcript)|go:"GO:0002102"(podosome)|go:"GO:0003779"(actin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006911"(phagocytosis, engulfment)|go:"GO:0007417"(central nervous system development)|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0014891"(striated muscle atrophy)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016528"(sarcoplasm)|go:"GO:0030031"(cell projection assembly)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0030042"(actin filament depolymerization)|go:"GO:0030478"(actin cap)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031648"(protein destabilization)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0035994"(response to muscle stretch)|go:"GO:0036313"(phosphatidylinositol 3-kinase catalytic subunit binding)|go:"GO:0042989"(sequestering of actin monomers)|go:"GO:0045010"(actin nucleation)|go:"GO:0045159"(myosin II binding)|go:"GO:0046597"(negative regulation of viral entry into host cell)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0051127"(positive regulation of actin nucleation)|go:"GO:0051693"(actin filament capping)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060271"(cilium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071801"(regulation of podosome assembly)|go:"GO:0072562"(blood microparticle)|go:"GO:0086003"(cardiac muscle cell contraction)|go:"GO:0090527"(actin filament reorganization)|go:"GO:0097017"(renal protein absorption)|go:"GO:0097284"(hepatocyte apoptotic process)|go:"GO:1902174"(positive regulation of keratinocyte apoptotic process)|go:"GO:1903903"(regulation of establishment of T cell polarity)|go:"GO:1903906"(regulation of plasma membrane raft polarization)|go:"GO:1903909"(regulation of receptor clustering)|go:"GO:1903923"(positive regulation of protein processing in phagocytic vesicle)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1990000"(amyloid fibril formation)|go:"GO:2001269"(positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway)|interpro:IPR007122(Gelsolin)|interpro:IPR007123(Gelsolin region)|interpro:IPR029006|interpro:IPR030004|mint:P06396|rcsb pdb:1C0F|rcsb pdb:1C0G|rcsb pdb:1D4X|rcsb pdb:1DEJ|rcsb pdb:1EQY|rcsb pdb:1ESV|rcsb pdb:1H1V|rcsb pdb:1KCQ|rcsb pdb:1MDU|rcsb pdb:1NLV|rcsb pdb:1NM1|rcsb pdb:1NMD|rcsb pdb:1P8X|rcsb pdb:1SOL|rcsb pdb:1T44|rcsb pdb:1YAG|rcsb pdb:1YVN|rcsb pdb:2FF3|rcsb pdb:2FF6|rcsb pdb:2FH1|rcsb pdb:2FH2|rcsb pdb:2FH3|rcsb pdb:2FH4|rcsb pdb:3A5L|rcsb pdb:3A5M|rcsb pdb:3A5N|rcsb pdb:3A5O|rcsb pdb:3CI5|rcsb pdb:3CIP|rcsb pdb:3CJB|rcsb pdb:3CJC|rcsb pdb:3FFK|rcsb pdb:3FFN|rcsb pdb:3TU5|rcsb pdb:4PKG|rcsb pdb:4PKH|rcsb pdb:4PKI|rcsb pdb:4S10|rcsb pdb:4Z94|rcsb pdb:5DD2|rcsb pdb:5FAE|rcsb pdb:5FAF|rcsb pdb:5H3M|rcsb pdb:5H3N|rcsb pdb:5O2Z|rcsb pdb:5UBO|rcsb pdb:5ZZ0|rcsb pdb:6H1F|rcsb pdb:6JCO|rcsb pdb:6JEG|rcsb pdb:6JEH|rcsb pdb:6LJE|rcsb pdb:6LJF|rcsb pdb:6Q9R|rcsb pdb:6Q9Z|rcsb pdb:6QBF|rcsb pdb:1P8Z|rcsb pdb:6QW3|reactome:R-HSA-264870|reactome:R-HSA-6798695|reactome:R-HSA-9662361|reactome:R-HSA-977225|refseq:NP_001244958.1|refseq:NP_001244959.1|refseq:NP_001121135.2|refseq:XP_005252000.1|refseq:XP_005252001.1|refseq:XP_005252002.1|refseq:XP_006717142.1|refseq:XP_016870135.1|refseq:XP_016870136.1|refseq:XP_016870137.1|dip:DIP-2196N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uACf9A+H6LAOAZSMGYqeDwUL1Mc9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68032 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352273|uniprotkb:P04270|ensembl:ENSP00000290378 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actc_human(display_long)|uniprotkb:ACTC1(gene name)|psi-mi:ACTC1(display_short)|uniprotkb:ACTC(gene name synonym)|uniprotkb:Alpha-cardiac actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005150.1|ensembl:ENSG00000159251(gene)|ensembl:ENST00000290378(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005869"(dynactin complex)|go:"GO:0005884"(actin filament)|go:"GO:0005925"(focal adhesion)|go:"GO:0007015"(actin filament organization)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0017022"(myosin binding)|go:"GO:0030017"(sarcomere)|go:"GO:0030027"(lamellipodium)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030175"(filopodium)|go:"GO:0030240"(skeletal muscle thin filament assembly)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0031674"(I band)|go:"GO:0033275"(actin-myosin filament sliding)|go:"GO:0042493"|go:"GO:0044297"(cell body)|go:"GO:0045471"(response to ethanol)|go:"GO:0055003"(cardiac myofibril assembly)|go:"GO:0055008"(cardiac muscle tissue morphogenesis)|go:"GO:0060047"(heart contraction)|go:"GO:0060048"(cardiac muscle contraction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:0090131"(mesenchyme migration)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:P68032|reactome:R-HSA-390522|reactome:R-HSA-8980692|reactome:R-HSA-9013026 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:U/lKYqWUWMSC3fBHFaAcgzfk+3w9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92614 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-949059|ensembl:ENSP00000437073|uniprotkb:Q5H9U3|uniprotkb:Q5W9F9|uniprotkb:Q5W9G1|uniprotkb:Q8IXP8|uniprotkb:Q5QD01 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:my18a_human(display_long)|uniprotkb:Myosin containing a PDZ domain(gene name synonym)|uniprotkb:Molecule associated with JAK3 N-terminus(gene name synonym)|uniprotkb:MYO18A(gene name)|psi-mi:MYO18A(display_short)|uniprotkb:KIAA0216(gene name synonym)|uniprotkb:MYSPDZ(gene name synonym)|uniprotkb:CD245(gene name synonym)|uniprotkb:Surfactant protein receptor SP-R210(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 dip:DIP-46631N|ensembl:ENSG00000196535(gene)|ensembl:ENST00000527372(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0006259"(DNA metabolic process)|go:"GO:0007030"(Golgi organization)|go:"GO:0008094"(ATP-dependent activity, acting on DNA)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0016459"(myosin complex)|go:"GO:0016477"(cell migration)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0042641"(actomyosin)|go:"GO:0043030"(regulation of macrophage activation)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043531"(ADP binding)|go:"GO:0048194"(Golgi vesicle budding)|go:"GO:0050714"(positive regulation of protein secretion)|go:"GO:0051015"(actin filament binding)|go:"GO:0090161"(Golgi ribbon formation)|go:"GO:0090164"(asymmetric Golgi ribbon formation)|go:"GO:1903028"(positive regulation of opsonization)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002928(Myosin tail)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR020587|interpro:IPR027417|interpro:IPR031244|interpro:IPR036034|interpro:IPR036064|interpro:IPR036961|interpro:IPR041489|reactome:R-HSA-1839117|reactome:R-HSA-5655302|reactome:R-HSA-9703465|refseq:NP_510880.2|refseq:NP_976063.1|refseq:NP_001333696.1|refseq:NP_001333697.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IunEYt79RO62wU6VU2gv16Xb7Lk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35579 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350338|uniprotkb:O60805|ensembl:ENSP00000216181|uniprotkb:Q86T83|intact:EBI-1054343|uniprotkb:A8K6E4|uniprotkb:Q60FE2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myh9_human(display_long)|uniprotkb:MYH9(gene name)|psi-mi:MYH9(display_short)|uniprotkb:Myosin heavy chain 9(gene name synonym)|uniprotkb:Myosin heavy chain, non-muscle IIa(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain IIa(gene name synonym)|uniprotkb:Cellular myosin heavy chain, type A(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002464.1|ensembl:ENSG00000100345(gene)|ensembl:ENST00000216181(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0000212"(meiotic spindle organization)|go:"GO:0001525"(angiogenesis)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0001725"(stress fiber)|go:"GO:0001726"(ruffle)|go:"GO:0001768"(establishment of T cell polarity)|go:"GO:0001772"(immunological synapse)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0001931"(uropod)|go:"GO:0003723"(RNA binding)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005819"(spindle)|go:"GO:0005826"(actomyosin contractile ring)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0006509"(membrane protein ectodomain proteolysis)|go:"GO:0006911"(phagocytosis, engulfment)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0007520"(myoblast fusion)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0009898"(cytoplasmic side of plasma membrane)|go:"GO:0015031"(protein transport)|refseq:XP_011528499.1|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016460"(myosin II complex)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030220"(platelet formation)|go:"GO:0030224"(monocyte differentiation)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0031252"(cell leading edge)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0032154"(cleavage furrow)|go:"GO:0032418"(lysosome localization)|go:"GO:0032506"(cytokinetic process)|go:"GO:0032796"(uropod organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042641"(actomyosin)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043495"(protein-membrane adaptor activity)|go:"GO:0043531"(ADP binding)|go:"GO:0043534"(blood vessel endothelial cell migration)|go:"GO:0045055"(regulated exocytosis)|go:"GO:0045296"(cadherin binding)|go:"GO:0050900"(leukocyte migration)|go:"GO:0051015"(actin filament binding)|go:"GO:0051295"(establishment of meiotic spindle localization)|go:"GO:0060471"(cortical granule exocytosis)|go:"GO:0060473"(cortical granule)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0097513"(myosin II filament)|go:"GO:1903919"(negative regulation of actin filament severing)|rcsb pdb:4CFR|rcsb pdb:4ETO|reactome:R-HSA-1445148|reactome:R-HSA-2029482|reactome:R-HSA-3928663|reactome:R-HSA-416572|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9662834|reactome:R-HSA-9664422|go:"GO:1903923"(positive regulation of protein processing in phagocytic vesicle)|go:"GO:1905684"(regulation of plasma membrane repair)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002928(Myosin tail)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR008989(Myosin S1 fragment, N-terminal)|interpro:IPR027417|interpro:IPR036305|interpro:IPR036961|mint:P35579|rcsb pdb:2LNK|rcsb pdb:3ZWH|rcsb pdb:4CFQ|refseq:XP_016884292.1|refseq:XP_016884293.1|refseq:XP_016884294.1|refseq:XP_016884295.1|dip:DIP-33103N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fSOtpFpr8PSnAG5UdAr/khwkzJs9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q08211 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352022|intact:EBI-1058470|uniprotkb:Q5VY62|uniprotkb:Q6PD69|uniprotkb:Q99556|uniprotkb:B2RNV4|uniprotkb:Q05CI5|uniprotkb:Q12803|uniprotkb:Q32Q22|ensembl:ENSP00000356520 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dhx9_human(display_long)|uniprotkb:DHX9(gene name)|psi-mi:DHX9(display_short)|uniprotkb:DDX9(gene name synonym)|uniprotkb:NDH2(gene name synonym)|uniprotkb:DExH-box helicase 9(gene name synonym)|uniprotkb:RNA helicase A(gene name synonym)|uniprotkb:LKP(gene name synonym)|uniprotkb:Nuclear DNA helicase II(gene name synonym)|uniprotkb:DEAH box protein 9(gene name synonym)|uniprotkb:Leukophysin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001348.2|dip:DIP-31504N|go:"GO:0017111"(nucleoside-triphosphatase activity)|go:"GO:0030423"(targeting of mRNA for destruction involved in RNA interference)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0032508"(DNA duplex unwinding)|go:"GO:0032727"(positive regulation of interferon-alpha production)|go:"GO:0032728"(positive regulation of interferon-beta production)|go:"GO:0032741"(positive regulation of interleukin-18 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033679"(3'-5' DNA/RNA helicase activity)|go:"GO:0034458"(3'-5' RNA helicase activity)|go:"GO:0034622"|go:"GO:0035197"(siRNA binding)|go:"GO:0035613"(RNA stem-loop binding)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0039695"(DNA-templated viral transcription)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0043138"(3'-5' DNA helicase activity)|go:"GO:0044806"(G-quadruplex DNA unwinding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045142"(triplex DNA binding)|go:"GO:0045739"(positive regulation of DNA repair)|go:"GO:0045740"(positive regulation of DNA replication)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046833"(positive regulation of RNA export from nucleus)|go:"GO:0046872"(metal ion binding)|go:"GO:0047429"(nucleoside-triphosphate diphosphatase activity)|go:"GO:0048146"(positive regulation of fibroblast proliferation)|go:"GO:0048511"(rhythmic process)|go:"GO:0050434"(positive regulation of viral transcription)|go:"GO:0050684"(regulation of mRNA processing)|go:"GO:0050691"(regulation of defense response to virus by host)|go:"GO:0050729"(positive regulation of inflammatory response)|go:"GO:0051028"(mRNA transport)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0060760"(positive regulation of response to cytokine stimulus)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0061676"(importin-alpha family protein binding)|go:"GO:0070063"(RNA polymerase binding)|go:"GO:0070269"(pyroptosis)|go:"GO:0070578"(RISC-loading complex)|go:"GO:0070922"(small RNA loading onto RISC)|go:"GO:0070934"(CRD-mediated mRNA stabilization)|go:"GO:0070937"(CRD-mediated mRNA stability complex)|go:"GO:0071356"(cellular response to tumor necrosis factor)|go:"GO:0071360"(cellular response to exogenous dsRNA)|go:"GO:0097165"(nuclear stress granule)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1903608"(protein localization to cytoplasmic stress granule)|go:"GO:1905172"(RISC complex binding)|go:"GO:1905538"(polysome binding)|go:"GO:1905698"(positive regulation of polysome binding)|go:"GO:1990518"(single-stranded 3'-5' DNA helicase activity)|go:"GO:1990825"(sequence-specific mRNA binding)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000373"("positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity")|go:"GO:2000637"(positive regulation of gene silencing by miRNA)|go:"GO:2000765"(regulation of cytoplasmic translation)|go:"GO:2000767"(positive regulation of cytoplasmic translation)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR002464(DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site)|interpro:IPR007502(Helicase-associated region)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR011709(Region of unknown function DUF1605)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR014720(Double-stranded RNA-binding-like)|interpro:IPR027417|interpro:IPR044445|interpro:IPR044446|interpro:IPR044447|mint:Q08211|rcsb pdb:3LLM|rcsb pdb:3VYX|rcsb pdb:3VYY|reactome:R-HSA-1810476|reactome:R-HSA-3134963|reactome:R-HSA-72163|go:"GO:1904973"(positive regulation of viral translation)|ensembl:ENSG00000135829(gene)|ensembl:ENST00000367549(transcript)|go:"GO:0000380"(alternative mRNA splicing, via spliceosome)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000993"(RNA polymerase II complex binding)|go:"GO:0001069"(regulatory region RNA binding)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003677"(DNA binding)|go:"GO:0003678"(DNA helicase activity)|go:"GO:0003688"(DNA replication origin binding)|go:"GO:0003690"(double-stranded DNA binding)|go:"GO:0003697"(single-stranded DNA binding)|go:"GO:0003712"(transcription coregulator activity)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0003727"(single-stranded RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005726"(perichromatin fibrils)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0006260"(DNA replication)|go:"GO:0006353"(DNA-templated transcription, termination)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006954"(inflammatory response)|go:"GO:0010501"(RNA secondary structure unwinding)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016442"(RISC complex)|go:"GO:0016604"(nuclear body) intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:b0VP2Frtvwa9WbYVMwB6TbV2uGU9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46821 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-764611|uniprotkb:A2BDK5|ensembl:ENSP00000296755 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:map1b_human(display_long)|uniprotkb:MAP1B(gene name)|psi-mi:MAP1B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005900.2|dip:DIP-33474N|ensembl:ENSG00000131711(gene)|ensembl:ENST00000296755(transcript)|go:"GO:0001578"(microtubule bundle formation)|go:"GO:0001750"(photoreceptor outer segment)|go:"GO:0001764"(neuron migration)|go:"GO:0003779"(actin binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005543"(phospholipid binding)|go:"GO:0005829"(cytosol)|go:"GO:0005874"(microtubule)|go:"GO:0005875"(microtubule associated complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0007026"(negative regulation of microtubule depolymerization)|go:"GO:0007409"(axonogenesis)|go:"GO:0007416"(synapse assembly)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0008017"(microtubule binding)|go:"GO:0009612"(response to mechanical stimulus)|go:"GO:0009743"(response to carbohydrate)|go:"GO:0009987"(cellular process)|go:"GO:0010035"(response to inorganic substance)|go:"GO:0014012"(peripheral nervous system axon regeneration)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016358"(dendrite development)|go:"GO:0021700"(developmental maturation)|go:"GO:0030424"(axon)|go:"GO:0030425"(dendrite)|go:"GO:0030426"(growth cone)|go:"GO:0031114"(regulation of microtubule depolymerization)|go:"GO:0031116"(positive regulation of microtubule polymerization)|go:"GO:0032355"(response to estradiol)|go:"GO:0032387"(negative regulation of intracellular transport)|go:"GO:0033189"(response to vitamin A)|go:"GO:0036477"(somatodendritic compartment)|go:"GO:0042493"|go:"GO:0043025"(neuronal cell body)|go:"GO:0043196"(varicosity)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0017085"(response to insecticide)|go:"GO:0045202"(synapse)|go:"GO:0045666"(positive regulation of neuron differentiation)|go:"GO:0045773"(positive regulation of axon extension)|go:"GO:0047497"(mitochondrion transport along microtubule)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048675"(axon extension)|go:"GO:0051915"(induction of synaptic plasticity by chemical substance)|go:"GO:0061162"(establishment of monopolar cell polarity)|go:"GO:0071363"(cellular response to growth factor stimulus)|go:"GO:0071375"(cellular response to peptide hormone stimulus)|go:"GO:0097440"(apical dendrite)|go:"GO:0097441"(basal dendrite)|go:"GO:0097457"(hippocampal mossy fiber)|interpro:IPR000102(Neuraxin/MAP1B repeat)|go:"GO:0044877"(protein-containing complex binding)|interpro:IPR027321|mint:P46821|interpro:IPR026074 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uSRzrWaYU/dmkItUkCK4zex+/TM9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15746 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-968482|intact:EBI-28987351|ensembl:ENSP00000353452|uniprotkb:O95796|uniprotkb:O95797|uniprotkb:O95798|uniprotkb:O95799|uniprotkb:Q14844|uniprotkb:Q16794|uniprotkb:Q5MY99|uniprotkb:Q5MYA0|intact:EBI-1758586|uniprotkb:B4DUE3|uniprotkb:D3DN97|uniprotkb:Q17S15|uniprotkb:Q6P2N0|uniprotkb:Q7Z4J0|uniprotkb:Q9C0L5|uniprotkb:Q9UBG5|uniprotkb:Q9UIT9|intact:EBI-1963605|uniprotkb:Q3ZCP9|uniprotkb:Q9UBY6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mylk_human(display_long)|uniprotkb:MYLK(gene name)|psi-mi:MYLK(display_short)|uniprotkb:MLCK(gene name synonym)|uniprotkb:Telokin(gene name synonym)|uniprotkb:Kinase-related protein(gene name synonym)|uniprotkb:MLCK1(gene name synonym)|uniprotkb:MYLK1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000065534(gene)|go:"GO:0006939"(smooth muscle contraction)|go:"GO:0014820"(tonic smooth muscle contraction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0032060"(bleb assembly)|go:"GO:0032154"(cleavage furrow)|go:"GO:0046872"(metal ion binding)|go:"GO:0051928"(positive regulation of calcium ion transport)|go:"GO:0060414"(aorta smooth muscle tissue morphogenesis)|go:"GO:0071476"(cellular hypotonic response)|go:"GO:0090303"(positive regulation of wound healing)|interpro:IPR000719(Protein kinase, core)|interpro:IPR003598(Immunoglobulin subtype 2)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR003961(Fibronectin, type III)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR013098(Immunoglobulin I-set)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR015725(Myosin Light Chain Kinase)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR036116|ensembl:ENST00000360304(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0004672"(protein kinase activity)|go:"GO:0004687"(myosin light chain kinase activity)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006468"(protein phosphorylation)|interpro:IPR036179|rcsb pdb:2K0F|rcsb pdb:2YR3|rcsb pdb:2CQV|rcsb pdb:5JQA|rcsb pdb:5JTH|rcsb pdb:6C6M|reactome:R-HSA-445355|reactome:R-HSA-5627123|refseq:NP_444253.3|refseq:NP_444254.3|refseq:NP_444255.3|refseq:NP_444256.3|refseq:NP_444259.1|refseq:NP_001308238.1|refseq:XP_011511162.1|ensembl:ENST00000346322|ensembl:ENSP00000320622|ensembl:ENSP00000354004|ensembl:ENST00000418370|ensembl:ENSP00000428967|ensembl:ENST00000578202|ensembl:ENSP00000463691|ensembl:ENST00000583087|ensembl:ENSP00000462118|ensembl:ENST00000360772|ensembl:ENSP00000353452|refseq:NP_444260.1|refseq:XP_016861958.1|refseq:XP_016861960.1|refseq:XP_016861961.1|refseq:XP_016861962.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Wm0QbKY5KOVPytbFu5NCcT0Z1ek9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P14136 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-744302|uniprotkb:Q53H98|uniprotkb:Q5D055|uniprotkb:Q6ZQS3|uniprotkb:Q7Z5J6|uniprotkb:Q7Z5J7|uniprotkb:Q96KS4|uniprotkb:Q96P18|uniprotkb:Q9UFD0|uniprotkb:B2RD44|uniprotkb:D3DX59|intact:EBI-3909365|uniprotkb:E9PAX3|ensembl:ENSP00000466598|uniprotkb:A7REI1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gfap_human(display_long)|uniprotkb:GFAP(gene name)|psi-mi:GFAP(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001124491.1|refseq:NP_001229305.1|refseq:NP_002046.1|ensembl:ENSG00000131095(gene)|ensembl:ENST00000588735(transcript)|go:"GO:0005178"(integrin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005882"(intermediate filament)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0009611"(response to wounding)|go:"GO:0010467"(gene expression)|go:"GO:0010625"(positive regulation of Schwann cell proliferation)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0014002"(astrocyte development)|go:"GO:0019900"(kinase binding)|go:"GO:0030198"(extracellular matrix organization)|go:"GO:0031102"(neuron projection regeneration)|go:"GO:0042802"(identical protein binding)|go:"GO:0043254"(regulation of protein-containing complex assembly)|go:"GO:0044297"(cell body)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0051580"(regulation of neurotransmitter uptake)|go:"GO:0060020"(Bergmann glial cell differentiation)|go:"GO:0060291"(long-term synaptic potentiation)|go:"GO:0070779"(D-aspartate import across plasma membrane)|go:"GO:0097450"(astrocyte end-foot)|go:"GO:0098574"(cytoplasmic side of lysosomal membrane)|go:"GO:1904714"(regulation of chaperone-mediated autophagy)|interpro:IPR006821(Intermediate filament, DNA-binding region)|interpro:IPR018039|interpro:IPR027701|interpro:IPR039008|mint:P14136|rcsb pdb:6A9P|reactome:R-HSA-1251985|reactome:R-HSA-9613829 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Pz4JW0WjMjBYILTDSX9jUmMqWhg9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P21333 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350432|uniprotkb:Q8NF52|intact:EBI-1103234|ensembl:ENSP00000358866|uniprotkb:Q5HY53|uniprotkb:Q5HY55|uniprotkb:E9KL45 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:flna_human(display_long)|uniprotkb:FLNA(gene name)|psi-mi:FLNA(display_short)|uniprotkb:FLN(gene name synonym)|uniprotkb:FLN1(gene name synonym)|uniprotkb:Alpha-filamin(gene name synonym)|uniprotkb:Filamin-1(gene name synonym)|uniprotkb:Endothelial actin-binding protein(gene name synonym)|uniprotkb:Actin-binding protein 280(gene name synonym)|uniprotkb:Non-muscle filamin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0007195"(adenylate cyclase-inhibiting dopamine receptor signaling pathway)|go:"GO:1902396"(protein localization to bicellular tight junction)|refseq:NP_001104026.1|refseq:NP_001447.2|ensembl:ENSG00000196924(gene)|ensembl:ENST00000369850(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001664"(G protein-coupled receptor binding)|go:"GO:0001837"(epithelial to mesenchymal transition)|go:"GO:0001974"(blood vessel remodeling)|go:"GO:0003007"(heart morphogenesis)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005829"(cytosol)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048680"(positive regulation of axon regeneration)|go:"GO:0050808"(synapse organization)|go:"GO:0050821"(protein stabilization)|go:"GO:0051015"(actin filament binding)|go:"GO:0051020"(GTPase binding)|go:"GO:0051220"(cytoplasmic sequestering of protein)|go:"GO:0051764"(actin crosslink formation)|go:"GO:0060271"(cilium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0071526"(semaphorin-plexin signaling pathway)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0090042"(tubulin deacetylation)|go:"GO:0090307"(mitotic spindle assembly)|go:"GO:0097368"(establishment of Sertoli cell barrier)|go:"GO:0097440"(apical dendrite)|go:"GO:0098794"(postsynapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1900026"(positive regulation of substrate adhesion-dependent cell spreading)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:0046332"(SMAD binding)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0015459"(potassium channel regulator activity)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016479"(negative regulation of transcription by RNA polymerase I)|go:"GO:0019900"(kinase binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0021943"(formation of radial glial scaffolds)|go:"GO:0021987"(cerebral cortex development)|go:"GO:0030018"(Z disc)|go:"GO:0030334"(regulation of cell migration)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031523"(Myb complex)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0031852"(mu-type opioid receptor binding)|go:"GO:0032233"(positive regulation of actin filament bundle assembly)|go:"GO:0032432"(actin filament bundle)|go:"GO:0034394"(protein localization to cell surface)|go:"GO:0034988"(Fc-gamma receptor I complex binding)|go:"GO:0042177"(negative regulation of protein catabolic process)|go:"GO:0042307"(positive regulation of protein import into nucleus)|go:"GO:0042789"(mRNA transcription by RNA polymerase II)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043113"(receptor clustering)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043198"(dendritic shaft)|go:"GO:0043204"(perikaryon)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0044295"(axonal growth cone)|go:"GO:0044319"(wound healing, spreading of cells)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0045022"(early endosome to late endosome transport)|go:"GO:0045184"(establishment of protein localization)|go:"GO:0045216"(cell-cell junction organization)|go:"GO:0045296"(cadherin binding)|reactome:R-HSA-114608|reactome:R-HSA-430116|reactome:R-HSA-446353|reactome:R-HSA-5627123|reactome:R-HSA-8983711|rcsb pdb:6EW1|go:"GO:1905031"(regulation of membrane repolarization during cardiac muscle cell action potential)|go:"GO:2000179"(positive regulation of neural precursor cell proliferation)|go:"GO:2001046"(positive regulation of integrin-mediated signaling pathway)|go:"GO:2001224"(positive regulation of neuron migration)|interpro:IPR001298(Filamin/ABP280 repeat)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR017868|interpro:IPR036872|interpro:IPR044801|mint:P21333|rcsb pdb:2AAV|rcsb pdb:2BP3|rcsb pdb:2BRQ|rcsb pdb:2J3S|rcsb pdb:2JF1|rcsb pdb:2K3T|rcsb pdb:2K7P|rcsb pdb:2K7Q|rcsb pdb:2MTP|rcsb pdb:2W0P|rcsb pdb:2WFN|rcsb pdb:3CNK|rcsb pdb:3HOC|rcsb pdb:3HOP|rcsb pdb:3HOR|rcsb pdb:3ISW|rcsb pdb:3RGH|rcsb pdb:4M9P|rcsb pdb:4P3W|rcsb pdb:5XR1|rcsb pdb:6D8C|go:"GO:1905000"(regulation of membrane repolarization during atrial cardiac muscle cell action potential)|dip:DIP-1136N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZxGK5OSMy8cNsyt7Ax2KXb8bn9M9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O43707 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351526|uniprotkb:O76048|uniprotkb:D6PXK4|ensembl:ENSP00000252699|ensembl:ENSP00000489220|uniprotkb:A4K467 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actn4_human(display_long)|uniprotkb:ACTN4(gene name)|psi-mi:ACTN4(display_short)|uniprotkb:Non-muscle alpha-actinin 4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004915.2|ensembl:ENSG00000130402(gene)|ensembl:ENSG00000282844(gene)|ensembl:ENST00000252699(transcript)|ensembl:ENST00000634960(transcript)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0001882"(nucleoside binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005925"(focal adhesion)|go:"GO:0015031"(protein transport)|go:"GO:0016604"(nuclear body)|go:"GO:0016922"(nuclear receptor binding)|go:"GO:0030050"(vesicle transport along actin filament)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0031093"(platelet alpha granule lumen)|go:"GO:0031143"(pseudopodium)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0032417"("positive regulation of sodium:proton antiporter activity")|go:"GO:0032991"(protein-containing complex)|go:"GO:0033209"(tumor necrosis factor-mediated signaling pathway)|go:"GO:0035357"(peroxisome proliferator activated receptor signaling pathway)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042974"(retinoic acid receptor binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0048384"(retinoic acid receptor signaling pathway)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051015"(actin filament binding)|go:"GO:0051272"(positive regulation of cellular component movement)|go:"GO:0070062"(extracellular exosome)|go:"GO:1900025"(negative regulation of substrate adhesion-dependent cell spreading)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1903506"(regulation of nucleic acid-templated transcription)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR014837(EF-hand, Ca insensitive)|interpro:IPR018159|interpro:IPR018247|interpro:IPR036872|mint:O43707|rcsb pdb:1WLX|rcsb pdb:1YDI|rcsb pdb:2R0O|rcsb pdb:6O31|rcsb pdb:6OA6|reactome:R-HSA-114608|reactome:R-HSA-373753|dip:DIP-33179N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kTYezA2lEtL/AQPfCQ8BE79nzow9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15149 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-297903|intact:EBI-1103289|intact:EBI-1103265|intact:EBI-1055056|uniprotkb:Q15148|uniprotkb:Q16640|ensembl:ENSP00000323856|uniprotkb:Q6S376|intact:EBI-28976159|uniprotkb:Q6S380|intact:EBI-1103313|uniprotkb:Q6S377|uniprotkb:Q6S378|uniprotkb:Q6S379|intact:EBI-1103301|intact:EBI-1103253|uniprotkb:Q6S381|uniprotkb:Q6S382|uniprotkb:Q6S383|intact:EBI-2825763 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:plec_human(display_long)|uniprotkb:PLEC(gene name)|psi-mi:PLEC(display_short)|uniprotkb:Hemidesmosomal protein 1(gene name synonym)|uniprotkb:PLEC1(gene name synonym)|uniprotkb:Plectin-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0030018"(Z disc)|go:"GO:0030056"(hemidesmosome)|go:"GO:0030424"(axon)|go:"GO:0030425"(dendrite)|go:"GO:0030506"(ankyrin binding)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0031581"(hemidesmosome assembly)|go:"GO:0031668"(cellular response to extracellular stimulus)|go:"GO:0032094"(response to food)|go:"GO:0032287"(peripheral nervous system myelin maintenance)|go:"GO:0034332"(adherens junction organization)|go:"GO:0034613"(cellular protein localization)|go:"GO:0035264"(multicellular organism growth)|go:"GO:0042060"(wound healing)|go:"GO:0042383"(sarcolemma)|go:"GO:0043034"(costamere)|go:"GO:0043114"(regulation of vascular permeability)|go:"GO:0043209"(myelin sheath)|go:"GO:0043621"(protein self-association)|go:"GO:0043933"(protein-containing complex organization)|go:"GO:0045104"(intermediate filament cytoskeleton organization)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0022904"(respiratory electron transport chain)|go:"GO:0045214"(sarcomere organization)|go:"GO:0045296"(cadherin binding)|go:"GO:0045445"(myoblast differentiation)|go:"GO:0048471"(perinuclear region of cytoplasm)|ensembl:ENSG00000178209(gene)|ensembl:ENST00000322810(transcript)|go:"GO:0000902"(cell morphogenesis)|go:"GO:0002162"(dystroglycan binding)|go:"GO:0002522"(leukocyte migration involved in immune response)|go:"GO:0003334"(keratinocyte development)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005737"(cytoplasm)|go:"GO:0055013"(cardiac muscle cell development)|go:"GO:0061436"(establishment of skin barrier)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070584"(mitochondrion morphogenesis)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071464"(cellular response to hydrostatic pressure)|go:"GO:0071498"(cellular response to fluid shear stress)|go:"GO:0120193"(tight junction organization)|go:"GO:2000689"(actomyosin contractile ring assembly actin filament organization)|go:"GO:2000983"(regulation of ATP citrate synthase activity)|interpro:IPR001101(Plectin repeat)|interpro:IPR001452(Src homology-3)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR005326(Plectin/S10, N-terminal)|go:"GO:0048741"(skeletal muscle fiber development)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005925"(focal adhesion)|go:"GO:0006469"(negative regulation of protein kinase activity)|go:"GO:0006997"(nucleus organization)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0010467"(gene expression)|go:"GO:0010761"(fibroblast migration)|go:"GO:0010818"(T cell chemotaxis)|go:"GO:0014866"(skeletal myofibril assembly)|go:"GO:0016020"(membrane)|go:"GO:0016528"(sarcoplasm)|go:"GO:0016569"(obsolete covalent chromatin modification)|go:"GO:0019226"(transmission of nerve impulse)|interpro:IPR030269|interpro:IPR035915|interpro:IPR018159|interpro:IPR036388|interpro:IPR036872|interpro:IPR041573|interpro:IPR041615|interpro:IPR043197|mint:Q15149|rcsb pdb:1MB8|rcsb pdb:2N03|rcsb pdb:2ODU|rcsb pdb:2ODV|rcsb pdb:3F7P|rcsb pdb:3PDY|rcsb pdb:3PE0|rcsb pdb:4GDO|rcsb pdb:4Q58|rcsb pdb:4Q59|rcsb pdb:5J1F|rcsb pdb:5J1G|rcsb pdb:5J1H|rcsb pdb:5J1I|reactome:R-HSA-2022090|reactome:R-HSA-264870|reactome:R-HSA-446107|ensembl:ENST00000436759|ensembl:ENSP00000388180|ensembl:ENST00000527096|ensembl:ENSP00000434583|ensembl:ENSP00000323856|ensembl:ENST00000345136|ensembl:ENSP00000344848|ensembl:ENST00000354589|ensembl:ENSP00000346602|ensembl:ENST00000354958|ensembl:ENSP00000347044|ensembl:ENST00000356346|ensembl:ENSP00000348702|ensembl:ENST00000357649|ensembl:ENSP00000350277|ensembl:ENST00000398774|ensembl:ENSP00000381756|refseq:NP_000436.2|refseq:NP_958780.1|refseq:NP_958781.1|refseq:NP_958782.1|refseq:NP_958783.1|refseq:NP_958784.1|refseq:NP_958785.1|refseq:NP_958786.1 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:zbctDAOOCaJUx3WBdp85v7SI0sI9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P08670 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353844|uniprotkb:Q15867|uniprotkb:Q15868|uniprotkb:Q15869|uniprotkb:Q548L2|uniprotkb:Q6LER9|uniprotkb:Q8N850|uniprotkb:Q96ML2|uniprotkb:Q9NTM3|uniprotkb:B0YJC2|intact:EBI-3442369|uniprotkb:D3DRU4|ensembl:ENSP00000224237|ensembl:ENSP00000446007 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:vime_human(display_long)|uniprotkb:VIM(gene name)|psi-mi:VIM(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003371.2|ensembl:ENSG00000026025(gene)|ensembl:ENST00000224237(transcript)|ensembl:ENST00000544301(transcript)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0005737"(cytoplasm)|go:"GO:0005777"(peroxisome)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005882"(intermediate filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0014002"(astrocyte development)|go:"GO:0016363"(nuclear matrix)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031252"(cell leading edge)|go:"GO:0032967"(positive regulation of collagen biosynthetic process)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0060020"(Bergmann glial cell differentiation)|go:"GO:0070307"(lens fiber cell development)|go:"GO:0060395"(SMAD protein signal transduction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0097110"(scaffold protein binding)|go:"GO:1990254"(keratin filament binding)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR006821(Intermediate filament, DNA-binding region)|interpro:IPR018039|interpro:IPR027699|interpro:IPR039008|mint:P08670|rcsb pdb:1GK4|rcsb pdb:1GK6|rcsb pdb:1GK7|rcsb pdb:3G1E|rcsb pdb:3KLT|rcsb pdb:3S4R|rcsb pdb:3SSU|rcsb pdb:3SWK|rcsb pdb:3TRT|rcsb pdb:3UF1|rcsb pdb:4MCY|rcsb pdb:4MCZ|rcsb pdb:4MD0|rcsb pdb:4MD5|rcsb pdb:4MDI|rcsb pdb:4MDJ|rcsb pdb:4YPC|rcsb pdb:4YV3|rcsb pdb:5WHF|rcsb pdb:6ATF|rcsb pdb:6ATI|rcsb pdb:6BIR|rcsb pdb:6YXK|reactome:R-HSA-264870|reactome:R-HSA-390522|reactome:R-HSA-6785807|reactome:R-HSA-9013422|reactome:R-HSA-9613829|reactome:R-HSA-9615710|reactome:R-HSA-9646399|refseq:XP_006717563.1|dip:DIP-32507N intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GhAhVuXMNxi6P5J0CfNi5l9bjRk9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P63261 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351292|uniprotkb:P02571|uniprotkb:P14104|uniprotkb:P99022|uniprotkb:Q5U032|uniprotkb:Q96E67|uniprotkb:A8K7C2|ensembl:ENSP00000505060|ensembl:ENSP00000505193|ensembl:ENSP00000505235|ensembl:ENSP00000506126|ensembl:ENSP00000506201|ensembl:ENSP00000506253|ensembl:ENSP00000458162|ensembl:ENSP00000458435|ensembl:ENSP00000459119|ensembl:ENSP00000459124|ensembl:ENSP00000460464|ensembl:ENSP00000460660|ensembl:ENSP00000461672|ensembl:ENSP00000466346|ensembl:ENSP00000477968 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actg_human(display_long)|uniprotkb:ACTG1(gene name)|psi-mi:ACTG1(display_short)|uniprotkb:ACTG(gene name synonym)|uniprotkb:Gamma-actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27045766|imex:IM-29110-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001186883.1|refseq:NP_001605.1|ensembl:ENST00000570382(transcript)|ensembl:ENSG00000184009(gene)|ensembl:ENST00000571721(transcript)|ensembl:ENST00000573283(transcript)|ensembl:ENST00000575087(transcript)|ensembl:ENST00000575659(transcript)|ensembl:ENST00000575842(transcript)|ensembl:ENST00000575994(transcript)|ensembl:ENST00000576544(transcript)|ensembl:ENST00000615544(transcript)|ensembl:ENST00000679480(transcript)|ensembl:ENST00000679778(transcript)|ensembl:ENST00000680227(transcript)|ensembl:ENST00000680727(transcript)|ensembl:ENST00000681052(transcript)|ensembl:ENST00000681842(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001738"(morphogenesis of a polarized epithelium)|go:"GO:0001895"(retina homeostasis)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005522"(profilin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0030016"(myofibril)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0031941"(filamentous actin)|go:"GO:0035633"(maintenance of blood-brain barrier)|go:"GO:0042802"(identical protein binding)|go:"GO:0043296"(apical junction complex)|go:"GO:0044305"(calyx of Held)|go:"GO:0045214"(sarcomere organization)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0048488"(synaptic vesicle endocytosis)|go:"GO:0051492"(regulation of stress fiber assembly)|go:"GO:0051893"(regulation of focal adhesion assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0072562"(blood microparticle)|go:"GO:0090303"(positive regulation of wound healing)|go:"GO:0097433"(dense body)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0098973"(structural constituent of postsynaptic actin cytoskeleton)|go:"GO:0120192"(tight junction assembly)|go:"GO:0120220"(basal body patch)|go:"GO:0150111"(regulation of transepithelial transport)|go:"GO:1902396"(protein localization to bicellular tight junction)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:P63261|rcsb pdb:5JLH|rcsb pdb:6CXI|rcsb pdb:6CXJ|rcsb pdb:6G2T|rcsb pdb:6V62|rcsb pdb:6V63|rcsb pdb:6WK1|rcsb pdb:6WK2|reactome:R-HSA-1445148|reactome:R-HSA-190873|reactome:R-HSA-196025|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-3928665|reactome:R-HSA-418990|reactome:R-HSA-437239|reactome:R-HSA-4420097|reactome:R-HSA-445095|reactome:R-HSA-446353|reactome:R-HSA-5626467|reactome:R-HSA-5663213|reactome:R-HSA-5663220|reactome:R-HSA-5674135|reactome:R-HSA-6802946|reactome:R-HSA-6802948|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-8856828|reactome:R-HSA-9013418|reactome:R-HSA-9649948|reactome:R-HSA-9656223|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9664422 intact:EBI-27044482(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics list I|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B2OOsE06lTfo90H3g8tlmUJQ7cY9606 rigid:ajjf/gCU3E0NzT/yReL+6gqcFFQ false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P10644 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-476431|uniprotkb:Q567S7|uniprotkb:K7ER48|ensembl:ENSP00000351410|ensembl:ENSP00000376475|ensembl:ENSP00000445625|ensembl:ENSP00000464977|ensembl:ENSP00000466459 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:kap0_human(display_long)|uniprotkb:Tissue-specific extinguisher 1(gene name synonym)|uniprotkb:PRKAR1A(gene name)|psi-mi:PRKAR1A(display_short)|uniprotkb:PKR1(gene name synonym)|uniprotkb:PRKAR1(gene name synonym)|uniprotkb:TSE1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002725.1|refseq:NP_997636.1|refseq:NP_997637.1|refseq:XP_011523285.1|refseq:XP_011523286.1|refseq:XP_011523287.1|refseq:NP_001263218.1|refseq:NP_001263219.1|refseq:NP_001265362.1|dip:DIP-34368N|ensembl:ENSG00000108946(gene)|ensembl:ENST00000358598(transcript)|ensembl:ENST00000392711(transcript)|ensembl:ENST00000536854(transcript)|ensembl:ENST00000586397(transcript)|ensembl:ENST00000589228(transcript)|go:"GO:0001707"(mesoderm formation)|go:"GO:0004862"(cAMP-dependent protein kinase inhibitor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005771"(multivesicular body)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005952"(cAMP-dependent protein kinase complex)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007143"(female meiotic nuclear division)|go:"GO:0008603"(cAMP-dependent protein kinase regulator activity)|go:"GO:0010738"(regulation of protein kinase A signaling)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030552"(cAMP binding)|go:"GO:0031588"(nucleotide-activated protein kinase complex)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034236"(protein kinase A catalytic subunit binding)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0043949"(regulation of cAMP-mediated signaling)|go:"GO:0044853"(plasma membrane raft)|go:"GO:0045214"(sarcomere organization)|go:"GO:0045835"(negative regulation of meiotic nuclear division)|go:"GO:0046007"(negative regulation of activated T cell proliferation)|go:"GO:0060038"(cardiac muscle cell proliferation)|go:"GO:0097224"(sperm connecting piece)|go:"GO:0097546"(ciliary base)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:2000480"(negative regulation of cAMP-dependent protein kinase activity)|interpro:IPR000595(Cyclic nucleotide-binding)|interpro:IPR003117(cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta)|interpro:IPR012198(cAMP-dependent protein kinase regulatory subunit)|interpro:IPR014710(RmlC-like jelly roll fold)|interpro:IPR018488|rcsb pdb:5KJZ|reactome:R-HSA-163615|reactome:R-HSA-164378|reactome:R-HSA-180024|reactome:R-HSA-381676|reactome:R-HSA-432040|reactome:R-HSA-442720|reactome:R-HSA-5610787|reactome:R-HSA-9660821|reactome:R-HSA-9664323|reactome:R-HSA-983231|interpro:IPR018490|mint:P10644|rcsb pdb:5KJX|rcsb pdb:5KJY intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dUZaCJQnC0KZEG4pccIqoT066VY9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P41212 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1372759|uniprotkb:A3QVP6|uniprotkb:Q9UMF6|uniprotkb:Q9UMF7|uniprotkb:Q9UMG0|uniprotkb:A8K076|ensembl:ENSP00000379658 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:etv6_human(display_long)|uniprotkb:ETS translocation variant 6(gene name synonym)|uniprotkb:ETS-related protein Tel1(gene name synonym)|uniprotkb:ETV6(gene name)|psi-mi:ETV6(display_short)|uniprotkb:TEL(gene name synonym)|uniprotkb:TEL1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001978.1|dip:DIP-17028N|ensembl:ENSG00000139083(gene)|ensembl:ENST00000396373(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0001228"(DNA-binding transcription activator activity, RNA polymerase II-specific)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007296"(vitellogenesis)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0022008"(neurogenesis)|go:"GO:0030154"(cell differentiation)|go:"GO:0071425"(hematopoietic stem cell proliferation)|go:"GO:0097152"(mesenchymal cell apoptotic process)|interpro:IPR000418(Ets)|rcsb pdb:5L0P|rcsb pdb:7JU2|rcsb pdb:7N1O|rcsb pdb:7N2B|reactome:R-HSA-9673768|reactome:R-HSA-9703465|interpro:IPR003118(Sterile alpha motif/pointed)|interpro:IPR013761(Sterile alpha motif-type)|interpro:IPR036388|interpro:IPR036390|mint:P41212|rcsb pdb:1JI7|rcsb pdb:1LKY|rcsb pdb:2DAO|rcsb pdb:2QAR|rcsb pdb:2QB0|rcsb pdb:2QB1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ekItHLbEk2Expb+mR7jHa6dPBo89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96AV8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1386765|uniprotkb:B3KUP8|uniprotkb:A6NC74|uniprotkb:B2RMR7|uniprotkb:B3KTZ5|uniprotkb:B5MED9|ensembl:ENSP00000323246 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e2f7_human(display_long)|uniprotkb:E2F7(gene name)|psi-mi:E2F7(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_976328.2|ensembl:ENSG00000165891(gene)|ensembl:ENST00000322886(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0000987"(cis-regulatory region sequence-specific DNA binding)|go:"GO:0001217"(DNA-binding transcription repressor activity)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0001890"(placenta development)|go:"GO:0002040"(sprouting angiogenesis)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016607"(nuclear speck)|go:"GO:0030330"(DNA damage response, signal transduction by p53 class mediator)|go:"GO:0032466"(negative regulation of cytokinesis)|go:"GO:0032877"(positive regulation of DNA endoreduplication)|go:"GO:0042802"(identical protein binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0060707"(trophoblast giant cell differentiation)|go:"GO:0060718"(chorionic trophoblast cell differentiation)|go:"GO:0070365"(hepatocyte differentiation)|go:"GO:0071930"(negative regulation of transcription involved in G1/S transition of mitotic cell cycle)|go:"GO:0090575"(RNA polymerase II transcription regulator complex)|go:"GO:1990837"(sequence-specific double-stranded DNA binding)|go:"GO:2000134"(negative regulation of G1/S transition of mitotic cell cycle)|interpro:IPR003316("Transcription factor E2F/dimerisation partner (TDP)")|interpro:IPR015633(E2F Family)|interpro:IPR036388|interpro:IPR036390|mint:Q96AV8|reactome:R-HSA-6804116 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:QyyGEJfgxGZZogHf4jQ06CI9ioc9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P53999 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-998260|uniprotkb:Q96L29|ensembl:ENSP00000265073|ensembl:ENSP00000422078|ensembl:ENSP00000422806|ensembl:ENSP00000426850|ensembl:ENSP00000427100 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tcp4_human(display_long)|uniprotkb:SUB1 homolog(gene name synonym)|uniprotkb:Positive cofactor 4(gene name synonym)|uniprotkb:p14(gene name synonym)|uniprotkb:SUB1(gene name)|psi-mi:SUB1(display_short)|uniprotkb:PC4(gene name synonym)|uniprotkb:RPO2TC1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011512246.1|ensembl:ENSG00000113387(gene)|ensembl:ENST00000265073(transcript)|ensembl:ENST00000502897(transcript)|ensembl:ENST00000506237(transcript)|ensembl:ENST00000512913(transcript)|ensembl:ENST00000515355(transcript)|go:"GO:0070062"(extracellular exosome)|interpro:IPR003173(Transcriptional coactivator p15)|interpro:IPR009044(ssDNA-binding transcriptional regulator)|mint:P53999|rcsb pdb:1PCF|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|rcsb pdb:2C62|rcsb pdb:2PHE|rcsb pdb:4USG|go:"GO:0003697"(single-stranded DNA binding)|rcsb pdb:6YCS|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0005730"(nucleolus)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0042802"(identical protein binding)|go:"GO:0051053"(negative regulation of DNA metabolic process)|go:"GO:0060261"(positive regulation of transcription initiation from RNA polymerase II promoter)|go:"GO:0060395"(SMAD protein signal transduction)|refseq:NP_006704.3|refseq:XP_016864475.1|refseq:XP_016864476.1|dip:DIP-29044N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:FqBKBuLmQS+idbd68EdKsTCzPg89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y2H1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-991501|uniprotkb:Q8TBX7|uniprotkb:A8K4U0|uniprotkb:B4E3J8|ensembl:ENSP00000373684 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:st38l_human(display_long)|uniprotkb:NDR2 protein kinase(gene name synonym)|uniprotkb:Nuclear Dbf2-related kinase 2(gene name synonym)|uniprotkb:STK38L(gene name)|psi-mi:STK38L(display_short)|uniprotkb:KIAA0965(gene name synonym)|uniprotkb:NDR2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_006719121.1|ensembl:ENSG00000211455(gene)|ensembl:ENST00000389032(transcript)|go:"GO:0000287"(magnesium ion binding)|go:"GO:0003779"(actin binding)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0018105"(peptidyl-serine phosphorylation)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0051128"(regulation of cellular component organization)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|go:"GO:0005524"(ATP binding)|interpro:IPR000719(Protein kinase, core)|interpro:IPR000961(Protein kinase, C-terminal)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR017892|mint:Q9Y2H1|rcsb pdb:5XQZ|refseq:NP_055815.1|refseq:XP_011518915.1|refseq:XP_016874525.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:lKXWdkeLMD/YCxa1oQz9k0aoW3I9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BRS2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-7307838|intact:MINT-1630868|uniprotkb:Q96NV9|uniprotkb:B2RB28|uniprotkb:Q8NDC8|ensembl:ENSP00000369162 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:riok1_human(display_long)|uniprotkb:RIOK1(gene name)|psi-mi:RIOK1(display_short)|uniprotkb:RIO kinase 1(gene name synonym)|uniprotkb:RIO1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_113668.2|ensembl:ENSG00000124784(gene)|ensembl:ENST00000379834(transcript)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0016787"(hydrolase activity)|go:"GO:0030490"(maturation of SSU-rRNA)|go:"GO:0030688"(preribosome, small subunit precursor)|go:"GO:0034708"(methyltransferase complex)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0046872"(metal ion binding)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|go:"GO:2000234"(positive regulation of rRNA processing)|interpro:IPR000687(RIO kinase)|interpro:IPR011009(Protein kinase-like)|interpro:IPR017407(Serine/threonine-protein kinase Rio1)|interpro:IPR018935|rcsb pdb:4OTP|rcsb pdb:6G5I|rcsb pdb:6V0N|rcsb pdb:6ZV6|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|reactome:R-HSA-6791226 intact:EBI-27047305(see-also) - comment:mint|comment:homomint figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:1Da5yQeq0zHVuRviiNdxy8/3TqI9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E5RH77 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-8011822|intact:MINT-8395059|ensembl:ENSP00000429856 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e5rh77_human(display_long)|uniprotkb:RPS14(gene name)|psi-mi:RPS14(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000164587(gene)|ensembl:ENST00000518139(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001971(Ribosomal protein S11)|interpro:IPR036967 intact:EBI-27047305(see-also) - comment:mint|comment:homomint figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:DmPsXRfEYnNjdlzq/0oOfzV2CsU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9J9K3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-8011875|intact:MINT-8395011|ensembl:ENSP00000410848 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9j9k3_human(display_long)|uniprotkb:RPSA(gene name)|psi-mi:RPSA(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000168028(gene)|ensembl:ENST00000458478(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005737"(cytoplasm)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|interpro:IPR001865(Ribosomal protein S2)|interpro:IPR005707(Ribosomal protein S2, eukaryotic/archaeal)|interpro:IPR018130|interpro:IPR023591|interpro:IPR027498|interpro:IPR032281 intact:EBI-27047305(see-also) - comment:mint|comment:homomint figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:slFqShCmEHqqyQj4TKTsI7Vum3s9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8N3X6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-7138654|ensembl:ENSP00000371661|uniprotkb:Q96NK1|intact:MINT-8247449 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lcorl_human(display_long)|uniprotkb:LCORL(gene name)|psi-mi:LCORL(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000178177(gene)|ensembl:ENST00000382226(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:1990226"(histone methyltransferase binding)|interpro:IPR007889(Helix-turn-helix, Psq)|interpro:IPR009057(Homeodomain-like)|mint:Q8N3X6|refseq:NP_001159611.1|refseq:NP_710153.2 intact:EBI-27047305(see-also) - comment:mint|comment:homomint figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:SdBCrM1WJt4MBqkxpIqhIbfWHjM9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BZE0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-7251368|intact:MINT-2816833|uniprotkb:B3KX84|ensembl:ENSP00000262366|ensembl:ENSP00000395547|ensembl:ENSP00000484027|ensembl:ENSP00000488242 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:glis2_human(display_long)|uniprotkb:GLIS2(gene name)|psi-mi:GLIS2(display_short)|uniprotkb:NKL(gene name synonym)|uniprotkb:GLI-similar 2(gene name synonym)|uniprotkb:Neuronal Krueppel-like protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001305847.1|refseq:NP_115964.2|refseq:XP_005255698.1|ensembl:ENSG00000126603(gene)|ensembl:ENSG00000274636(gene)|ensembl:ENST00000262366(transcript)|ensembl:ENST00000433375(transcript)|ensembl:ENST00000612491(transcript)|ensembl:ENST00000633051(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000976"(transcription cis-regulatory region binding)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001228"(DNA-binding transcription activator activity, RNA polymerase II-specific)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007417"(central nervous system development)|go:"GO:0016607"(nuclear speck)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0045879"(negative regulation of smoothened signaling pathway)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|go:"GO:0060994"(regulation of transcription from RNA polymerase II promoter involved in kidney development)|go:"GO:0061005"(cell differentiation involved in kidney development)|go:"GO:0061484"(hematopoietic stem cell homeostasis)|go:"GO:0097730"(non-motile cilium)|go:"GO:1900182"(positive regulation of protein localization to nucleus)|go:"GO:1990837"(sequence-specific double-stranded DNA binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR030432|interpro:IPR036236|mint:Q9BZE0 intact:EBI-27047305(see-also) - function:"Defects in GLIS2 are the cause of nephronophthisis type 7 (NPHP7) [MIM:611498]. NPHP7 is an autosomal recessive disorder resulting in end-stage renal disease during childhood or adolescence. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts"|function:Can act either as a transcription repressor or as a transcription activator, depending on the cell context. Represses the transcriptional activation mediated by CTNNB1 in the Wnt pathway. May act by recruiting the corepressors CTBP1 and HDAC3. May be involved in neuron differentiation|comment:mint figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:BfNq3+Pi1hildF6UojR3SKx98/89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5W010 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046346|ensembl:ENSP00000408214 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:q5w010_human(display_long)|uniprotkb:RBM17(gene name)|psi-mi:RBM17(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000134453(gene)|ensembl:ENST00000432931(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0043484"(regulation of RNA splicing)|interpro:IPR040052 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IPVo209RVZ2K/0Zz98uFb2TpDOM9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35527 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356382|uniprotkb:O00109|uniprotkb:Q0IJ47|uniprotkb:Q14665|ensembl:ENSP00000246662 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k1c9_human(display_long)|uniprotkb:KRT9(gene name)|psi-mi:KRT9(display_short)|uniprotkb:Keratin-9(gene name synonym)|uniprotkb:Cytokeratin-9(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000217.2|ensembl:ENSG00000171403(gene)|ensembl:ENST00000246662(transcript)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005882"(intermediate filament)|go:"GO:0007283"(spermatogenesis)|go:"GO:0008544"(epidermis development)|go:"GO:0016020"(membrane)|go:"GO:0043588"(skin development)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002957(Keratin, type I)|interpro:IPR018039|interpro:IPR039008|mint:P35527|reactome:R-HSA-6805567|reactome:R-HSA-6809371 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:m4EXfxbK2t1/EmI04YODKTJ02Zw9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68366 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351772|uniprotkb:A8MUB1|uniprotkb:P05215|ensembl:ENSP00000248437|uniprotkb:B3KNQ6|intact:EBI-11134566 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tba4a_human(display_long)|uniprotkb:TUBA4A(gene name)|psi-mi:TUBA4A(display_short)|uniprotkb:Tubulin alpha-1 chain(gene name synonym)|uniprotkb:Alpha-tubulin 1(gene name synonym)|uniprotkb:Testis-specific alpha-tubulin(gene name synonym)|uniprotkb:Tubulin H2-alpha(gene name synonym)|uniprotkb:TUBA1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005991.1|ensembl:ENSG00000127824(gene)|ensembl:ENST00000248437(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005874"(microtubule)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0019901"(protein kinase binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002452(Alpha tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P68366|reactome:R-HSA-114608|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-2565942|reactome:R-HSA-3371497|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620912|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8854518|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|refseq:NP_001265481.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6Oj9O8u7E6cLUJ1eT6y5slbk7uQ9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5UIP0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-711331|uniprotkb:A6NC27|uniprotkb:C9JBR1|uniprotkb:Q5H9R3|uniprotkb:Q5UIP2|uniprotkb:Q66YK6|uniprotkb:Q6PRU2|uniprotkb:Q8TE94|uniprotkb:Q99772|uniprotkb:Q9H830|uniprotkb:Q9H9B9|uniprotkb:Q9NVP5|uniprotkb:Q9Y4R4|ensembl:ENSP00000243326|ensembl:ENSP00000390181 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rif1_human(display_long)|uniprotkb:RIF1(gene name)|psi-mi:RIF1(display_short)|uniprotkb:Rap1-interacting factor 1 homolog(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0007049"(cell cycle)|go:"GO:0016604"(nuclear body)|go:"GO:0019827"(stem cell population maintenance)|go:"GO:0031965"(nuclear membrane)|go:"GO:0035861"(site of double-strand break)|go:"GO:0043247"(telomere maintenance in response to DNA damage)|go:"GO:0045830"(positive regulation of isotype switching)|go:"GO:0051233"(spindle midzone)|go:"GO:0051574"(positive regulation of histone H3-K9 methylation)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|go:"GO:2000042"(negative regulation of double-strand break repair via homologous recombination)|go:"GO:2001034"(positive regulation of double-strand break repair via nonhomologous end joining)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR022031|interpro:IPR028566|mint:Q5UIP0|reactome:R-HSA-5693571|ensembl:ENSG00000080345(gene)|ensembl:ENST00000243326(transcript)|ensembl:ENST00000444746(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000723"(telomere maintenance)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000785"(chromatin)|go:"GO:0000793"(condensed chromosome)|go:"GO:0001939"(female pronucleus)|go:"GO:0001940"(male pronucleus)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0006281"(DNA repair)|go:"GO:0006348"|go:"GO:0006974"(cellular response to DNA damage stimulus)|refseq:NP_001171134.1|refseq:NP_001171135.1|refseq:NP_001171136.1|refseq:NP_060621.3|refseq:XP_005246722.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XM3dyJZ0U4P2OUvgW3LOX2MLRDs9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P48634 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-347545|uniprotkb:Q05BK4|uniprotkb:Q4LE37|uniprotkb:Q8MGQ9|uniprotkb:O95875|uniprotkb:Q5SQ29|uniprotkb:Q5SQ30|uniprotkb:Q5ST84|uniprotkb:Q5STX6|uniprotkb:Q5STX7|uniprotkb:Q68DW9|uniprotkb:Q6P9P7|uniprotkb:Q6PIN1|uniprotkb:Q96QC6|uniprotkb:B0UZL3|uniprotkb:B0UZE9|uniprotkb:B0UX77|ensembl:ENSP00000365175|ensembl:ENSP00000365201|ensembl:ENSP00000372947|ensembl:ENSP00000372956|ensembl:ENSP00000387477|ensembl:ENSP00000387910|ensembl:ENSP00000396812|ensembl:ENSP00000400540|ensembl:ENSP00000404619|ensembl:ENSP00000408226|ensembl:ENSP00000409444|ensembl:ENSP00000413977|ensembl:ENSP00000415182|ensembl:ENSP00000415363 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:prc2a_human(display_long)|uniprotkb:HLA-B-associated transcript 2(gene name synonym)|uniprotkb:PRRC2A(gene name)|psi-mi:PRRC2A(display_short)|uniprotkb:G2(gene name synonym)|uniprotkb:Protein G2(gene name synonym)|uniprotkb:BAT2(gene name synonym)|uniprotkb:Large proline-rich protein BAT2(gene name synonym)|uniprotkb:Proline-rich and coiled-coil-containing protein 2A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_542417.2|refseq:NP_004629.3|ensembl:ENSP00000372956|ensembl:ENSP00000404619|ensembl:ENSP00000415182|ensembl:ENSP00000415363|ensembl:ENSP00000387910|ensembl:ENSP00000413977|ensembl:ENSP00000408226|ensembl:ENSP00000409444|ensembl:ENSP00000400540|ensembl:ENSP00000387477|ensembl:ENSP00000396812|ensembl:ENSP00000365175|ensembl:ENSP00000365201|ensembl:ENSP00000372947|ensembl:ENSG00000204469(gene)|ensembl:ENSG00000206427(gene)|ensembl:ENSG00000225164(gene)|ensembl:ENSG00000225748(gene)|ensembl:ENSG00000226618(gene)|ensembl:ENSG00000231370(gene)|ensembl:ENSG00000231825(gene)|ensembl:ENST00000376007(transcript)|ensembl:ENST00000376033(transcript)|ensembl:ENST00000383455(transcript)|ensembl:ENST00000383464(transcript)|ensembl:ENST00000414956(transcript)|ensembl:ENST00000416335(transcript)|ensembl:ENST00000422962(transcript)|ensembl:ENST00000428775(transcript)|ensembl:ENST00000430737(transcript)|ensembl:ENST00000432252(transcript)|ensembl:ENST00000435971(transcript)|ensembl:ENST00000439762(transcript)|ensembl:ENST00000454306(transcript)|ensembl:ENST00000458561(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0016020"(membrane)|go:"GO:0030154"(cell differentiation)|go:"GO:0070062"(extracellular exosome)|interpro:IPR009738(BAT2, N-terminal)|interpro:IPR033184|mint:P48634 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6XZhA7FHJ4ckoWPf1yI/OnaNwjo9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q99417 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-716185|intact:EBI-2559925|uniprotkb:Q5TA64|uniprotkb:Q96HE2|uniprotkb:B2R4N0|ensembl:ENSP00000380702 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mycbp_human(display_long)|uniprotkb:Associate of Myc 1(gene name synonym)|uniprotkb:MYCBP(gene name)|psi-mi:MYCBP(display_short)|uniprotkb:AMY1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036465.2|ensembl:ENSG00000214114(gene)|ensembl:ENST00000397572(transcript)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0007283"(spermatogenesis)|interpro:IPR026060|mint:Q99417|rcsb pdb:2YY0 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:jIStn1A10DDkgTuwVeKpDPJ6tIs9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q16875 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-764464|uniprotkb:Q5VX18|uniprotkb:O43622|uniprotkb:O75902|intact:EBI-2834088|uniprotkb:Q5VX19|uniprotkb:B7Z955|uniprotkb:Q5VX15|ensembl:ENSP00000369100 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f263_human(display_long)|uniprotkb:6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme(gene name synonym)|uniprotkb:iPFK-2(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-56(gene name synonym)|uniprotkb:PFKFB3(gene name)|psi-mi:PFKFB3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004557.1|refseq:NP_001269559.1|refseq:NP_001300992.1|dip:DIP-33964N|ensembl:ENSG00000170525(gene)|ensembl:ENST00000379775(transcript)|go:"GO:0003873"(6-phosphofructo-2-kinase activity)|go:"GO:0004331"(fructose-2,6-bisphosphate 2-phosphatase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006000"(fructose metabolic process)|go:"GO:0006003"(fructose 2,6-bisphosphate metabolic process)|go:"GO:0007420"(brain development)|interpro:IPR001345(Phosphoglycerate/bisphosphoglycerate mutase)|interpro:IPR003094(Fructose-2,6-bisphosphatase)|interpro:IPR013078(Phosphoglycerate mutase)|interpro:IPR027417|interpro:IPR029033|rcsb pdb:2AXN|rcsb pdb:2DWO|rcsb pdb:2DWP|rcsb pdb:2I1V|rcsb pdb:3QPU|rcsb pdb:3QPV|rcsb pdb:3QPW|rcsb pdb:4D4J|rcsb pdb:4D4K|rcsb pdb:4D4L|rcsb pdb:4D4M|rcsb pdb:4MA4|rcsb pdb:5AJV|rcsb pdb:5AJW|rcsb pdb:5AJX|rcsb pdb:5AJY|rcsb pdb:5AJZ|rcsb pdb:5AK0|rcsb pdb:6ETJ|rcsb pdb:6HVH|rcsb pdb:6HVI|rcsb pdb:6HVJ|rcsb pdb:6IBX|rcsb pdb:6IBY|rcsb pdb:6IBZ|rcsb pdb:6IC0|reactome:R-HSA-9634600|interpro:IPR013079(6-phosphofructo-2-kinase) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:BPxZYy35rU3GFHZ0+i9FpfTQh9s9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O60884 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352957|ensembl:ENSP00000314030|uniprotkb:O14711|uniprotkb:B2R7L7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dnja2_human(display_long)|uniprotkb:DNAJA2(gene name)|psi-mi:DNAJA2(display_short)|uniprotkb:HIRIP4(gene name synonym)|uniprotkb:CPR3(gene name synonym)|uniprotkb:HIRA-interacting protein 4(gene name synonym)|uniprotkb:Cell cycle progression restoration gene 3 protein(gene name synonym)|uniprotkb:Dnj3(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-14(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000069345(gene)|ensembl:ENST00000317089(transcript)|go:"GO:0001671"(ATPase activator activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005829"(cytosol)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0009408"(response to heat)|go:"GO:0016020"(membrane)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0042026"(protein refolding)|go:"GO:0046872"(metal ion binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051087"(chaperone binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001305(Heat shock protein DnaJ, cysteine-rich region)|interpro:IPR001623(Heat shock protein DnaJ, N-terminal)|interpro:IPR002939(Chaperone DnaJ, C-terminal)|interpro:IPR008971(HSP40/DnaJ peptide-binding)|interpro:IPR012724(Chaperone DnaJ)|interpro:IPR036410|interpro:IPR036869|interpro:IPR044713|mint:O60884|reactome:R-HSA-3371497|interpro:IPR018253|refseq:NP_005871.1|dip:DIP-33143N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:c+JdHn0cKVKqRZCvK6DRYWs+zkQ9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P10599 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-594644|uniprotkb:B1ALW1|uniprotkb:O60744|uniprotkb:Q53X69|uniprotkb:Q96KI3|uniprotkb:Q9UDG5|intact:EBI-1042712|ensembl:ENSP00000363641 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:thio_human(display_long)|uniprotkb:ATL-derived factor(gene name synonym)|uniprotkb:Surface-associated sulphydryl protein(gene name synonym)|uniprotkb:TXN(gene name)|psi-mi:TXN(display_short)|uniprotkb:TRDX(gene name synonym)|uniprotkb:TRX(gene name synonym)|uniprotkb:TRX1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003320.2|refseq:NP_001231867.1|dip:DIP-6129N|ensembl:ENSG00000136810(gene)|ensembl:ENST00000374517(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0003723"(RNA binding)|go:"GO:0004791"(thioredoxin-disulfide reductase activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006662"(glycerol ether metabolic process)|go:"GO:0009314"(response to radiation)|go:"GO:0015035"(protein-disulfide reductase activity)|go:"GO:0032148"(activation of protein kinase B activity)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043388"(positive regulation of DNA binding)|go:"GO:0045454"(cell redox homeostasis)|go:"GO:0046826"(negative regulation of protein export from nucleus)|go:"GO:0047134"("protein-disulfide reductase (NAD(P)) activity")|go:"GO:0051897"(positive regulation of protein kinase B signaling)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071731"(response to nitric oxide)|go:"GO:1903206"(negative regulation of hydrogen peroxide-induced cell death)|go:"GO:2000170"(positive regulation of peptidyl-cysteine S-nitrosylation)|interpro:IPR005746(Thioredoxin)|interpro:IPR013766(Thioredoxin domain)|interpro:IPR017937|interpro:IPR036249|mint:P10599|rcsb pdb:1AIU|rcsb pdb:1AUC|rcsb pdb:1CQG|rcsb pdb:1CQH|rcsb pdb:1ERT|rcsb pdb:1ERU|rcsb pdb:1ERV|rcsb pdb:1ERW|rcsb pdb:1M7T|rcsb pdb:1MDI|rcsb pdb:1MDJ|rcsb pdb:1MDK|rcsb pdb:1TRS|rcsb pdb:1TRU|rcsb pdb:1TRV|rcsb pdb:1TRW|rcsb pdb:1W1C|rcsb pdb:1W1E|rcsb pdb:2HSH|rcsb pdb:2HXK|rcsb pdb:2IFQ|rcsb pdb:2IIY|rcsb pdb:3E3E|rcsb pdb:3KD0|rcsb pdb:3M9J|rcsb pdb:3M9K|rcsb pdb:3QFA|rcsb pdb:3QFB|rcsb pdb:3TRX|rcsb pdb:4LL1|rcsb pdb:4LL4|rcsb pdb:4OO4|rcsb pdb:4OO5|rcsb pdb:4POK|rcsb pdb:4POL|rcsb pdb:4POM|rcsb pdb:4PUF|rcsb pdb:4TRX|rcsb pdb:5DQY|reactome:R-HSA-2559580|reactome:R-HSA-3299685|reactome:R-HSA-499943|reactome:R-HSA-5628897|reactome:R-HSA-5676934|reactome:R-HSA-844456|reactome:R-HSA-9617629|reactome:R-HSA-9660826 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5u+iJJtwAwAKXljKHnpY8h5uRkQ9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14008 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-310585|uniprotkb:Q0VAX8|uniprotkb:Q14668|uniprotkb:Q05D70|uniprotkb:Q0VAX7|uniprotkb:Q2TA89|uniprotkb:Q6NSH4|intact:EBI-28968667|ensembl:ENSP00000432768 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ckap5_human(display_long)|uniprotkb:CKAP5(gene name)|psi-mi:CKAP5(display_short)|uniprotkb:KIAA0097(gene name synonym)|uniprotkb:Colonic and hepatic tumor overexpressed gene protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000312055|ensembl:ENSP00000310227|ensembl:ENST00000354558|ensembl:ENSP00000346566|ensembl:ENSP00000432768|refseq:NP_001008938.1|refseq:NP_055571.2|ensembl:ENSG00000175216(gene)|ensembl:ENST00000529230(transcript)|go:"GO:0000776"(kinetochore)|go:"GO:0000922"(spindle pole)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0007019"(microtubule depolymerization)|go:"GO:0007051"(spindle organization)|go:"GO:0007052"(mitotic spindle organization)|go:"GO:0007098"(centrosome cycle)|go:"GO:0008017"(microtubule binding)|go:"GO:0016020"(membrane)|go:"GO:0030951"(establishment or maintenance of microtubule cytoskeleton polarity)|go:"GO:0032991"(protein-containing complex)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0045296"(cadherin binding)|go:"GO:0046785"(microtubule polymerization)|go:"GO:0050658"(RNA transport)|go:"GO:0051298"(centrosome duplication)|go:"GO:0051301"(cell division)|go:"GO:0061863"(microtubule plus end polymerase)|go:"GO:0090063"(positive regulation of microtubule nucleation)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021133|interpro:IPR024395|interpro:IPR034085|mint:Q14008|rcsb pdb:4QMI|rcsb pdb:4QMJ|reactome:R-HSA-141444|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-2565942|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-5620912|reactome:R-HSA-5663220|reactome:R-HSA-68877|reactome:R-HSA-8854518|reactome:R-HSA-9648025 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3bgwyNEucxXwXdbxbJkJ07PC90w9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F8VUA6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046329|ensembl:ENSP00000447894 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f8vua6_human(display_long)|uniprotkb:RPL18(gene name)|psi-mi:RPL18(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000063177(gene)|ensembl:ENST00000550973(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR000039(Ribosomal protein L18e)|interpro:IPR021131|interpro:IPR036227 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Qg1tsN0iJU9IOK8rsNCaWj0QHfg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EPB3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21264855|ensembl:ENSP00000391446 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7epb3_human(display_long)|uniprotkb:RPL14(gene name)|psi-mi:RPL14(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000188846(gene)|ensembl:ENST00000416518(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR002784(Ribosomal protein L14)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR039660|interpro:IPR041985 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:INjqgtDGHHmR14PAmHVezlKncoE9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15910 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-530054|uniprotkb:Q15755|uniprotkb:Q92857|uniprotkb:B2RAQ1|uniprotkb:B3KS30|uniprotkb:B7Z1D6|uniprotkb:B7Z7L6|uniprotkb:Q96FI6|intact:EBI-746496|ensembl:ENSP00000419711|uniprotkb:Q75MG3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ezh2_human(display_long)|uniprotkb:KMT6(gene name synonym)|uniprotkb:Enhancer of zeste homolog 2(gene name synonym)|uniprotkb:ENX-1(gene name synonym)|uniprotkb:Lysine N-methyltransferase 6(gene name synonym)|uniprotkb:EZH2(gene name)|psi-mi:EZH2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011514186.1|refseq:NP_001190176.1|refseq:NP_001190177.1|refseq:NP_001190178.1|refseq:NP_004447.2|refseq:NP_694543.1|go:"GO:0051154"(negative regulation of striated muscle cell differentiation)|go:"GO:0051932"(synaptic transmission, GABAergic)|ensembl:ENSG00000106462(gene)|ensembl:ENST00000460911(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000979"(RNA polymerase II core promoter sequence-specific DNA binding)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005677"(chromatin silencing complex)|go:"GO:0005737"(cytoplasm)|go:"GO:0006306"(DNA methylation)|go:"GO:0006325"(chromatin organization)|go:"GO:0006348"|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0010718"(positive regulation of epithelial to mesenchymal transition)|go:"GO:0014013"(regulation of gliogenesis)|go:"GO:0014834"(skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration)|go:"GO:0014898"(cardiac muscle hypertrophy in response to stress)|go:"GO:0016279"(protein-lysine N-methyltransferase activity)|go:"GO:0016571"(histone methylation)|go:"GO:0018024"(histone-lysine N-methyltransferase activity)|go:"GO:0021695"(cerebellar cortex development)|go:"GO:0021766"(hippocampus development)|go:"GO:0030183"(B cell differentiation)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0032355"(response to estradiol)|go:"GO:0034244"(negative regulation of transcription elongation from RNA polymerase II promoter)|go:"GO:0035098"("ESC/E(Z) complex")|go:"GO:0035984"(cellular response to trichostatin A)|go:"GO:0036333"(hepatocyte homeostasis)|go:"GO:0042054"(histone methyltransferase activity)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0043547"(positive regulation of GTPase activity)|go:"GO:0045120"(pronucleus)|go:"GO:0045202"(synapse)|go:"GO:0045605"(negative regulation of epidermal cell differentiation)|go:"GO:0045814"(negative regulation of gene expression, epigenetic)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0046976"("histone methyltransferase activity (H3-K27 specific)")|go:"GO:0048387"(negative regulation of retinoic acid receptor signaling pathway)|go:"GO:0048468"(cell development)|go:"GO:0070301"(cellular response to hydrogen peroxide)|go:"GO:0070314"(G1 to G0 transition)|go:"GO:0070878"(primary miRNA binding)|go:"GO:0071168"(protein localization to chromatin)|go:"GO:0071902"(positive regulation of protein serine/threonine kinase activity)|go:"GO:0097421"(liver regeneration)|go:"GO:0098532"(histone H3-K27 trimethylation)|go:"GO:1900006"(positive regulation of dendrite development)|go:"GO:1900016"(negative regulation of cytokine production involved in inflammatory response)|go:"GO:1902808"(positive regulation of cell cycle G1/S phase transition)|go:"GO:1904772"(response to tetrachloromethane)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:2000134"(negative regulation of G1/S transition of mitotic cell cycle)|interpro:IPR001005(SANT, DNA-binding)|interpro:IPR001214(SET)|interpro:IPR021654|interpro:IPR026489|interpro:IPR033467|interpro:IPR041343|interpro:IPR041355|interpro:IPR044439|mint:Q15910|rcsb pdb:2C6V|rcsb pdb:4MI0|rcsb pdb:4MI5|rcsb pdb:5GSA|rcsb pdb:5H14|rcsb pdb:5H15|rcsb pdb:5H17|rcsb pdb:5H19|rcsb pdb:5H24|rcsb pdb:5H25|rcsb pdb:5HYN|rcsb pdb:5IJ7|rcsb pdb:5IJ8|rcsb pdb:5LS6|rcsb pdb:5U5T|rcsb pdb:5U62|rcsb pdb:5WG6|rcsb pdb:5WUK|rcsb pdb:6C23|rcsb pdb:6C24|rcsb pdb:6P5L|rcsb pdb:6U4Y|rcsb pdb:6WKR|rcsb pdb:7AT8|reactome:R-HSA-212300|reactome:R-HSA-2559580|reactome:R-HSA-3214841|reactome:R-HSA-5617472|reactome:R-HSA-8943724|reactome:R-HSA-8953750|reactome:R-HSA-9609690|go:"GO:0070734"(histone H3-K27 methylation)|reactome:R-HSA-9710421|go:"GO:0048511"(rhythmic process)|dip:DIP-34002N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZjwjEGDmMsyQ/33rYN7PimxvcUk9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F8WEI7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046322|ensembl:ENSP00000388296 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f8wei7_human(display_long)|uniprotkb:LGALS1(gene name)|psi-mi:LGALS1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000100097(gene)|ensembl:ENST00000454173(transcript) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VuRth9HfmrKSQeKkoy5AUbtGhD49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P84090 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-711389|uniprotkb:P70659|uniprotkb:Q14259|ensembl:ENSP00000451080|uniprotkb:B2R5H2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:erh_human(display_long)|uniprotkb:ERH(gene name)|psi-mi:ERH(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000100632(gene)|ensembl:ENST00000557016(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006139"(nucleobase-containing compound metabolic process)|go:"GO:0006213"(pyrimidine nucleoside metabolic process)|go:"GO:0007049"(cell cycle)|go:"GO:0008327"(methyl-CpG binding)|go:"GO:0030496"(midbody)|go:"GO:0034709"(methylosome)|interpro:IPR000781(Enhancer of rudimentary)|interpro:IPR035912|mint:P84090|rcsb pdb:1W9G|rcsb pdb:2NML|rcsb pdb:7CNC|refseq:NP_004441.1|dip:DIP-42473N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:foMOmvZ9wQyH0rrzBB2YlQhrT0g9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O43318 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358684|uniprotkb:O43317|uniprotkb:O43319|uniprotkb:Q9NZ70|uniprotkb:Q9NTR3|uniprotkb:E1P523|uniprotkb:Q5TDN2|uniprotkb:Q5TDN3|uniprotkb:B2RE27|uniprotkb:Q5TDT7|ensembl:ENSP00000358335 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m3k7_human(display_long)|uniprotkb:MAP3K7(gene name)|psi-mi:MAP3K7(display_short)|uniprotkb:TAK1(gene name synonym)|uniprotkb:Transforming growth factor-beta-activated kinase 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003179.1|refseq:NP_663304.1|refseq:NP_663305.1|refseq:NP_663306.1|go:"GO:0007252"(I-kappaB phosphorylation)|go:"GO:0007254"(JNK cascade)|go:"GO:0008349"(MAP kinase kinase kinase kinase activity)|go:"GO:0010008"(endosome membrane)|go:"GO:0016239"(positive regulation of macroautophagy)|go:"GO:0030971"(receptor tyrosine kinase binding)|go:"GO:0032743"(positive regulation of interleukin-2 production)|go:"GO:0038095"(Fc-epsilon receptor signaling pathway)|go:"GO:0042802"(identical protein binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043276"(anoikis)|go:"GO:0043507"(positive regulation of JUN kinase activity)|go:"GO:0043966"(histone H3 acetylation)|go:"GO:0050852"(T cell receptor signaling pathway)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051403"(stress-activated MAPK cascade)|ensembl:ENSG00000135341(gene)|go:"GO:0070423"(nucleotide-binding oligomerization domain containing signaling pathway)|ensembl:ENST00000369329(transcript)|go:"GO:0000186"(obsolete activation of MAPKK activity)|go:"GO:0070498"(interleukin-1-mediated signaling pathway)|go:"GO:0000187"(obsolete activation of MAPK activity)|go:"GO:0000287"(magnesium ion binding)|go:"GO:0002223"(stimulatory C-type lectin receptor signaling pathway)|go:"GO:0002726"(positive regulation of T cell cytokine production)|go:"GO:0002753"(cytoplasmic pattern recognition receptor signaling pathway)|go:"GO:0002755"(MyD88-dependent toll-like receptor signaling pathway)|go:"GO:0004672"(protein kinase activity)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0004709"(MAP kinase kinase kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005671"(obsolete Ada2/Gcn5/Ada3 transcription activator complex)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0007179"(transforming growth factor beta receptor signaling pathway)|go:"GO:0007249"(I-kappaB kinase/NF-kappaB signaling)|go:"GO:0007250"(activation of NF-kappaB-inducing kinase activity)|go:"GO:0097110"(scaffold protein binding)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|interpro:IPR000719(Protein kinase, core)|interpro:IPR001245(Tyrosine protein kinase)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR017421(Mitogen-activated protein kinase kinase kinase 7)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|mint:O43318|rcsb pdb:2EVA|rcsb pdb:2YIY|rcsb pdb:4GS6|rcsb pdb:4L3P|rcsb pdb:4L52|rcsb pdb:4L53|rcsb pdb:4O91|rcsb pdb:5E7R|rcsb pdb:5GJD|rcsb pdb:5GJF|rcsb pdb:5GJG|rcsb pdb:5J7S|rcsb pdb:5J8I|rcsb pdb:5J9L|rcsb pdb:5JGA|rcsb pdb:5JGB|rcsb pdb:5JGD|rcsb pdb:5JH6|rcsb pdb:5JK3|rcsb pdb:5V5N|rcsb pdb:7NTH|rcsb pdb:7NTI|reactome:R-HSA-1169091|reactome:R-HSA-168638|reactome:R-HSA-202424|reactome:R-HSA-2871837|reactome:R-HSA-4086398|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5357956|reactome:R-HSA-5607764|reactome:R-HSA-5689880|reactome:R-HSA-9014325|reactome:R-HSA-9020702|reactome:R-HSA-937042|reactome:R-HSA-937072|reactome:R-HSA-9645460|reactome:R-HSA-975163|dip:DIP-27523N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:U/W3xH9XPl6BIdCcfrw1gG/+n7Y9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96N67 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2433703|uniprotkb:Q00M63|uniprotkb:Q2PPY7|uniprotkb:Q45RE8|uniprotkb:Q45RE9|uniprotkb:Q5T1B9|uniprotkb:Q5T1C0|uniprotkb:Q6ZV32|uniprotkb:Q8TB82|uniprotkb:Q96NG6|uniprotkb:Q9C092|intact:EBI-7303260|intact:MINT-1683616|uniprotkb:Q96NI0|intact:EBI-28980506|ensembl:ENSP00000489124 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011540628.1|refseq:NP_001258931.1|refseq:NP_212132.2|ensembl:ENST00000251157|ensembl:ENSP00000251157|ensembl:ENST00000340370|ensembl:ENSP00000340742|ensembl:ENST00000404627|ensembl:ENSP00000384446|ensembl:ENST00000454575|ensembl:ENSP00000413583|ensembl:ENST00000634264|ensembl:ENSP00000489284|ensembl:ENST00000635123|ensembl:ENSP00000489499|ensembl:ENSP00000489124|refseq:NP_001258928.1|refseq:NP_001258929.1|refseq:NP_001258930.1|refseq:NP_001317543.1|ensembl:ENSG00000116641(gene)|ensembl:ENST00000635253(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005925"(focal adhesion)|go:"GO:0007264"(small GTPase mediated signal transduction)|go:"GO:0007409"(axonogenesis)|go:"GO:0022027"(interkinetic nuclear migration)|go:"GO:0030424"(axon)|go:"GO:0030426"(growth cone)|go:"GO:0031175"(neuron projection development)|go:"GO:0031267"(small GTPase binding)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0043005"(neuron projection)|go:"GO:0045178"(basal part of cell)|go:"GO:0045200"(establishment of neuroblast polarity)|go:"GO:0050767"(regulation of neurogenesis)|go:"GO:0090630"(activation of GTPase activity)|go:"GO:0120163"(negative regulation of cold-induced thermogenesis)|go:"GO:1904754"(positive regulation of vascular associated smooth muscle cell migration)|interpro:IPR010703(Dedicator of cytokinesis)|interpro:IPR021816|interpro:IPR026791|interpro:IPR027007|interpro:IPR027357|interpro:IPR035892|interpro:IPR037808|interpro:IPR043161|interpro:IPR043162|mint:Q96N67|rcsb pdb:6AJ4|rcsb pdb:6AJL|reactome:R-HSA-8875555|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-983231 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NYF8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-437804|ensembl:ENSP00000435210|uniprotkb:Q86WY0|uniprotkb:Q14673|uniprotkb:Q86WU6|uniprotkb:B7ZM58|uniprotkb:A2RU75|uniprotkb:E1P586 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:bclf1_human(display_long)|uniprotkb:BCLAF1 and THRAP3 family member 1(gene name synonym)|uniprotkb:BCLAF1(gene name)|psi-mi:BCLAF1(display_short)|uniprotkb:BTF(gene name synonym)|uniprotkb:KIAA0164(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000029363(gene)|ensembl:ENST00000531224(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003712"(transcription coregulator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0006915"(apoptotic process)|go:"GO:0016592"(mediator complex)|go:"GO:0016607"(nuclear speck)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043620"(regulation of DNA-templated transcription in response to stress)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:2000144"(positive regulation of DNA-templated transcription, initiation)|go:"GO:2001022"(positive regulation of response to DNA damage stimulus)|go:"GO:2001244"(positive regulation of intrinsic apoptotic signaling pathway)|interpro:IPR026668|interpro:IPR029199|mint:Q9NYF8|refseq:NP_001070908.1|refseq:NP_001070909.1|refseq:NP_055554.1|refseq:NP_001287967.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:v6qbjyjKVCv0B/olkjQfTPKWqBw9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PPJ0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10177154|ensembl:ENSP00000432655 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9ppj0_human(display_long)|uniprotkb:SF3B2(gene name)|psi-mi:SF3B2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000087365(gene)|ensembl:ENST00000528302(transcript)|go:"GO:0016607"(nuclear speck)|interpro:IPR003034(DNA-binding SAP)|interpro:IPR006568(PSP, proline-rich)|interpro:IPR007180(Protein of unknown function DUF382) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nkmgro5nnggAfRRO7SlKnRxSMsU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0R0K9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046305|ensembl:ENSP00000471303 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0r0k9_human(display_long)|uniprotkb:TRIM28(gene name)|psi-mi:TRIM28(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000130726(gene)|ensembl:ENST00000597136(transcript)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0046872"(metal ion binding)|interpro:IPR001487(Bromodomain)|interpro:IPR001965(Zinc finger, PHD-type)|interpro:IPR011011(Zinc finger, FYVE/PHD-type)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR019786|interpro:IPR019787|interpro:IPR036427|interpro:IPR037373 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HQxN0/O6+t1WruhFhwdAIM3dXgo9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0QX76 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046291|ensembl:ENSP00000468957 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0qx76_human(display_long)|uniprotkb:RPS16(gene name)|psi-mi:RPS16(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000105193(gene)|ensembl:ENST00000602153(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR000754(Ribosomal protein S9)|interpro:IPR014721(Ribosomal protein S5 domain 2-type fold)|interpro:IPR020568|interpro:IPR020574 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VYLrvtPzk1qaY/ZLArq4gUneOzM9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96EK4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1790529|uniprotkb:O94795|uniprotkb:A8K002|uniprotkb:A4UCT5|ensembl:ENSP00000304689 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tha11_human(display_long)|uniprotkb:THAP11(gene name)|psi-mi:THAP11(display_short)|uniprotkb:HRIHFB2206(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_065190.2|dip:DIP-46732N|ensembl:ENSP00000304689|ensembl:ENSG00000168286(gene)|ensembl:ENST00000303596(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003677"(DNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0008270"(zinc ion binding)|interpro:IPR006612(Zinc finger, C2CH-type)|rcsb pdb:2LAU|rcsb pdb:5AJS intact:EBI-27047305(see-also) - crc64:25235D20CB54D8C2 figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qzl6RN2xlTuDBruwyKLyDTNRCKE9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PDF6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25617580|ensembl:ENSP00000376130 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pdf6_human(display_long)|uniprotkb:MYO1B(gene name)|psi-mi:MYO1B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0016459"(myosin complex)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR010926(Myosin tail 2)|interpro:IPR027417|interpro:IPR036072|interpro:IPR036961|ensembl:ENSG00000128641(gene)|ensembl:ENST00000392316(transcript)|refseq:NP_001317166.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:9JCFYwbtYfIBwmEYVxkysQQZJ1E9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62316 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-297993|uniprotkb:P43330|ensembl:ENSP00000342374|ensembl:ENSP00000465216|uniprotkb:A8K797|uniprotkb:J3KPM5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:smd2_human(display_long)|uniprotkb:SNRPD2(gene name)|psi-mi:SNRPD2(display_short)|uniprotkb:snRNP core protein D2(gene name synonym)|uniprotkb:SNRPD1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000125743(gene)|ensembl:ENST00000342669(transcript)|ensembl:ENST00000588301(transcript)|go:"GO:0000245"(spliceosomal complex assembly)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005682"(U5 snRNP)|go:"GO:0005685"(U1 snRNP)|go:"GO:0005686"(U2 snRNP)|go:"GO:0005687"(U4 snRNP)|go:"GO:0005689"(U12-type spliceosomal complex)|go:"GO:0005829"(cytosol)|go:"GO:0008380"(RNA splicing)|go:"GO:0030532"(small nuclear ribonucleoprotein complex)|go:"GO:0034709"(methylosome)|go:"GO:0034715"(pICln-Sm protein complex)|go:"GO:0034719"(SMN-Sm protein complex)|go:"GO:0046540"(U4/U6 x U5 tri-snRNP complex)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071005"(U2-type precatalytic spliceosome)|go:"GO:0071007"(U2-type catalytic step 2 spliceosome)|go:"GO:0071011"(precatalytic spliceosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1990446"(U1 snRNP binding)|interpro:IPR001163(Like-Sm ribonucleoprotein, core)|interpro:IPR010920(Like-Sm ribonucleoprotein-related, core)|interpro:IPR027248|mint:P62316|rcsb pdb:1B34|rcsb pdb:3CW1|rcsb pdb:3JCR|rcsb pdb:3PGW|rcsb pdb:4F7U|rcsb pdb:4PJO|rcsb pdb:4V98|rcsb pdb:4WZJ|rcsb pdb:5MQF|rcsb pdb:5O9Z|rcsb pdb:5XJC|rcsb pdb:5XJL|rcsb pdb:5XJQ|rcsb pdb:5XJR|rcsb pdb:5XJS|rcsb pdb:5XJT|rcsb pdb:5XJU|rcsb pdb:5YZG|rcsb pdb:5Z56|rcsb pdb:5Z57|rcsb pdb:5Z58|rcsb pdb:6AH0|rcsb pdb:6AHD|rcsb pdb:6FF7|rcsb pdb:6ICZ|rcsb pdb:6ID0|rcsb pdb:6ID1|rcsb pdb:6QDV|rcsb pdb:6QW6|rcsb pdb:6QX9|rcsb pdb:6Y53|rcsb pdb:6Y5Q|rcsb pdb:7A5P|rcsb pdb:7ABG|rcsb pdb:7ABI|rcsb pdb:7B0Y|rcsb pdb:7DVQ|reactome:R-HSA-191859|reactome:R-HSA-72163|reactome:R-HSA-72165|refseq:NP_004588.1|refseq:NP_808210.2|dip:DIP-31219N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4OshNPT6N4dOcWMVXrF5Fm8dcnI9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15393 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-346977|uniprotkb:Q6NTI8|uniprotkb:Q96GC0|uniprotkb:Q9BPY2|uniprotkb:Q9UFX7|uniprotkb:Q9UJ29|ensembl:ENSP00000305790 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sf3b3_human(display_long)|uniprotkb:SF3B3(gene name)|psi-mi:SF3B3(display_short)|uniprotkb:KIAA0017(gene name synonym)|uniprotkb:SAP130(gene name synonym)|uniprotkb:Spliceosome-associated protein 130(gene name synonym)|uniprotkb:Pre-mRNA-splicing factor SF3b 130 kDa subunit(gene name synonym)|uniprotkb:STAF130(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036558.3|dip:DIP-28152N|ensembl:ENSG00000189091(gene)|ensembl:ENST00000302516(transcript)|go:"GO:0000375"(RNA splicing, via transesterification reactions)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0005634"(nucleus)|rcsb pdb:5O9Z|go:"GO:0005654"(nucleoplasm)|go:"GO:0005686"(U2 snRNP)|go:"GO:0005689"(U12-type spliceosomal complex)|rcsb pdb:5Z56|rcsb pdb:5Z57|rcsb pdb:5Z58|go:"GO:0005730"(nucleolus)|go:"GO:0008380"(RNA splicing)|rcsb pdb:5ZYA|rcsb pdb:6AH0|go:"GO:0030620"(U2 snRNA binding)|rcsb pdb:6AHD|rcsb pdb:6EN4|rcsb pdb:6FF4|rcsb pdb:6FF7|rcsb pdb:6QX9|rcsb pdb:6Y50|rcsb pdb:6Y5Q|rcsb pdb:7ABG|rcsb pdb:7ABH|rcsb pdb:7ABI|rcsb pdb:7DVQ|reactome:R-HSA-72163|reactome:R-HSA-72165|go:"GO:0042177"(negative regulation of protein catabolic process)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0071005"(U2-type precatalytic spliceosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|interpro:IPR004871(Cleavage and polyadenylation specificity factor, A subunit, C-terminal)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR018846|interpro:IPR036322|mint:Q15393|rcsb pdb:5IFE intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:gnCSXjZ/bwNXair6kyQUKoKIwbM9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35908 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1247312|uniprotkb:Q4VAQ2|ensembl:ENSP00000310861 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k22e_human(display_long)|uniprotkb:KRT2(gene name)|psi-mi:KRT2(display_short)|uniprotkb:KRT2A(gene name synonym)|uniprotkb:KRT2E(gene name synonym)|uniprotkb:Cytokeratin-2e(gene name synonym)|uniprotkb:Keratin-2e(gene name synonym)|uniprotkb:Type-II keratin Kb2(gene name synonym)|uniprotkb:Keratin-2 epidermis(gene name synonym)|uniprotkb:Epithelial keratin-2e(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000414.2|ensembl:ENSG00000172867(gene)|ensembl:ENST00000309680(transcript)|go:"GO:0001533"(cornified envelope)|go:"GO:0003334"(keratinocyte development)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005882"(intermediate filament)|go:"GO:0008092"(cytoskeletal protein binding)|go:"GO:0008544"(epidermis development)|go:"GO:0016020"(membrane)|go:"GO:0018149"(peptide cross-linking)|go:"GO:0030280"(structural constituent of skin epidermis)|go:"GO:0031424"(keratinization)|go:"GO:0032980"(keratinocyte activation)|go:"GO:0043616"(keratinocyte proliferation)|go:"GO:0045095"(keratin filament)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045684"(positive regulation of epidermis development)|go:"GO:0070062"(extracellular exosome)|interpro:IPR003054(Type II keratin)|interpro:IPR018039|interpro:IPR032444|interpro:IPR039008|mint:P35908|reactome:R-HSA-6805567|reactome:R-HSA-6809371|go:"GO:0051546"(keratinocyte migration) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:T7LeB8nkZzNjUb8DWdkxbrl5f789606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y4R1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26955493|ensembl:ENSP00000393525 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y4r1_human(display_long)|uniprotkb:IMPDH2(gene name)|psi-mi:IMPDH2(display_short)|uniprotkb:IMPDH(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000178035(gene)|ensembl:ENST00000429182(transcript)|go:"GO:0000166"(nucleotide binding)|go:"GO:0003938"(IMP dehydrogenase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0006177"(GMP biosynthetic process)|go:"GO:0046872"(metal ion binding)|interpro:IPR000644(Cystathionine beta-synthase, core)|interpro:IPR001093(IMP dehydrogenase/GMP reductase)|interpro:IPR005990(IMP dehydrogenase)|interpro:IPR013785(Aldolase-type TIM barrel)|interpro:IPR015875(IMP dehydrogenase / GMP reductase, conserved site) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZDwFczZqUK/eoOb6Uq21VFk0TbE9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q99873 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-78738|intact:EBI-949313|uniprotkb:A0A087X1W2|uniprotkb:H7C2I1|uniprotkb:Q15529|uniprotkb:Q99872|uniprotkb:Q99874|uniprotkb:Q9NZ04|uniprotkb:Q9NZ05|uniprotkb:Q9NZ06|ensembl:ENSP00000406162|intact:EBI-2622582|uniprotkb:B4E3C3|uniprotkb:G5E9B6|uniprotkb:Q8WUW5|uniprotkb:Q2VP93|uniprotkb:Q6LEU5|intact:EBI-11034520|intact:EBI-6137914 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:anm1_human(display_long)|uniprotkb:PRMT1(gene name)|psi-mi:PRMT1(display_short)|uniprotkb:Interferon receptor 1-bound protein 4(gene name synonym)|uniprotkb:Histone-arginine N-methyltransferase PRMT1(gene name synonym)|uniprotkb:HMT2(gene name synonym)|uniprotkb:HRMT1L2(gene name synonym)|uniprotkb:IR1B4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000126457(gene)|ensembl:ENST00000454376(transcript)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006479"(protein methylation)|go:"GO:0007166"(cell surface receptor signaling pathway)|go:"GO:0008168"(methyltransferase activity)|go:"GO:0008170"(N-methyltransferase activity)|go:"GO:0008276"(protein methyltransferase activity)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008327"(methyl-CpG binding)|go:"GO:0008380"(RNA splicing)|go:"GO:0016274"(protein-arginine N-methyltransferase activity)|go:"GO:0016571"(histone methylation)|go:"GO:0018216"(peptidyl-arginine methylation)|go:"GO:0019899"(enzyme binding)|go:"GO:0031175"(neuron projection development)|go:"GO:0034709"(methylosome)|go:"GO:0035241"(protein-arginine omega-N monomethyltransferase activity)|go:"GO:0035242"(protein-arginine omega-N asymmetric methyltransferase activity)|go:"GO:0042054"(histone methyltransferase activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043985"(histone H4-R3 methylation)|go:"GO:0044020"("histone methyltransferase activity (H4-R3 specific)")|go:"GO:0045648"(positive regulation of erythrocyte differentiation)|go:"GO:0045652"(regulation of megakaryocyte differentiation)|go:"GO:0045653"(negative regulation of megakaryocyte differentiation)|go:"GO:0046985"(positive regulation of hemoglobin biosynthetic process)|go:"GO:0048273"(mitogen-activated protein kinase p38 binding)|go:"GO:0048738"(cardiac muscle tissue development)|go:"GO:0051260"(protein homooligomerization)|go:"GO:1900745"(positive regulation of p38MAPK cascade)|go:"GO:1904047"(S-adenosyl-L-methionine binding)|interpro:IPR025799|interpro:IPR029063|interpro:IPR041698|mint:Q99873|rcsb pdb:6NT2|reactome:R-HSA-3214858|reactome:R-HSA-6804114|reactome:R-HSA-8936459|reactome:R-HSA-9009391|reactome:R-HSA-9018519|refseq:NP_001527.3|refseq:NP_938074.2|refseq:XP_016882223.1|refseq:XP_016882224.1|refseq:NP_001193971.1|dip:DIP-30878N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8I7isKQC9YJTBzPz1Qve4V8l8Xg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62280 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1047710|uniprotkb:B2R4F5|uniprotkb:P04643|uniprotkb:Q498Y6|uniprotkb:Q6IRY0|ensembl:ENSP00000270625 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs11_human(display_long)|uniprotkb:RPS11(gene name)|psi-mi:RPS11(display_short)|uniprotkb:Small ribosomal subunit protein uS17(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001006.1|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000266(Ribosomal protein S17)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR019979|interpro:IPR028333|interpro:IPR032440|mint:P62280|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|go:"GO:0005840"(ribosome)|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|ensembl:ENSG00000142534(gene)|ensembl:ENST00000270625(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|rcsb pdb:6OM0|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0fqJjtWAuz31VTKt2mbteRoi8vA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E5RI99 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11602717|ensembl:ENSP00000429483 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e5ri99_human(display_long)|uniprotkb:RPL30(gene name)|psi-mi:RPL30(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000156482(gene)|ensembl:ENST00000521726(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0022625"(cytosolic large ribosomal subunit)|interpro:IPR000231(Ribosomal protein L30e)|interpro:IPR004038(Ribosomal protein L7Ae/L30e/S12e/Gadd45)|interpro:IPR022991|interpro:IPR029064|interpro:IPR039109 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/XtNkobILICE8La679+Vydnf6cs9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46778 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350634|uniprotkb:Q16699|ensembl:ENSP00000346027|ensembl:ENSP00000351021|ensembl:ENSP00000370569|ensembl:ENSP00000370574 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl21_human(display_long)|uniprotkb:RPL21(gene name)|psi-mi:RPL21(display_short)|uniprotkb:Large ribosomal subunit protein eL21(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:6LU8|refseq:NP_000973.2|ensembl:ENSG00000122026(gene)|ensembl:ENST00000272274(transcript)|ensembl:ENST00000311549(transcript)|ensembl:ENST00000319826(transcript)|ensembl:ENST00000326092(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|interpro:IPR001147(Ribosomal protein L21e)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR018259|interpro:IPR036948|mint:P46778|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6OLE|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:UCth+WL9Oj1Y9I5m4i/9X0a5WHk9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UMS4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-395746|ensembl:ENSP00000227524 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:prp19_human(display_long)|uniprotkb:PRPF19(gene name)|psi-mi:PRPF19(display_short)|uniprotkb:PRP19/PSO4 homolog(gene name synonym)|uniprotkb:Nuclear matrix protein 200(gene name synonym)|uniprotkb:Senescence evasion factor(gene name synonym)|uniprotkb:NMP200(gene name synonym)|uniprotkb:PRP19(gene name synonym)|uniprotkb:SNEV(gene name synonym)|uniprotkb:RING-type E3 ubiquitin transferase PRP19(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000110107(gene)|ensembl:ENST00000227524(transcript)|go:"GO:0000077"(DNA damage checkpoint signaling)|go:"GO:0000209"(protein polyubiquitination)|go:"GO:0000244"(spliceosomal tri-snRNP complex assembly)|go:"GO:0000245"(spliceosomal complex assembly)|go:"GO:0000349"(generation of catalytic spliceosome for first transesterification step)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0000974"(Prp19 complex)|go:"GO:0004842"(ubiquitin-protein transferase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005811"(lipid droplet)|go:"GO:0005819"(spindle)|go:"GO:0006303"(double-strand break repair via nonhomologous end joining)|refseq:NP_055317.1|go:"GO:0008610"(lipid biosynthetic process)|go:"GO:0010498"(proteasomal protein catabolic process)|go:"GO:0016020"(membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0034450"(ubiquitin-ubiquitin ligase activity)|go:"GO:0034613"(cellular protein localization)|go:"GO:0035861"(site of double-strand break)|go:"GO:0042802"(identical protein binding)|go:"GO:0045666"(positive regulation of neuron differentiation)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048711"(positive regulation of astrocyte differentiation)|go:"GO:0061630"(ubiquitin protein ligase activity)|go:"GO:0070534"(protein K63-linked ubiquitination)|go:"GO:0071006"(U2-type catalytic step 1 spliceosome)|go:"GO:0071007"(U2-type catalytic step 2 spliceosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|interpro:IPR000772(Ricin B lectin)|interpro:IPR001680(WD40 repeat)|interpro:IPR003613(U box)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR013915(Pre-mRNA-splicing factor 19)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR020472|interpro:IPR036322|interpro:IPR038959|mint:Q9UMS4|rcsb pdb:4LG8|rcsb pdb:5MQF|rcsb pdb:5XJC|rcsb pdb:5YZG|rcsb pdb:5Z56|rcsb pdb:5Z57|rcsb pdb:6FF7|rcsb pdb:6ICZ|rcsb pdb:6ID0|rcsb pdb:6ID1|rcsb pdb:6QDV|rcsb pdb:7A5P|reactome:R-HSA-6781823|reactome:R-HSA-6781827|reactome:R-HSA-6782135|reactome:R-HSA-6782210|reactome:R-HSA-72163|dip:DIP-32978N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5TseaFcCOVVWjJeMF/H7k29nd3c9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q7Z353 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1052734|uniprotkb:Q5JZB4|uniprotkb:Q96NK7|uniprotkb:A8K1Y5|uniprotkb:B7ZL18|ensembl:ENSP00000297977|ensembl:ENSP00000362272 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hdx_human(display_long)|uniprotkb:HDX(gene name)|psi-mi:HDX(display_short)|uniprotkb:CXorf43(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001170949.1|refseq:NP_001170950.1|refseq:NP_653258.2|refseq:XP_011529165.1|refseq:XP_011529166.1|refseq:XP_006724682.1|ensembl:ENSG00000165259(gene)|ensembl:ENST00000297977(transcript)|ensembl:ENST00000373177(transcript)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0005634"(nucleus)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|interpro:IPR001356(Homeobox)|interpro:IPR009057(Homeodomain-like)|rcsb pdb:2DA4|refseq:XP_016884763.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nhMJWu8xnF2FDhtzcHcpjLftNjE9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6NZI2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2559016|uniprotkb:O00535|uniprotkb:Q96H74|uniprotkb:Q6GMY1|uniprotkb:B2RAW7|uniprotkb:Q9BT85|uniprotkb:Q9HAP4|ensembl:ENSP00000349541 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cavn1_human(display_long)|uniprotkb:CAVIN1(gene name)|psi-mi:CAVIN1(display_short)|uniprotkb:Cavin-1(gene name synonym)|uniprotkb:PTRF(gene name synonym)|uniprotkb:Polymerase I and transcript release factor(gene name synonym)|uniprotkb:FKSG13(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036364.2|ensembl:ENSG00000177469(gene)|ensembl:ENST00000357037(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005901"(caveola)|go:"GO:0006361"(transcription initiation from RNA polymerase I promoter)|go:"GO:0006363"(termination of RNA polymerase I transcription)|go:"GO:0009303"(rRNA transcription)|go:"GO:0009306"(protein secretion)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042134"(rRNA primary transcript binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045121"(membrane raft)|go:"GO:2000147"(positive regulation of cell motility)|interpro:IPR026752|mint:Q6NZI2|reactome:R-HSA-73863|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|interpro:IPR033297|dip:DIP-48550N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:55dzpwSSfj8aEzmgHKYdrHfgYBg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8WVC2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10276945|ensembl:ENSP00000388332 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:q8wvc2_human(display_long)|uniprotkb:RPS21(gene name)|psi-mi:RPS21(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000171858(gene)|ensembl:ENST00000450116(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001931(Ribosomal protein S21e)|interpro:IPR018279|interpro:IPR038579 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7TrXVkTVYP1Z3LvgeEAQqa3nWow9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9JNW5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6190023|ensembl:ENSP00000420380 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9jnw5_human(display_long)|uniprotkb:RPL24(gene name)|psi-mi:RPL24(display_short)|uniprotkb:hCG_2023003(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000114391(gene)|ensembl:ENST00000469605(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|interpro:IPR000988(Ribosomal protein L24e)|interpro:IPR011017(TRASH)|interpro:IPR023442|interpro:IPR038630 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:OE53tm5RMpxZtGwHcVKogk9J89A9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y4I1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1054086|uniprotkb:O60653|uniprotkb:Q07902|uniprotkb:Q16249|uniprotkb:Q9UE30|uniprotkb:Q9UE31|uniprotkb:A8MZC5|ensembl:ENSP00000382177 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myo5a_human(display_long)|uniprotkb:Dilute myosin heavy chain, non-muscle(gene name synonym)|uniprotkb:Myosin heavy chain 12(gene name synonym)|uniprotkb:Myoxin(gene name synonym)|uniprotkb:MYO5A(gene name)|psi-mi:MYO5A(display_short)|uniprotkb:MYH12(gene name synonym)|uniprotkb:Myosin-12(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000250.3|refseq:XP_005254454.1|ensembl:ENSG00000197535(gene)|ensembl:ENST00000399231(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0001726"(ruffle)|go:"GO:0003723"(RNA binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006892"(post-Golgi vesicle-mediated transport)|go:"GO:0007015"(actin filament organization)|go:"GO:0015031"(protein transport)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0016459"(myosin complex)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030050"(vesicle transport along actin filament)|go:"GO:0030426"(growth cone)|go:"GO:0031267"(small GTPase binding)|go:"GO:0032402"(melanosome transport)|go:"GO:0032433"(filopodium tip)|go:"GO:0032593"(insulin-responsive compartment)|go:"GO:0032869"(cellular response to insulin stimulus)|go:"GO:0042470"(melanosome)|go:"GO:0043005"(neuron projection)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002710(Dilute)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR027417|interpro:IPR036103|interpro:IPR036961|interpro:IPR037988|mint:Q9Y4I1|rcsb pdb:4D07|rcsb pdb:4J5L|rcsb pdb:4LLI|rcsb pdb:4LX1|rcsb pdb:4LX2|rcsb pdb:5JCY|rcsb pdb:5JCZ|reactome:R-HSA-1445148|reactome:R-HSA-2029482|reactome:R-HSA-264876|reactome:R-HSA-9664422 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:z4bbPG/RrXSmBWT6I0nbIztGp809606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92786 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-3912635|uniprotkb:Q8TB91|uniprotkb:A6NK29|uniprotkb:Q5SW76|uniprotkb:A8K2B1|ensembl:ENSP00000261454|ensembl:ENSP00000355925|ensembl:ENSP00000400694|ensembl:ENSP00000420283 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:prox1_human(display_long)|uniprotkb:PROX1(gene name)|psi-mi:PROX1(display_short)|uniprotkb:Homeobox prospero-like protein PROX1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002754.2|refseq:NP_001257545.1|ensembl:ENSG00000117707(gene)|ensembl:ENST00000261454(transcript)|ensembl:ENST00000366958(transcript)|ensembl:ENST00000435016(transcript)|ensembl:ENST00000498508(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000976"(transcription cis-regulatory region binding)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0001709"(cell fate determination)|go:"GO:0001822"(kidney development)|go:"GO:0001889"(liver development)|go:"GO:0001938"(positive regulation of endothelial cell proliferation)|go:"GO:0001946"(lymphangiogenesis)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0002194"(hepatocyte cell migration)|go:"GO:0003677"(DNA binding)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007420"(brain development)|go:"GO:0007623"(circadian rhythm)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0010595"(positive regulation of endothelial cell migration)|go:"GO:0016922"(nuclear receptor binding)|go:"GO:0021516"(dorsal spinal cord development)|go:"GO:0021542"(dentate gyrus development)|go:"GO:0021707"(cerebellar granule cell differentiation)|go:"GO:0021915"(neural tube development)|go:"GO:0030240"(skeletal muscle thin filament assembly)|go:"GO:0030324"(lung development)|go:"GO:0030910"(olfactory placode formation)|go:"GO:0031016"(pancreas development)|go:"GO:0031667"(response to nutrient levels)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0043049"(otic placode formation)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0045071"(negative regulation of viral genome replication)|go:"GO:0045737"(positive regulation of cyclin-dependent protein serine/threonine kinase activity)|go:"GO:0045787"(positive regulation of cell cycle)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046619"(lens placode formation involved in camera-type eye formation)|go:"GO:0048845"(venous blood vessel morphogenesis)|go:"GO:0050692"(DNA binding domain binding)|go:"GO:0050693"(LBD domain binding)|go:"GO:0055005"(ventricular cardiac myofibril assembly)|go:"GO:0055009"(atrial cardiac muscle tissue morphogenesis)|go:"GO:0055010"(ventricular cardiac muscle tissue morphogenesis)|go:"GO:0060042"(retina morphogenesis in camera-type eye)|go:"GO:0060059"(embryonic retina morphogenesis in camera-type eye)|go:"GO:0060214"(endocardium formation)|go:"GO:0060298"(positive regulation of sarcomere organization)|go:"GO:0060412"(ventricular septum morphogenesis)|go:"GO:0060414"(aorta smooth muscle tissue morphogenesis)|go:"GO:0060421"(positive regulation of heart growth)|go:"GO:0060836"(lymphatic endothelial cell differentiation)|go:"GO:0060838"(lymphatic endothelial cell fate commitment)|go:"GO:0061114"(branching involved in pancreas morphogenesis)|go:"GO:0070309"(lens fiber cell morphogenesis)|go:"GO:0070365"(hepatocyte differentiation)|go:"GO:0070858"(negative regulation of bile acid biosynthetic process)|go:"GO:0072574"(hepatocyte proliferation)|go:"GO:0090425"(acinar cell differentiation)|go:"GO:0097150"(neuronal stem cell population maintenance)|go:"GO:1901978"(positive regulation of cell cycle checkpoint)|go:"GO:1990837"(sequence-specific double-stranded DNA binding)|go:"GO:2000179"(positive regulation of neural precursor cell proliferation)|go:"GO:2000979"(positive regulation of forebrain neuron differentiation)|interpro:IPR007738(Homeobox prospero-like)|interpro:IPR009057(Homeodomain-like)|interpro:IPR023082|interpro:IPR037131|interpro:IPR039350|mint:Q92786|rcsb pdb:2LMD|refseq:XP_016857322.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:80GpGEDggRkdm+tl6WhIz3FDfos9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:D6R938 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-20722987|ensembl:ENSP00000423677 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:d6r938_human(display_long)|uniprotkb:CAMK2D(gene name)|psi-mi:CAMK2D(display_short)|uniprotkb:hCG_22679(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000145349(gene)|ensembl:ENST00000514328(transcript)|go:"GO:0004683"(calmodulin-dependent protein kinase activity)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|interpro:IPR000719(Protein kinase, core)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR013543(Calcium/calmodulin dependent protein kinase II, association-domain)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR032710|refseq:NP_001308503.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:q1yS9I1HDEPTopAGWNwPHPPI7zA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UKV3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-396258|uniprotkb:O75158|uniprotkb:Q9UG91|uniprotkb:Q9UKV1|uniprotkb:Q9UKV2|uniprotkb:D3DS45|uniprotkb:B2RTT4|ensembl:ENSP00000262710 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:acinu_human(display_long)|uniprotkb:ACIN1(gene name)|psi-mi:ACIN1(display_short)|uniprotkb:ACINUS(gene name synonym)|uniprotkb:KIAA0670(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001158286.1|refseq:NP_001158287.1|refseq:NP_001158288.1|refseq:NP_001158289.1|refseq:NP_055792.1|refseq:XP_005267475.1|ensembl:ENSG00000100813(gene)|ensembl:ENST00000262710(transcript)|go:"GO:0003676"(nucleic acid binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006397"(mRNA processing)|go:"GO:0008380"(RNA splicing)|go:"GO:0016607"(nuclear speck)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0030263"(apoptotic chromosome condensation)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0045657"(positive regulation of monocyte differentiation)|go:"GO:0048025"(negative regulation of mRNA splicing, via spliceosome)|go:"GO:0061574"(ASAP complex)|interpro:IPR003034(DNA-binding SAP)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034257|interpro:IPR035979|interpro:IPR036361|mint:Q9UKV3|rcsb pdb:6G6S|reactome:R-HSA-111465|interpro:IPR032552|dip:DIP-32963N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dzHCIefdTYTGEk+qXNwlK2Phybw9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NYJ8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358708|uniprotkb:O94838|uniprotkb:Q6I9W8|uniprotkb:Q76N06|uniprotkb:Q9UFP7|uniprotkb:E1P5A0|uniprotkb:B2RCC4|ensembl:ENSP00000356426|ensembl:ENSP00000445752|ensembl:ENSP00000490618 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tab2_human(display_long)|uniprotkb:TAB2(gene name)|psi-mi:TAB2(display_short)|uniprotkb:KIAA0733(gene name synonym)|uniprotkb:MAP3K7IP2(gene name synonym)|uniprotkb:TAK1-binding protein 2(gene name synonym)|uniprotkb:Mitogen-activated protein kinase kinase kinase 7-interacting protein 2(gene name synonym)|uniprotkb:TGF-beta-activated kinase 1-binding protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_055908.1|refseq:NP_001278963.1|refseq:NP_001278964.1|refseq:XP_011533935.1|ensembl:ENST00000637181(transcript)|go:"GO:0000187"(obsolete activation of MAPK activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|ensembl:ENST00000538427(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0007507"(heart development)|go:"GO:0008270"(zinc ion binding)|go:"GO:0010008"(endosome membrane)|go:"GO:0010507"(negative regulation of autophagy)|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043130"(ubiquitin binding)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0070530"(K63-linked polyubiquitin modification-dependent protein binding)|interpro:IPR001876(Zinc finger, RanBP2-type)|interpro:IPR003892(Ubiquitin system component Cue)|interpro:IPR036443|interpro:IPR041911|mint:Q9NYJ8|rcsb pdb:2DAE|rcsb pdb:2WWZ|rcsb pdb:2WX0|rcsb pdb:2WX1|reactome:R-HSA-1251985|reactome:R-HSA-168638|reactome:R-HSA-202424|reactome:R-HSA-2871837|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5357956|reactome:R-HSA-5607764|reactome:R-HSA-9014325|reactome:R-HSA-9020702|reactome:R-HSA-937042|reactome:R-HSA-937072|reactome:R-HSA-9645460|reactome:R-HSA-975163|ensembl:ENST00000367456(transcript)|ensembl:ENSG00000055208(gene)|refseq:XP_016866080.1|refseq:XP_016866081.1|dip:DIP-27525N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:hMWL5GobXJSsm8ToWVBF/ZwPX3M9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14639 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-487024|uniprotkb:A6NI16|uniprotkb:Q5T6N3|uniprotkb:Q5JVV1|uniprotkb:Q15039|uniprotkb:Q68CQ9|uniprotkb:Q9BUP1|uniprotkb:Q5T6N5|uniprotkb:B3KVH2|uniprotkb:Q5T6N2|uniprotkb:A6NJ06|uniprotkb:A8MXA9|uniprotkb:Q5JVV2|ensembl:ENSP00000277895 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ablm1_human(display_long)|uniprotkb:Actin-binding LIM protein family member 1(gene name synonym)|uniprotkb:Actin-binding double zinc finger protein(gene name synonym)|uniprotkb:Limatin(gene name synonym)|uniprotkb:ABLIM1(gene name)|psi-mi:ABLIM1(display_short)|uniprotkb:ABLIM(gene name synonym)|uniprotkb:KIAA0059(gene name synonym)|uniprotkb:LIMAB1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001003407.1|refseq:NP_002304.3|refseq:NP_006711.3|ensembl:ENSG00000099204(gene)|ensembl:ENST00000277895(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0007010"(cytoskeleton organization)|go:"GO:0007601"(visual perception)|go:"GO:0009887"(animal organ morphogenesis)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0046872"(metal ion binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0060271"(cilium assembly)|interpro:IPR001781(Zinc finger, LIM-type)|interpro:IPR003128(Villin headpiece)|interpro:IPR028448|interpro:IPR032402|interpro:IPR036886|mint:O14639|reactome:R-HSA-418885|go:"GO:0030032"(lamellipodium assembly)|refseq:NP_001309811.1|refseq:NP_001309821.1|refseq:NP_001309822.1|refseq:NP_001309825.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Dsx3GrmdlsYUmQvuW59NfYF7MJg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H840 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-715455|uniprotkb:Q6IA34|ensembl:ENSP00000375813|ensembl:ENSP00000465704|ensembl:ENSP00000466342|ensembl:ENSP00000270257 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gemi7_human(display_long)|uniprotkb:SIP3(gene name synonym)|uniprotkb:GEMIN7(gene name)|psi-mi:GEMIN7(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_005259319.1|refseq:XP_005259320.1|refseq:NP_001007270.1|refseq:NP_001007271.1|refseq:NP_078983.1|ensembl:ENSG00000142252(gene)|ensembl:ENST00000270257(transcript)|ensembl:ENST00000391951(transcript)|ensembl:ENST00000591607(transcript)|ensembl:ENST00000591747(transcript)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0016604"(nuclear body)|go:"GO:0032797"(SMN complex)|go:"GO:0034719"(SMN-Sm protein complex)|go:"GO:0097504"(Gemini of coiled bodies)|go:"GO:0120114"(Sm-like protein family complex)|interpro:IPR020338|interpro:IPR024642|mint:Q9H840|rcsb pdb:1Y96|rcsb pdb:7BBL|reactome:R-HSA-191859|refseq:NP_001305983.1|refseq:NP_001305984.1|refseq:XP_016882801.1|dip:DIP-41750N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:jnNKbzuQxiIWKDmv7+je9B5U81Q9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P07355 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352622|uniprotkb:Q567R4|uniprotkb:Q96DD5|intact:EBI-2211824|uniprotkb:Q6N0B3|uniprotkb:Q8TBV2|uniprotkb:Q9UDH8|ensembl:ENSP00000379342|ensembl:ENSP00000387545|ensembl:ENSP00000411352|ensembl:ENSP00000452858|ensembl:ENSP00000452895|ensembl:ENSP00000452981|ensembl:ENSP00000453694|ensembl:ENSP00000453859|ensembl:ENSP00000503447|ensembl:ENSP00000503757|ensembl:ENSP00000503855|ensembl:ENSP00000504035|ensembl:ENSP00000504164 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:anxa2_human(display_long)|uniprotkb:ANXA2(gene name)|psi-mi:ANXA2(display_short)|uniprotkb:ANX2(gene name synonym)|uniprotkb:ANX2L4(gene name synonym)|uniprotkb:CAL1H(gene name synonym)|uniprotkb:LPC2D(gene name synonym)|uniprotkb:Annexin-2(gene name synonym)|uniprotkb:Annexin II(gene name synonym)|uniprotkb:Lipocortin II(gene name synonym)|uniprotkb:Calpactin I heavy chain(gene name synonym)|uniprotkb:Chromobindin-8(gene name synonym)|uniprotkb:p36(gene name synonym)|uniprotkb:Protein I(gene name synonym)|uniprotkb:Placental anticoagulant protein IV(gene name synonym)|uniprotkb:Calpactin-1 heavy chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001002857.1|refseq:NP_001002858.1|refseq:NP_001129487.1|refseq:NP_004030.1|refseq:XP_016877579.1|refseq:XP_016877580.1|ensembl:ENSG00000182718(gene)|ensembl:ENST00000396024(transcript)|ensembl:ENST00000421017(transcript)|ensembl:ENST00000451270(transcript)|ensembl:ENST00000557906(transcript)|ensembl:ENST00000558558(transcript)|ensembl:ENST00000559818(transcript)|ensembl:ENST00000559956(transcript)|ensembl:ENST00000560468(transcript)|ensembl:ENST00000677968(transcript)|ensembl:ENST00000678061(transcript)|ensembl:ENST00000678450(transcript)|ensembl:ENST00000678870(transcript)|ensembl:ENST00000679109(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001726"(ruffle)|go:"GO:0001765"(membrane raft assembly)|go:"GO:0001786"(phosphatidylserine binding)|go:"GO:0001921"(positive regulation of receptor recycling)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0002020"(protease binding)|go:"GO:0003723"(RNA binding)|go:"GO:0004867"(serine-type endopeptidase inhibitor activity)|go:"GO:0005262"(calcium channel activity)|go:"GO:0005544"(calcium-dependent phospholipid binding)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005604"(basement membrane)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005938"(cell cortex)|go:"GO:0006900"(vesicle budding from membrane)|go:"GO:0007589"(body fluid secretion)|go:"GO:0008092"(cytoskeletal protein binding)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019834"(phospholipase A2 inhibitor activity)|go:"GO:0019897"(extrinsic component of plasma membrane)|go:"GO:0030199"(collagen fibril organization)|go:"GO:0030496"(midbody)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031340"(positive regulation of vesicle fusion)|go:"GO:0031902"(late endosome membrane)|go:"GO:0031982"(vesicle)|go:"GO:0032804"(negative regulation of low-density lipoprotein particle receptor catabolic process)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0035749"(myelin sheath adaxonal region)|go:"GO:0036035"(osteoclast development)|go:"GO:0042383"(sarcolemma)|go:"GO:0042470"(melanosome)|go:"GO:0042730"(fibrinolysis)|go:"GO:0042802"(identical protein binding)|go:"GO:0043220"(Schmidt-Lanterman incisure)|go:"GO:0044090"(positive regulation of vacuole organization)|go:"GO:0044354"(macropinosome)|go:"GO:0044548"(S100 protein binding)|go:"GO:0044730"(bone sialoprotein binding)|go:"GO:0045121"(membrane raft)|go:"GO:0046790"(virion binding)|go:"GO:0048146"(positive regulation of fibroblast proliferation)|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0005509"(calcium ion binding)|rcsb pdb:2HYU|rcsb pdb:2HYV|rcsb pdb:2HYW|rcsb pdb:4DRW|rcsb pdb:4FTG|rcsb pdb:4HRH|rcsb pdb:5LPU|rcsb pdb:5LPX|rcsb pdb:5LQ0|rcsb pdb:5LQ2|rcsb pdb:5N7D|rcsb pdb:5N7F|rcsb pdb:5N7G|rcsb pdb:6TWQ|rcsb pdb:6TWU|rcsb pdb:6TWX|rcsb pdb:6TWY|reactome:R-HSA-445355|reactome:R-HSA-6798695|reactome:R-HSA-75205|reactome:R-HSA-8950505|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|go:"GO:1905581"(positive regulation of low-density lipoprotein particle clearance)|go:"GO:1905597"(positive regulation of low-density lipoprotein particle receptor binding)|go:"GO:1905599"(positive regulation of low-density lipoprotein receptor activity)|go:"GO:1905602"(positive regulation of receptor-mediated endocytosis involved in cholesterol transport)|go:"GO:1990665"(AnxA2-p11 complex)|go:"GO:1990667"(PCSK9-AnxA2 complex)|interpro:IPR001464(Annexin)|interpro:IPR002389(Annexin, type II)|interpro:IPR018252|interpro:IPR018502|interpro:IPR037104|mint:P07355|rcsb pdb:1W7B|rcsb pdb:1XJL|go:"GO:0097066"(response to thyroid hormone) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:jcB4Dt0LFv8YaBUnC2BSTCshveg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PGC8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046274|ensembl:ENSP00000371462 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pgc8_human(display_long)|uniprotkb:MAP1A(gene name)|psi-mi:MAP1A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000166963(gene)|ensembl:ENST00000382031(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0005874"(microtubule)|go:"GO:0008017"(microtubule binding)|interpro:IPR015656(MAP1A)|interpro:IPR026074|interpro:IPR036866|refseq:XP_016877678.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:9yMSpoZeYrmCTtrGOsJw5M+od2k9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:K7EK43 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-12577238|ensembl:ENSP00000465448 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k7ek43_human(display_long)|uniprotkb:TUBB6(gene name)|psi-mi:TUBB6(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000176014(gene)|ensembl:ENST00000586691(transcript)|go:"GO:0005525"(GTP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0007017"(microtubule-based process)|interpro:IPR000217(Tubulin)|interpro:IPR036525 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qvq7HtOGUrbMUojsI8tCIDahutA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KT29 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046261|ensembl:ENSP00000462773 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3kt29_human(display_long)|uniprotkb:RPL23(gene name)|psi-mi:RPL23(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000125691(gene)|ensembl:ENST00000577407(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR000218(Ribosomal protein L14b/L23e)|interpro:IPR019972|interpro:IPR036853 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4EGiT0FnfGXs2kD/VxQYL7+8GNY9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UHF7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2556151|uniprotkb:Q9UHH6|uniprotkb:Q9NWE1|uniprotkb:Q08AU2|uniprotkb:B4E1Z5|ensembl:ENSP00000220888|ensembl:ENSP00000492037 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:trps1_human(display_long)|uniprotkb:Tricho-rhino-phalangeal syndrome type I protein(gene name synonym)|uniprotkb:Zinc finger protein GC79(gene name synonym)|uniprotkb:TRPS1(gene name)|psi-mi:TRPS1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_054831.2|refseq:NP_001269831.1|refseq:XP_011515566.1|refseq:XP_011515568.1|refseq:XP_011515570.1|refseq:NP_001269832.1|refseq:XP_006716688.1|refseq:NP_001317528.1|ensembl:ENSG00000104447(gene)|ensembl:ENST00000220888(transcript)|ensembl:ENST00000640765(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0001501"(skeletal system development)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0008270"(zinc ion binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0032330"(regulation of chondrocyte differentiation)|go:"GO:0032991"(protein-containing complex)|interpro:IPR000679(Zinc finger, GATA-type)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR013088(Zinc finger, NHR/GATA-type)|interpro:IPR028440|interpro:IPR036236 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:M9Qu8GLaQiBGt4rWs+NuYJas8fs9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04264 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-298429|uniprotkb:Q14720|uniprotkb:Q6GSJ0|uniprotkb:B2RA01|uniprotkb:Q9H298|ensembl:ENSP00000252244|uniprotkb:P85925|uniprotkb:P86104 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k2c1_human(display_long)|uniprotkb:KRT1(gene name)|psi-mi:KRT1(display_short)|uniprotkb:KRTA(gene name synonym)|uniprotkb:Keratin-1(gene name synonym)|uniprotkb:Cytokeratin-1(gene name synonym)|uniprotkb:67 kDa cytokeratin(gene name synonym)|uniprotkb:Hair alpha protein(gene name synonym)|uniprotkb:Type-II keratin Kb1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006112.3|ensembl:ENSG00000167768(gene)|ensembl:ENST00000252244(transcript)|go:"GO:0001533"(cornified envelope)|go:"GO:0001867"(complement activation, lectin pathway)|go:"GO:0001895"(retina homeostasis)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0006979"(response to oxidative stress)|go:"GO:0016020"(membrane)|go:"GO:0018149"(peptide cross-linking)|go:"GO:0030246"(carbohydrate binding)|go:"GO:0030280"(structural constituent of skin epidermis)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042730"(fibrinolysis)|go:"GO:0045095"(keratin filament)|go:"GO:0045765"(regulation of angiogenesis)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0050728"(negative regulation of inflammatory response)|go:"GO:0051290"(protein heterotetramerization)|go:"GO:0061436"(establishment of skin barrier)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR003054(Type II keratin)|interpro:IPR018039|interpro:IPR032444|interpro:IPR032449|interpro:IPR039008|mint:P04264|rcsb pdb:4ZRY|rcsb pdb:6E2J|rcsb pdb:6UUI|reactome:R-HSA-6798695|reactome:R-HSA-6805567|reactome:R-HSA-6809371 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:TeAC3i2hWTS2lgXT0i4agp9nv349606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y2W1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352039|uniprotkb:Q5VTK6|uniprotkb:D3DPS5|ensembl:ENSP00000346634|ensembl:ENSP00000433825 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tr150_human(display_long)|uniprotkb:BCLAF1 and THRAP3 family member 2(gene name synonym)|uniprotkb:BCLAF2(gene name synonym)|uniprotkb:THRAP3(gene name)|psi-mi:THRAP3(display_short)|uniprotkb:TRAP150(gene name synonym)|uniprotkb:Thyroid hormone receptor-associated protein complex 150 kDa component(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005110.2|ensembl:ENSG00000054118(gene)|ensembl:ENST00000354618(transcript)|ensembl:ENST00000469141(transcript)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000956"(nuclear-transcribed mRNA catabolic process)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0003677"(DNA binding)|go:"GO:0003712"(transcription coregulator activity)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006397"(mRNA processing)|go:"GO:0007623"(circadian rhythm)|go:"GO:0008380"(RNA splicing)|go:"GO:0016592"(mediator complex)|go:"GO:0016607"(nuclear speck)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0042753"(positive regulation of circadian rhythm)|go:"GO:0042809"(vitamin D receptor binding)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046966"(thyroid hormone receptor binding)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048255"(mRNA stabilization)|go:"GO:0051219"(phosphoprotein binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR026667|interpro:IPR029199|mint:Q9Y2W1|reactome:R-HSA-1989781|reactome:R-HSA-381340|refseq:NP_001308400.1|refseq:NP_001308402.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:pPyZVG1IXg/+QDpHngwzUX09cBM9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F5H527 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043824|ensembl:ENSP00000444743 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f5h527_human(display_long)|uniprotkb:SSH2(gene name)|psi-mi:SSH2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000141298(gene)|ensembl:ENST00000540801(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0004725"(protein tyrosine phosphatase activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0008138"(protein tyrosine/serine/threonine phosphatase activity)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030837"(negative regulation of actin filament polymerization)|go:"GO:0106306"|go:"GO:0106307"|interpro:IPR000340(Protein-tyrosine phosphatase, dual specificity)|interpro:IPR000387(Protein-tyrosine phosphatase)|interpro:IPR014876(DEK C terminal)|interpro:IPR016130(Protein-tyrosine phosphatase, active site)|interpro:IPR020422|interpro:IPR029021|interpro:IPR043587|interpro:IPR043588|refseq:NP_001269058.1|refseq:XP_005258115.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qv9sogSADxE6dsjk4IkcV67fYks9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:G5EA29 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046253|ensembl:ENSP00000436854 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:g5ea29_human(display_long)|uniprotkb:GEMIN2(gene name)|psi-mi:GEMIN2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000092208(gene)|ensembl:ENST00000525153(transcript)|interpro:IPR035426 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:U2guaczBdv8fWAQEgZK87g7bQuw9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F6SS63 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046242|ensembl:ENSP00000433193 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f6ss63_human(display_long)|uniprotkb:TAB3(gene name)|psi-mi:TAB3(display_short)|uniprotkb:hCG_1644389(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000157625(gene)|ensembl:ENST00000467136(transcript)|go:"GO:0043130"(ubiquitin binding)|interpro:IPR003892(Ubiquitin system component Cue)|interpro:IPR041911 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:gRZfuM8ibWzXe97tTTd8YDLG8cA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:D6RAT0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26961837|ensembl:ENSP00000421770|ensembl:ENSP00000426282 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:d6rat0_human(display_long)|uniprotkb:RPS3A(gene name)|psi-mi:RPS3A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000145425(gene)|ensembl:ENST00000506126(transcript)|ensembl:ENST00000514682(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030154"(cell differentiation)|interpro:IPR001593(Ribosomal protein S3Ae)|interpro:IPR018281|interpro:IPR027500 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nmsVY7SxpguJwfV0VSemxZrZhY89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9HAZ2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2795620|uniprotkb:A6NHQ8|uniprotkb:B1AJP7|uniprotkb:B1AJP8|uniprotkb:B1AJP9|uniprotkb:B1WB48|uniprotkb:Q8WYJ9|uniprotkb:Q9C0I8|ensembl:ENSP00000270722 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:prd16_human(display_long)|uniprotkb:PRDM16(gene name)|psi-mi:PRDM16(display_short)|uniprotkb:KIAA1675(gene name synonym)|uniprotkb:MEL1(gene name synonym)|uniprotkb:PFM13(gene name synonym)|uniprotkb:PR domain-containing protein 16(gene name synonym)|uniprotkb:Transcription factor MEL1(gene name synonym)|uniprotkb:PR domain zinc finger protein 16(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011540247.1|refseq:NP_071397.3|refseq:NP_955533.2|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR001214(SET)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|interpro:IPR044410|mint:Q9HAZ2|rcsb pdb:2N1I|rcsb pdb:6BW4|reactome:R-HSA-3214841|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|ensembl:ENSG00000142611(gene)|ensembl:ENST00000270722(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000976"(transcription cis-regulatory region binding)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0001228"(DNA-binding transcription activator activity, RNA polymerase II-specific)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0016235"(aggresome)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0018024"(histone-lysine N-methyltransferase activity)|go:"GO:0030512"(negative regulation of transforming growth factor beta receptor signaling pathway)|go:"GO:0030853"(negative regulation of granulocyte differentiation)|go:"GO:0043457"(regulation of cellular respiration)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|go:"GO:0046974"("histone methyltransferase activity (H3-K9 specific)")|go:"GO:0050873"(brown fat cell differentiation)|go:"GO:0070828"(heterochromatin organization)|go:"GO:0003712"(transcription coregulator activity) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:1adjB6FTm5Cp3QK0QQK2Iwmkk809606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A0A0U1RQL8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27045727|ensembl:ENSP00000489067 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a0a0u1rql8_human(display_long)|uniprotkb:GSN(gene name)|psi-mi:GSN(display_short)|uniprotkb:Actin regulatory protein CAP-G(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR007123(Gelsolin region)|interpro:IPR029006|interpro:IPR029917|interpro:IPR007122(Gelsolin)|ensembl:ENSG00000148180(gene)|ensembl:ENST00000477104(transcript)|go:"GO:0001726"(ruffle)|go:"GO:0005634"(nucleus)|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0030027"(lamellipodium)|go:"GO:0042470"(melanosome)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:UkrQqPtTBsYX3iM42s66mHMl85g9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y265 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353675|uniprotkb:P82276|uniprotkb:Q1KMR0|uniprotkb:Q53HK5|uniprotkb:Q53HL7|uniprotkb:Q53Y27|uniprotkb:Q9BSX9|uniprotkb:B2R5S0|ensembl:ENSP00000318297|ensembl:ENSP00000494621 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ruvb1_human(display_long)|uniprotkb:RUVBL1(gene name)|psi-mi:RUVBL1(display_short)|uniprotkb:NMP238(gene name synonym)|uniprotkb:TIP49(gene name synonym)|uniprotkb:TIP49A(gene name synonym)|uniprotkb:49 kDa TATA box-binding protein-interacting protein(gene name synonym)|uniprotkb:TIP49a(gene name synonym)|uniprotkb:Pontin 52(gene name synonym)|uniprotkb:Nuclear matrix protein 238(gene name synonym)|uniprotkb:54 kDa erythrocyte cytosolic protein(gene name synonym)|uniprotkb:INO80H(gene name synonym)|uniprotkb:TIP60-associated protein 54-alpha(gene name synonym)|uniprotkb:INO80 complex subunit H(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003698.1|go:"GO:0016020"(membrane)|go:"GO:0016363"(nuclear matrix)|go:"GO:0016573"(histone acetylation)|go:"GO:0017025"(TBP-class protein binding)|go:"GO:0031011"(Ino80 complex)|go:"GO:0035267"(NuA4 histone acetyltransferase complex)|go:"GO:0040008"(regulation of growth)|go:"GO:0043139"(5'-3' DNA helicase activity)|go:"GO:0043531"(ADP binding)|go:"GO:0043967"(histone H4 acetylation)|go:"GO:0043968"(histone H2A acetylation)|go:"GO:0045296"(cadherin binding)|go:"GO:0051117"(ATPase binding)|go:"GO:0051301"(cell division)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071339"(MLL1 complex)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0097255"(R2TP complex)|go:"GO:0120293"(dynein axonemal particle)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1904874"(positive regulation of telomerase RNA localization to Cajal body)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR010339(TIP49, C-terminal)|interpro:IPR027238|interpro:IPR027417|interpro:IPR037938|interpro:IPR041048|mint:Q9Y265|rcsb pdb:2C9O|rcsb pdb:2XSZ|rcsb pdb:5OAF|rcsb pdb:6FO1|rcsb pdb:6HTS|rcsb pdb:6IGM|rcsb pdb:6K0R|rcsb pdb:6QI8|rcsb pdb:6QI9|rcsb pdb:7AHO|reactome:R-HSA-171319|reactome:R-HSA-201722|reactome:R-HSA-3214847|reactome:R-HSA-5689603|reactome:R-HSA-5689880|reactome:R-HSA-5696394|reactome:R-HSA-606279|ensembl:ENSG00000175792(gene)|ensembl:ENSG00000284901(gene)|ensembl:ENST00000322623(transcript)|ensembl:ENST00000643444(transcript)|go:"GO:0000492"(box C/D snoRNP assembly)|go:"GO:0000812"(Swr1 complex)|go:"GO:0001094"(TFIID-class transcription factor complex binding)|go:"GO:0003678"(DNA helicase activity)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0006281"(DNA repair)|go:"GO:0006310"(DNA recombination)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007049"(cell cycle)|go:"GO:0007283"(spermatogenesis)|refseq:NP_001306013.1|dip:DIP-29937N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:+FA/xQTUldQoWGRgad9U8vZpTHw9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62979 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357375|ensembl:ENSP00000272317|ensembl:ENSP00000383981|ensembl:ENSP00000385659|uniprotkb:P14798|uniprotkb:Q6LBL4|uniprotkb:Q9BQ77|uniprotkb:P02248|uniprotkb:P02249|uniprotkb:P02250|uniprotkb:P62988|uniprotkb:Q29120|uniprotkb:Q6LDU5|uniprotkb:Q8WYN8|uniprotkb:Q91887|uniprotkb:Q91888|uniprotkb:Q9BWD6|uniprotkb:Q9BX98|uniprotkb:Q9UEF2|uniprotkb:Q9UEG1|uniprotkb:Q9UEK8|uniprotkb:Q9UPK7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs27a_human(display_long)|uniprotkb:RPS27A(gene name)|psi-mi:RPS27A(display_short)|uniprotkb:UBA80(gene name synonym)|uniprotkb:UBCEP1(gene name synonym)|uniprotkb:Ubiquitin carboxyl extension protein 80(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8863795|reactome:R-HSA-8866652|reactome:R-HSA-8866654|reactome:R-HSA-8875360|reactome:R-HSA-8876493|reactome:R-HSA-8932339|reactome:R-HSA-8939236|reactome:R-HSA-8939902|reactome:R-HSA-8941858|reactome:R-HSA-8948747|reactome:R-HSA-8948751|reactome:R-HSA-8854050|reactome:R-HSA-8951664|reactome:R-HSA-901032|reactome:R-HSA-9010553|reactome:R-HSA-9013507|reactome:R-HSA-9013973|reactome:R-HSA-9014325|reactome:R-HSA-9020702|reactome:R-HSA-9033241|reactome:R-HSA-912631|reactome:R-HSA-917729|reactome:R-HSA-917937|reactome:R-HSA-936440|reactome:R-HSA-936964|reactome:R-HSA-937039|reactome:R-HSA-937041|reactome:R-HSA-937042|reactome:R-HSA-937072|reactome:R-HSA-9604323|reactome:R-HSA-9613829|reactome:R-HSA-9615710|reactome:R-HSA-9633012|reactome:R-HSA-9636383|reactome:R-HSA-9637628|reactome:R-HSA-9645460|reactome:R-HSA-9646399|reactome:R-HSA-9648002|reactome:R-HSA-9664873|reactome:R-HSA-9683683|reactome:R-HSA-9694493|reactome:R-HSA-9705462|reactome:R-HSA-9706369|reactome:R-HSA-9706377|reactome:R-HSA-9708530|reactome:R-HSA-975110|reactome:R-HSA-975163|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-977225|reactome:R-HSA-983168|reactome:R-HSA-975144|ensembl:ENSG00000143947(gene)|ensembl:ENST00000272317(transcript)|ensembl:ENST00000402285(transcript)|ensembl:ENST00000404735(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0019941"(modification-dependent protein catabolic process)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0010008"(endosome membrane)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0031386"(protein tag)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0031982"(vesicle)|go:"GO:0046872"(metal ion binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000626(Ubiquitin)|interpro:IPR002906(Ribosomal protein S27a)|interpro:IPR011332(Ribosomal protein, zinc-binding)|interpro:IPR019954|interpro:IPR019956|interpro:IPR029071|interpro:IPR038582|mint:P62979|rcsb pdb:2KHW|rcsb pdb:2KOX|rcsb pdb:2KTF|rcsb pdb:2KWU|rcsb pdb:2KWV|rcsb pdb:2L0F|rcsb pdb:2L0T|rcsb pdb:2XK5|rcsb pdb:3AXC|rcsb pdb:3I3T|rcsb pdb:3K9P|rcsb pdb:3N30|rcsb pdb:3N32|rcsb pdb:3NHE|rcsb pdb:3NOB|rcsb pdb:3NS8|rcsb pdb:3PHD|rcsb pdb:3PHW|rcsb pdb:3TBL|rcsb pdb:3VDZ|rcsb pdb:4R62|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:6G18|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:5A2Q|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:5AJ0|rcsb pdb:6IP8|rcsb pdb:6J99|rcsb pdb:5FLX|rcsb pdb:6KFP|rcsb pdb:5LKS|rcsb pdb:6KG6|rcsb pdb:6KIU|rcsb pdb:6KIV|rcsb pdb:6KIW|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6SQO|rcsb pdb:5T2C|rcsb pdb:5WVO|rcsb pdb:6SQR|rcsb pdb:6SQS|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:5YDK|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6DC6|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:7K5I|reactome:R-HSA-110312|reactome:R-HSA-110314|reactome:R-HSA-110320|reactome:R-HSA-1169091|reactome:R-HSA-1169408|reactome:R-HSA-1234176|reactome:R-HSA-1236382|reactome:R-HSA-1236974|reactome:R-HSA-1253288|reactome:R-HSA-1295596|reactome:R-HSA-1358803|reactome:R-HSA-156827|reactome:R-HSA-156902|rcsb pdb:6ZXF|reactome:R-HSA-162588|reactome:R-HSA-168638|reactome:R-HSA-168927|reactome:R-HSA-168928|rcsb pdb:6ZXG|reactome:R-HSA-174048|reactome:R-HSA-174084|reactome:R-HSA-174113|reactome:R-HSA-174154|reactome:R-HSA-174178|reactome:R-HSA-174184|rcsb pdb:6ZXH|reactome:R-HSA-174490|reactome:R-HSA-175474|reactome:R-HSA-179409|reactome:R-HSA-1799339|reactome:R-HSA-180534|reactome:R-HSA-180585|reactome:R-HSA-182971|reactome:R-HSA-187577|rcsb pdb:7A09|rcsb pdb:7BWD|reactome:R-HSA-192823|reactome:R-HSA-195253|reactome:R-HSA-201681|reactome:R-HSA-2565942|reactome:R-HSA-202424|reactome:R-HSA-205043|reactome:R-HSA-2644606|reactome:R-HSA-2672351|reactome:R-HSA-209543|reactome:R-HSA-209560|reactome:R-HSA-2691232|reactome:R-HSA-2871837|reactome:R-HSA-2894862|reactome:R-HSA-2979096|reactome:R-HSA-3134975|reactome:R-HSA-3322077|reactome:R-HSA-349425|reactome:R-HSA-211733|reactome:R-HSA-3769402|reactome:R-HSA-3785653|reactome:R-HSA-382556|reactome:R-HSA-400253|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-450408|reactome:R-HSA-2122947|reactome:R-HSA-4608870|reactome:R-HSA-4641257|reactome:R-HSA-2122948|reactome:R-HSA-4641258|reactome:R-HSA-2173788|reactome:R-HSA-4641263|reactome:R-HSA-5205685|reactome:R-HSA-532668|reactome:R-HSA-2173791|reactome:R-HSA-5357905|reactome:R-HSA-2173795|reactome:R-HSA-2173796|reactome:R-HSA-2408557|reactome:R-HSA-2467813|reactome:R-HSA-5357956|reactome:R-HSA-5358346|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-5362768|reactome:R-HSA-5607761|reactome:R-HSA-2559585|reactome:R-HSA-5607764|reactome:R-HSA-5610780|reactome:R-HSA-5610783|reactome:R-HSA-5610785|reactome:R-HSA-5632684|reactome:R-HSA-5654726|reactome:R-HSA-5654727|reactome:R-HSA-5654732|reactome:R-HSA-5654733|reactome:R-HSA-5655862|reactome:R-HSA-5656169|reactome:R-HSA-5656121|reactome:R-HSA-5658442|reactome:R-HSA-5668541|reactome:R-HSA-5675221|reactome:R-HSA-5675482|reactome:R-HSA-5676590|reactome:R-HSA-5678895|reactome:R-HSA-5684264|reactome:R-HSA-5685942|reactome:R-HSA-5687128|reactome:R-HSA-5689603|reactome:R-HSA-5689877|reactome:R-HSA-5689880|reactome:R-HSA-5689896|reactome:R-HSA-5689901|reactome:R-HSA-5693565|reactome:R-HSA-5693607|reactome:R-HSA-5696394|reactome:R-HSA-5696395|reactome:R-HSA-5696397|reactome:R-HSA-5696400|reactome:R-HSA-6781823|reactome:R-HSA-6781827|reactome:R-HSA-6782135|reactome:R-HSA-6782210|reactome:R-HSA-6783310|reactome:R-HSA-6791226|reactome:R-HSA-6804756|reactome:R-HSA-6804757|reactome:R-HSA-6804760|reactome:R-HSA-6807004|reactome:R-HSA-68827|reactome:R-HSA-68949|reactome:R-HSA-69017|reactome:R-HSA-69231|reactome:R-HSA-69481|reactome:R-HSA-69541|reactome:R-HSA-69601|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-75815|reactome:R-HSA-8849469|reactome:R-HSA-8852276|refseq:NP_001129064.1|refseq:NP_001170884.1|refseq:NP_002945.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2LSJafy6vjKHYZcZVx8zZaOXRis9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P08708 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358255|uniprotkb:B2R4U4|intact:EBI-8012092|intact:EBI-11603362|intact:MINT-8395037|uniprotkb:P0CW22|ensembl:ENSP00000483755|ensembl:ENSP00000498019 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs17_human(display_long)|uniprotkb:RPS17(gene name)|psi-mi:RPS17(display_short)|uniprotkb:Small ribosomal subunit protein eS17(gene name synonym)|uniprotkb:RPS17L(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001012.1|ensembl:ENSG00000182774(gene)|ensembl:ENSG00000278229(gene)|ensembl:ENST00000617731(transcript)|ensembl:ENST00000647841(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0006413"(translational initiation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0042274"(ribosomal small subunit biogenesis)|interpro:IPR001210(Ribosomal protein S17e)|interpro:IPR018273|interpro:IPR036401|mint:P08708|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|go:"GO:0034101"(erythrocyte homeostasis)|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBS|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:st+xQCXdSObiy6cJD1cSx869V289606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62241 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351811|uniprotkb:Q6IRL7|uniprotkb:P09058|ensembl:ENSP00000379888 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs8_human(display_long)|uniprotkb:RPS8(gene name)|psi-mi:RPS8(display_short)|uniprotkb:Small ribosomal subunit protein eS8(gene name synonym)|uniprotkb:OK/SW-cl.83(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001003.1|ensembl:ENSG00000142937(gene)|ensembl:ENST00000396651(transcript)|go:"GO:0000462"("maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001047(Ribosomal protein S8e)|interpro:IPR018283|interpro:IPR022309|interpro:IPR042563|mint:P62241|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:6G5H|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975957|reactome:R-HSA-975956 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3rpCBdQyRWR+TCKnupbnCp30jKE9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13029 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2686075|uniprotkb:B1AJZ4|uniprotkb:Q13149|uniprotkb:Q14550|uniprotkb:Q5VUL9|intact:EBI-10970004|uniprotkb:B5MC68|uniprotkb:Q5THJ1|ensembl:ENSP00000235372 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:prdm2_human(display_long)|uniprotkb:KMT8(gene name synonym)|uniprotkb:RIZ(gene name synonym)|uniprotkb:GATA-3-binding protein G3B(gene name synonym)|uniprotkb:Lysine N-methyltransferase 8(gene name synonym)|uniprotkb:MTB-ZF(gene name synonym)|uniprotkb:MTE-binding protein(gene name synonym)|uniprotkb:PR domain-containing protein 2(gene name synonym)|uniprotkb:Retinoblastoma protein-interacting zinc finger protein(gene name synonym)|uniprotkb:Zinc finger protein RIZ(gene name synonym)|uniprotkb:PRDM2(gene name)|psi-mi:PRDM2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001007258.1|refseq:NP_036363.2|refseq:NP_056950.2|refseq:NP_001129082.1|ensembl:ENSP00000235372|ensembl:ENST00000311066|ensembl:ENSP00000312352|ensembl:ENST00000343137|ensembl:ENSP00000341621|ensembl:ENST00000376048|ensembl:ENSP00000365216|ensembl:ENST00000413440|ensembl:ENSP00000411103|refseq:XP_016857744.1|refseq:XP_016857745.1|refseq:XP_016857746.1|refseq:XP_016857748.1|refseq:XP_016857749.1|refseq:XP_016857750.1|refseq:XP_016857751.1|refseq:XP_016857752.1|dip:DIP-428N|ensembl:ENSG00000116731(gene)|ensembl:ENST00000235372(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0001228"(DNA-binding transcription activator activity, RNA polymerase II-specific)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0008270"(zinc ion binding)|go:"GO:0008340"(determination of adult lifespan)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0042054"(histone methyltransferase activity)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|interpro:IPR001214(SET)|interpro:IPR009170("Predicted retinoblastoma binding protein (RIZ)")|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|interpro:IPR044414|rcsb pdb:2JV0|rcsb pdb:2QPW intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ontGZShzT/v18FShCGIt3bkOdl09606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6FI13 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353620|uniprotkb:P20670|uniprotkb:B2R5F0|ensembl:ENSP00000358155|ensembl:ENSP00000475814 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2a2a_human(display_long)|uniprotkb:H2AC18(gene name)|psi-mi:H2AC18(display_short)|uniprotkb:H2AC19(gene name)|psi-mi:H2AC19(display_short)|uniprotkb:H2A-clustered histone 18(gene name synonym)|uniprotkb:H2A-clustered histone 19(gene name synonym)|uniprotkb:H2AFO(gene name synonym)|uniprotkb:HIST2H2AA(gene name synonym)|uniprotkb:HIST2H2AA3(gene name synonym)|uniprotkb:HIST2H2AA4(gene name synonym)|uniprotkb:Histone H2A.2(gene name synonym)|uniprotkb:Histone H2A/o(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001035807.1|refseq:NP_003507.1|ensembl:ENSG00000203812(gene)|ensembl:ENSG00000272196(gene)|ensembl:ENST00000369159(transcript)|ensembl:ENST00000607355(transcript)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006342"|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002119(Histone H2A)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|interpro:IPR032454|interpro:IPR032458|rcsb pdb:6SE6|rcsb pdb:6SEE|rcsb pdb:6SEF|rcsb pdb:6SEG|rcsb pdb:6Y5D|rcsb pdb:7JZV|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214815|reactome:R-HSA-3214847|reactome:R-HSA-3214858|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-5689603|reactome:R-HSA-5689880|reactome:R-HSA-5689901|reactome:R-HSA-606279|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9609690|reactome:R-HSA-9610379|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-977225|dip:DIP-33167N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PMuIm2XMN5q4wk+wYJ94mmnCe4w9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P23396 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351193|uniprotkb:Q498B5|uniprotkb:Q8NI95|uniprotkb:B2R7N5|ensembl:ENSP00000433821|ensembl:ENSP00000434643|ensembl:ENSP00000436971|uniprotkb:J3KN86 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs3_human(display_long)|uniprotkb:RPS3(gene name)|psi-mi:RPS3(display_short)|uniprotkb:Small ribosomal subunit protein uS3(gene name synonym)|uniprotkb:OK/SW-cl.26(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000996.2|ensembl:ENSG00000149273(gene)|ensembl:ENST00000524851(transcript)|ensembl:ENST00000527446(transcript)|ensembl:ENST00000531188(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003677"(DNA binding)|go:"GO:0003684"(damaged DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0003906"("DNA-(apurinic or apyrimidinic site) endonuclease activity")|go:"GO:0004520"(endodeoxyribonuclease activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005743"(mitochondrial inner membrane)|go:"GO:0005759"(mitochondrial matrix)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005844"(polysome)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006281"(DNA repair)|go:"GO:0006412"(translation)|go:"GO:0006413"(translational initiation)|go:"GO:0006915"(apoptotic process)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0007059"(chromosome segregation)|go:"GO:0008017"(microtubule binding)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015631"(tubulin binding)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0019899"(enzyme binding)|go:"GO:0019900"(kinase binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031116"(positive regulation of microtubule polymerization)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0031397"(negative regulation of protein ubiquitination)|go:"GO:0032079"(positive regulation of endodeoxyribonuclease activity)|go:"GO:0032357"(oxidized purine DNA binding)|go:"GO:0032358"(oxidized pyrimidine DNA binding)|go:"GO:0032587"(ruffle membrane)|go:"GO:0032743"(positive regulation of interleukin-2 production)|go:"GO:0034614"(cellular response to reactive oxygen species)|go:"GO:0042104"(positive regulation of activated T cell proliferation)|go:"GO:0042769"(obsolete DNA damage response, detection of DNA damage)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043507"(positive regulation of JUN kinase activity)|go:"GO:0044390"(ubiquitin-like protein conjugating enzyme binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045738"(negative regulation of DNA repair)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0045739"(positive regulation of DNA repair)|go:"GO:0050862"(positive regulation of T cell receptor signaling pathway)|go:"GO:0051018"(protein kinase A binding)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051225"(spindle assembly)|go:"GO:0051301"(cell division)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:0051536"(iron-sulfur cluster binding)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0061481"(response to TNF agonist)|go:"GO:1902231"(positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage)|go:"GO:1902546"(positive regulation of DNA N-glycosylase activity)|go:"GO:1905053"(positive regulation of base-excision repair)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2001235"(positive regulation of apoptotic signaling pathway)|go:"GO:2001272"(positive regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001351(Ribosomal protein S3, C-terminal)|go:"GO:0070181"(small ribosomal subunit rRNA binding)|interpro:IPR004044(K Homology, type 2)|go:"GO:0070301"(cellular response to hydrogen peroxide)|interpro:IPR005703(Ribosomal protein S3, eukaryotic/archaeal)|go:"GO:0071159"(NF-kappaB complex)|interpro:IPR009019(K Homology, prokaryotic type)|interpro:IPR015946(K homology-like, alpha/beta)|go:"GO:0071356"(cellular response to tumor necrosis factor)|interpro:IPR018280|interpro:IPR036419|mint:P23396|rcsb pdb:1WH9|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|go:"GO:0072686"(mitotic spindle)|go:"GO:0097100"(supercoiled DNA binding)|rcsb pdb:6QZP|go:"GO:0140078"("class I DNA-(apurinic or apyrimidinic site) endonuclease activity")|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|refseq:NP_001243731.1|refseq:NP_001247436.1|refseq:NP_001247435.1|dip:DIP-33177N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fsDW18AMR3YyEEIhMVcngYRWkps9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P25398 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354542|uniprotkb:Q76M58|ensembl:ENSP00000230050 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs12_human(display_long)|uniprotkb:RPS12(gene name)|psi-mi:RPS12(display_short)|uniprotkb:Small ribosomal subunit protein eS12(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001007.2|ensembl:ENSG00000112306(gene)|ensembl:ENST00000230050(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|interpro:IPR000530(Ribosomal protein S12e)|interpro:IPR004038(Ribosomal protein L7Ae/L30e/S12e/Gadd45)|interpro:IPR029064|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72702|reactome:R-HSA-72695|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:80AIouzSdCvnLUSA7qsMp6naZ3g9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P47755 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-762451|uniprotkb:B4DG50|ensembl:ENSP00000354947 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:caza2_human(display_long)|uniprotkb:CapZ alpha-2(gene name synonym)|uniprotkb:CAPZA2(gene name)|psi-mi:CAPZA2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006127.1|ensembl:ENSG00000198898(gene)|ensembl:ENST00000361183(transcript)|go:"GO:0005576"(extracellular region)|go:"GO:0005829"(cytosol)|go:"GO:0005903"(brush border)|go:"GO:0008290"(F-actin capping protein complex)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002189(F-actin capping protein, alpha subunit)|interpro:IPR017865|interpro:IPR037282|interpro:IPR042276|interpro:IPR042489|mint:P47755|reactome:R-HSA-2132295|reactome:R-HSA-3371497|reactome:R-HSA-6807878|reactome:R-HSA-6811436|reactome:R-HSA-879415|reactome:R-HSA-9662360|reactome:R-HSA-983231|go:"GO:0016020"(membrane) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7+0w8fJ0OowIwAC7/tdNqiGSepc9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62857 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353027|ensembl:ENSP00000472469|uniprotkb:P25112 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs28_human(display_long)|uniprotkb:RPS28(gene name)|psi-mi:RPS28(display_short)|uniprotkb:Small ribosomal subunit protein eS28(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 mint:P62857|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|ensembl:ENSG00000233927(gene)|ensembl:ENST00000600659(transcript)|go:"GO:0000028"(ribosomal small subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030490"(maturation of SSU-rRNA)|go:"GO:0042254"(ribosome biogenesis)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098556"(cytoplasmic side of rough endoplasmic reticulum membrane)|interpro:IPR000289(Ribosomal protein S28e)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR028626|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZM7|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_001022.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:G4t8mOlzIiHEOXu+uS+AfySWAnM9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62424 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354172|uniprotkb:P11518|uniprotkb:Q5T8U4|ensembl:ENSP00000361076|ensembl:ENSP00000487443 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl7a_human(display_long)|uniprotkb:RPL7A(gene name)|psi-mi:RPL7A(display_short)|uniprotkb:SURF-3(gene name synonym)|uniprotkb:SURF3(gene name synonym)|uniprotkb:Surfeit locus protein 3(gene name synonym)|uniprotkb:PLA-X polypeptide(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL8(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000963.1|dip:DIP-31502N|ensembl:ENSG00000148303(gene)|ensembl:ENSG00000280858(gene)|ensembl:ENST00000323345(transcript)|ensembl:ENST00000630979(transcript)|go:"GO:0000470"(maturation of LSU-rRNA)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045296"(cadherin binding)|interpro:IPR001921(Ribosomal protein L7A)|interpro:IPR004037(Ribosomal protein L7Ae)|interpro:IPR004038(Ribosomal protein L7Ae/L30e/S12e/Gadd45)|interpro:IPR018492|interpro:IPR029064|mint:P62424|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|go:"GO:0005634"(nucleus)|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:shPtLmc+oabT/rSwho+tP1iJy4k9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KTL2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11019035|ensembl:ENSP00000463042 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3ktl2_human(display_long)|uniprotkb:SRSF1(gene name)|psi-mi:SRSF1(display_short)|uniprotkb:SFRS1(gene name synonym)|uniprotkb:Splicing factor, arginine/serine-rich 1(gene name synonym)|uniprotkb:hCG_1774411(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000136450(gene)|ensembl:ENST00000584773(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034520|interpro:IPR035979 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:K/tK4jD9609MsTb53X3c43wTR+49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y8U5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044054|ensembl:ENSP00000422148 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y8u5_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000159692(gene)|ensembl:ENST00000503594(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0051287"(NAD binding)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR036291 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dG9+NkN2Hz2zLny0A4dfZ3FidYg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NZR1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-4289968|uniprotkb:B4DEW6|ensembl:ENSP00000249700 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tmod2_human(display_long)|uniprotkb:TMOD2(gene name)|psi-mi:TMOD2(display_short)|uniprotkb:NTMOD(gene name synonym)|uniprotkb:Neuronal tropomodulin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000128872(gene)|ensembl:ENST00000249700(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005523"(tropomyosin binding)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005865"(striated muscle thin filament)|go:"GO:0006936"(muscle contraction)|go:"GO:0007015"(actin filament organization)|go:"GO:0007270"(neuron-neuron synaptic transmission)|go:"GO:0007399"(nervous system development)|go:"GO:0007611"(learning or memory)|go:"GO:0030016"(myofibril)|go:"GO:0030239"(myofibril assembly)|go:"GO:0030426"(growth cone)|go:"GO:0045202"(synapse)|go:"GO:0045745"(positive regulation of G protein-coupled receptor signaling pathway)|go:"GO:0051694"(pointed-end actin filament capping)|interpro:IPR004934(Tropomodulin)|interpro:IPR030130|interpro:IPR032675|reactome:R-HSA-390522|refseq:NP_001136357.1|refseq:NP_055363.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:km9yOQf3wlXkMxXa/wKFxquWej09606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62140 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352350|uniprotkb:P37140|uniprotkb:Q5U087|uniprotkb:Q6FG45|uniprotkb:D6W565|uniprotkb:B2R5V4|ensembl:ENSP00000296122|ensembl:ENSP00000351298|ensembl:ENSP00000378769 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pp1b_human(display_long)|uniprotkb:PPP1CB(gene name)|psi-mi:PPP1CB(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002700.1|refseq:NP_996759.1|ensembl:ENSG00000213639(gene)|ensembl:ENST00000296122(transcript)|ensembl:ENST00000358506(transcript)|ensembl:ENST00000395366(transcript)|go:"GO:0000164"(protein phosphatase type 1 complex)|go:"GO:0000165"(MAPK cascade)|go:"GO:0004722"(protein serine/threonine phosphatase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0005977"(glycogen metabolic process)|go:"GO:0005979"(regulation of glycogen biosynthetic process)|go:"GO:0005981"(regulation of glycogen catabolic process)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007049"(cell cycle)|go:"GO:0016791"(phosphatase activity)|go:"GO:0017018"(myosin phosphatase activity)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030155"(regulation of cell adhesion)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0042587"(glycogen granule)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0043153"(entrainment of circadian clock by photoperiod)|go:"GO:0046872"(metal ion binding)|go:"GO:0050115"(myosin-light-chain-phosphatase activity)|go:"GO:0051301"(cell division)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|go:"GO:0106306"|go:"GO:0106307"|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR006186("Serine/threonine-specific protein phosphatase and bis(5-nucleosyl)-tetraphosphatase")|interpro:IPR029052|interpro:IPR031675|mint:P62140|reactome:R-HSA-163560|reactome:R-HSA-2173788|reactome:R-HSA-2565942|reactome:R-HSA-400253|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|reactome:R-HSA-5673000|reactome:R-HSA-9660537|dip:DIP-33220N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VtNJVyimeiEuRDDWtGswTqoSOH89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P30050 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352743|uniprotkb:Q6PB27|uniprotkb:Q5VVV2|ensembl:ENSP00000354739 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl12_human(display_long)|uniprotkb:RPL12(gene name)|psi-mi:RPL12(display_short)|uniprotkb:Large ribosomal subunit protein uL11(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000967.1|ensembl:ENSG00000197958(gene)|ensembl:ENST00000361436(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015934"(large ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070180"(large ribosomal subunit rRNA binding)|interpro:IPR000911(Ribosomal protein L11)|interpro:IPR020783|interpro:IPR020784|interpro:IPR020785|interpro:IPR036769|interpro:IPR036796|mint:P30050|rcsb pdb:4V6X|rcsb pdb:5A8L|rcsb pdb:5AJ0|rcsb pdb:6OLG|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:TNPEtl60cILofaPzUznvZiw6D7E9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P52907 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355586|uniprotkb:Q53FQ6|uniprotkb:Q6FHD5|ensembl:ENSP00000263168 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:caza1_human(display_long)|uniprotkb:CAPZA1(gene name)|psi-mi:CAPZA1(display_short)|uniprotkb:CapZ alpha-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006126.1|ensembl:ENSG00000116489(gene)|ensembl:ENST00000263168(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0008290"(F-actin capping protein complex)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0034329"(cell junction assembly)|go:"GO:0045296"(cadherin binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071203"(WASH complex)|interpro:IPR002189(F-actin capping protein, alpha subunit)|interpro:IPR017865|interpro:IPR037282|interpro:IPR042276|interpro:IPR042489|mint:P52907|rcsb pdb:1MQ1|rcsb pdb:1MWN|reactome:R-HSA-2132295|reactome:R-HSA-3371497|reactome:R-HSA-6807878|reactome:R-HSA-6811436|reactome:R-HSA-879415|reactome:R-HSA-8950505|reactome:R-HSA-9662360|reactome:R-HSA-983231 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:97S4WPtjgt4MDLoptRhQ2yH8UNE9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9P2K3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-743428|uniprotkb:B3KYA2|uniprotkb:B4DYY7|uniprotkb:Q5VT47|uniprotkb:Q7L9I5|uniprotkb:Q8N5U3|uniprotkb:Q9NV83|ensembl:ENSP00000355972 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rcor3_human(display_long)|uniprotkb:RCOR3(gene name)|psi-mi:RCOR3(display_short)|uniprotkb:KIAA1343(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:4CZZ|refseq:NP_001129695.1|refseq:NP_001129696.2|refseq:NP_001129697.1|refseq:NP_060724.1|ensembl:ENSG00000117625(gene)|ensembl:ENST00000367005(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0016575"(histone deacetylation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|interpro:IPR000949(ELM2)|interpro:IPR001005(SANT, DNA-binding)|interpro:IPR009057(Homeodomain-like)|interpro:IPR017884|interpro:IPR017930|mint:Q9P2K3 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:hzuKCK7o/85XbN65z8Ua+XNaSJc9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NQ92 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1642558|uniprotkb:E1P656|uniprotkb:A6NP14|uniprotkb:Q96EF5|uniprotkb:Q96P75|ensembl:ENSP00000304327 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:coprs_human(display_long)|uniprotkb:COPRS(gene name)|psi-mi:COPRS(display_short)|uniprotkb:C17orf79(gene name synonym)|uniprotkb:COPR5(gene name synonym)|uniprotkb:Cooperator of PRMT5(gene name synonym)|uniprotkb:Protein TTP1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_060875.2|ensembl:ENSG00000172301(gene)|ensembl:ENST00000302362(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0007517"(muscle organ development)|go:"GO:0042393"(histone binding)|go:"GO:0043985"(histone H4-R3 methylation)|interpro:IPR029289|mint:Q9NQ92|reactome:R-HSA-3214858 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qO6jrJ2Zx0gVwqXbB+1EtiYvb589606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q06830 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353193|ensembl:ENSP00000262746|ensembl:ENSP00000361152|ensembl:ENSP00000389047|ensembl:ENSP00000407034|ensembl:ENSP00000503140|uniprotkb:P35703|uniprotkb:Q2V576|uniprotkb:Q5T154|uniprotkb:Q5T155|uniprotkb:B5BU26|uniprotkb:D3DPZ8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:prdx1_human(display_long)|uniprotkb:PRDX1(gene name)|psi-mi:PRDX1(display_short)|uniprotkb:PAGA(gene name synonym)|uniprotkb:PAGB(gene name synonym)|uniprotkb:TDPX2(gene name synonym)|uniprotkb:Thioredoxin peroxidase 2(gene name synonym)|uniprotkb:Thioredoxin-dependent peroxide reductase 2(gene name synonym)|uniprotkb:Proliferation-associated gene protein(gene name synonym)|uniprotkb:Natural killer cell-enhancing factor A(gene name synonym)|uniprotkb:Thioredoxin-dependent peroxiredoxin 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000117450(gene)|ensembl:ENST00000262746(transcript)|ensembl:ENST00000319248(transcript)|ensembl:ENST00000424390(transcript)|ensembl:ENST00000447184(transcript)|ensembl:ENST00000676549(transcript)|go:"GO:0001895"(retina homeostasis)|go:"GO:0003723"(RNA binding)|go:"GO:0001501"(skeletal system development)|go:"GO:0004601"(peroxidase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0008283"(cell population proliferation)|go:"GO:0008379"(thioredoxin peroxidase activity)|go:"GO:0019430"(removal of superoxide radicals)|go:"GO:0030101"(natural killer cell activation)|go:"GO:0032872"(regulation of stress-activated MAPK cascade)|go:"GO:0034101"(erythrocyte homeostasis)|go:"GO:0042267"(natural killer cell mediated cytotoxicity)|go:"GO:0042470"(melanosome)|go:"GO:0042744"(hydrogen peroxide catabolic process)|go:"GO:0042802"(identical protein binding)|go:"GO:0045296"(cadherin binding)|go:"GO:0045321"(leukocyte activation)|go:"GO:0045454"(cell redox homeostasis)|go:"GO:0070062"(extracellular exosome)|go:"GO:1901222"(regulation of NIK/NF-kappaB signaling)|interpro:IPR000866(Alkyl hydroperoxide reductase/ Thiol specific antioxidant/ Mal allergen)|interpro:IPR013766(Thioredoxin domain)|interpro:IPR019479|interpro:IPR024706|interpro:IPR036249|mint:Q06830|rcsb pdb:2RII|rcsb pdb:3HY2|rcsb pdb:4XCS|reactome:R-HSA-3299685|reactome:R-HSA-5628897|reactome:R-HSA-8862803|refseq:NP_001189360.1|refseq:NP_002565.1|refseq:NP_859047.1|refseq:NP_859048.1|dip:DIP-33152N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZM5ZXF900izH81QVqgd2+opwMrs9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11940 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-81531|intact:EBI-28983164|ensembl:ENSP00000313007|ensembl:ENSP00000428749|ensembl:ENSP00000428840|ensembl:ENSP00000429119|ensembl:ENSP00000429790|ensembl:ENSP00000429892|ensembl:ENSP00000430012|uniprotkb:Q15097|uniprotkb:Q93004 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pabp1_human(display_long)|uniprotkb:PABPC1(gene name)|psi-mi:PABPC1(display_short)|uniprotkb:PAB1(gene name synonym)|uniprotkb:PABP1(gene name synonym)|uniprotkb:PABPC2(gene name synonym)|uniprotkb:PABP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR006515(Polyadenylate binding protein, human types 1, 2, 3, 4)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979|interpro:IPR036053|mint:P11940|rcsb pdb:1CVJ|rcsb pdb:1G9L|rcsb pdb:1JGN|rcsb pdb:1JH4|rcsb pdb:2K8G|rcsb pdb:2RQG|rcsb pdb:2RQH|rcsb pdb:2X04|rcsb pdb:3KTP|rcsb pdb:3KTR|rcsb pdb:3KUI|rcsb pdb:3KUJ|rcsb pdb:3KUR|rcsb pdb:3KUS|rcsb pdb:3KUT|rcsb pdb:3PKN|interpro:IPR003954(RNA recognition, region 1)|rcsb pdb:3PTH|rcsb pdb:4F02|rcsb pdb:4F25|rcsb pdb:4F26|ensembl:ENSG00000070756(gene)|ensembl:ENST00000318607(transcript)|ensembl:ENST00000520142(transcript)|ensembl:ENST00000520804(transcript)|ensembl:ENST00000521865(transcript)|ensembl:ENST00000522658(transcript)|ensembl:ENST00000522720(transcript)|ensembl:ENST00000523555(transcript)|go:"GO:0000184"(nuclear-transcribed mRNA catabolic process, nonsense-mediated decay)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0016020"(membrane)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0030027"(lamellipodium)|go:"GO:0005634"(nucleus)|go:"GO:0031047"(gene silencing by RNA)|go:"GO:0031252"(cell leading edge)|go:"GO:0005737"(cytoplasm)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0045070"(positive regulation of viral genome replication)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006378"(mRNA polyadenylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008143"("poly(A) binding")|go:"GO:0048255"(mRNA stabilization)|go:"GO:0008266"("poly(U) RNA binding")|go:"GO:0008494"(translation activator activity)|go:"GO:0060213"("positive regulation of nuclear-transcribed mRNA poly(A) tail shortening")|go:"GO:0070062"(extracellular exosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1900153"(positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000623"(negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR002004(Polyadenylate-binding protein/Hyperplastic disc protein)|rcsb pdb:5DX1|refseq:NP_002559.2|rcsb pdb:5DX8|rcsb pdb:5DXA|rcsb pdb:5LGP|rcsb pdb:5LGQ|rcsb pdb:5LGR|rcsb pdb:5LGS|reactome:R-HSA-156827|reactome:R-HSA-429947|reactome:R-HSA-450408|reactome:R-HSA-72649|reactome:R-HSA-9010553|reactome:R-HSA-975956|reactome:R-HSA-975957|ensembl:ENSP00000313007|ensembl:ENSP00000430012|ensembl:ENSP00000428749|ensembl:ENSP00000429119|ensembl:ENSP00000428840|ensembl:ENSP00000429790|ensembl:ENSP00000429892|refseq:XP_005250918.1|dip:DIP-31613N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XudTSPq2h9ckKAc48X88RVafPRU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5T7N0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046230|ensembl:ENSP00000359338 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:q5t7n0_human(display_long)|uniprotkb:RPL5(gene name)|psi-mi:RPL5(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000122406(gene)|ensembl:ENST00000315741(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|go:"GO:0008097"(5S rRNA binding)|interpro:IPR005485(Ribosomal protein L5, eukaryotic) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:G2WCoBiV7wnUmxmX2I09K6pee6E9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BUF5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356735|uniprotkb:Q9HA42|ensembl:ENSP00000318697|uniprotkb:B3KM76 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb6_human(display_long)|uniprotkb:TUBB6(gene name)|psi-mi:TUBB6(display_short)|uniprotkb:Tubulin beta class V(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000176014(gene)|ensembl:ENST00000317702(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|refseq:NP_115914.1|interpro:IPR036525|interpro:IPR037103|mint:Q9BUF5|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|refseq:NP_001290453.1|refseq:NP_001290454.1|refseq:NP_001290455.1|refseq:NP_001290456.1|refseq:NP_001290457.1|refseq:NP_001290458.1|refseq:NP_001290459.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/IC9o8wSAOu+lNgq44Qqu5hEof49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:G8JLB6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21357942|ensembl:ENSP00000327539 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:g8jlb6_human(display_long)|uniprotkb:HNRNPH1(gene name)|psi-mi:HNRNPH1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000169045(gene)|ensembl:ENST00000329433(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR012996(Zinc finger, CHHC-type)|interpro:IPR035979|refseq:XP_005265952.1|refseq:XP_005265953.1|refseq:XP_011532844.1|refseq:XP_011532846.1|refseq:XP_011532847.1|refseq:XP_011532848.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:SUyfrDnUyHSIh8tkTKJQSqp73Es9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P47756 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353595|uniprotkb:Q5U0L4|uniprotkb:Q8TB49|uniprotkb:Q9NUC4|uniprotkb:Q32Q68|ensembl:ENSP00000364284|ensembl:ENSP00000501528 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:capzb_human(display_long)|uniprotkb:CAPZB(gene name)|psi-mi:CAPZB(display_short)|uniprotkb:CapZ beta(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001193469.1|refseq:NP_004921.1|go:"GO:0045296"(cadherin binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0051490"(negative regulation of filopodium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071203"(WASH complex)|go:"GO:0097224"(sperm connecting piece)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0098686"(hippocampal mossy fiber to CA3 synapse)|interpro:IPR001698(F-actin capping protein, beta subunit)|interpro:IPR019771|interpro:IPR037282|interpro:IPR042276|interpro:IPR043175|mint:P47756|reactome:R-HSA-2132295|reactome:R-HSA-3371497|reactome:R-HSA-6807878|reactome:R-HSA-6811436|reactome:R-HSA-9013405|reactome:R-HSA-9035034|reactome:R-HSA-9662360|reactome:R-HSA-983231|ensembl:ENSG00000077549(gene)|ensembl:ENST00000375142(transcript)|ensembl:ENST00000674432(transcript)|go:"GO:0000902"(cell morphogenesis)|go:"GO:0003779"(actin binding)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005903"(brush border)|go:"GO:0007010"(cytoskeleton organization)|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0008290"(F-actin capping protein complex)|go:"GO:0010591"(regulation of lamellipodium assembly)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0022604"(regulation of cell morphogenesis)|go:"GO:0030017"(sarcomere)|go:"GO:0030027"(lamellipodium)|go:"GO:0030032"(lamellipodium assembly)|go:"GO:0030863"(cortical cytoskeleton)|refseq:NP_001269091.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qRXsrB2fLT1DMVIVRWKFYe4Aln49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P05388 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354101|uniprotkb:Q9BVK4|intact:EBI-8012155|intact:MINT-8395053|uniprotkb:Q3B7A4|ensembl:ENSP00000339027|ensembl:ENSP00000376299|ensembl:ENSP00000449328 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rla0_human(display_long)|uniprotkb:RPLP0(gene name)|psi-mi:RPLP0(display_short)|uniprotkb:60S ribosomal protein L10E(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000993.1|refseq:NP_444505.1|ensembl:ENSG00000089157(gene)|ensembl:ENST00000228306(transcript)|ensembl:ENST00000392514(transcript)|ensembl:ENST00000551150(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0030425"(dendrite)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070180"(large ribosomal subunit rRNA binding)|go:"GO:0071353"(cellular response to interleukin-4)|go:"GO:0098794"(postsynapse)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001790(Ribosomal protein L10)|interpro:IPR030670|interpro:IPR040637|interpro:IPR043141|interpro:IPR043164|mint:P05388|rcsb pdb:4V6W|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:6OLG|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-8950505|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:xv3QHqnXxvCd3BOIeHVkqEnSNNk9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13885 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-711595|ensembl:ENSP00000369703|uniprotkb:Q6FGZ8|uniprotkb:Q8IWR2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb2a_human(display_long)|uniprotkb:TUBB2A(gene name)|psi-mi:TUBB2A(display_short)|uniprotkb:TUBB2(gene name synonym)|uniprotkb:Tubulin beta class IIa(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-389957|reactome:R-HSA-983189|reactome:R-HSA-9668328|ensembl:ENSG00000137267(gene)|ensembl:ENST00000333628(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0001764"(neuron migration)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903561"(extracellular vesicle)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:Q13885|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|refseq:NP_001060.1|refseq:NP_001297244.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XN9uTGU0KxQjMod0AGnM+XJoHyk9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8WUY3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-743880|intact:EBI-28967347|ensembl:ENSP00000365908|uniprotkb:Q5T304|uniprotkb:B4DQH8|uniprotkb:O15073|uniprotkb:Q58A63|uniprotkb:Q5T476|uniprotkb:Q6T2V6|uniprotkb:Q6T2V7|uniprotkb:Q8N665|uniprotkb:Q5JUB6|uniprotkb:B3KYC4 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:prun2_human(display_long)|uniprotkb:PRUNE2(gene name)|psi-mi:PRUNE2(display_short)|uniprotkb:C9orf65(gene name synonym)|uniprotkb:BMCC1(gene name synonym)|uniprotkb:BNIPXL(gene name synonym)|uniprotkb:KIAA0367(gene name synonym)|uniprotkb:BNIP2 motif-containing molecule at the C-terminal region 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000365908|ensembl:ENSG00000106772(gene)|ensembl:ENST00000376718(transcript)|go:"GO:0004309"(exopolyphosphatase activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0006798"(polyphosphate catabolic process)|go:"GO:0006915"(apoptotic process)|go:"GO:0046872"(metal ion binding)|interpro:IPR001251(Cellular retinaldehyde-binding/triple function, C-terminal)|interpro:IPR004097(DHHA2)|interpro:IPR022181|interpro:IPR036865|interpro:IPR038222|interpro:IPR038763|refseq:NP_056040.2|refseq:NP_001294976.1|refseq:NP_001294977.1|refseq:NP_001294978.1|refseq:NP_001294979.1|refseq:NP_001294980.1|refseq:XP_011516625.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rK1uzBXTEpJHKZ6p6Y0EgfdLibw9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P39023 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1056348|uniprotkb:Q15548|uniprotkb:Q5I0G0|uniprotkb:B2RDV9|ensembl:ENSP00000346001 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl3_human(display_long)|uniprotkb:RPL3(gene name)|psi-mi:RPL3(display_short)|uniprotkb:HIV-1 TAR RNA-binding protein B(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL3(gene name synonym)|uniprotkb:OK/SW-cl.32(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000958.1|ensembl:ENSG00000100316(gene)|ensembl:ENST00000216146(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0032991"(protein-containing complex)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071353"(cellular response to interleukin-4)|interpro:IPR000597(Ribosomal protein L3)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR019926|mint:P39023|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:j3MVAYfO/bziJBPmH4zCFqFskZ89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P63244 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-296739|ensembl:ENSP00000426909|uniprotkb:P25388|uniprotkb:P99049|intact:EBI-923003|uniprotkb:B3KTJ0|uniprotkb:Q53HU2|uniprotkb:Q5J8M6|uniprotkb:Q5VLR4|uniprotkb:Q6FH47|intact:EBI-2559282|uniprotkb:D3DWS0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rack1_human(display_long)|uniprotkb:Small ribosomal subunit protein RACK1(gene name synonym)|uniprotkb:HLC7(orf name)|uniprotkb:PIG21(orf name)|uniprotkb:RACK1(gene name)|psi-mi:RACK1(display_short)|uniprotkb:Cell proliferation-inducing gene 21 protein(gene name synonym)|uniprotkb:GNB2L1(gene name synonym)|uniprotkb:Guanine nucleotide-binding protein subunit beta-2-like 1(gene name synonym)|uniprotkb:Guanine nucleotide-binding protein subunit beta-like protein 12.3(gene name synonym)|uniprotkb:Human lung cancer oncogene 7 protein(gene name synonym)|uniprotkb:Receptor for activated C kinase(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:4AOW|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|mint:P63244|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|ensembl:ENSG00000204628(gene)|ensembl:ENST00000512805(transcript)|go:"GO:0001891"(phagocytic cup)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|go:"GO:0006919"(activation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0007049"(cell cycle)|go:"GO:0007369"(gastrulation)|go:"GO:0008200"(ion channel inhibitor activity)|go:"GO:0008656"(cysteine-type endopeptidase activator activity involved in apoptotic process)|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-5357905|reactome:R-HSA-5357956|reactome:R-HSA-5626978|rcsb pdb:6ZUO|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0019899"(enzyme binding)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0030178"(negative regulation of Wnt signaling pathway)|go:"GO:0030292"(protein tyrosine kinase inhibitor activity)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0030332"(cyclin binding)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030425"(dendrite)|go:"GO:0030496"(midbody)|go:"GO:0030971"(receptor tyrosine kinase binding)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032436"(positive regulation of proteasomal ubiquitin-dependent protein catabolic process)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0033137"(negative regulation of peptidyl-serine phosphorylation)|go:"GO:0035591"(signaling adaptor activity)|go:"GO:0042169"(SH2 domain binding)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043022"(ribosome binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0042998"(positive regulation of Golgi to plasma membrane protein transport)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043204"(perikaryon)|go:"GO:0043473"(pigmentation)|go:"GO:0043547"(positive regulation of GTPase activity)|go:"GO:0045296"(cadherin binding)|go:"GO:0045879"(negative regulation of smoothened signaling pathway)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048511"(rhythmic process)|go:"GO:0050765"(negative regulation of phagocytosis)|go:"GO:0051302"(regulation of cell division)|go:"GO:0051343"(positive regulation of cyclic-nucleotide phosphodiesterase activity)|go:"GO:0051434"(BH3 domain binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0051898"(negative regulation of protein kinase B signaling)|go:"GO:0051901"(positive regulation of mitochondrial depolarization)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071333"(cellular response to glucose stimulus)|go:"GO:0071363"(cellular response to growth factor stimulus)|go:"GO:0072344"(rescue of stalled ribosome)|go:"GO:1900102"(negative regulation of endoplasmic reticulum unfolded protein response)|go:"GO:1903208"(negative regulation of hydrogen peroxide-induced neuron death)|go:"GO:1990630"(IRE1-RACK1-PP2A complex)|go:"GO:2000114"(regulation of establishment of cell polarity)|go:"GO:2000543"(positive regulation of gastrulation)|go:"GO:2001244"(positive regulation of intrinsic apoptotic signaling pathway)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR020472|interpro:IPR036322|go:"GO:0060090"(molecular adaptor activity)|refseq:NP_006089.1|dip:DIP-46736N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LXHlhPtxUzHJNncoPteGw2iXsFg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P02511 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-739060|uniprotkb:O43416|uniprotkb:B0YIX0|uniprotkb:Q9UC37|uniprotkb:Q9UC38|uniprotkb:Q9UC39|uniprotkb:Q9UC40|uniprotkb:Q9UC41|ensembl:ENSP00000227251|ensembl:ENSP00000433560|ensembl:ENSP00000434247|ensembl:ENSP00000435931|ensembl:ENSP00000436051|ensembl:ENSP00000436089|ensembl:ENSP00000437149|ensembl:ENSP00000483554|ensembl:ENSP00000498735|ensembl:ENSP00000499082 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cryab_human(display_long)|uniprotkb:CRYAB(gene name)|psi-mi:CRYAB(display_short)|uniprotkb:CRYA2(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-27(gene name synonym)|uniprotkb:"Alpha(B)-crystallin"(gene name synonym)|uniprotkb:Rosenthal fiber component(gene name synonym)|uniprotkb:Heat shock protein beta-5(gene name synonym)|uniprotkb:HSPB5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000109846(gene)|ensembl:ENST00000227251(transcript)|ensembl:ENST00000526180(transcript)|ensembl:ENST00000527899(transcript)|ensembl:ENST00000527950(transcript)|ensembl:ENST00000531198(transcript)|ensembl:ENST00000533475(transcript)|ensembl:ENST00000533879(transcript)|ensembl:ENST00000616970(transcript)|ensembl:ENST00000650687(transcript)|ensembl:ENST00000651164(transcript)|go:"GO:0001540"(amyloid-beta binding)|go:"GO:0001666"(response to hypoxia)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006457"(protein folding)|go:"GO:0006936"(muscle contraction)|go:"GO:0007021"(tubulin complex assembly)|go:"GO:0007517"(muscle organ development)|go:"GO:0008017"(microtubule binding)|go:"GO:0009986"(cell surface)|go:"GO:0010259"(multicellular organism aging)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0010941"(regulation of cell death)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0030018"(Z disc)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0030424"(axon)|go:"GO:0031109"(microtubule polymerization or depolymerization)|go:"GO:0031333"(negative regulation of protein-containing complex assembly)|go:"GO:0031430"(M band)|go:"GO:0032355"(response to estradiol)|go:"GO:0032387"(negative regulation of intracellular transport)|go:"GO:0032432"(actin filament bundle)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042542"(response to hydrogen peroxide)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043154"(negative regulation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051403"(stress-activated MAPK cascade)|go:"GO:0060561"(apoptotic process involved in morphogenesis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0071480"(cellular response to gamma radiation)|go:"GO:0097060"(synaptic membrane)|go:"GO:0097512"(cardiac myofibril)|go:"GO:1905907"(negative regulation of amyloid fibril formation)|go:"GO:2000378"(negative regulation of reactive oxygen species metabolic process)|interpro:IPR001436(Alpha crystallin/Heat shock protein)|interpro:IPR002068(Heat shock protein Hsp20)|interpro:IPR003090(Alpha-crystallin, N-terminal)|interpro:IPR008978(HSP20-like chaperone)|interpro:IPR037882|mint:P02511|rcsb pdb:2KLR|rcsb pdb:2N0K|rcsb pdb:2WJ7|rcsb pdb:2Y1Y|rcsb pdb:2Y1Z|rcsb pdb:2YGD|rcsb pdb:3J07|rcsb pdb:2Y22|rcsb pdb:3L1G|rcsb pdb:3SGM|rcsb pdb:3SGN|rcsb pdb:3SGO|rcsb pdb:3SGP|rcsb pdb:3SGR|rcsb pdb:3SGS|rcsb pdb:4M5S|rcsb pdb:4M5T|rcsb pdb:5VVV|rcsb pdb:6BP9|reactome:R-HSA-3371571|refseq:NP_001876.1|refseq:XP_011540910.1|refseq:NP_001276736.1|refseq:NP_001276737.1|dip:DIP-35017N intact:EBI-27047305(see-also) - crc64:AE08BED46B7849CB figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:495Z42oQhkAUdADrAEOKIC5oICo9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04792 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352682|uniprotkb:Q6FI47|uniprotkb:Q96C20|uniprotkb:Q96EI7|uniprotkb:Q9UC34|uniprotkb:Q9UC35|uniprotkb:Q9UC36|uniprotkb:Q9UC31|ensembl:ENSP00000248553|uniprotkb:B2R4N8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hspb1_human(display_long)|uniprotkb:HSPB1(gene name)|psi-mi:HSPB1(display_short)|uniprotkb:HSP27(gene name synonym)|uniprotkb:HSP28(gene name synonym)|uniprotkb:Heat shock 27 kDa protein(gene name synonym)|uniprotkb:Stress-responsive protein 27(gene name synonym)|uniprotkb:Estrogen-regulated 24 kDa protein(gene name synonym)|uniprotkb:28 kDa heat shock protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001531.1|ensembl:ENSG00000106211(gene)|ensembl:ENST00000248553(transcript)|go:"GO:0000502"(proteasome complex)|go:"GO:0001895"(retina homeostasis)|go:"GO:0001932"(regulation of protein phosphorylation)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005819"(spindle)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006446"(regulation of translational initiation)|go:"GO:0006469"(negative regulation of protein kinase activity)|go:"GO:0006986"(response to unfolded protein)|go:"GO:0008426"(protein kinase C inhibitor activity)|go:"GO:0009615"(response to virus)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030018"(Z disc)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0035924"(cellular response to vascular endothelial growth factor stimulus)|go:"GO:0038033"(positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043122"(regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043130"(ubiquitin binding)|go:"GO:0043536"(positive regulation of blood vessel endothelial cell migration)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0045766"(positive regulation of angiogenesis)|go:"GO:0061077"(chaperone-mediated protein folding)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0099641"(anterograde axonal protein transport)|go:"GO:1902176"(negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway)|go:"GO:1904115"(axon cytoplasm)|go:"GO:2001028"(positive regulation of endothelial cell chemotaxis)|interpro:IPR001436(Alpha crystallin/Heat shock protein)|interpro:IPR002068(Heat shock protein Hsp20)|interpro:IPR008978(HSP20-like chaperone)|interpro:IPR037876|mint:P04792|rcsb pdb:2N3J|rcsb pdb:3Q9P|rcsb pdb:3Q9Q|rcsb pdb:4MJH|rcsb pdb:6DV5|rcsb pdb:6GJH|reactome:R-HSA-4420097|reactome:R-HSA-450408|reactome:R-HSA-5687128|reactome:R-HSA-9009391|dip:DIP-412N intact:EBI-27047305(see-also) - crc64:1B4DC44A6F6606D5 figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:vrDXIdzP30aHSDLHOh2D4x54eJY9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DR52 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21357538 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dr52_human(display_long) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0046982"(protein heterodimerization activity)|rcsb pdb:7BG9|interpro:IPR009072(Histone-fold)|interpro:IPR007125(Histone core)|interpro:IPR000558(Histone H2B) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:yuMvD088vLfoSAYLEcV3evV+1T09606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P0DP23 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25817233|ensembl:ENSP00000349467|intact:EBI-28973196|uniprotkb:P02593|uniprotkb:P62158|uniprotkb:P70667|uniprotkb:P99014|uniprotkb:Q13942|uniprotkb:Q53S29|uniprotkb:Q61379|uniprotkb:Q61380|uniprotkb:Q96HK3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:calm1_human(display_long)|uniprotkb:CALM1(gene name)|psi-mi:CALM1(display_short)|uniprotkb:CALM(gene name synonym)|uniprotkb:CAM(gene name synonym)|uniprotkb:CAM1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:2I08|rcsb pdb:2JZI|rcsb pdb:2K0E|rcsb pdb:2K0F|rcsb pdb:2K0J|rcsb pdb:2K61|rcsb pdb:2KNE|rcsb pdb:2KUG|rcsb pdb:2KUH|rcsb pdb:2L53|rcsb pdb:2L7L|rcsb pdb:2LGF|rcsb pdb:2LL6|rcsb pdb:2LL7|rcsb pdb:2LQC|rcsb pdb:2LQP|rcsb pdb:2LV6|rcsb pdb:2M0J|rcsb pdb:2M0K|rcsb pdb:2M55|rcsb pdb:2MG5|rcsb pdb:2N27|rcsb pdb:2N6A|rcsb pdb:2N77|rcsb pdb:2N8J|rcsb pdb:2R28|rcsb pdb:2V01|rcsb pdb:2V02|rcsb pdb:2VAY|rcsb pdb:2HF5|rcsb pdb:2W73|rcsb pdb:2WEL|rcsb pdb:2X0G|go:"GO:0098901"(regulation of cardiac muscle cell action potential)|go:"GO:0140056"(organelle localization by membrane tethering)|go:"GO:1900242"(regulation of synaptic vesicle endocytosis)|go:"GO:1901842"(negative regulation of high voltage-gated calcium channel activity)|go:"GO:1901844"(regulation of cell communication by electrical coupling involved in cardiac conduction)|go:"GO:1902494"(catalytic complex)|go:"GO:1905913"(negative regulation of calcium ion export across plasma membrane)|go:"GO:1990456"(mitochondrion-endoplasmic reticulum membrane tethering)|go:"GO:2000300"(regulation of synaptic vesicle exocytosis)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR018247|mint:P0DP23|rcsb pdb:1AJI|rcsb pdb:1CDL|rcsb pdb:1CLL|rcsb pdb:1CTR|rcsb pdb:1IWQ|rcsb pdb:1J7O|rcsb pdb:1J7P|rcsb pdb:1K90|go:"GO:0097718"(disordered domain specific binding)|rcsb pdb:1K93|rcsb pdb:1L7Z|rcsb pdb:1LVC|ensembl:ENSG00000198668(gene)|ensembl:ENST00000356978(transcript)|go:"GO:0000086"(G2/M transition of mitotic cell cycle)|go:"GO:0000922"(spindle pole)|go:"GO:0001975"(response to amphetamine)|go:"GO:0002027"(regulation of heart rate)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005513"(detection of calcium ion)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005876"(spindle microtubule)|go:"GO:0005886"(plasma membrane)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007190"(activation of adenylate cyclase activity)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0008179"(adenylate cyclase binding)|go:"GO:0010800"(positive regulation of peptidyl-threonine phosphorylation)|go:"GO:0010801"(negative regulation of peptidyl-threonine phosphorylation)|go:"GO:0010856"(adenylate cyclase activator activity)|go:"GO:0010880"(regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum)|go:"GO:0010881"(regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion)|go:"GO:0016240"(autophagosome membrane docking)|go:"GO:0019855"(calcium channel inhibitor activity)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0021762"(substantia nigra development)|go:"GO:0030017"(sarcomere)|go:"GO:0030234"(enzyme regulator activity)|go:"GO:0030235"(nitric-oxide synthase regulator activity)|go:"GO:0030426"(growth cone)|go:"GO:0031432"(titin binding)|go:"GO:0031800"(type 3 metabotropic glutamate receptor binding)|go:"GO:0031954"(positive regulation of protein autophosphorylation)|go:"GO:0031966"(mitochondrial membrane)|go:"GO:0031982"(vesicle)|go:"GO:0031997"(N-terminal myristoylation domain binding)|go:"GO:0032465"(regulation of cytokinesis)|go:"GO:0032516"(positive regulation of phosphoprotein phosphatase activity)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034704"(calcium channel complex)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0043209"(myelin sheath)|go:"GO:0043388"(positive regulation of DNA binding)|go:"GO:0043539"(protein serine/threonine kinase activator activity)|go:"GO:0043548"(phosphatidylinositol 3-kinase binding)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0050848"(regulation of calcium-mediated signaling)|go:"GO:0050998"(nitric-oxide synthase binding)|go:"GO:0051000"(positive regulation of nitric-oxide synthase activity)|go:"GO:0051343"(positive regulation of cyclic-nucleotide phosphodiesterase activity)|go:"GO:0051412"(response to corticosterone)|go:"GO:0051592"(response to calcium ion)|go:"GO:0055117"(regulation of cardiac muscle contraction)|go:"GO:0060314"(regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0060315"(negative regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0060316"(positive regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0071902"(positive regulation of protein serine/threonine kinase activity)|go:"GO:0072542"(protein phosphatase activator activity)|go:"GO:0090151"(establishment of protein localization to mitochondrial membrane)|go:"GO:0030672"(synaptic vesicle membrane)|rcsb pdb:1PK0|rcsb pdb:1S26|rcsb pdb:1SK6|rcsb pdb:1SW8|rcsb pdb:1UP5|rcsb pdb:1WRZ|rcsb pdb:1XFU|rcsb pdb:1XFV|rcsb pdb:1XFW|rcsb pdb:1XFX|rcsb pdb:1XFY|rcsb pdb:1XFZ|rcsb pdb:1Y6W|rcsb pdb:1YR5|rcsb pdb:1YRT|rcsb pdb:1YRU|rcsb pdb:1ZOT|rcsb pdb:1ZUZ|rcsb pdb:2BE6|rcsb pdb:1NKF|rcsb pdb:2F3Y|rcsb pdb:2F3Z|rcsb pdb:2Y4V|rcsb pdb:3DVE|rcsb pdb:3DVJ|rcsb pdb:3DVK|rcsb pdb:3DVM|rcsb pdb:3EWT|rcsb pdb:3EWV|rcsb pdb:3G43|rcsb pdb:3HR4|rcsb pdb:3J41|rcsb pdb:3O77|rcsb pdb:3O78|rcsb pdb:3OXQ|rcsb pdb:3SUI|rcsb pdb:3UCT|rcsb pdb:3UCW|rcsb pdb:3UCY|rcsb pdb:4BW7|rcsb pdb:4BW8|rcsb pdb:4BYF|rcsb pdb:4DCK|rcsb pdb:4DJC|rcsb pdb:4GOW|rcsb pdb:4JPZ|rcsb pdb:4JQ0|rcsb pdb:4L79|rcsb pdb:4LZX|rcsb pdb:4M1L|rcsb pdb:4OVN|rcsb pdb:4Q57|rcsb pdb:4Q5U|rcsb pdb:4UMO|rcsb pdb:4UPU|rcsb pdb:4V0C|rcsb pdb:5COC|rcsb pdb:3BYA|rcsb pdb:5DBR|rcsb pdb:5DOW|rcsb pdb:5DSU|rcsb pdb:5GGM|rcsb pdb:5I0I|rcsb pdb:5J03|rcsb pdb:5J8H|rcsb pdb:5JQA|rcsb pdb:5JTH|rcsb pdb:5K7L|rcsb pdb:5K8Q|rcsb pdb:5OEO|rcsb pdb:5TP5|rcsb pdb:5TP6|rcsb pdb:5V02|rcsb pdb:5V03|rcsb pdb:5V7X|rcsb pdb:5WBX|rcsb pdb:5WC5|rcsb pdb:6B8L|rcsb pdb:6B8M|rcsb pdb:6B8N|rcsb pdb:6B8P|rcsb pdb:6B8Q|rcsb pdb:6BUT|rcsb pdb:6C1D|rcsb pdb:6C1G|rcsb pdb:6C1H|rcsb pdb:6CNM|rcsb pdb:6CNN|rcsb pdb:6CNO|rcsb pdb:6DAD|rcsb pdb:6DAE|rcsb pdb:6DAF|rcsb pdb:6DAH|rcsb pdb:6E2F|rcsb pdb:6E2G|rcsb pdb:6EEB|rcsb pdb:6FEG|rcsb pdb:6FEH|rcsb pdb:6GDK|rcsb pdb:6GDL|rcsb pdb:6HCS|rcsb pdb:6HR1|rcsb pdb:6JI8|rcsb pdb:6JII|rcsb pdb:6JIU|rcsb pdb:6JIY|rcsb pdb:6JRS|rcsb pdb:6JV2|rcsb pdb:6K4K|rcsb pdb:6K4L|rcsb pdb:6K4R|rcsb pdb:6M2W|rcsb pdb:6M7H|rcsb pdb:6MUD|rcsb pdb:6MUE|rcsb pdb:6N5W|rcsb pdb:6O5G|rcsb pdb:6OS4|rcsb pdb:6PAW|rcsb pdb:6PBX|rcsb pdb:6PBY|rcsb pdb:6U39|rcsb pdb:6U3A|rcsb pdb:6U3B|rcsb pdb:6U3D|rcsb pdb:6UZZ|rcsb pdb:6V00|rcsb pdb:6V01|rcsb pdb:6X32|rcsb pdb:6X33|rcsb pdb:6X35|rcsb pdb:6X36|rcsb pdb:6XXX|rcsb pdb:6XY3|rcsb pdb:6XYR|rcsb pdb:6Y4P|rcsb pdb:6Y94|rcsb pdb:6Y95|rcsb pdb:6YNS|rcsb pdb:6YNU|rcsb pdb:6ZBI|rcsb pdb:7KL5|reactome:R-HSA-111932|reactome:R-HSA-111933|reactome:R-HSA-111957|reactome:R-HSA-111997|reactome:R-HSA-114608|reactome:R-HSA-1445148|reactome:R-HSA-442982|reactome:R-HSA-445355|reactome:R-HSA-451308|reactome:R-HSA-1474151|reactome:R-HSA-5210891|reactome:R-HSA-5218920|reactome:R-HSA-5218921|reactome:R-HSA-163615|reactome:R-HSA-180024|reactome:R-HSA-5576892|reactome:R-HSA-1855204|reactome:R-HSA-2025928|reactome:R-HSA-5578775|reactome:R-HSA-5607763|reactome:R-HSA-5626467|reactome:R-HSA-5627123|reactome:R-HSA-203615|reactome:R-HSA-2151201|reactome:R-HSA-2514859|reactome:R-HSA-5673000|reactome:R-HSA-2672351|reactome:R-HSA-5673001|reactome:R-HSA-6802946|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-2871809|reactome:R-HSA-4086398|reactome:R-HSA-70221|reactome:R-HSA-8876725|reactome:R-HSA-9009391|reactome:R-HSA-418359|reactome:R-HSA-425561|reactome:R-HSA-438066|reactome:R-HSA-442720|reactome:R-HSA-9022535|reactome:R-HSA-9022692|reactome:R-HSA-936837|reactome:R-HSA-9617324|reactome:R-HSA-9619229|reactome:R-HSA-9619483|reactome:R-HSA-9620244|reactome:R-HSA-9648002|reactome:R-HSA-9649948|reactome:R-HSA-9656223|reactome:R-HSA-9664323|reactome:R-HSA-983695|reactome:R-HSA-442729|refseq:NP_001316851.1|refseq:NP_001734.1|refseq:NP_005175.2|refseq:NP_008819.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:tTYcOd9bOh211njZVz7cYVybAMQ9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62158 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-397435|uniprotkb:P02593|uniprotkb:P70667|uniprotkb:P99014|uniprotkb:Q13942|uniprotkb:Q53S29|uniprotkb:Q61379|uniprotkb:Q61380|uniprotkb:Q96HK3|uniprotkb:P0DP25|uniprotkb:P0DP24|uniprotkb:P0DP23 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:calm_human(display_long)|uniprotkb:CALM1(gene name)|psi-mi:CALM1(display_short)|uniprotkb:CALM(gene name synonym)|uniprotkb:CAM(gene name synonym)|uniprotkb:CAM1(gene name synonym)|uniprotkb:CALM2(gene name)|psi-mi:CALM2(display_short)|uniprotkb:CAMB(gene name synonym)|uniprotkb:CALM3(gene name)|psi-mi:CALM3(display_short)|uniprotkb:CAM3(gene name synonym)|uniprotkb:CAMC(gene name synonym)|uniprotkb:CAMIII(gene name synonym)|uniprotkb:CAM2(gene name synonym)|uniprotkb:CALML2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:3SUI|rcsb pdb:2LGF|rcsb pdb:2LQC|rcsb pdb:2LQP|rcsb pdb:2Y4V|rcsb pdb:4JQ0|rcsb pdb:4LZX|rcsb pdb:4M1L|go:"GO:0010800"(positive regulation of peptidyl-threonine phosphorylation)|rcsb pdb:3J41|rcsb pdb:2LL6|go:"GO:0002027"(regulation of heart rate)|go:"GO:0005513"(detection of calcium ion)|go:"GO:0010881"(regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion)|go:"GO:0030017"(sarcomere)|go:"GO:0030801"(obsolete positive regulation of cyclic nucleotide metabolic process)|go:"GO:0032516"(positive regulation of phosphoprotein phosphatase activity)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0051343"(positive regulation of cyclic-nucleotide phosphodiesterase activity)|go:"GO:0072542"(protein phosphatase activator activity)|go:"GO:1901844"(regulation of cell communication by electrical coupling involved in cardiac conduction)|rcsb pdb:2LV6|rcsb pdb:2N6A|refseq:NP_001734.1|refseq:NP_005175.2|refseq:NP_008819.1|interpro:IPR011992(EF-Hand type)|interpro:IPR018247|interpro:IPR002048(Calcium-binding EF-hand)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0005876"(spindle microtubule)|go:"GO:0000922"(spindle pole)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005980"(glycogen catabolic process)|go:"GO:0006936"(muscle contraction)|go:"GO:0060315"(negative regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0002576"(platelet degranulation)|go:"GO:0060316"(positive regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0032465"(regulation of cytokinesis)|go:"GO:0050999"(regulation of nitric-oxide synthase activity)|rcsb pdb:1AJI|rcsb pdb:1CDL|rcsb pdb:1CLL|rcsb pdb:1CTR|rcsb pdb:1IWQ|rcsb pdb:1J7O|rcsb pdb:1J7P|rcsb pdb:1K90|rcsb pdb:1K93|rcsb pdb:1L7Z|rcsb pdb:1LVC|rcsb pdb:1NKF|rcsb pdb:1PK0|rcsb pdb:1S26|rcsb pdb:1SK6|rcsb pdb:1SW8|rcsb pdb:1WRZ|rcsb pdb:1XFU|rcsb pdb:1XFV|rcsb pdb:1XFW|rcsb pdb:1XFX|rcsb pdb:1XFY|rcsb pdb:1XFZ|rcsb pdb:1Y6W|rcsb pdb:1YR5|rcsb pdb:1YRT|rcsb pdb:1YRU|rcsb pdb:1ZOT|rcsb pdb:1ZUZ|rcsb pdb:2BE6|rcsb pdb:2F3Y|rcsb pdb:2F3Z|rcsb pdb:2HF5|rcsb pdb:2I08|rcsb pdb:2JZI|rcsb pdb:2K0E|rcsb pdb:2K0F|rcsb pdb:2K0J|rcsb pdb:2K61|rcsb pdb:2KNE|rcsb pdb:2KUG|rcsb pdb:2KUH|rcsb pdb:2L53|rcsb pdb:2L7L|rcsb pdb:2R28|rcsb pdb:2V01|rcsb pdb:2V02|rcsb pdb:2VAY|rcsb pdb:2W73|rcsb pdb:2WEL|rcsb pdb:2X0G|rcsb pdb:3BYA|rcsb pdb:3DVE|rcsb pdb:3DVJ|rcsb pdb:3DVK|rcsb pdb:3DVM|rcsb pdb:3EWT|rcsb pdb:3EWV|rcsb pdb:3G43|rcsb pdb:3HR4|rcsb pdb:3O77|rcsb pdb:3O78|rcsb pdb:3OXQ|rcsb pdb:3UCT|rcsb pdb:3UCW|rcsb pdb:3UCY|rcsb pdb:4DCK|go:"GO:0010801"(negative regulation of peptidyl-threonine phosphorylation)|go:"GO:0019901"(protein kinase binding)|go:"GO:0031954"(positive regulation of protein autophosphorylation)|go:"GO:0043539"(protein serine/threonine kinase activator activity)|go:"GO:0071902"(positive regulation of protein serine/threonine kinase activity)|go:"GO:0000165"(MAPK cascade)|rcsb pdb:2M0J|rcsb pdb:2M0K|rcsb pdb:4UMO|rcsb pdb:4V0C|go:"GO:0031982"(vesicle)|rcsb pdb:4Q5U|rcsb pdb:4UPU|reactome:R-HSA-2672351|reactome:R-HSA-418359|reactome:R-HSA-425561|reactome:R-HSA-5576892|reactome:R-HSA-5578775|reactome:R-HSA-936837|refseq:NP_001292555.1|rcsb pdb:4OVN|rcsb pdb:5COC|go:"GO:0021762"(substantia nigra development)|go:"GO:0070062"(extracellular exosome)|rcsb pdb:4BW7|rcsb pdb:4BW8|rcsb pdb:4L79|rcsb pdb:5DBR|rcsb pdb:4DJC|rcsb pdb:2M55|rcsb pdb:2LL7|go:"GO:0019855"(calcium channel inhibitor activity)|go:"GO:0001975"(response to amphetamine)|go:"GO:0007190"(activation of adenylate cyclase activity)|go:"GO:0030235"(nitric-oxide synthase regulator activity)|go:"GO:0030426"(growth cone)|go:"GO:0051000"(positive regulation of nitric-oxide synthase activity)|go:"GO:0051412"(response to corticosterone)|go:"GO:1901841"(regulation of high voltage-gated calcium channel activity)|rcsb pdb:2N77|go:"GO:0032991"(protein-containing complex)|go:"GO:0006479"(protein methylation)|go:"GO:0014069"(postsynaptic density)|rcsb pdb:5DSU|reactome:R-HSA-8876725|rcsb pdb:4GOW|rcsb pdb:4Q57|go:"GO:0043647"(inositol phosphate metabolic process)|go:"GO:0022400"(regulation of rhodopsin mediated signaling pathway)|go:"GO:0038095"(Fc-epsilon receptor signaling pathway)|go:"GO:0005576"(extracellular region)|go:"GO:0005737"(cytoplasm)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0010880"(regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031432"(titin binding)|go:"GO:0031996"(thioesterase binding)|go:"GO:0031997"(N-terminal myristoylation domain binding)|go:"GO:0043274"(phospholipase binding)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0051592"(response to calcium ion)|go:"GO:0055117"(regulation of cardiac muscle contraction)|rcsb pdb:2MG5|go:"GO:0005088"|go:"GO:0007223"(Wnt signaling pathway, calcium modulating pathway)|go:"GO:0008440"(inositol-1,4,5-trisphosphate 3-kinase activity)|go:"GO:0015276"(ligand-gated ion channel activity)|go:"GO:0005634"(nucleus)|rcsb pdb:4JPZ|ensembl:ENST00000272298|ensembl:ENST00000291295|ensembl:ENST00000356978|ensembl:ENST00000596362|refseq:NP_001292553.1|refseq:NP_001292554.1|rcsb pdb:4BYF|reactome:R-HSA-111932|reactome:R-HSA-111933|reactome:R-HSA-111957|reactome:R-HSA-111997|reactome:R-HSA-114608|reactome:R-HSA-1445148|reactome:R-HSA-1474151|reactome:R-HSA-180024|reactome:R-HSA-1855204|reactome:R-HSA-203615|reactome:R-HSA-2514859|reactome:R-HSA-2871809|reactome:R-HSA-4086398|reactome:R-HSA-442717|reactome:R-HSA-442729|reactome:R-HSA-442745|reactome:R-HSA-442982|reactome:R-HSA-445355|reactome:R-HSA-451308|reactome:R-HSA-5218920|reactome:R-HSA-5218921|reactome:R-HSA-5607763|reactome:R-HSA-5626467|reactome:R-HSA-5627123|reactome:R-HSA-5673001|reactome:R-HSA-70221|reactome:R-HSA-983695|ensembl:ENSG00000143933|ensembl:ENSG00000160014|ensembl:ENSG00000198668|ensembl:ENSP00000272298|ensembl:ENSP00000291295|ensembl:ENSP00000349467|ensembl:ENSP00000472141|rcsb pdb:5NIN|rcsb pdb:5VMS|rcsb pdb:5WSU|rcsb pdb:5WSV|rcsb pdb:6U39|rcsb pdb:6U3A|rcsb pdb:6U3B|rcsb pdb:6U3D|rcsb pdb:2N8J|rcsb pdb:5GGM|rcsb pdb:5J8H|reactome:R-HSA-163615|reactome:R-HSA-5210891|refseq:NP_001316851.1|refseq:NP_001316852.1|refseq:NP_001316853.1|refseq:NP_001316854.1|refseq:NP_001316855.1|rcsb pdb:2N27|rcsb pdb:5DOW|rcsb pdb:5I0I|rcsb pdb:5J03|rcsb pdb:5K7L|rcsb pdb:5K8Q|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0000086"(G2/M transition of mitotic cell cycle)|go:"GO:0043388"(positive regulation of DNA binding)|dip:DIP-31794N|rcsb pdb:1UP5|rcsb pdb:5JQA|rcsb pdb:5JTH|rcsb pdb:5OEO|rcsb pdb:5TP5|rcsb pdb:5TP6|rcsb pdb:5V02|rcsb pdb:5V03|rcsb pdb:5V7X|rcsb pdb:5WBX|rcsb pdb:5WC5|rcsb pdb:6B8L|rcsb pdb:6B8M|rcsb pdb:6B8N|rcsb pdb:6B8P|rcsb pdb:6B8Q|rcsb pdb:6C1D|rcsb pdb:6C1G|rcsb pdb:6C1H|rcsb pdb:6CNM|rcsb pdb:6CNN|rcsb pdb:6CNO|rcsb pdb:6FEG|rcsb pdb:6FEH|reactome:R-HSA-2025928|reactome:R-HSA-2151201|go:"GO:0034704"(calcium channel complex)|go:"GO:0010856"(adenylate cyclase activator activity)|go:"GO:0051186"(obsolete cofactor metabolic process)|go:"GO:0075206"(obsolete positive regulation by host of symbiont cAMP-mediated signal transduction)|go:"GO:0060314"(regulation of ryanodine-sensitive calcium-release channel activity)|interpro:IPR039030|go:"GO:1902494"(catalytic complex)|go:"GO:0043234"|go:"GO:0008179"(adenylate cyclase binding)|go:"GO:0097718"(disordered domain specific binding)|go:"GO:0030819"(obsolete positive regulation of cAMP biosynthetic process)|rcsb pdb:6BUT|rcsb pdb:6DAD|rcsb pdb:6DAE|rcsb pdb:6DAF|rcsb pdb:6DAH|rcsb pdb:6E2F|rcsb pdb:6E2G|rcsb pdb:6EEB|rcsb pdb:6GDK|rcsb pdb:6GDL|rcsb pdb:6HCS|rcsb pdb:6JI8|rcsb pdb:6JII|rcsb pdb:6JIU|rcsb pdb:6JIY|rcsb pdb:6JRS|rcsb pdb:6JV2|rcsb pdb:6K4K|rcsb pdb:6K4L|rcsb pdb:6K4R|rcsb pdb:6MUD|rcsb pdb:6MUE|rcsb pdb:6N5W|rcsb pdb:6O5G|reactome:R-HSA-438066|reactome:R-HSA-442720|reactome:R-HSA-5673000|reactome:R-HSA-6802946|reactome:R-HSA-6802949|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-9009391|reactome:R-HSA-9022535|reactome:R-HSA-9022692|reactome:R-HSA-9617324|reactome:R-HSA-9619229|reactome:R-HSA-9619483|reactome:R-HSA-9620244|go:"GO:0019722"(calcium-mediated signaling)|rcsb pdb:6PBX|rcsb pdb:6PBY|reactome:R-HSA-9649948|go:"GO:0005623"(obsolete cell)|rcsb pdb:6HR1|rcsb pdb:6OS4|rcsb pdb:6Y4P|rcsb pdb:6Y94|rcsb pdb:6Y95|reactome:R-HSA-9664323|go:"GO:0030234"(enzyme regulator activity)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0016032"(viral process)|rcsb pdb:6M7H|rcsb pdb:6UZZ|rcsb pdb:6V00|rcsb pdb:6V01|rcsb pdb:6PLM|rcsb pdb:6S5T|rcsb pdb:6SZ5|rcsb pdb:6XXF|rcsb pdb:6Y4O intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:tTYcOd9bOh211njZVz7cYVybAMQ9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14764 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2816254|uniprotkb:Q9BPW6|uniprotkb:Q9BQT1|uniprotkb:Q96BG4|uniprotkb:Q9UBD1|intact:EBI-28971732|ensembl:ENSP00000349977|ensembl:ENSP00000378760 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mvp_human(display_long)|uniprotkb:MVP(gene name)|psi-mi:MVP(display_short)|uniprotkb:LRP(gene name synonym)|uniprotkb:Lung resistance-related protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000349977|ensembl:ENSP00000378760|refseq:NP_001280133.1|refseq:NP_001280134.1|refseq:NP_005106.2|refseq:NP_059447.2|ensembl:ENSG00000013364(gene)|ensembl:ENST00000357402(transcript)|ensembl:ENST00000395353(transcript)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005643"(nuclear pore)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0015031"(protein transport)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0031953"(negative regulation of protein autophosphorylation)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0038127"(ERBB signaling pathway)|go:"GO:0042059"(negative regulation of epidermal growth factor receptor signaling pathway)|go:"GO:0042802"(identical protein binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051028"(mRNA transport)|go:"GO:0061099"(negative regulation of protein tyrosine kinase activity)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR002499(Major vault protein, N-terminal)|interpro:IPR021870|interpro:IPR036013|interpro:IPR039059|interpro:IPR040989|interpro:IPR041134|interpro:IPR041136|interpro:IPR041139|interpro:IPR043023|interpro:IPR043179|mint:Q14764|rcsb pdb:1Y7X|reactome:R-HSA-6798695 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:z/Hc6TeTzO5QSpZ8AUXiI2ox4eg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68104 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352162|uniprotkb:P04719|uniprotkb:P04720|intact:EBI-2834776|intact:EBI-8011754|intact:MINT-4903558|uniprotkb:Q6IQ15|ensembl:ENSP00000330054|ensembl:ENSP00000339053|ensembl:ENSP00000339063|ensembl:ENSP00000348651|ensembl:ENSP00000392366|ensembl:ENSP00000479055|ensembl:ENSP00000503192|ensembl:ENSP00000503249|ensembl:ENSP00000503823|ensembl:ENSP00000504335|intact:EBI-16423274 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ef1a1_human(display_long)|uniprotkb:EEF1A1(gene name)|psi-mi:EEF1A1(display_short)|uniprotkb:EEF1A(gene name synonym)|uniprotkb:EF1A(gene name synonym)|uniprotkb:LENG7(gene name synonym)|uniprotkb:Eukaryotic elongation factor 1 A-1(gene name synonym)|uniprotkb:Elongation factor Tu(gene name synonym)|uniprotkb:Leukocyte receptor cluster member 7(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011533816.1|ensembl:ENSG00000156508(gene)|ensembl:ENST00000309268(transcript)|ensembl:ENST00000316292(transcript)|ensembl:ENST00000331523(transcript)|ensembl:ENST00000356303(transcript)|ensembl:ENST00000455918(transcript)|ensembl:ENST00000615060(transcript)|ensembl:ENST00000676710(transcript)|ensembl:ENST00000677236(transcript)|ensembl:ENST00000678508(transcript)|ensembl:ENST00000678702(transcript)|go:"GO:0000049"(tRNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003746"(translation elongation factor activity)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005615"(extracellular space)|go:"GO:0005829"(cytosol)|go:"GO:0005853"(eukaryotic translation elongation factor 1 complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0006412"(translation)|go:"GO:0006414"(translational elongation)|go:"GO:0016020"(membrane)|go:"GO:0019900"(kinase binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0032587"(ruffle membrane)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071364"(cellular response to epidermal growth factor stimulus)|go:"GO:0098574"(cytoplasmic side of lysosomal membrane)|go:"GO:1900022"(regulation of D-erythro-sphingosine kinase activity)|go:"GO:1904714"(regulation of chaperone-mediated autophagy)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR000795(Protein synthesis factor, GTP-binding)|interpro:IPR004160(Translation elongation factor EFTu/EF1A, C-terminal)|interpro:IPR004161(Translation elongation factor EFTu/EF1A, domain 2)|interpro:IPR004539(Translation elongation factor EF1A, eukaryotic and archaeal)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR009001(Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal)|interpro:IPR027417|interpro:IPR031157|mint:P68104|rcsb pdb:1SYW|rcsb pdb:3C5J|rcsb pdb:6ZMO|reactome:R-HSA-156842|reactome:R-HSA-156902|reactome:R-HSA-3371511|reactome:R-HSA-6798695|reactome:R-HSA-8876725|reactome:R-HSA-9613829|dip:DIP-31277N|refseq:NP_001393.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:d3REF87FDKboAjyvlJJEXtqhrcw9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68371 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351356|uniprotkb:P05217|uniprotkb:A2BFA2|ensembl:ENSP00000341289 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb4b_human(display_long)|uniprotkb:TUBB4B(gene name)|psi-mi:TUBB4B(display_short)|uniprotkb:TUBB2C(gene name synonym)|uniprotkb:Tubulin beta-2 chain(gene name synonym)|uniprotkb:Tubulin beta-2C chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006079.1|ensembl:ENSG00000188229(gene)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005874"(microtubule)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0042267"(natural killer cell mediated cytotoxicity)|go:"GO:0042288"(MHC class I protein binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903561"(extracellular vesicle)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|go:"GO:0005200"(structural constituent of cytoskeleton)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P68371|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-2565942|reactome:R-HSA-3371497|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620912|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6798695|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8854518|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|ensembl:ENST00000340384(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0003725"(double-stranded RNA binding) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4LwMs7E7eILMjB9Z/1bstAp22CY9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P36578 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-348313|ensembl:ENSP00000311430|uniprotkb:P39029|uniprotkb:Q4VBR0|uniprotkb:Q969Z9|uniprotkb:A8K502 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl4_human(display_long)|uniprotkb:RPL4(gene name)|psi-mi:RPL4(display_short)|uniprotkb:RPL1(gene name synonym)|uniprotkb:60S ribosomal protein L1(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000174444(gene)|ensembl:ENST00000307961(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR002136(Ribosomal protein L4/L1e)|interpro:IPR013000(Ribosomal protein L4/L1e, eukaryotic/archaeal, conserved site)|interpro:IPR025755|mint:P36578|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A8L|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|interpro:IPR023574|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6OM0|refseq:NP_000959.2|dip:DIP-27559N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:34il/jyrW0Dqj0eA8GBFgUk05XU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H3K6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1642537|uniprotkb:A1L454|uniprotkb:A7YDY3|ensembl:ENSP00000331127|ensembl:ENSP00000498355 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:bola2_human(display_long)|uniprotkb:BOLA2(gene name)|psi-mi:BOLA2(display_short)|uniprotkb:BOLA2B(gene name)|psi-mi:BOLA2B(display_short)|uniprotkb:BOLA2A(gene name synonym)|uniprotkb:My016(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001026997.1|refseq:NP_001034271.1|refseq:NP_001307508.1|refseq:XP_016855107.1|ensembl:ENSG00000169627(gene)|ensembl:ENSG00000183336(gene)|ensembl:ENST00000330978(transcript)|ensembl:ENST00000651894(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006879"(cellular iron ion homeostasis)|go:"GO:0044571"([2Fe-2S] cluster assembly)|go:"GO:0051536"(iron-sulfur cluster binding)|go:"GO:0097428"(protein maturation by iron-sulfur cluster transfer)|interpro:IPR002634(BolA-like protein)|interpro:IPR036065|mint:Q9H3K6|reactome:R-HSA-8950505 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5TcFdmQcwx5trexmXkWp9Arn5zE9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14839 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-372916|uniprotkb:Q8IXZ5|intact:EBI-28978241|ensembl:ENSP00000440542 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:chd4_human(display_long)|uniprotkb:CHD4(gene name)|psi-mi:CHD4(display_short)|uniprotkb:ATP-dependent helicase CHD4(gene name synonym)|uniprotkb:Mi-2 autoantigen 218 kDa protein(gene name synonym)|uniprotkb:Mi2-beta(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000440542|ensembl:ENST00000645095|ensembl:ENSP00000496634|refseq:NP_001264.2|refseq:XP_006719021.1|refseq:NP_001284482.1|ensembl:ENSG00000111642(gene)|ensembl:ENST00000544040(transcript)|go:"GO:0000785"(chromatin)|go:"GO:0001221"(transcription coregulator binding)|go:"GO:0003677"(DNA binding)|go:"GO:0003678"(DNA helicase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0008270"(zinc ion binding)|go:"GO:0016020"(membrane)|go:"GO:0016581"(NuRD complex)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043044"|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070615"|go:"GO:0090575"(RNA polymerase II transcription regulator complex)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR000330(SNF2-related)|interpro:IPR000953(Chromo domain)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR001965(Zinc finger, PHD-type)|interpro:IPR002464(DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site)|interpro:IPR009462(Protein of unknown function DUF1086)|interpro:IPR009463(Protein of unknown function DUF1087)|interpro:IPR011011(Zinc finger, FYVE/PHD-type)|interpro:IPR012957(CHD, C-terminal 2)|interpro:IPR012958(CHD, N-terminal)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR016197(Chromo domain-like)|interpro:IPR019786|interpro:IPR019787|interpro:IPR023780|interpro:IPR027417|interpro:IPR038718|mint:Q14839|rcsb pdb:1MM2|rcsb pdb:1MM3|rcsb pdb:2EE1|rcsb pdb:2L5U|rcsb pdb:2L75|rcsb pdb:2N5N|rcsb pdb:4O9I|rcsb pdb:6BGG|rcsb pdb:6Q3M|rcsb pdb:6RYR|rcsb pdb:6RYU|reactome:R-HSA-3214815|reactome:R-HSA-427389|reactome:R-HSA-6804758|reactome:R-HSA-73762|reactome:R-HSA-8943724|reactome:R-HSA-9031628|reactome:R-HSA-9679191|dip:DIP-31183N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:E9eHT/41SIFRiz54J81hvPQeHIE9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15143 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1044647|uniprotkb:Q9BU00|ensembl:ENSP00000388802|ensembl:ENSP00000389631|ensembl:ENSP00000398110|ensembl:ENSP00000403211|ensembl:ENSP00000410238|ensembl:ENSP00000494033|ensembl:ENSP00000496599 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arc1b_human(display_long)|uniprotkb:Arp2/3 complex 41 kDa subunit(gene name synonym)|uniprotkb:p41-ARC(gene name synonym)|uniprotkb:ARPC1B(gene name)|psi-mi:ARPC1B(display_short)|uniprotkb:ARC41(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005711.1|ensembl:ENSG00000130429(gene)|ensembl:ENST00000427217(transcript)|ensembl:ENST00000431816(transcript)|ensembl:ENST00000451682(transcript)|ensembl:ENST00000455009(transcript)|ensembl:ENST00000458033(transcript)|ensembl:ENST00000645391(transcript)|ensembl:ENST00000646101(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0032355"(response to estradiol)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0036284"(tubulobulbar complex)|go:"GO:0043627"(response to estrogen)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR017383(Actin-related protein 2/3 complex, subunit 1)|interpro:IPR030141|interpro:IPR036322|mint:O15143|rcsb pdb:6UHC|rcsb pdb:6YW6|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-9664422|refseq:XP_006715888.1|refseq:XP_006715889.1|dip:DIP-41254N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:sx7R5hirSnqoXyOlW6ltrpNjUIs9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13547 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-301834|uniprotkb:Q92534|ensembl:ENSP00000362649 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hdac1_human(display_long)|uniprotkb:HDAC1(gene name)|psi-mi:HDAC1(display_short)|uniprotkb:RPD3L1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000116478(gene)|ensembl:ENST00000373548(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000792"(heterochromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000979"(RNA polymerase II core promoter sequence-specific DNA binding)|go:"GO:0001046"(core promoter sequence-specific DNA binding)|go:"GO:0001975"(response to amphetamine)|go:"GO:0002039"(p53 binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0004407"(histone deacetylase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006325"(chromatin organization)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006346"(DNA methylation-dependent heterochromatin assembly)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006476"(protein deacetylation)|go:"GO:0007492"(endoderm development)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0009913"(epidermal cell differentiation)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016575"(histone deacetylation)|go:"GO:0016580"(Sin3 complex)|go:"GO:0016581"(NuRD complex)|go:"GO:0019899"(enzyme binding)|go:"GO:0021766"(hippocampus development)|go:"GO:0030182"(neuron differentiation)|go:"GO:0031000"(response to caffeine)|go:"GO:0032041"("NAD-dependent histone deacetylase activity (H3-K14 specific)")|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032732"(positive regulation of interleukin-1 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033558"(protein deacetylase activity)|go:"GO:0034599"(cellular response to oxidative stress)|go:"GO:0035851"(Krueppel-associated box domain binding)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0042493"|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042733"(embryonic digit morphogenesis)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043044"|go:"GO:0019213"(deacetylase activity)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070888"(E-box binding)|go:"GO:0070932"(histone H3 deacetylation)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:0071356"(cellular response to tumor necrosis factor)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1900221"(regulation of amyloid-beta clearance)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:2000273"(positive regulation of signaling receptor activity)|go:"GO:2000343"("positive regulation of chemokine (C-X-C motif) ligand 2 production")|go:"GO:2000676"(positive regulation of type B pancreatic cell apoptotic process)|go:"GO:2000757"(negative regulation of peptidyl-lysine acetylation)|go:"GO:2001243"(negative regulation of intrinsic apoptotic signaling pathway)|interpro:IPR000286(Histone deacetylase superfamily)|interpro:IPR003084(Histone deacetylase)|interpro:IPR023696|interpro:IPR023801|interpro:IPR037138|mint:Q13547|rcsb pdb:1TYI|rcsb pdb:4BKX|rcsb pdb:5ICN|rcsb pdb:6Z2J|rcsb pdb:6Z2K|rcsb pdb:7AO8|rcsb pdb:7AO9|rcsb pdb:7AOA|reactome:R-HSA-1362277|reactome:R-HSA-1362300|reactome:R-HSA-1538133|reactome:R-HSA-193670|reactome:R-HSA-201722|reactome:R-HSA-2122947|reactome:R-HSA-2173795|reactome:R-HSA-2173796|reactome:R-HSA-2644606|reactome:R-HSA-2894862|reactome:R-HSA-3214815|reactome:R-HSA-350054|reactome:R-HSA-3769402|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-4551638|reactome:R-HSA-4641265|reactome:R-HSA-6804758|reactome:R-HSA-69205|reactome:R-HSA-73762|reactome:R-HSA-8936459|reactome:R-HSA-8943724|reactome:R-HSA-9018519|reactome:R-HSA-9022538|reactome:R-HSA-9022692|go:"GO:0017053"(transcription repressor complex)|go:"GO:0043066"(negative regulation of apoptotic process)|reactome:R-HSA-9022699|reactome:R-HSA-9022702|reactome:R-HSA-9615017|reactome:R-HSA-9679191|reactome:R-HSA-983231|go:"GO:0043524"(negative regulation of neuron apoptotic process)|go:"GO:0043922"(negative regulation by host of viral transcription)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046676"(negative regulation of insulin secretion)|go:"GO:0047485"(protein N-terminus binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0052548"(regulation of endopeptidase activity)|go:"GO:0055093"(response to hyperoxia)|go:"GO:0060766"(negative regulation of androgen receptor signaling pathway)|go:"GO:0060789"(hair follicle placode formation)|go:"GO:0061029"(eyelid development in camera-type eye)|go:"GO:0061198"(fungiform papilla formation)|go:"GO:0043124"(negative regulation of I-kappaB kinase/NF-kappaB signaling)|refseq:NP_004955.2|dip:DIP-24184N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:RP+yIBWH55NgoPTY1nKXqeJL/xY9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EVX8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25631241|ensembl:ENSP00000375635|ensembl:ENSP00000479035 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7evx8_human(display_long)|uniprotkb:PRPF31(gene name)|psi-mi:PRPF31(display_short)|uniprotkb:U4/U6 small nuclear ribonucleoprotein Prp31(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000105618(gene)|ensembl:ENSG00000275885(gene)|ensembl:ENST00000391755(transcript)|ensembl:ENST00000616532(transcript)|go:"GO:0000244"(spliceosomal tri-snRNP complex assembly)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0015030"(Cajal body)|go:"GO:0046540"(U4/U6 x U5 tri-snRNP complex)|interpro:IPR002687(Pre-mRNA processing ribonucleoprotein, binding region)|interpro:IPR012976(NOSIC)|interpro:IPR019175|interpro:IPR027105|interpro:IPR036070|interpro:IPR042239 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:r8cb1ChKZCoIXQDCTL5OWoWKens9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13185 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-78176|ensembl:ENSP00000336687|ensembl:ENSP00000379670|uniprotkb:Q96CD7|uniprotkb:Q99409|uniprotkb:Q9BVS3|uniprotkb:Q9P0Z6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cbx3_human(display_long)|uniprotkb:CBX3(gene name)|psi-mi:CBX3(display_short)|uniprotkb:Heterochromatin protein 1 homolog gamma(gene name synonym)|uniprotkb:Modifier 2 protein(gene name synonym)|uniprotkb:HECH(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0000791"(euchromatin)|go:"GO:0000792"(heterochromatin)|go:"GO:0001221"(transcription coregulator binding)|go:"GO:0005634"(nucleus)|go:"GO:0005635"(nuclear envelope)|ensembl:ENSG00000122565(gene)|ensembl:ENST00000337620(transcript)|ensembl:ENST00000396386(transcript)|go:"GO:0000775"(chromosome, centromeric region)|go:"GO:0000779"(condensed chromosome, centromeric region)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000785"(chromatin)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005721"(pericentric heterochromatin)|go:"GO:0005819"(spindle)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0019899"(enzyme binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0048511"(rhythmic process)|go:"GO:0090575"(RNA polymerase II transcription regulator complex)|go:"GO:0090734"(site of DNA damage)|go:"GO:1990226"(histone methyltransferase binding)|interpro:IPR000953(Chromo domain)|interpro:IPR008251(Chromo shadow)|interpro:IPR016197(Chromo domain-like)|interpro:IPR017984|interpro:IPR023779|interpro:IPR023780|interpro:IPR038033|mint:Q13185|rcsb pdb:2L11|rcsb pdb:3DM1|rcsb pdb:3KUP|rcsb pdb:3TZD|go:"GO:0005637"(nuclear inner membrane)|rcsb pdb:6HW2|reactome:R-HSA-427389|reactome:R-HSA-73772|reactome:R-HSA-8953750|rcsb pdb:5T1I|refseq:NP_009207.2|refseq:NP_057671.2|refseq:XP_005249668.1|dip:DIP-5985N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6L5OQHfxCBkmPV5Z0XihmXx4mFQ9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15145 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351829|uniprotkb:O00554|ensembl:ENSP00000228825 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arpc3_human(display_long)|uniprotkb:ARPC3(gene name)|psi-mi:ARPC3(display_short)|uniprotkb:ARC21(gene name synonym)|uniprotkb:Arp2/3 complex 21 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000111229(gene)|ensembl:ENST00000228825(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0030027"(lamellipodium)|go:"GO:0031941"(filamentous actin)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0061850"(growth cone leading edge)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070358"(actin polymerization-dependent cell motility)|go:"GO:1990090"(cellular response to nerve growth factor stimulus)|interpro:IPR007204(ARP2/3 complex, 21 kDa p21-Arc subunit)|interpro:IPR036753|mint:O15145|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|refseq:NP_001274151.1|refseq:NP_001265485.1|dip:DIP-33187N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:u4h1270mPo3E3GBrEurYtpUYTQM9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15750 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358643|uniprotkb:Q2PP09|intact:EBI-3959873|uniprotkb:Q8IZW2|ensembl:ENSP00000216160 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tab1_human(display_long)|uniprotkb:TAB1(gene name)|psi-mi:TAB1(display_short)|uniprotkb:MAP3K7IP1(gene name synonym)|uniprotkb:TGF-beta-activated kinase 1-binding protein 1(gene name synonym)|uniprotkb:Mitogen-activated protein kinase kinase kinase 7-interacting protein 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006107.1|refseq:NP_705717.1|ensembl:ENSP00000216160|ensembl:ENST00000331454|ensembl:ENSP00000333049|go:"GO:0003279"(cardiac septum development)|rcsb pdb:7NTI|go:"GO:0003007"(heart morphogenesis)|ensembl:ENSG00000100324(gene)|ensembl:ENST00000216160(transcript)|go:"GO:0000185"(obsolete activation of MAPKKK activity)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007179"(transforming growth factor beta receptor signaling pathway)|go:"GO:0008047"(enzyme activator activity)|go:"GO:0010008"(endosome membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0016791"(phosphatase activity)|go:"GO:0019209"(kinase activator activity)|go:"GO:0030324"(lung development)|go:"GO:0032991"(protein-containing complex)|go:"GO:0035904"(aorta development)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0048273"(mitogen-activated protein kinase p38 binding)|go:"GO:0060976"(coronary vasculature development)|interpro:IPR001932(Protein phosphatase 2C-related)|interpro:IPR015655(Protein phosphatase 2C)|interpro:IPR036457|mint:Q15750|rcsb pdb:2J4O|rcsb pdb:2POM|rcsb pdb:2POP|rcsb pdb:2YDS|rcsb pdb:2YIY|rcsb pdb:4AY5|rcsb pdb:4AY6|rcsb pdb:4GS6|rcsb pdb:4KA3|rcsb pdb:4L3P|rcsb pdb:4L52|rcsb pdb:4L53|rcsb pdb:4O91|rcsb pdb:5DIY|rcsb pdb:5E7R|rcsb pdb:5GJD|rcsb pdb:5GJF|rcsb pdb:5GJG|rcsb pdb:5J7S|rcsb pdb:5J8I|rcsb pdb:5J9L|rcsb pdb:5JGA|rcsb pdb:5JGB|rcsb pdb:5JGD|rcsb pdb:5JH6|rcsb pdb:5JK3|rcsb pdb:5NZZ|rcsb pdb:5O90|rcsb pdb:5V5N|rcsb pdb:5VVU|rcsb pdb:7NTH|reactome:R-HSA-168638|reactome:R-HSA-2871837|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5357956|reactome:R-HSA-5607764|reactome:R-HSA-5689880|reactome:R-HSA-9014325|reactome:R-HSA-9020702|reactome:R-HSA-937042|reactome:R-HSA-937072|reactome:R-HSA-9645460|reactome:R-HSA-975163|dip:DIP-27524N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:28+bzs6bpXJTun4XukxC/7oAYSs9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UKL0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-926563|uniprotkb:Q15044|uniprotkb:Q6P2I9|uniprotkb:Q86VG5|intact:EBI-11087913|uniprotkb:J3KN32|ensembl:ENSP00000262241 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rcor1_human(display_long)|uniprotkb:RCOR1(gene name)|psi-mi:RCOR1(display_short)|uniprotkb:KIAA0071(gene name synonym)|uniprotkb:RCOR(gene name synonym)|uniprotkb:Protein CoREST(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_055971.2|dip:DIP-35263N|ensembl:ENSG00000089902(gene)|ensembl:ENST00000262241(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016575"(histone deacetylation)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019899"(enzyme binding)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0045654"(positive regulation of megakaryocyte differentiation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:1990391"(DNA repair complex)|interpro:IPR000949(ELM2)|interpro:IPR001005(SANT, DNA-binding)|interpro:IPR009057(Homeodomain-like)|interpro:IPR017884|interpro:IPR017930|mint:Q9UKL0|rcsb pdb:2IW5|rcsb pdb:2UXN|rcsb pdb:2UXX|rcsb pdb:2V1D|rcsb pdb:2X0L|rcsb pdb:2XAF|rcsb pdb:2XAG|rcsb pdb:2XAH|rcsb pdb:2XAJ|rcsb pdb:2XAQ|rcsb pdb:2XAS|rcsb pdb:2Y48|rcsb pdb:3ZMS|rcsb pdb:3ZMT|rcsb pdb:3ZMU|rcsb pdb:3ZMV|rcsb pdb:3ZMZ|rcsb pdb:3ZN0|rcsb pdb:3ZN1|rcsb pdb:4BAY|rcsb pdb:4KUM|rcsb pdb:4UV8|rcsb pdb:4UV9|rcsb pdb:4UVA|rcsb pdb:4UVB|rcsb pdb:4UVC|rcsb pdb:4UXN|rcsb pdb:4XBF|rcsb pdb:5H6Q|rcsb pdb:5H6R|rcsb pdb:5L3B|rcsb pdb:5L3C|rcsb pdb:5L3D|rcsb pdb:5L3E|rcsb pdb:5L3F|rcsb pdb:5L3G|rcsb pdb:5LBQ|rcsb pdb:5LGN|rcsb pdb:5LGT|rcsb pdb:5LGU|rcsb pdb:5LHG|rcsb pdb:5LHH|rcsb pdb:5LHI|rcsb pdb:5X60|rcsb pdb:5YJB|rcsb pdb:6K3E|rcsb pdb:6KGK|rcsb pdb:6KGL|rcsb pdb:6KGM|rcsb pdb:6KGN|rcsb pdb:6S35|rcsb pdb:6TE1|rcsb pdb:6VYP|rcsb pdb:6W4K|rcsb pdb:6WC6|rcsb pdb:7CDC|rcsb pdb:7CDD|rcsb pdb:7CDE|rcsb pdb:7CDF|rcsb pdb:7CDG|reactome:R-HSA-3214815|reactome:R-HSA-8943724|reactome:R-HSA-9679191|reactome:R-HSA-983231 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B1KfnjicGzKdWGnGGrZwjgpMQ309606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3QRS3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044220|ensembl:ENSP00000464359 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3qrs3_human(display_long)|uniprotkb:MYL12A(gene name)|psi-mi:MYL12A(display_short)|uniprotkb:MRCL3(gene name synonym)|uniprotkb:hCG_2045956(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000101608(gene)|ensembl:ENST00000580887(transcript)|go:"GO:0005509"(calcium ion binding)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR015070(Region of unknown function DUF1880)|interpro:IPR018247|refseq:NP_001289978.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fnNK4lFewoss1VURWAwiP4XRPqI9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11142 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351896|uniprotkb:Q9H3R6|ensembl:ENSP00000227378|ensembl:ENSP00000432083|ensembl:ENSP00000437125 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hsp7c_human(display_long)|uniprotkb:HSPA8(gene name)|psi-mi:HSPA8(display_short)|uniprotkb:HSC70(gene name synonym)|uniprotkb:HSP73(gene name synonym)|uniprotkb:HSPA10(gene name synonym)|uniprotkb:Heat shock 70 kDa protein 8(gene name synonym)|uniprotkb:Lipopolysaccharide-associated protein 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006588.1|refseq:NP_694881.1|refseq:XP_011541100.1|ensembl:ENSG00000109971(gene)|ensembl:ENST00000227378(transcript)|ensembl:ENST00000532636(transcript)|ensembl:ENST00000534624(transcript)|go:"GO:0000974"(Prp19 complex)|go:"GO:0001664"(G protein-coupled receptor binding)|go:"GO:0001786"(phosphatidylserine binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005770"(late endosome)|go:"GO:0005776"(autophagosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006397"(mRNA processing)|go:"GO:0006457"(protein folding)|go:"GO:0006986"(response to unfolded protein)|go:"GO:0008380"(RNA splicing)|go:"GO:0009267"(cellular response to starvation)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0023026"(MHC class II protein complex binding)|go:"GO:0030425"(dendrite)|go:"GO:0030674"(protein-macromolecule adaptor activity)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0031647"(regulation of protein stability)|go:"GO:0034620"(cellular response to unfolded protein)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0042026"(protein refolding)|go:"GO:0042470"(melanosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0043195"(terminal bouton)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043254"(regulation of protein-containing complex assembly)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0044829"(positive regulation by host of viral genome replication)|go:"GO:0045296"(cadherin binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0046034"(ATP metabolic process)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051085"(chaperone cofactor-dependent protein refolding)|go:"GO:0051087"(chaperone binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0051787"(misfolded protein binding)|go:"GO:0055131"(C3HC4-type RING finger domain binding)|go:"GO:0061024"(membrane organization)|go:"GO:0061202"(clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane)|go:"GO:0061635"(regulation of protein complex stability)|go:"GO:0061684"(chaperone-mediated autophagy)|go:"GO:0061738"(late endosomal microautophagy)|go:"GO:0061740"(protein targeting to lysosome involved in chaperone-mediated autophagy)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:0098575"(lumenal side of lysosomal membrane)|go:"GO:0098684"(photoreceptor ribbon synapse)|go:"GO:0098690"(glycinergic synapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099175"(regulation of postsynapse organization)|go:"GO:0099523"(presynaptic cytosol)|go:"GO:0099524"(postsynaptic cytosol)|go:"GO:0099634"(postsynaptic specialization membrane)|go:"GO:0101031"(chaperone complex)|go:"GO:0140545"(protein disaggregase activity)|go:"GO:0140597"(protein carrier chaperone)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1902904"(negative regulation of supramolecular fiber organization)|go:"GO:1904589"(regulation of protein import)|go:"GO:1904764"(chaperone-mediated autophagy translocation complex disassembly)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1990832"(slow axonal transport)|go:"GO:1990833"(clathrin-uncoating ATPase activity)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR013126(Heat shock protein 70)|interpro:IPR018181|interpro:IPR029047|interpro:IPR029048|interpro:IPR043129|mint:P11142|rcsb pdb:3AGY|rcsb pdb:3AGZ|rcsb pdb:3ESK|rcsb pdb:3FZF|rcsb pdb:3FZH|rcsb pdb:3FZK|rcsb pdb:3FZL|rcsb pdb:3FZM|rcsb pdb:3LDQ|rcsb pdb:3M3Z|rcsb pdb:4H5N|rcsb pdb:4H5R|rcsb pdb:4H5T|rcsb pdb:4H5V|rcsb pdb:4H5W|rcsb pdb:4HWI|rcsb pdb:4KBQ|rcsb pdb:5AQF|rcsb pdb:5AQG|rcsb pdb:5AQH|rcsb pdb:5AQI|rcsb pdb:5AQJ|rcsb pdb:5AQK|rcsb pdb:5AQL|rcsb pdb:5AQM|rcsb pdb:5AQN|rcsb pdb:5AQO|rcsb pdb:5AQP|rcsb pdb:5AQQ|rcsb pdb:5AQR|rcsb pdb:5AQS|rcsb pdb:5AQT|rcsb pdb:5AQU|rcsb pdb:5AQV|rcsb pdb:6B1I|rcsb pdb:6B1M|rcsb pdb:6B1N|rcsb pdb:6ZYJ|reactome:R-HSA-3371453|reactome:R-HSA-3371497|reactome:R-HSA-3371568|reactome:R-HSA-3371571|reactome:R-HSA-432720|reactome:R-HSA-432722|reactome:R-HSA-447041|reactome:R-HSA-450408|reactome:R-HSA-6785807|reactome:R-HSA-6798695|reactome:R-HSA-72163|reactome:R-HSA-8856828|reactome:R-HSA-8876725|reactome:R-HSA-888590|reactome:R-HSA-9613354|reactome:R-HSA-9613829|reactome:R-HSA-9615710|dip:DIP-32874N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0I+wYut3naJRzzgmMSax/1mZZwA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q01804 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1054396|uniprotkb:Q147U2|uniprotkb:Q1ZYK1|uniprotkb:Q6PG39|uniprotkb:Q96MQ5|uniprotkb:Q9NT94|uniprotkb:Q9UPV6|uniprotkb:B4DYS4|ensembl:ENSP00000395487 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:otud4_human(display_long)|uniprotkb:HIN-1(gene name synonym)|uniprotkb:HIV-1-induced protein HIN-1(gene name synonym)|uniprotkb:OTUD4(gene name)|psi-mi:OTUD4(display_short)|uniprotkb:KIAA1046(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_005263136.1|refseq:NP_001096123.1|refseq:NP_059963.1|ensembl:ENSG00000164164(gene)|ensembl:ENST00000447906(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0004843"(thiol-dependent deubiquitinase)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0016579"(protein deubiquitination)|go:"GO:0034122"(negative regulation of toll-like receptor signaling pathway)|go:"GO:0045087"(innate immune response)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0061578"(Lys63-specific deubiquitinase activity)|go:"GO:0070536"(protein K63-linked deubiquitination)|go:"GO:0071108"(protein K48-linked deubiquitination)|go:"GO:1901537"(positive regulation of DNA demethylation)|go:"GO:1903093"(regulation of protein K48-linked deubiquitination)|go:"GO:2000660"(negative regulation of interleukin-1-mediated signaling pathway)|interpro:IPR003323(Ovarian tumour, otubain)|interpro:IPR038765 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:humMGfho0HKWE4zhO7+G00gIJfc9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14257 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356710|uniprotkb:A8MTG6|uniprotkb:Q53XN8|ensembl:ENSP00000378349|uniprotkb:F8WCY5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rcn2_human(display_long)|uniprotkb:RCN2(gene name)|psi-mi:RCN2(display_short)|uniprotkb:ERC55(gene name synonym)|uniprotkb:Calcium-binding protein ERC-55(gene name synonym)|uniprotkb:E6-binding protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002893.1|ensembl:ENST00000394885(transcript)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|ensembl:ENSG00000117906(gene)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR018247|mint:Q14257|refseq:NP_001258766.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:99ru/7eYUvZ5xdb+x4inbib3PP89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P37275 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2849734|uniprotkb:Q12924|uniprotkb:Q5T968|uniprotkb:Q13800|uniprotkb:Q2KJ05|uniprotkb:B4DJV0|uniprotkb:B4DUW9|uniprotkb:E9PCM7|uniprotkb:F5H4I8|uniprotkb:Q5VZ84|uniprotkb:Q8NB68|intact:EBI-11153310|ensembl:ENSP00000319248 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zeb1_human(display_long)|uniprotkb:ZEB1(gene name)|psi-mi:ZEB1(display_short)|uniprotkb:AREB6(gene name synonym)|uniprotkb:TCF8(gene name synonym)|uniprotkb:NIL-2-A zinc finger protein(gene name synonym)|uniprotkb:Negative regulator of IL2(gene name synonym)|uniprotkb:Transcription factor 8(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001121600.1|refseq:NP_001167565.1|refseq:NP_001167566.1|refseq:NP_110378.3|refseq:NP_001167564.1|refseq:NP_001167567.1|ensembl:ENSG00000148516(gene)|ensembl:ENST00000320985(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007399"(nervous system development)|go:"GO:0008270"(zinc ion binding)|go:"GO:0030154"(cell differentiation)|go:"GO:0045602"(negative regulation of endothelial cell differentiation)|go:"GO:0045666"(positive regulation of neuron differentiation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0048856"(anatomical structure development)|go:"GO:0070888"(E-box binding)|interpro:IPR001356(Homeobox)|interpro:IPR008598(Drought induced 19)|interpro:IPR009057(Homeodomain-like)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|rcsb pdb:2E19|reactome:R-HSA-6785807|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2QwbT74tbgA6Jec85fGMRYg0EBI9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13045 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351549|ensembl:ENSP00000491480|ensembl:ENSP00000324573|uniprotkb:B4DIL0|uniprotkb:F5H407|uniprotkb:J3QLG3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:flii_human(display_long)|uniprotkb:FLII(gene name)|psi-mi:FLII(display_short)|uniprotkb:FLIL(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002009.1|refseq:NP_001243193.1|ensembl:ENST00000327031(transcript)|ensembl:ENST00000638207(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005903"(brush border)|go:"GO:0005925"(focal adhesion)|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030239"(myofibril assembly)|go:"GO:0034451"(centriolar satellite)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR003591(Leucine-rich repeat, typical subtype)|interpro:IPR007122(Gelsolin)|interpro:IPR007123(Gelsolin region)|interpro:IPR029006|interpro:IPR029919|interpro:IPR032675|mint:Q13045|ensembl:ENSG00000177731(gene)|ensembl:ENSG00000284571(gene)|refseq:NP_001243194.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:hzls0Ir+lr0+wNsTUeIURV3fXVQ9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96JN0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-746045|uniprotkb:Q9H945|uniprotkb:Q9Y457|ensembl:ENSP00000348298|ensembl:ENSP00000360138|ensembl:ENSP00000360144|ensembl:ENSP00000501560|ensembl:ENSP00000501639|ensembl:ENSP00000502633|intact:EBI-8833163|uniprotkb:D3DR47|uniprotkb:Q5VW16|uniprotkb:Q7Z723|uniprotkb:Q86T32|uniprotkb:Q86T33|uniprotkb:Q8N3L6|uniprotkb:Q8N655 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lcor_human(display_long)|uniprotkb:LCOR(gene name)|psi-mi:LCOR(display_short)|uniprotkb:C10orf12(gene name synonym)|uniprotkb:KIAA1795(gene name synonym)|uniprotkb:MLR2(gene name synonym)|uniprotkb:Mblk1-related protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000196233(gene)|ensembl:ENST00000356016(transcript)|ensembl:ENST00000371097(transcript)|ensembl:ENST00000371103(transcript)|ensembl:ENST00000675471(transcript)|ensembl:ENST00000675537(transcript)|ensembl:ENST00000675971(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003677"(DNA binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0030331"(estrogen receptor binding)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:1990226"(histone methyltransferase binding)|go:"GO:1990381"(ubiquitin-specific protease binding)|interpro:IPR007889(Helix-turn-helix, Psq)|interpro:IPR009057(Homeodomain-like)|mint:Q96JN0|rcsb pdb:2COB|refseq:NP_001164236.1|refseq:NP_001164237.1|refseq:NP_115816.2|refseq:XP_016872275.1|refseq:XP_016872276.1|refseq:XP_016872277.1|refseq:NP_001333445.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:cOnk6EDDff86yaG1uG+dxEQ1Z689606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PMI6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11068399|ensembl:ENSP00000434963 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pmi6_human(display_long)|uniprotkb:CLNS1A(gene name)|psi-mi:CLNS1A(display_short)|uniprotkb:Chloride conductance regulatory protein ICln(gene name synonym)|uniprotkb:Methylosome subunit pICln(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001298131.1|ensembl:ENSG00000074201(gene)|ensembl:ENST00000532069(transcript)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006821"(chloride transport)|go:"GO:0006884"(cell volume homeostasis)|go:"GO:0034709"(methylosome)|go:"GO:0034715"(pICln-Sm protein complex)|interpro:IPR003521(Nucleotide-sensitive chloride conductance regulator)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR039924 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Zu8snHJAxCmZMH7Kd7UdeRbjiUo9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35580 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351758|intact:EBI-7850240|intact:MINT-8330016|uniprotkb:B2RWP9|uniprotkb:D3DTS1|uniprotkb:Q9BWG0|uniprotkb:Q12989|uniprotkb:Q16087|uniprotkb:Q149N3|ensembl:ENSP00000269243|uniprotkb:Q149N4|uniprotkb:Q6PK16|uniprotkb:F8VTL3|uniprotkb:Q4LE45 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myh10_human(display_long)|uniprotkb:MYH10(gene name)|psi-mi:MYH10(display_short)|uniprotkb:Myosin heavy chain 10(gene name synonym)|uniprotkb:Myosin heavy chain, non-muscle IIb(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain IIb(gene name synonym)|uniprotkb:Cellular myosin heavy chain, type B(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain B(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001243024.1|refseq:NP_001242941.1|refseq:NP_005955.3|ensembl:ENSG00000133026(gene)|ensembl:ENST00000269243(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0000281"(mitotic cytokinesis)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0005938"(cell cortex)|go:"GO:0007155"(cell adhesion)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0016459"(myosin complex)|go:"GO:0016460"(myosin II complex)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0030027"(lamellipodium)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030496"(midbody)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0032154"(cleavage furrow)|go:"GO:0035613"(RNA stem-loop binding)|go:"GO:0042641"(actomyosin)|go:"GO:0043531"(ADP binding)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0050714"(positive regulation of protein secretion)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097513"(myosin II filament)|go:"GO:0098885"(modification of postsynaptic actin cytoskeleton)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002928(Myosin tail)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR008989(Myosin S1 fragment, N-terminal)|interpro:IPR027417|interpro:IPR036961|mint:P35580|rcsb pdb:4PD3|reactome:R-HSA-3928663|reactome:R-HSA-416572|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|refseq:XP_016880169.1|refseq:XP_016880170.1|refseq:XP_016880171.1|dip:DIP-31110N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iSHfJZbrWg1L+vSpu1n7RmTTNN49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y657 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-727129|uniprotkb:Q7KZJ8|uniprotkb:Q9GZT2|uniprotkb:Q9H0N7|uniprotkb:A8K0X6|uniprotkb:B3KRQ4|ensembl:ENSP00000365019 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:spin1_human(display_long)|uniprotkb:Ovarian cancer-related protein(gene name synonym)|uniprotkb:SPIN1(gene name)|psi-mi:SPIN1(display_short)|uniprotkb:OCR(gene name synonym)|uniprotkb:SPIN(gene name synonym)|uniprotkb:Spindlin1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006708.2|ensembl:ENSG00000106723(gene)|ensembl:ENST00000375859(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006325"(chromatin organization)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0007276"(gamete generation)|go:"GO:0009303"(rRNA transcription)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0030177"(positive regulation of Wnt signaling pathway)|go:"GO:0031965"(nuclear membrane)|go:"GO:0035064"(methylated histone binding)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0051321"(meiotic cell cycle)|interpro:IPR003671(Spindlin/spermiogenesis-specific protein)|interpro:IPR029565|interpro:IPR042567|mint:Q9Y657|rcsb pdb:2NS2|rcsb pdb:4H75|rcsb pdb:4MZF|rcsb pdb:4MZG|rcsb pdb:4MZH|rcsb pdb:5JSG|rcsb pdb:5JSJ|rcsb pdb:5Y5W|rcsb pdb:6I8B|rcsb pdb:6I8L|rcsb pdb:6I8Y|rcsb pdb:6QPL|rcsb pdb:7BQZ|rcsb pdb:7BU9|rcsb pdb:7CNA|dip:DIP-40062N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:OY/wCdms/yjDXj5aY2QffHXXXUY9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EQZ4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21360768|ensembl:ENSP00000422679|ensembl:ENSP00000424799|ensembl:ENSP00000477720|ensembl:ENSP00000477738|ensembl:ENSP00000478274|ensembl:ENSP00000485830|ensembl:ENSP00000486030|ensembl:ENSP00000486268|ensembl:ENSP00000486539 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7eqz4_human(display_long)|uniprotkb:SMN1(gene name)|psi-mi:SMN1(display_short)|uniprotkb:SMN2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000172062(gene)|ensembl:ENSG00000205571(gene)|ensembl:ENSG00000273772(gene)|ensembl:ENSG00000275349(gene)|ensembl:ENSG00000277773(gene)|ensembl:ENST00000506239(transcript)|ensembl:ENST00000506734(transcript)|ensembl:ENST00000610814(transcript)|ensembl:ENST00000612446(transcript)|ensembl:ENST00000612974(transcript)|ensembl:ENST00000625245(transcript)|ensembl:ENST00000628696(transcript)|ensembl:ENST00000629741(transcript)|ensembl:ENST00000631104(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005829"(cytosol)|go:"GO:0006397"(mRNA processing)|go:"GO:0008380"(RNA splicing)|go:"GO:0015030"(Cajal body)|go:"GO:0016604"(nuclear body)|interpro:IPR002999(Tudor)|interpro:IPR010304(Survival motor neuron)|refseq:XP_011541898.1|refseq:XP_011541901.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:a/2+S9gEhlSTDNUBeJOfHSKk9mg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q562R1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1773495|uniprotkb:Q562R2|uniprotkb:Q562S9|uniprotkb:Q562X8|uniprotkb:B2RPJ1|ensembl:ENSP00000416706 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actbl_human(display_long)|uniprotkb:ACTBL2(gene name)|psi-mi:ACTBL2(display_short)|uniprotkb:Kappa-actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001017992.1|ensembl:ENSG00000169067(gene)|ensembl:ENST00000423391(transcript)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005884"(actin filament)|go:"GO:0007409"(axonogenesis)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030424"(axon)|go:"GO:0035267"(NuA4 histone acetyltransferase complex)|go:"GO:0045202"(synapse)|go:"GO:0048870"(cell motility)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098973"(structural constituent of postsynaptic actin cytoskeleton)|go:"GO:0098978"(glutamatergic synapse)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:Q562R1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GTzKP5YRJGH8ocAJW0WEsdQFEdc9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H6R7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-346906|uniprotkb:D6W532|uniprotkb:Q8IYK0|uniprotkb:Q9HBP5|ensembl:ENSP00000295148 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:wdcp_human(display_long)|uniprotkb:WDCP(gene name)|psi-mi:WDCP(display_short)|uniprotkb:C2orf44(gene name synonym)|uniprotkb:PP384(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001135791.1|refseq:NP_079479.1|ensembl:ENSG00000163026(gene)|ensembl:ENST00000295148(transcript)|go:"GO:0019900"(kinase binding)|go:"GO:0051259"(protein complex oligomerization)|interpro:IPR028041|mint:Q9H6R7 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qT8Zfifj+1U5HvWjtXjKTiVj1OA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8N3V7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352936|intact:EBI-28982054|ensembl:ENSP00000377789|ensembl:ENSP00000428378|uniprotkb:O15271|uniprotkb:Q9UPX1|uniprotkb:A5PKZ8|uniprotkb:D3DQG8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:synpo_human(display_long)|uniprotkb:SYNPO(gene name)|psi-mi:SYNPO(display_short)|uniprotkb:KIAA1029(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000171992(gene)|ensembl:ENST00000394243(transcript)|ensembl:ENST00000522122(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030018"(Z disc)|go:"GO:0032233"(positive regulation of actin filament bundle assembly)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0051492"(regulation of stress fiber assembly)|go:"GO:0097444"(spine apparatus)|go:"GO:1905355"(spine apparatus assembly)|interpro:IPR028753|mint:Q8N3V7|go:"GO:0098886"(modification of dendritic spine)|refseq:NP_001103444.1|refseq:NP_001159680.1|refseq:NP_001159681.1|refseq:NP_009217.3|ensembl:ENST00000307662|ensembl:ENSP00000302139|ensembl:ENSP00000377789|ensembl:ENST00000519664|ensembl:ENSP00000429268|ensembl:ENSP00000428378|refseq:XP_011535854.1|refseq:XP_005268427.1|refseq:XP_005268428.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rCCRVthnF+JTqcwh9lD+GFoWIpo9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96KQ7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-744366|uniprotkb:B0UZY2|uniprotkb:Q14349|uniprotkb:Q6PK06|uniprotkb:Q96MH5|uniprotkb:Q96QD0|uniprotkb:Q9UQL8|uniprotkb:Q9Y331|uniprotkb:Q5JQ92|uniprotkb:Q5JP83|uniprotkb:Q5JQA1|uniprotkb:Q5JQG3|ensembl:ENSP00000364687|ensembl:ENSP00000372864|ensembl:ENSP00000392305|ensembl:ENSP00000396119|ensembl:ENSP00000406110|ensembl:ENSP00000416957 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ehmt2_human(display_long)|uniprotkb:KMT1C(gene name synonym)|uniprotkb:Histone H3-K9 methyltransferase 3(gene name synonym)|uniprotkb:Euchromatic histone-lysine N-methyltransferase 2(gene name synonym)|uniprotkb:HLA-B-associated transcript 8(gene name synonym)|uniprotkb:Protein G9a(gene name synonym)|uniprotkb:Lysine N-methyltransferase 1C(gene name synonym)|uniprotkb:EHMT2(gene name)|psi-mi:EHMT2(display_short)|uniprotkb:BAT8(gene name synonym)|uniprotkb:G9A(gene name synonym)|uniprotkb:NG36(gene name synonym)|uniprotkb:C6orf30(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006700.3|refseq:NP_079532.5|interpro:IPR043550|mint:Q96KQ7|rcsb pdb:2O8J|rcsb pdb:3DM1|rcsb pdb:3K5K|rcsb pdb:3RJW|rcsb pdb:4NVQ|rcsb pdb:5JHN|rcsb pdb:5JIN|rcsb pdb:5JIY|rcsb pdb:5JJ0|rcsb pdb:5T0K|rcsb pdb:5T0M|rcsb pdb:5TTF|rcsb pdb:5TUY|rcsb pdb:5V9I|rcsb pdb:5VSC|rcsb pdb:5VSE|rcsb pdb:6MM1|rcsb pdb:7BTV|rcsb pdb:7BUC|rcsb pdb:7DCF|reactome:R-HSA-2559582|reactome:R-HSA-3214841|reactome:R-HSA-427389|reactome:R-HSA-6804760|reactome:R-HSA-73762|reactome:R-HSA-8853884|reactome:R-HSA-8953750|ensembl:ENSG00000204371(gene)|ensembl:ENSG00000206376(gene)|ensembl:ENSG00000227333(gene)|ensembl:ENSG00000232045(gene)|go:"GO:0010424"(DNA methylation on cytosine within a CG sequence)|go:"GO:0016279"(protein-lysine N-methyltransferase activity)|go:"GO:0016571"(histone methylation)|go:"GO:0016607"(nuclear speck)|go:"GO:0018024"(histone-lysine N-methyltransferase activity)|go:"GO:0018027"(peptidyl-lysine dimethylation)|go:"GO:0034968"(histone lysine methylation)|go:"GO:0035265"(organ growth)|go:"GO:0035690"|go:"GO:0036166"(phenotypic switching)|go:"GO:0044030"(regulation of DNA methylation)|go:"GO:0045471"(response to ethanol)|ensembl:ENSG00000236759(gene)|ensembl:ENSG00000238134(gene)|ensembl:ENST00000375537(transcript)|ensembl:ENST00000383373(transcript)|ensembl:ENST00000420336(transcript)|ensembl:ENST00000421926(transcript)|ensembl:ENST00000429506(transcript)|ensembl:ENST00000450075(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0002039"(p53 binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006275"(regulation of DNA replication)|go:"GO:0006306"(DNA methylation)|go:"GO:0007130"(synaptonemal complex assembly)|go:"GO:0007286"(spermatid development)|go:"GO:0007616"(long-term memory)|go:"GO:0008270"(zinc ion binding)|go:"GO:0009267"(cellular response to starvation)|go:"GO:0009566"(fertilization)|go:"GO:0046974"("histone methyltransferase activity (H3-K9 specific)")|go:"GO:0046976"("histone methyltransferase activity (H3-K27 specific)")|go:"GO:0048148"(behavioral response to cocaine)|go:"GO:0048665"(neuron fate specification)|go:"GO:0051569"(regulation of histone H3-K4 methylation)|go:"GO:0051570"(regulation of histone H3-K9 methylation)|go:"GO:0060992"(response to fungicide)|go:"GO:0070742"(C2H2 zinc finger domain binding)|go:"GO:0071314"(cellular response to cocaine)|go:"GO:1902902"(negative regulation of autophagosome assembly)|go:"GO:1990841"(promoter-specific chromatin binding)|interpro:IPR001214(SET)|interpro:IPR002110(Ankyrin)|interpro:IPR007728(Pre-SET zinc-binding region)|interpro:IPR020683|interpro:IPR036770|interpro:IPR038034|refseq:NP_001305762.1|refseq:NP_001276342.1|dip:DIP-34461N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dblr0h0KBVa6kvaDHhnynRuHE6E9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O60315 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-717614|uniprotkb:A0JP09|uniprotkb:Q9UED1|uniprotkb:B7Z2P2|uniprotkb:F5H814|ensembl:ENSP00000386854|ensembl:ENSP00000454157|ensembl:ENSP00000487174 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zeb2_human(display_long)|uniprotkb:Zinc finger homeobox protein 1b(gene name synonym)|uniprotkb:Smad-interacting protein 1(gene name synonym)|uniprotkb:ZEB2(gene name)|psi-mi:ZEB2(display_short)|uniprotkb:KIAA0569(gene name synonym)|uniprotkb:SIP1(gene name synonym)|uniprotkb:ZFX1B(gene name synonym)|uniprotkb:HRIHFB2411(orf name)|uniprotkb:ZFHX1B(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001165124.1|refseq:NP_055610.1|ensembl:ENST00000409487(transcript)|ensembl:ENST00000558170(transcript)|ensembl:ENST00000627532(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|ensembl:ENSG00000169554(gene)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007399"(nervous system development)|go:"GO:0019208"(phosphatase regulator activity)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045636"(positive regulation of melanocyte differentiation)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|go:"GO:0048023"(positive regulation of melanin biosynthetic process)|go:"GO:0048066"(developmental pigmentation)|go:"GO:0048856"(anatomical structure development)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0097324"(melanocyte migration)|go:"GO:1903056"(regulation of melanosome organization)|interpro:IPR001356(Homeobox)|interpro:IPR008598(Drought induced 19)|interpro:IPR009057(Homeodomain-like)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|mint:O60315|rcsb pdb:2DA7|go:"GO:0030511"(positive regulation of transforming growth factor beta receptor signaling pathway)|refseq:XP_006712944.1|refseq:XP_006712945.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:KIKq943mmyO6wbsDamXsyo0OnEo9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q16643 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351394|uniprotkb:Q9UFZ5|uniprotkb:B2RBG0|ensembl:ENSP00000308532|intact:EBI-4404710|uniprotkb:A8MV58 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dreb_human(display_long)|uniprotkb:DBN1(gene name)|psi-mi:DBN1(display_short)|uniprotkb:Developmentally-regulated brain protein(gene name synonym)|uniprotkb:D0S117E(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004386.2|refseq:NP_543157.1|refseq:XP_005265884.1|ensembl:ENSG00000113758(gene)|ensembl:ENST00000309007(transcript)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0003779"(actin binding)|go:"GO:0005522"(profilin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005921"(gap junction)|go:"GO:0007015"(actin filament organization)|go:"GO:0010643"(cell communication by chemical coupling)|go:"GO:0010644"(cell communication by electrical coupling)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0042641"(actomyosin)|go:"GO:0030425"(dendrite)|go:"GO:0045211"(postsynaptic membrane)|go:"GO:0045296"(cadherin binding)|go:"GO:0045773"(positive regulation of axon extension)|go:"GO:0048168"(regulation of neuronal synaptic plasticity)|go:"GO:0048812"(neuron projection morphogenesis)|go:"GO:0050773"(regulation of dendrite development)|go:"GO:0051015"(actin filament binding)|go:"GO:0051220"(cytoplasmic sequestering of protein)|go:"GO:0061003"(positive regulation of dendritic spine morphogenesis)|go:"GO:0061351"(neural precursor cell proliferation)|go:"GO:0098974"(postsynaptic actin cytoskeleton organization)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099524"(postsynaptic cytosol)|go:"GO:1902685"(positive regulation of receptor localization to synapse)|interpro:IPR002108(Actin-binding, cofilin/tropomyosin type)|interpro:IPR028438|interpro:IPR029006|mint:Q16643|go:"GO:0030426"(growth cone)|go:"GO:0030427"(site of polarized growth)|go:"GO:0030833"(regulation of actin filament polymerization)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031915"(positive regulation of synaptic plasticity)|rcsb pdb:5Y1Z|rcsb pdb:5ZZ9|reactome:R-HSA-9013405|reactome:R-HSA-9013407|reactome:R-HSA-9013418|reactome:R-HSA-9013422|go:"GO:0032507"(maintenance of protein location in cell)|refseq:XP_016864629.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0+VPJM5mTuG2jzmzGG3iLswmCUc9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q08211 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352022|intact:EBI-1058470|uniprotkb:Q5VY62|uniprotkb:Q6PD69|uniprotkb:Q99556|uniprotkb:B2RNV4|uniprotkb:Q05CI5|uniprotkb:Q12803|uniprotkb:Q32Q22|ensembl:ENSP00000356520 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dhx9_human(display_long)|uniprotkb:DHX9(gene name)|psi-mi:DHX9(display_short)|uniprotkb:DDX9(gene name synonym)|uniprotkb:NDH2(gene name synonym)|uniprotkb:DExH-box helicase 9(gene name synonym)|uniprotkb:RNA helicase A(gene name synonym)|uniprotkb:LKP(gene name synonym)|uniprotkb:Nuclear DNA helicase II(gene name synonym)|uniprotkb:DEAH box protein 9(gene name synonym)|uniprotkb:Leukophysin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001348.2|dip:DIP-31504N|go:"GO:0017111"(nucleoside-triphosphatase activity)|go:"GO:0030423"(targeting of mRNA for destruction involved in RNA interference)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0032508"(DNA duplex unwinding)|go:"GO:0032727"(positive regulation of interferon-alpha production)|go:"GO:0032728"(positive regulation of interferon-beta production)|go:"GO:0032741"(positive regulation of interleukin-18 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033679"(3'-5' DNA/RNA helicase activity)|go:"GO:0034458"(3'-5' RNA helicase activity)|go:"GO:0034622"|go:"GO:0035197"(siRNA binding)|go:"GO:0035613"(RNA stem-loop binding)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0039695"(DNA-templated viral transcription)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0043138"(3'-5' DNA helicase activity)|go:"GO:0044806"(G-quadruplex DNA unwinding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045142"(triplex DNA binding)|go:"GO:0045739"(positive regulation of DNA repair)|go:"GO:0045740"(positive regulation of DNA replication)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046833"(positive regulation of RNA export from nucleus)|go:"GO:0046872"(metal ion binding)|go:"GO:0047429"(nucleoside-triphosphate diphosphatase activity)|go:"GO:0048146"(positive regulation of fibroblast proliferation)|go:"GO:0048511"(rhythmic process)|go:"GO:0050434"(positive regulation of viral transcription)|go:"GO:0050684"(regulation of mRNA processing)|go:"GO:0050691"(regulation of defense response to virus by host)|go:"GO:0050729"(positive regulation of inflammatory response)|go:"GO:0051028"(mRNA transport)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0060760"(positive regulation of response to cytokine stimulus)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0061676"(importin-alpha family protein binding)|go:"GO:0070063"(RNA polymerase binding)|go:"GO:0070269"(pyroptosis)|go:"GO:0070578"(RISC-loading complex)|go:"GO:0070922"(small RNA loading onto RISC)|go:"GO:0070934"(CRD-mediated mRNA stabilization)|go:"GO:0070937"(CRD-mediated mRNA stability complex)|go:"GO:0071356"(cellular response to tumor necrosis factor)|go:"GO:0071360"(cellular response to exogenous dsRNA)|go:"GO:0097165"(nuclear stress granule)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1903608"(protein localization to cytoplasmic stress granule)|go:"GO:1905172"(RISC complex binding)|go:"GO:1905538"(polysome binding)|go:"GO:1905698"(positive regulation of polysome binding)|go:"GO:1990518"(single-stranded 3'-5' DNA helicase activity)|go:"GO:1990825"(sequence-specific mRNA binding)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000373"("positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity")|go:"GO:2000637"(positive regulation of gene silencing by miRNA)|go:"GO:2000765"(regulation of cytoplasmic translation)|go:"GO:2000767"(positive regulation of cytoplasmic translation)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR002464(DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site)|interpro:IPR007502(Helicase-associated region)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR011709(Region of unknown function DUF1605)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR014720(Double-stranded RNA-binding-like)|interpro:IPR027417|interpro:IPR044445|interpro:IPR044446|interpro:IPR044447|mint:Q08211|rcsb pdb:3LLM|rcsb pdb:3VYX|rcsb pdb:3VYY|reactome:R-HSA-1810476|reactome:R-HSA-3134963|reactome:R-HSA-72163|go:"GO:1904973"(positive regulation of viral translation)|ensembl:ENSG00000135829(gene)|ensembl:ENST00000367549(transcript)|go:"GO:0000380"(alternative mRNA splicing, via spliceosome)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000993"(RNA polymerase II complex binding)|go:"GO:0001069"(regulatory region RNA binding)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003677"(DNA binding)|go:"GO:0003678"(DNA helicase activity)|go:"GO:0003688"(DNA replication origin binding)|go:"GO:0003690"(double-stranded DNA binding)|go:"GO:0003697"(single-stranded DNA binding)|go:"GO:0003712"(transcription coregulator activity)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0003727"(single-stranded RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005726"(perichromatin fibrils)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0006260"(DNA replication)|go:"GO:0006353"(DNA-templated transcription, termination)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006954"(inflammatory response)|go:"GO:0010501"(RNA secondary structure unwinding)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016442"(RISC complex)|go:"GO:0016604"(nuclear body) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:b0VP2Frtvwa9WbYVMwB6TbV2uGU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14247 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351886|intact:EBI-3959948|ensembl:ENSP00000301843|ensembl:ENSP00000500756|uniprotkb:Q8N707|uniprotkb:Q96H99 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:src8_human(display_long)|uniprotkb:CTTN(gene name)|psi-mi:CTTN(display_short)|uniprotkb:EMS1(gene name synonym)|uniprotkb:Amplaxin(gene name synonym)|uniprotkb:Oncogene EMS1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005222.2|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0006930"(substrate-dependent cell migration, cell extension)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0030027"(lamellipodium)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0030427"(site of polarized growth)|go:"GO:0030516"(regulation of axon extension)|go:"GO:0030833"(regulation of actin filament polymerization)|go:"GO:0030838"(positive regulation of actin filament polymerization)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0043197"(dendritic spine)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045296"(cadherin binding)|go:"GO:0045987"(positive regulation of smooth muscle contraction)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0048812"(neuron projection morphogenesis)|go:"GO:0048870"(cell motility)|go:"GO:0051015"(actin filament binding)|go:"GO:0097062"(dendritic spine maintenance)|go:"GO:0097581"(lamellipodium organization)|go:"GO:1903146"(regulation of autophagy of mitochondrion)|go:"GO:1990023"(mitotic spindle midzone)|go:"GO:2001237"(negative regulation of extrinsic apoptotic signaling pathway)|interpro:IPR001452(Src homology-3)|interpro:IPR003134(Hs1/Cortactin)|interpro:IPR015503(Cortactin)|interpro:IPR035716|interpro:IPR036028|mint:Q14247|rcsb pdb:1X69|rcsb pdb:2D1X|reactome:R-HSA-5627123|reactome:R-HSA-8856828|ensembl:ENSG00000085733(gene)|ensembl:ENSG00000288401(gene)|ensembl:ENST00000301843(transcript)|ensembl:ENST00000671805(transcript)|go:"GO:0001726"(ruffle)|go:"GO:0002102"(podosome)|go:"GO:0005522"(profilin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005905"(clathrin-coated pit)|go:"GO:0005925"(focal adhesion)|go:"GO:0005938"(cell cortex)|refseq:NP_001171669.1|refseq:NP_612632.1|dip:DIP-33190N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uzhAnL5Fu9Mgg9/LWeNiaYIwNVU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O95785 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1387294|uniprotkb:B7ZM82|uniprotkb:Q4G0E0|uniprotkb:Q6P6B0|uniprotkb:Q6ZN24|uniprotkb:Q7LDY6|uniprotkb:Q7LDZ1|uniprotkb:Q96IG5|uniprotkb:Q96SQ6|uniprotkb:Q9BUR8|uniprotkb:Q9NPT1|intact:EBI-10967552|uniprotkb:B3KVH1|uniprotkb:M0QY21 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:wiz_human(display_long)|uniprotkb:WIZ(gene name)|psi-mi:WIZ(display_short)|uniprotkb:ZNF803(gene name synonym)|uniprotkb:Widely-interspaced zinc finger-containing protein(gene name synonym)|uniprotkb:Zinc finger protein 803(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_067064.2|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|refseq:NP_001317324.1|interpro:IPR036236|mint:O95785|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0010571"(positive regulation of nuclear cell cycle DNA replication)|go:"GO:0030496"(midbody)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990226"(histone methyltransferase binding) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:FMQwuMDlEC/Zdsnayyl7kpQSmyg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06748 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-78579|uniprotkb:P08693|uniprotkb:Q12826|uniprotkb:Q13440|uniprotkb:Q13441|uniprotkb:Q14115|uniprotkb:Q5EU94|uniprotkb:Q5EU95|uniprotkb:Q5EU96|uniprotkb:Q5EU97|uniprotkb:Q5EU98|uniprotkb:Q5EU99|uniprotkb:Q6V962|uniprotkb:Q8WTW5|uniprotkb:Q96AT6|uniprotkb:Q96DC4|uniprotkb:Q96EA5|uniprotkb:A8K3N7|uniprotkb:B5BU00|uniprotkb:Q9UDJ7|uniprotkb:D3DQL6|uniprotkb:Q9BYG9|ensembl:ENSP00000296930|ensembl:ENSP00000428755 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:npm_human(display_long)|uniprotkb:NPM1(gene name)|psi-mi:NPM1(display_short)|uniprotkb:NPM(gene name synonym)|uniprotkb:Nucleolar phosphoprotein B23(gene name synonym)|uniprotkb:Numatrin(gene name synonym)|uniprotkb:Nucleolar protein NO38(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002511.1|refseq:NP_954654.1|refseq:NP_001032827.1|dip:DIP-30932N|ensembl:ENSG00000181163(gene)|ensembl:ENST00000296930(transcript)|ensembl:ENST00000517671(transcript)|go:"GO:0000055"(ribosomal large subunit export from nucleus)|go:"GO:0000056"(ribosomal small subunit export from nucleus)|go:"GO:0001046"(core promoter sequence-specific DNA binding)|go:"GO:0001558"(regulation of cell growth)|go:"GO:0001652"(granular component)|go:"GO:0003682"(chromatin binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0004860"(protein kinase inhibitor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006281"(DNA repair)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006407"(rRNA export from nucleus)|go:"GO:0006884"(cell volume homeostasis)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006913"(nucleocytoplasmic transport)|go:"GO:0007098"(centrosome cycle)|go:"GO:0007165"(signal transduction)|go:"GO:0007569"(cell aging)|go:"GO:0008104"(protein localization)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0010824"(regulation of centrosome duplication)|go:"GO:0010825"(positive regulation of centrosome duplication)|go:"GO:0010826"(negative regulation of centrosome duplication)|go:"GO:0015934"(large ribosomal subunit)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0019843"(rRNA binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030957"(Tat protein binding)|go:"GO:0031398"(positive regulation of protein ubiquitination)|go:"GO:0031616"(spindle pole centrosome)|go:"GO:0032071"(regulation of endodeoxyribonuclease activity)|go:"GO:0032991"(protein-containing complex)|go:"GO:0032993"(protein-DNA complex)|go:"GO:0034644"(cellular response to UV)|go:"GO:0042255"(ribosome assembly)|go:"GO:0042273"(ribosomal large subunit biogenesis)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042393"(histone binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043023"(ribosomal large subunit binding)|go:"GO:0043024"(ribosomal small subunit binding)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043516"(regulation of DNA damage response, signal transduction by p53 class mediator)|go:"GO:0044387"(negative regulation of protein kinase activity by regulation of protein phosphorylation)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046599"(regulation of centriole replication)|go:"GO:0047485"(protein N-terminus binding)|go:"GO:0048025"(negative regulation of mRNA splicing, via spliceosome)|go:"GO:0050821"(protein stabilization)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0060699"(regulation of endoribonuclease activity)|go:"GO:0060735"(regulation of eIF2 alpha phosphorylation by dsRNA)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1902629"(regulation of mRNA stability involved in cellular response to UV)|go:"GO:1902751"(positive regulation of cell cycle G2/M phase transition)|go:"GO:1904751"(positive regulation of protein localization to nucleolus)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR004301(Nucleoplasmin)|interpro:IPR024057|interpro:IPR032569|interpro:IPR036824|mint:P06748|rcsb pdb:2LLH|rcsb pdb:2P1B|rcsb pdb:2VXD|rcsb pdb:5EHD|reactome:R-HSA-180746|reactome:R-HSA-3899300|reactome:R-HSA-606279|reactome:R-HSA-6804115|reactome:R-HSA-8869496 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HJ7Mg+XsIhuJiScPKiI0dIa6KpM9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68363 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-487083|intact:EBI-1384226|uniprotkb:P04687|uniprotkb:P05209|uniprotkb:Q27I68|ensembl:ENSP00000336799|uniprotkb:Q8WU19 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tba1b_human(display_long)|uniprotkb:TUBA1B(gene name)|psi-mi:TUBA1B(display_short)|uniprotkb:Tubulin alpha-ubiquitous chain(gene name synonym)|uniprotkb:Alpha-tubulin ubiquitous(gene name synonym)|uniprotkb:Tubulin K-alpha-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006073.2|ensembl:ENSG00000123416(gene)|ensembl:ENST00000336023(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0005881"(cytoplasmic microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0030705"(cytoskeleton-dependent intracellular transport)|go:"GO:0031625"(ubiquitin protein ligase binding)|reactome:R-HSA-983189|go:"GO:0071353"(cellular response to interleukin-4)|interpro:IPR000217(Tubulin)|go:"GO:0045121"(membrane raft)|interpro:IPR002452(Alpha tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P68363|rcsb pdb:2E4H|rcsb pdb:5IJ0|rcsb pdb:5IJ9|rcsb pdb:5N5N|rcsb pdb:6E7B|rcsb pdb:6E7C|rcsb pdb:6I2I|go:"GO:0051301"(cell division)|rcsb pdb:6J4V|rcsb pdb:6J8O|rcsb pdb:6QUS|rcsb pdb:6QUY|rcsb pdb:6QVE|rcsb pdb:6QVJ|rcsb pdb:6S8L|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|reactome:R-HSA-9013407|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-2132295|reactome:R-HSA-9668328 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:D4YpuLCXl/S+53qV7P7sF81aARY9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H9B1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-766087|uniprotkb:Q8TCN7|uniprotkb:Q96F53|uniprotkb:Q96JF1|uniprotkb:Q96KH4|uniprotkb:B1AQ58|uniprotkb:B1AQ59|uniprotkb:Q86X08|ensembl:ENSP00000417980 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ehmt1_human(display_long)|uniprotkb:KMT1D(gene name synonym)|uniprotkb:Histone H3-K9 methyltransferase 5(gene name synonym)|uniprotkb:Euchromatic histone-lysine N-methyltransferase 1(gene name synonym)|uniprotkb:G9a-like protein 1(gene name synonym)|uniprotkb:Lysine N-methyltransferase 1D(gene name synonym)|uniprotkb:EHMT1(gene name)|psi-mi:EHMT1(display_short)|uniprotkb:EUHMTASE1(gene name synonym)|uniprotkb:KIAA1876(gene name synonym)|uniprotkb:GLP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001138999.1|refseq:NP_079033.4|ensembl:ENST00000371394|ensembl:ENSP00000485945|ensembl:ENSP00000417980|ensembl:ENST00000462484|ensembl:ENSP00000417328|dip:DIP-34585N|ensembl:ENSG00000181090(gene)|ensembl:ENST00000460843(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0002039"(p53 binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0006306"(DNA methylation)|go:"GO:0006325"(chromatin organization)|go:"GO:0008168"(methyltransferase activity)|go:"GO:0008270"(zinc ion binding)|go:"GO:0016279"(protein-lysine N-methyltransferase activity)|go:"GO:0016571"(histone methylation)|go:"GO:0016604"(nuclear body)|go:"GO:0018024"(histone-lysine N-methyltransferase activity)|go:"GO:0018026"(peptidyl-lysine monomethylation)|go:"GO:0018027"(peptidyl-lysine dimethylation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045995"(regulation of embryonic development)|go:"GO:0046974"("histone methyltransferase activity (H3-K9 specific)")|go:"GO:0046976"("histone methyltransferase activity (H3-K27 specific)")|go:"GO:0060992"(response to fungicide)|go:"GO:0070742"(C2H2 zinc finger domain binding)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|interpro:IPR001214(SET)|interpro:IPR002110(Ankyrin)|interpro:IPR007728(Pre-SET zinc-binding region)|interpro:IPR020683|interpro:IPR036770|interpro:IPR038035|interpro:IPR043550|mint:Q9H9B1|rcsb pdb:2IGQ|rcsb pdb:2RFI|rcsb pdb:3B7B|rcsb pdb:3B95|rcsb pdb:3FPD|rcsb pdb:3HNA|rcsb pdb:3MO0|rcsb pdb:3MO2|rcsb pdb:3MO5|rcsb pdb:3SW9|rcsb pdb:3SWC|rcsb pdb:4I51|rcsb pdb:5TTG|rcsb pdb:5TUZ|rcsb pdb:5V9J|rcsb pdb:5VSD|rcsb pdb:5VSF|rcsb pdb:6BY9|rcsb pdb:6MBO|rcsb pdb:6MBP|reactome:R-HSA-2559582|reactome:R-HSA-3214841|reactome:R-HSA-6804760|reactome:R-HSA-8853884|reactome:R-HSA-8953750 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4L6QOGSsRPi8hDjS2/BYShjpnf89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P48681 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10966836|ensembl:ENSP00000357206|uniprotkb:Q5SYZ6|uniprotkb:Q3LIF5|uniprotkb:O00552 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nest_human(display_long)|uniprotkb:NES(gene name)|psi-mi:NES(display_short)|uniprotkb:Nbla00170(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006608.1|ensembl:ENSG00000132688(gene)|ensembl:ENST00000368223(transcript)|go:"GO:0000086"(G2/M transition of mitotic cell cycle)|go:"GO:0005737"(cytoplasm)|go:"GO:0005882"(intermediate filament)|go:"GO:0007417"(central nervous system development)|go:"GO:0007420"(brain development)|go:"GO:0019215"(intermediate filament binding)|go:"GO:0030844"(positive regulation of intermediate filament depolymerization)|go:"GO:0031076"(embryonic camera-type eye development)|go:"GO:0031730"(CCR5 chemokine receptor binding)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0043086"(negative regulation of catalytic activity)|go:"GO:0043524"(negative regulation of neuron apoptotic process)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0048858"(cell projection morphogenesis)|go:"GO:0072089"(stem cell proliferation)|go:"GO:2000179"(positive regulation of neural precursor cell proliferation)|interpro:IPR018039|interpro:IPR031211|interpro:IPR039008|mint:P48681 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IEPf+MleiqNi+QAX57rAn4tYId09606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96JM2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1210359|uniprotkb:Q8N408|uniprotkb:Q5T0T4|intact:EBI-28975500|ensembl:ENSP00000277225 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn462_human(display_long)|uniprotkb:ZNF462(gene name)|psi-mi:ZNF462(display_short)|uniprotkb:KIAA1803(gene name synonym)|uniprotkb:Zinc finger PBX1-interacting protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_067047.4|ensembl:ENSP00000277225|ensembl:ENST00000441147|ensembl:ENSP00000397306|refseq:XP_006717278.1|refseq:XP_006717279.1|dip:DIP-39340N|ensembl:ENSG00000148143(gene)|ensembl:ENST00000277225(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006325"(chromatin organization)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0043392"(negative regulation of DNA binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|mint:Q96JM2|rcsb pdb:1X6F intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ftIOu4wVkBWJw+4aHw+R+nN44Vc9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61158 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351428|uniprotkb:P32391|ensembl:ENSP00000263238|uniprotkb:Q53QM2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arp3_human(display_long)|uniprotkb:ACTR3(gene name)|psi-mi:ACTR3(display_short)|uniprotkb:ARP3(gene name synonym)|uniprotkb:Actin-like protein 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005712.1|ensembl:ENSG00000115091(gene)|ensembl:ENST00000263238(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005903"(brush border)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0007163"(establishment or maintenance of cell polarity)|go:"GO:0008356"(asymmetric cell division)|go:"GO:0010592"(positive regulation of lamellipodium assembly)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016344"(meiotic chromosome movement towards spindle pole)|go:"GO:0030027"(lamellipodium)|go:"GO:0033206"(meiotic cytokinesis)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0051653"(spindle localization)|go:"GO:0060271"(cilium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070358"(actin polymerization-dependent cell motility)|go:"GO:0071346"(cellular response to interferon-gamma)|interpro:IPR004000(Actin/actin-like)|interpro:IPR015623(Actin-related protein 3)|interpro:IPR020902|interpro:IPR043129|mint:P61158|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|dip:DIP-33140N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XbkZeKzG8lGbT8dxYkGqeJT0vEg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F5H6E2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043849|ensembl:ENSP00000437685 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f5h6e2_human(display_long)|uniprotkb:MYO1C(gene name)|psi-mi:MYO1C(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000197879(gene)|ensembl:ENST00000545534(transcript)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0016459"(myosin complex)|go:"GO:0016604"(nuclear body)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR010926(Myosin tail 2)|interpro:IPR027417|interpro:IPR036072|interpro:IPR036961 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HtLoTN1CwLk8DE71S9WSclJnYy09606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61160 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353580|ensembl:ENSP00000260641|uniprotkb:O15142|uniprotkb:Q96C82|uniprotkb:B2RCP5|uniprotkb:D6W5F4|uniprotkb:E9PF41 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arp2_human(display_long)|uniprotkb:ACTR2(gene name)|psi-mi:ACTR2(display_short)|uniprotkb:ARP2(gene name synonym)|uniprotkb:Actin-like protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138071(gene)|ensembl:ENST00000260641(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0007163"(establishment or maintenance of cell polarity)|go:"GO:0008306"(associative learning)|go:"GO:0008356"(asymmetric cell division)|go:"GO:0010592"(positive regulation of lamellipodium assembly)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016344"(meiotic chromosome movement towards spindle pole)|go:"GO:0016482"(cytosolic transport)|go:"GO:0030027"(lamellipodium)|go:"GO:0030478"(actin cap)|go:"GO:0033206"(meiotic cytokinesis)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0035861"(site of double-strand break)|go:"GO:0035902"(response to immobilization stress)|go:"GO:0035984"(cellular response to trichostatin A)|go:"GO:0045471"(response to ethanol)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0051653"(spindle localization)|go:"GO:0060271"(cilium assembly)|go:"GO:0061003"(positive regulation of dendritic spine morphogenesis)|go:"GO:0061825"(podosome core)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:1904813"(ficolin-1-rich granule lumen)|refseq:NP_001005386.1|refseq:NP_005713.1|go:"GO:1905168"(positive regulation of double-strand break repair via homologous recombination)|interpro:IPR004000(Actin/actin-like)|interpro:IPR020902|interpro:IPR043129|mint:P61160|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-6798695|reactome:R-HSA-8856828|reactome:R-HSA-9664422|dip:DIP-33165N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:URQsZpIsMtsFZAnpLYDDvgKcPqA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14573 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351055|uniprotkb:Q14649|uniprotkb:Q5TAQ2|intact:EBI-28978202|ensembl:ENSP00000363435|ensembl:ENSP00000475177 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:itpr3_human(display_long)|uniprotkb:ITPR3(gene name)|psi-mi:ITPR3(display_short)|uniprotkb:Type 3 inositol 1,4,5-trisphosphate receptor(gene name synonym)|uniprotkb:IP3 receptor isoform 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002215.2|ensembl:ENSP00000363435|ensembl:ENSP00000475177|ensembl:ENSG00000096433(gene)|ensembl:ENST00000374316(transcript)|ensembl:ENST00000605930(transcript)|go:"GO:0000822"(inositol hexakisphosphate binding)|go:"GO:0005220"(inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005640"(nuclear outer membrane)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007204"(positive regulation of cytosolic calcium ion concentration)|go:"GO:0015278"(calcium-release channel activity)|go:"GO:0016020"(membrane)|go:"GO:0016529"(sarcoplasmic reticulum)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0031095"(platelet dense tubular network membrane)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043209"(myelin sheath)|go:"GO:0043235"(receptor complex)|go:"GO:0043533"(inositol 1,3,4,5 tetrakisphosphate binding)|go:"GO:0045177"(apical part of cell)|go:"GO:0050913"(sensory perception of bitter taste)|go:"GO:0050916"(sensory perception of sweet taste)|go:"GO:0050917"(sensory perception of umami taste)|go:"GO:0051209"(release of sequestered calcium ion into cytosol)|go:"GO:0051592"(response to calcium ion)|go:"GO:0060291"(long-term synaptic potentiation)|go:"GO:0060402"(calcium ion transport into cytosol)|go:"GO:0070679"(inositol 1,4,5 trisphosphate binding)|interpro:IPR000493(Inositol 1,4,5-trisphosphate-binding protein receptor)|interpro:IPR000699(Intracellular calcium-release channel)|interpro:IPR005821(Ion transport)|interpro:IPR013662(RyR and IP3R Homology associated)|interpro:IPR014821(Inositol 1,4,5-trisphosphate/ryanodine receptor)|interpro:IPR016093(MIR motif)|interpro:IPR035910|interpro:IPR036300|mint:Q14573|rcsb pdb:6DQJ|rcsb pdb:6DQN|rcsb pdb:6DQS|rcsb pdb:6DQV|rcsb pdb:6DQZ|rcsb pdb:6DR0|rcsb pdb:6DR2|rcsb pdb:6DRA|rcsb pdb:6DRC|rcsb pdb:6UQK|reactome:R-HSA-112043|reactome:R-HSA-114508|reactome:R-HSA-139853|reactome:R-HSA-1489509|reactome:R-HSA-2029485|reactome:R-HSA-2871809|reactome:R-HSA-381676|reactome:R-HSA-4086398|reactome:R-HSA-422356|reactome:R-HSA-5218921|reactome:R-HSA-5578775|reactome:R-HSA-5607763|reactome:R-HSA-9664323|go:"GO:0007613"(memory)|reactome:R-HSA-983695 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:O+1OC4E0IrAOt+D672eXnhWHy3I9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NYL9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352614|ensembl:ENSP00000308753|uniprotkb:Q9NT43|uniprotkb:Q9NZR0|uniprotkb:B2R6G7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tmod3_human(display_long)|uniprotkb:TMOD3(gene name)|psi-mi:TMOD3(display_short)|uniprotkb:Ubiquitous tropomodulin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138594(gene)|ensembl:ENST00000308580(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005523"(tropomyosin binding)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005865"(striated muscle thin filament)|go:"GO:0005912"(adherens junction)|go:"GO:0006936"(muscle contraction)|go:"GO:0007015"(actin filament organization)|go:"GO:0030016"(myofibril)|go:"GO:0030239"(myofibril assembly)|refseq:NP_055362.1|go:"GO:0048821"(erythrocyte development)|go:"GO:0051694"(pointed-end actin filament capping)|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|go:"GO:1901992"(positive regulation of mitotic cell cycle phase transition)|interpro:IPR004934(Tropomodulin)|interpro:IPR030133|interpro:IPR032675|mint:Q9NYL9|reactome:R-HSA-390522|reactome:R-HSA-9013418|reactome:R-HSA-9696264|refseq:XP_016877576.1|refseq:XP_016877577.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:crEfCAAepSPAE8ByBpD4Sr14P5I9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46940 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-297509|ensembl:ENSP00000268182|uniprotkb:A7MBM3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:iqga1_human(display_long)|uniprotkb:IQGAP1(gene name)|psi-mi:IQGAP1(display_short)|uniprotkb:KIAA0051(gene name synonym)|uniprotkb:p195(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000140575(gene)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005547"(phosphatidylinositol-3,4,5-trisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005874"(microtubule)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|ensembl:ENST00000268182(transcript)|go:"GO:0001726"(ruffle)|go:"GO:0005925"(focal adhesion)|go:"GO:0007165"(signal transduction)|go:"GO:0007173"(epidermal growth factor receptor signaling pathway)|go:"GO:0005078"(MAP-kinase scaffold activity)|go:"GO:0005095"(GTPase inhibitor activity)|go:"GO:0007346"(regulation of mitotic cell cycle)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0016477"(cell migration)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0030424"(axon)|go:"GO:0030426"(growth cone)|go:"GO:0030496"(midbody)|go:"GO:0031234"(extrinsic component of cytoplasmic side of plasma membrane)|go:"GO:0031267"(small GTPase binding)|go:"GO:0032956"(regulation of actin cytoskeleton organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0036057"(slit diaphragm)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0043005"(neuron projection)|go:"GO:0043087"(regulation of GTPase activity)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043410"(positive regulation of MAPK cascade)|go:"GO:0043539"(protein serine/threonine kinase activator activity)|go:"GO:0044548"(S100 protein binding)|go:"GO:0045121"(membrane raft)|go:"GO:0045296"(cadherin binding)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0051015"(actin filament binding)|go:"GO:0051019"(mitogen-activated protein kinase binding)|go:"GO:0051894"(positive regulation of focal adhesion assembly)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071277"(cellular response to calcium ion)|go:"GO:0071364"(cellular response to epidermal growth factor stimulus)|go:"GO:0072015"(glomerular visceral epithelial cell development)|go:"GO:1900006"(positive regulation of dendrite development)|go:"GO:1900086"(positive regulation of peptidyl-tyrosine autophosphorylation)|go:"GO:1903829"(positive regulation of protein localization)|go:"GO:1904754"(positive regulation of vascular associated smooth muscle cell migration)|go:"GO:1990138"(neuron projection extension)|go:"GO:1990776"(response to angiotensin)|interpro:IPR000048(IQ calmodulin-binding region)|go:"GO:0030667"(secretory granule membrane)|interpro:IPR000593(RasGAP protein, C-terminal)|interpro:IPR001202(WW/Rsp5/WWP)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR001936(Ras GTPase-activating protein)|interpro:IPR008936(Rho GTPase activation protein)|interpro:IPR023152|interpro:IPR027417|interpro:IPR036872|mint:P46940|rcsb pdb:1X0H|rcsb pdb:2RR8|rcsb pdb:3FAY|rcsb pdb:3I6X|rcsb pdb:5L0O|reactome:R-HSA-373753|reactome:R-HSA-381676|reactome:R-HSA-5626467|reactome:R-HSA-5674135|reactome:R-HSA-6798695|reactome:R-HSA-6802946|reactome:R-HSA-6802948|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-8980692|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013406|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9649948|reactome:R-HSA-9656223|refseq:NP_003861.1|dip:DIP-32597N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nXO2Z6Qn8EQGfziT8dnWz1pbK/w9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75369 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352089|intact:EBI-1754974|uniprotkb:Q13706|uniprotkb:Q59EC2|uniprotkb:Q6MZJ1|uniprotkb:Q8WXS9|uniprotkb:Q8WXT0|uniprotkb:Q8WXT1|uniprotkb:Q8WXT2|uniprotkb:Q9NRB5|uniprotkb:B2ZZ84|uniprotkb:Q9NT26|uniprotkb:Q9UEV9|intact:EBI-1960054|uniprotkb:C9JKE6|uniprotkb:B2ZZ85|uniprotkb:C9JMC4|ensembl:ENSP00000295956|uniprotkb:B2ZZ83|uniprotkb:Q60FE7|uniprotkb:Q8WXT3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:flnb_human(display_long)|uniprotkb:FLNB(gene name)|psi-mi:FLNB(display_short)|uniprotkb:FLN1L(gene name synonym)|uniprotkb:FLN3(gene name synonym)|uniprotkb:TABP(gene name synonym)|uniprotkb:TAP(gene name synonym)|uniprotkb:Beta-filamin(gene name synonym)|uniprotkb:Actin-binding-like protein(gene name synonym)|uniprotkb:Thyroid autoantigen(gene name synonym)|uniprotkb:Truncated actin-binding protein(gene name synonym)|uniprotkb:ABP-280 homolog(gene name synonym)|uniprotkb:ABP-278(gene name synonym)|uniprotkb:Filamin-3(gene name synonym)|uniprotkb:Filamin homolog 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001157791.1|refseq:NP_001448.2|go:"GO:0003334"(keratinocyte development)|go:"GO:0003382"(epithelial cell morphogenesis)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005925"(focal adhesion)|go:"GO:0005938"(cell cortex)|go:"GO:0007165"(signal transduction)|go:"GO:0007519"(skeletal muscle tissue development)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030018"(Z disc)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043025"(neuronal cell body)|go:"GO:0045296"(cadherin binding)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071346"(cellular response to interferon-gamma)|interpro:IPR001298(Filamin/ABP280 repeat)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR017868|interpro:IPR029874|interpro:IPR036872|interpro:IPR044801|mint:O75369|rcsb pdb:2DI8|rcsb pdb:2DI9|rcsb pdb:2DIA|rcsb pdb:2DIB|rcsb pdb:2DIC|rcsb pdb:2DJ4|rcsb pdb:2DLG|rcsb pdb:2DMB|rcsb pdb:2DMC|rcsb pdb:2E9I|rcsb pdb:2E9J|rcsb pdb:2EE6|rcsb pdb:2EE9|rcsb pdb:2EEA|rcsb pdb:2EEB|rcsb pdb:2EEC|rcsb pdb:2EED|rcsb pdb:2WA5|rcsb pdb:2WA6|rcsb pdb:2WA7|rcsb pdb:3FER|rcsb pdb:4B7L|rcsb pdb:5DCP|reactome:R-HSA-1169408|ensembl:ENSG00000136068(gene)|ensembl:ENST00000295956(transcript)|go:"GO:0001725"(stress fiber)|refseq:NP_001157789.1|refseq:NP_001157790.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:lsf6C/Vg0io7UhUi1Kapgwp0p5E9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92618 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2799490|intact:EBI-28975450|ensembl:ENSP00000394757 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn516_human(display_long)|uniprotkb:KIAA0222(gene name synonym)|uniprotkb:ZNF516(gene name)|psi-mi:ZNF516(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000394757|refseq:XP_011524571.1|refseq:XP_011524572.1|refseq:XP_011524573.1|refseq:XP_011524574.1|refseq:XP_011524575.1|refseq:XP_011524576.1|refseq:XP_011524577.1|refseq:NP_055458.1|ensembl:ENSG00000101493(gene)|ensembl:ENST00000443185(transcript)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0000987"(cis-regulatory region sequence-specific DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0009409"(response to cold)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|go:"GO:0050873"(brown fat cell differentiation)|go:"GO:0060612"(adipose tissue development)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|mint:Q92618|refseq:XP_016881586.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:L9yQp1u4G/AN1L79Bg8odnkiPi89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q01082 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351561|intact:EBI-1642531|uniprotkb:O60837|uniprotkb:Q16057|uniprotkb:Q53R99|uniprotkb:Q59ER3|uniprotkb:Q8IX99|uniprotkb:B2RP63|ensembl:ENSP00000349259 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sptb2_human(display_long)|uniprotkb:SPTBN1(gene name)|psi-mi:SPTBN1(display_short)|uniprotkb:SPTB2(gene name synonym)|uniprotkb:Spectrin, non-erythroid beta chain 1(gene name synonym)|uniprotkb:Beta-II spectrin(gene name synonym)|uniprotkb:Fodrin beta chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003119.2|refseq:NP_842565.2|ensembl:ENSG00000115306(gene)|ensembl:ENST00000356805(transcript)|go:"GO:0000281"(mitotic cytokinesis)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005543"(phospholipid binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007009"(plasma membrane organization)|go:"GO:0007182"(common-partner SMAD protein phosphorylation)|go:"GO:0008091"(spectrin)|go:"GO:0014069"(postsynaptic density)|go:"GO:0014731"(spectrin-associated cytoskeleton)|go:"GO:0030506"(ankyrin binding)|go:"GO:0030673"(axolemma)|go:"GO:0031430"(M band)|go:"GO:0032437"(cuticular plate)|go:"GO:0032743"(positive regulation of interleukin-2 production)|go:"GO:0043001"(Golgi to plasma membrane protein transport)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045296"(cadherin binding)|go:"GO:0051020"(GTPase binding)|go:"GO:0051693"(actin filament capping)|go:"GO:0060390"(regulation of SMAD protein signal transduction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071709"(membrane assembly)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1903076"(regulation of protein localization to plasma membrane)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001605(Spectrin/pleckstrin-like)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR002017(Spectrin repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR016343(Spectrin, beta subunit)|interpro:IPR018159|interpro:IPR036872|interpro:IPR041681|mint:Q01082|rcsb pdb:1AA2|rcsb pdb:1BKR|rcsb pdb:3EDV|reactome:R-HSA-375165|reactome:R-HSA-445095|reactome:R-HSA-5673001|reactome:R-HSA-6807878|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9703465|reactome:R-HSA-373753|refseq:XP_005264574.1|refseq:XP_006712150.1|refseq:XP_016860268.1|refseq:XP_016860269.1|refseq:XP_016860270.1|dip:DIP-33182N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rQJxsoEirg87umLjsEwHcQ0/blQ9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35579 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350338|uniprotkb:O60805|ensembl:ENSP00000216181|uniprotkb:Q86T83|intact:EBI-1054343|uniprotkb:A8K6E4|uniprotkb:Q60FE2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myh9_human(display_long)|uniprotkb:MYH9(gene name)|psi-mi:MYH9(display_short)|uniprotkb:Myosin heavy chain 9(gene name synonym)|uniprotkb:Myosin heavy chain, non-muscle IIa(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain IIa(gene name synonym)|uniprotkb:Cellular myosin heavy chain, type A(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002464.1|ensembl:ENSG00000100345(gene)|ensembl:ENST00000216181(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0000212"(meiotic spindle organization)|go:"GO:0001525"(angiogenesis)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0001725"(stress fiber)|go:"GO:0001726"(ruffle)|go:"GO:0001768"(establishment of T cell polarity)|go:"GO:0001772"(immunological synapse)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0001931"(uropod)|go:"GO:0003723"(RNA binding)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005819"(spindle)|go:"GO:0005826"(actomyosin contractile ring)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0006509"(membrane protein ectodomain proteolysis)|go:"GO:0006911"(phagocytosis, engulfment)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0007520"(myoblast fusion)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0009898"(cytoplasmic side of plasma membrane)|go:"GO:0015031"(protein transport)|refseq:XP_011528499.1|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016460"(myosin II complex)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030220"(platelet formation)|go:"GO:0030224"(monocyte differentiation)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0031252"(cell leading edge)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0032154"(cleavage furrow)|go:"GO:0032418"(lysosome localization)|go:"GO:0032506"(cytokinetic process)|go:"GO:0032796"(uropod organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042641"(actomyosin)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043495"(protein-membrane adaptor activity)|go:"GO:0043531"(ADP binding)|go:"GO:0043534"(blood vessel endothelial cell migration)|go:"GO:0045055"(regulated exocytosis)|go:"GO:0045296"(cadherin binding)|go:"GO:0050900"(leukocyte migration)|go:"GO:0051015"(actin filament binding)|go:"GO:0051295"(establishment of meiotic spindle localization)|go:"GO:0060471"(cortical granule exocytosis)|go:"GO:0060473"(cortical granule)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0097513"(myosin II filament)|go:"GO:1903919"(negative regulation of actin filament severing)|rcsb pdb:4CFR|rcsb pdb:4ETO|reactome:R-HSA-1445148|reactome:R-HSA-2029482|reactome:R-HSA-3928663|reactome:R-HSA-416572|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9662834|reactome:R-HSA-9664422|go:"GO:1903923"(positive regulation of protein processing in phagocytic vesicle)|go:"GO:1905684"(regulation of plasma membrane repair)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002928(Myosin tail)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR008989(Myosin S1 fragment, N-terminal)|interpro:IPR027417|interpro:IPR036305|interpro:IPR036961|mint:P35579|rcsb pdb:2LNK|rcsb pdb:3ZWH|rcsb pdb:4CFQ|refseq:XP_016884292.1|refseq:XP_016884293.1|refseq:XP_016884294.1|refseq:XP_016884295.1|dip:DIP-33103N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fSOtpFpr8PSnAG5UdAr/khwkzJs9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96MY1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6660790|ensembl:ENSP00000352704|uniprotkb:Q9NQF6|uniprotkb:Q9BR34|uniprotkb:Q6P0Y4|uniprotkb:Q5JYB7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nol4l_human(display_long)|uniprotkb:NOL4L(gene name)|psi-mi:NOL4L(display_short)|uniprotkb:C20orf112(gene name synonym)|uniprotkb:C20orf113(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_016883158.1|ensembl:ENSG00000197183(gene)|ensembl:ENST00000359676(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|interpro:IPR026746|interpro:IPR039788|refseq:NP_001243727.1|refseq:NP_542183.2|refseq:XP_005260345.1|refseq:XP_005260346.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:r1tkeJjKBiM9H7BO/1RzYKi5fvA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O95425 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-487145|uniprotkb:O60611|uniprotkb:O60612|uniprotkb:Q5VZK5|uniprotkb:Q5VZK6|uniprotkb:Q9H1R7|uniprotkb:D3DRW9|ensembl:ENSP00000348128|uniprotkb:M1J557 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:svil_human(display_long)|uniprotkb:Archvillin(gene name synonym)|uniprotkb:p205/p250(gene name synonym)|uniprotkb:SVIL(gene name)|psi-mi:SVIL(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0007519"(skeletal muscle tissue development)|refseq:NP_003165.2|refseq:NP_068506.2|ensembl:ENSG00000197321(gene)|ensembl:ENST00000355867(transcript)|go:"GO:0002102"(podosome)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|interpro:IPR007123(Gelsolin region)|interpro:IPR015628(Supervillin)|interpro:IPR029006|interpro:IPR036886|mint:O95425|rcsb pdb:2K6M|rcsb pdb:2K6N|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030496"(midbody)|go:"GO:0032154"(cleavage furrow)|go:"GO:0032467"(positive regulation of cytokinesis)|go:"GO:0036449"(microtubule minus-end)|go:"GO:0042995"(cell projection)|go:"GO:0043034"(costamere)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|interpro:IPR003128(Villin headpiece)|interpro:IPR007122(Gelsolin) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5FaBAFdOX+nPJzTwEdBt8e5Keng9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UHB6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351479|uniprotkb:Q2TAN7|uniprotkb:Q9BVF2|uniprotkb:Q9H8J1|uniprotkb:Q9HBN5|uniprotkb:Q9NX96|uniprotkb:Q9NXC3|uniprotkb:Q9NXU6|uniprotkb:Q9P0H8|uniprotkb:Q9UHB5|uniprotkb:B2RB09|ensembl:ENSP00000340184|uniprotkb:Q59FE8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lima1_human(display_long)|uniprotkb:PP624(orf name)|uniprotkb:LIMA1(gene name)|psi-mi:LIMA1(display_short)|uniprotkb:SREBP3(gene name synonym)|uniprotkb:Epithelial protein lost in neoplasm(gene name synonym)|uniprotkb:EPLIN(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001107018.1|refseq:NP_001107019.1|refseq:NP_057441.1|refseq:XP_011536757.1|ensembl:ENSG00000050405(gene)|ensembl:ENST00000341247(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0001726"(ruffle)|go:"GO:0003785"(actin monomer binding)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016477"(cell migration)|go:"GO:0030299"(intestinal cholesterol absorption)|go:"GO:0030835"(negative regulation of actin filament depolymerization)|go:"GO:0031526"(brush border membrane)|go:"GO:0031529"(ruffle organization)|go:"GO:0032154"(cleavage furrow)|go:"GO:0042632"(cholesterol homeostasis)|go:"GO:0045296"(cadherin binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0051017"(actin filament bundle assembly)|interpro:IPR001781(Zinc finger, LIM-type)|interpro:IPR028740|mint:Q9UHB6|rcsb pdb:2D8Y|refseq:NP_001230704.1|refseq:XP_016874919.1|dip:DIP-29633N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:sHqhe21LVzLJXgDMH6IcWukKNHE9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75362 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6597704|ensembl:ENSP00000304308|ensembl:ENSP00000360526|uniprotkb:E1P5Y6|uniprotkb:Q14DB8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn217_human(display_long)|uniprotkb:ZNF217(gene name)|psi-mi:ZNF217(display_short)|uniprotkb:ZABC1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000171940(gene)|ensembl:ENST00000302342(transcript)|ensembl:ENST00000371471(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000976"(transcription cis-regulatory region binding)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0016607"(nuclear speck)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|rcsb pdb:2HU2|rcsb pdb:3UK3|rcsb pdb:4F2J|rcsb pdb:4IS1|reactome:R-HSA-9018519|refseq:NP_006517.1|refseq:XP_016883548.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:E65TwYRj7QeQtQbTWV8q91QlwQk9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P60709 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353944|uniprotkb:P02570|uniprotkb:P70514|uniprotkb:P99021|uniprotkb:Q11211|uniprotkb:Q64316|uniprotkb:Q75MN2|uniprotkb:Q96B34|uniprotkb:Q96HG5|ensembl:ENSP00000494269|ensembl:ENSP00000494750|ensembl:ENSP00000495995|ensembl:ENSP00000501862|ensembl:ENSP00000502821 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actb_human(display_long)|uniprotkb:ACTB(gene name)|psi-mi:ACTB(display_short)|uniprotkb:Beta-actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001092.1|ensembl:ENSG00000075624(gene)|ensembl:ENST00000493945(transcript)|ensembl:ENST00000642480(transcript)|ensembl:ENST00000646664(transcript)|ensembl:ENST00000674681(transcript)|ensembl:ENST00000675515(transcript)|go:"GO:0000079"(regulation of cyclin-dependent protein serine/threonine kinase activity)|go:"GO:0000785"(chromatin)|go:"GO:0001738"(morphogenesis of a polarized epithelium)|go:"GO:0001895"(retina homeostasis)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0007163"(establishment or maintenance of cell polarity)|go:"GO:0007409"(axonogenesis)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0019894"(kinesin binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0021762"(substantia nigra development)|go:"GO:0022898"(regulation of transmembrane transporter activity)|go:"GO:0030027"(lamellipodium)|go:"GO:0030424"(axon)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0030957"(Tat protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034333"(adherens junction assembly)|go:"GO:0035267"(NuA4 histone acetyltransferase complex)|go:"GO:0035633"(maintenance of blood-brain barrier)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042802"(identical protein binding)|go:"GO:0043044"|go:"GO:0043296"(apical junction complex)|go:"GO:0044305"(calyx of Held)|go:"GO:0045176"(apical protein localization)|go:"GO:0045202"(synapse)|go:"GO:0048156"(tau protein binding)|go:"GO:0048488"(synaptic vesicle endocytosis)|go:"GO:0048870"(cell motility)|go:"GO:0050998"(nitric-oxide synthase binding)|go:"GO:0051621"(regulation of norepinephrine uptake)|go:"GO:0051623"(positive regulation of norepinephrine uptake)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070160"(tight junction)|go:"GO:0070527"(platelet aggregation)|reactome:R-HSA-4420097|go:"GO:0071896"(protein localization to adherens junction)|go:"GO:0072562"(blood microparticle)|go:"GO:0072749"(cellular response to cytochalasin B)|go:"GO:0097433"(dense body)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0098793"(presynapse)|go:"GO:0098871"(postsynaptic actin cytoskeleton)|go:"GO:0098973"(structural constituent of postsynaptic actin cytoskeleton)|go:"GO:0098974"(postsynaptic actin cytoskeleton organization)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0150111"(regulation of transepithelial transport)|go:"GO:1903076"(regulation of protein localization to plasma membrane)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:P60709|rcsb pdb:3BYH|rcsb pdb:3D2U|rcsb pdb:3J82|rcsb pdb:3LUE|rcsb pdb:6ANU|rcsb pdb:6ICT|rcsb pdb:6ICV|rcsb pdb:6LTJ|rcsb pdb:6MBJ|rcsb pdb:6MBK|rcsb pdb:6MBL|rcsb pdb:6NBW|rcsb pdb:6OX0|rcsb pdb:6OX1|rcsb pdb:6OX2|rcsb pdb:6OX3|rcsb pdb:6OX4|rcsb pdb:6OX5|rcsb pdb:6V62|rcsb pdb:6V63|rcsb pdb:6WK1|rcsb pdb:6WK2|rcsb pdb:7AS4|reactome:R-HSA-1445148|reactome:R-HSA-190873|reactome:R-HSA-196025|reactome:R-HSA-2029482|reactome:R-HSA-3214847|reactome:R-HSA-389957|reactome:R-HSA-390450|reactome:R-HSA-3928662|reactome:R-HSA-3928665|reactome:R-HSA-418990|reactome:R-HSA-437239|reactome:R-HSA-446353|reactome:R-HSA-5250924|reactome:R-HSA-5626467|reactome:R-HSA-5663213|reactome:R-HSA-5663220|reactome:R-HSA-5674135|reactome:R-HSA-5689603|reactome:R-HSA-5696394|reactome:R-HSA-6802946|reactome:R-HSA-6802948|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-8856828|reactome:R-HSA-9035034|reactome:R-HSA-9649948|reactome:R-HSA-9656223|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9664422|reactome:R-HSA-983231|reactome:R-HSA-445095|dip:DIP-29686N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Hoge1B8Pn56kvbNTpkSLsQuHwRc9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BUA3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1773488|uniprotkb:Q68CV7|uniprotkb:Q6PHS2|uniprotkb:Q96IH0|ensembl:ENSP00000294244 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:spndc_human(display_long)|uniprotkb:SPINDOC(gene name)|psi-mi:SPINDOC(display_short)|uniprotkb:C11orf84(gene name synonym)|uniprotkb:SPIN1-docking protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_612480.1|ensembl:ENSG00000168005(gene)|ensembl:ENST00000294244(transcript)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|interpro:IPR040647|rcsb pdb:7CNA intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:E2x/R+y2xIJL91JjJ9ShbFFJL5g9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14974 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351726|uniprotkb:Q2NKL4|uniprotkb:Q569H0|uniprotkb:Q86WU3|uniprotkb:Q8NFR6|uniprotkb:Q9BYH0|intact:EBI-28988491|uniprotkb:B4DZ09|uniprotkb:F8VWB4|ensembl:ENSP00000261207|ensembl:ENSP00000389168 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mypt1_human(display_long)|uniprotkb:PPP1R12A(gene name)|psi-mi:PPP1R12A(display_short)|uniprotkb:MBS(gene name synonym)|uniprotkb:MYPT1(gene name synonym)|uniprotkb:Myosin phosphatase-targeting subunit 1(gene name synonym)|uniprotkb:Protein phosphatase myosin-binding subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001137357.1|refseq:NP_001137358.1|refseq:NP_002471.1|refseq:NP_001231919.1|refseq:NP_001231921.1|refseq:XP_011536685.1|ensembl:ENSP00000261207|ensembl:ENST00000437004|ensembl:ENSP00000416769|ensembl:ENSP00000389168|ensembl:ENSP00000449514|ensembl:ENST00000550107|ensembl:ENSP00000446855|ensembl:ENST00000546369|dip:DIP-33186N|ensembl:ENSG00000058272(gene)|ensembl:ENST00000261207(transcript)|ensembl:ENST00000450142(transcript)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0000776"(kinetochore)|go:"GO:0004857"(enzyme inhibitor activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007098"(centrosome cycle)|go:"GO:0007165"(signal transduction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0019208"(phosphatase regulator activity)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030018"(Z disc)|go:"GO:0030155"(regulation of cell adhesion)|go:"GO:0031672"(A band)|go:"GO:0035507"(regulation of myosin-light-chain-phosphatase activity)|go:"GO:0035508"(positive regulation of myosin-light-chain-phosphatase activity)|go:"GO:0035690"|go:"GO:0043086"(negative regulation of catalytic activity)|go:"GO:0043292"(contractile fiber)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046822"(regulation of nucleocytoplasmic transport)|go:"GO:0071889"(14-3-3 protein binding)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|interpro:IPR002110(Ankyrin)|interpro:IPR017401(Protein phosphatase 1, regulatory subunits 12A/B/C, eukaryote)|interpro:IPR020683|interpro:IPR031775|interpro:IPR036770|mint:O14974|rcsb pdb:2KJY|rcsb pdb:5HUZ|reactome:R-HSA-2565942|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Xi5lGskc0tWQCHtbYlgR45ERMSk9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11021 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354921|ensembl:ENSP00000324173|uniprotkb:Q2EF78|uniprotkb:Q9NPF1|uniprotkb:Q9UK02|uniprotkb:B0QZ61 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:bip_human(display_long)|uniprotkb:HSPA5(gene name)|psi-mi:HSPA5(display_short)|uniprotkb:GRP78(gene name synonym)|uniprotkb:Immunoglobulin heavy chain-binding protein(gene name synonym)|uniprotkb:78 kDa glucose-regulated protein(gene name synonym)|uniprotkb:Binding-immunoglobulin protein(gene name synonym)|uniprotkb:Heat shock protein 70 family protein 5(gene name synonym)|uniprotkb:Heat shock protein family A member 5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000044574(gene)|ensembl:ENST00000324460(transcript)|go:"GO:0001554"(luteolysis)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006983"(ER overload response)|refseq:NP_005338.1|go:"GO:0009986"(cell surface)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0016020"(membrane)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0021589"(cerebellum structural organization)|go:"GO:0021680"(cerebellar Purkinje cell layer development)|go:"GO:0021762"(substantia nigra development)|go:"GO:0030176"(integral component of endoplasmic reticulum membrane)|go:"GO:0030182"(neuron differentiation)|go:"GO:0030433"(ubiquitin-dependent ERAD pathway)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030496"(midbody)|go:"GO:0030512"(negative regulation of transforming growth factor beta receptor signaling pathway)|go:"GO:0030968"(endoplasmic reticulum unfolded protein response)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0031204"(posttranslational protein targeting to membrane, translocation)|go:"GO:0031333"(negative regulation of protein-containing complex assembly)|go:"GO:0031398"(positive regulation of protein ubiquitination)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034620"(cellular response to unfolded protein)|go:"GO:0034663"(endoplasmic reticulum chaperone complex)|go:"GO:0034975"(protein folding in endoplasmic reticulum)|go:"GO:0035437"(maintenance of protein localization in endoplasmic reticulum)|go:"GO:0035690"|go:"GO:0042026"(protein refolding)|go:"GO:0042149"(cellular response to glucose starvation)|go:"GO:0042220"(response to cocaine)|go:"GO:0042470"(melanosome)|go:"GO:0043022"(ribosome binding)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0045296"(cadherin binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051085"(chaperone cofactor-dependent protein refolding)|go:"GO:0051087"(chaperone binding)|go:"GO:0051402"(neuron apoptotic process)|go:"GO:0051787"(misfolded protein binding)|go:"GO:0060904"(regulation of protein folding in endoplasmic reticulum)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071236"(cellular response to antibiotic)|go:"GO:0071277"(cellular response to calcium ion)|go:"GO:0071287"(cellular response to manganese ion)|go:"GO:0071320"(cellular response to cAMP)|go:"GO:0071353"(cellular response to interleukin-4)|go:"GO:0071480"(cellular response to gamma radiation)|go:"GO:0097501"(stress response to metal ion)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1901998"(toxin transport)|go:"GO:1903891"(regulation of ATF6-mediated unfolded protein response)|go:"GO:1903894"(regulation of IRE1-mediated unfolded protein response)|go:"GO:1903895"(negative regulation of IRE1-mediated unfolded protein response)|go:"GO:1903897"(regulation of PERK-mediated unfolded protein response)|go:"GO:1904313"(response to methamphetamine hydrochloride)|go:"GO:1990090"(cellular response to nerve growth factor stimulus)|go:"GO:1990440"(positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress)|interpro:IPR013126(Heat shock protein 70)|interpro:IPR018181|interpro:IPR029047|interpro:IPR029048|interpro:IPR042050|interpro:IPR043129|mint:P11021|rcsb pdb:3IUC|rcsb pdb:3LDL|rcsb pdb:3LDN|rcsb pdb:3LDO|rcsb pdb:3LDP|rcsb pdb:5E84|rcsb pdb:5E85|rcsb pdb:5E86|rcsb pdb:5EVZ|rcsb pdb:5EX5|rcsb pdb:5EXW|rcsb pdb:5EY4|rcsb pdb:5F0X|rcsb pdb:5F1X|rcsb pdb:5F2R|rcsb pdb:6ASY|rcsb pdb:6CZ1|rcsb pdb:6DFM|rcsb pdb:6DFO|rcsb pdb:6DO2|rcsb pdb:6DWS|rcsb pdb:6ZMD|reactome:R-HSA-114608|reactome:R-HSA-3371453|reactome:R-HSA-381033|reactome:R-HSA-381042|reactome:R-HSA-381070|reactome:R-HSA-381183|reactome:R-HSA-983170|dip:DIP-33189N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:O8nTjCciNhD3QsbZmbolQ1IIMn49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14744 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351098|uniprotkb:Q6IBR1|uniprotkb:A8MZ91|uniprotkb:Q9UKH1|uniprotkb:B5BU10|uniprotkb:D3DS33|ensembl:ENSP00000319169|uniprotkb:A8MTP3|uniprotkb:B4DX49|uniprotkb:B4DY30|uniprotkb:E2QRE7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:anm5_human(display_long)|uniprotkb:PRMT5(gene name)|psi-mi:PRMT5(display_short)|uniprotkb:IBP72(gene name synonym)|uniprotkb:JBP1(gene name synonym)|uniprotkb:HRMT1L5(gene name synonym)|uniprotkb:Shk1 kinase-binding protein 1 homolog(gene name synonym)|uniprotkb:Jak-binding protein 1(gene name synonym)|uniprotkb:72 kDa ICln-binding protein(gene name synonym)|uniprotkb:SKB1(gene name synonym)|uniprotkb:Histone-arginine N-methyltransferase PRMT5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001034708.1|refseq:NP_006100.2|refseq:NP_001269882.1|refseq:NP_001269884.1|refseq:NP_001269885.1|ensembl:ENSG00000100462(gene)|ensembl:ENST00000324366(transcript)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0000785"(chromatin)|go:"GO:0002039"(p53 binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006353"(DNA-templated transcription, termination)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0007088"(regulation of mitotic nuclear division)|go:"GO:0008168"(methyltransferase activity)|go:"GO:0008327"(methyl-CpG binding)|go:"GO:0008469"(histone-arginine N-methyltransferase activity)|go:"GO:0016274"(protein-arginine N-methyltransferase activity)|go:"GO:0018216"(peptidyl-arginine methylation)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0034709"(methylosome)|go:"GO:0034969"(histone arginine methylation)|go:"GO:0035097"(histone methyltransferase complex)|go:"GO:0035243"(protein-arginine omega-N symmetric methyltransferase activity)|go:"GO:0035246"(peptidyl-arginine N-methylation)|go:"GO:0042118"(endothelial cell activation)|go:"GO:0042802"(identical protein binding)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0043985"(histone H4-R3 methylation)|go:"GO:0044020"("histone methyltransferase activity (H4-R3 specific)")|go:"GO:0044030"(regulation of DNA methylation)|go:"GO:0045596"(negative regulation of cell differentiation)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|go:"GO:0070372"(regulation of ERK1 and ERK2 cascade)|go:"GO:0070888"(E-box binding)|go:"GO:0090161"(Golgi ribbon formation)|go:"GO:0097421"(liver regeneration)|go:"GO:1901796"(regulation of signal transduction by p53 class mediator)|interpro:IPR007857(Skb1 methyltransferase)|interpro:IPR025799|interpro:IPR029063|interpro:IPR035075|interpro:IPR035247|interpro:IPR035248|mint:O14744|rcsb pdb:4GQB|rcsb pdb:4X60|rcsb pdb:4X61|rcsb pdb:4X63|rcsb pdb:5C9Z|rcsb pdb:5EMJ|rcsb pdb:5EMK|rcsb pdb:5EML|rcsb pdb:5EMM|rcsb pdb:5FA5|rcsb pdb:6CKC|rcsb pdb:6K1S|rcsb pdb:6RLL|rcsb pdb:6RLQ|rcsb pdb:6UGH|rcsb pdb:6UXX|rcsb pdb:6UXY|rcsb pdb:6V0N|rcsb pdb:6V0O|rcsb pdb:6V0P|rcsb pdb:7KIB|rcsb pdb:7KIC|rcsb pdb:7KID|rcsb pdb:7L1G|rcsb pdb:7M05|reactome:R-HSA-191859|reactome:R-HSA-3214858|reactome:R-HSA-6804760|go:"GO:1904992"(positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway)|dip:DIP-33172N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:EwePjCDiU/fiuKOO+wnoYQ8I57I9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P98175 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-721525|uniprotkb:Q14136|uniprotkb:C4AM81|uniprotkb:Q9BTE4|intact:EBI-1642096|intact:EBI-739959|uniprotkb:Q5JRR2|uniprotkb:Q9BTX0|uniprotkb:Q9NTB1|uniprotkb:A0A0A0MR66|ensembl:ENSP00000366829 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rbm10_human(display_long)|uniprotkb:RNA-binding motif protein 10(gene name synonym)|uniprotkb:G patch domain-containing protein 9(gene name synonym)|uniprotkb:RBM10(gene name)|psi-mi:RBM10(display_short)|uniprotkb:KIAA0122(gene name synonym)|uniprotkb:DXS8237E(gene name synonym)|uniprotkb:GPATC9(gene name synonym)|uniprotkb:GPATCH9(gene name synonym)|uniprotkb:RNA-binding protein S1-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001191395.1|refseq:NP_001191396.1|refseq:NP_005667.2|refseq:NP_690595.1|refseq:NP_001191397.1|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR033095|interpro:IPR034992|interpro:IPR035618|interpro:IPR035979|interpro:IPR036443|interpro:IPR041591|mint:P98175|rcsb pdb:2LXI|rcsb pdb:2M2B|rcsb pdb:2MXV|rcsb pdb:2MXW|rcsb pdb:5ZSW|rcsb pdb:5ZSY|ensembl:ENSG00000182872(gene)|ensembl:ENST00000377604(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016607"(nuclear speck)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034393"(positive regulation of smooth muscle cell apoptotic process)|go:"GO:0035198"(miRNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0048025"(negative regulation of mRNA splicing, via spliceosome)|go:"GO:0070935"(3'-UTR-mediated mRNA stabilization)|interpro:IPR000467(D111/G-patch)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR001876(Zinc finger, RanBP2-type)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LOhPGCjbvCh2MDG5JRHlrMrElW49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13813 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351450|uniprotkb:Q13186|uniprotkb:Q15324|uniprotkb:Q16606|uniprotkb:Q59EF1|uniprotkb:Q5VXV5|uniprotkb:Q5VXV6|uniprotkb:Q7Z6M5|uniprotkb:Q9P0V0|intact:EBI-4404719|intact:EBI-28985930|ensembl:ENSP00000361816 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sptn1_human(display_long)|uniprotkb:SPTAN1(gene name)|psi-mi:SPTAN1(display_short)|uniprotkb:SPTA2(gene name synonym)|uniprotkb:Alpha-II spectrin(gene name synonym)|uniprotkb:Fodrin alpha chain(gene name synonym)|uniprotkb:NEAS(gene name synonym)|uniprotkb:Spectrin, non-erythroid alpha subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001123910.1|refseq:NP_001182461.1|refseq:NP_003118.2|ensembl:ENSG00000197694(gene)|ensembl:ENST00000372731(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005829"(cytosol)|go:"GO:0008091"(spectrin)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0035580"(specific granule lumen)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045296"(cadherin binding)|go:"GO:0051693"(actin filament capping)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1904724"(tertiary granule lumen)|interpro:IPR001452(Src homology-3)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR014837(EF-hand, Ca insensitive)|interpro:IPR018159|interpro:IPR018247|interpro:IPR035825|interpro:IPR036028|mint:Q13813|rcsb pdb:2FOT|rcsb pdb:3F31|rcsb pdb:3FB2|rcsb pdb:5FW9|rcsb pdb:5FWB|rcsb pdb:5FWC|rcsb pdb:6ZEH|reactome:R-HSA-264870|reactome:R-HSA-373753|reactome:R-HSA-375165|reactome:R-HSA-445095|reactome:R-HSA-5673001|reactome:R-HSA-6798695|reactome:R-HSA-6807878|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9662360|reactome:R-HSA-9662361|ensembl:ENST00000358161|ensembl:ENSP00000350882|ensembl:ENSP00000361816|ensembl:ENST00000372739|ensembl:ENSP00000361824|dip:DIP-33141N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3d5XlsH+PSg32qNR/ZiooAJ/wH89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5M775 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350473|uniprotkb:Q5IBP1|uniprotkb:Q5IBP2|uniprotkb:Q5IBP3|uniprotkb:Q5IBP4|uniprotkb:Q5M772|uniprotkb:Q5M773|uniprotkb:Q5M774|uniprotkb:Q86XT8|uniprotkb:Q8N4U4|uniprotkb:Q8WU84|uniprotkb:Q9HCQ3|uniprotkb:B4DHH0|ensembl:ENSP00000261503|ensembl:ENSP00000378898|ensembl:ENSP00000502924|ensembl:ENSP00000503971|ensembl:ENSP00000504211|uniprotkb:B7WNS8|intact:EBI-2556892 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cytsb_human(display_long)|uniprotkb:Nuclear structure protein 5(gene name synonym)|uniprotkb:Sperm antigen HCMOGT-1(gene name synonym)|uniprotkb:SPECC1(gene name)|psi-mi:SPECC1(display_short)|uniprotkb:CYTSB(gene name synonym)|uniprotkb:Sperm antigen with calponin homology and coiled-coil domains 1(gene name synonym)|uniprotkb:NSP5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001028725.1|refseq:NP_001028726.1|refseq:NP_001028727.1|refseq:NP_001230367.1|refseq:NP_001230368.1|refseq:NP_690868.3|ensembl:ENSG00000128487(gene)|ensembl:ENST00000261503(transcript)|ensembl:ENST00000395527(transcript)|ensembl:ENST00000677914(transcript)|ensembl:ENST00000679058(transcript)|ensembl:ENST00000679255(transcript)|go:"GO:0001650"(fibrillar center)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0016020"(membrane)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0031941"(filamentous actin)|go:"GO:0043231"(intracellular membrane-bounded organelle)|interpro:IPR036872|mint:Q5M775|interpro:IPR001715(Calponin-like actin-binding)|refseq:XP_016880814.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iF+19RpfJDyn5whTFnPmDxxECz09606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BQA1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1237307|uniprotkb:B3KMW6|uniprotkb:Q96GK4|uniprotkb:Q9BWY3|uniprotkb:Q3LID2|uniprotkb:Q53FU2|uniprotkb:Q6JZZ5|uniprotkb:B4DP38|ensembl:ENSP00000235090 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mep50_human(display_long)|uniprotkb:WDR77(gene name)|psi-mi:WDR77(display_short)|uniprotkb:MEP50(gene name synonym)|uniprotkb:WD repeat-containing protein 77(gene name synonym)|uniprotkb:Androgen receptor cofactor p44(gene name synonym)|uniprotkb:p44/Mep50(gene name synonym)|uniprotkb:HKMT1069(orf name)|uniprotkb:Nbla10071(orf name)|uniprotkb:WD45(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_077007.1|refseq:NP_001303991.1|refseq:NP_001303992.1|refseq:NP_001303993.1|dip:DIP-38172N|ensembl:ENSG00000116455(gene)|ensembl:ENST00000235090(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007315"(pole plasm assembly)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008327"(methyl-CpG binding)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0034709"(methylosome)|go:"GO:0045495"(pole plasm)|go:"GO:0060528"(secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development)|go:"GO:0060770"(negative regulation of epithelial cell proliferation involved in prostate gland development)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR036322|mint:Q9BQA1|rcsb pdb:4GQB|rcsb pdb:4X60|rcsb pdb:4X61|rcsb pdb:4X63|rcsb pdb:5C9Z|rcsb pdb:5EMJ|rcsb pdb:5EMK|rcsb pdb:5EML|rcsb pdb:5EMM|rcsb pdb:5FA5|rcsb pdb:6CKC|rcsb pdb:6K1S|rcsb pdb:6RLL|rcsb pdb:6RLQ|rcsb pdb:6UGH|rcsb pdb:6UXX|rcsb pdb:6UXY|rcsb pdb:6V0N|rcsb pdb:6V0O|rcsb pdb:6V0P|rcsb pdb:7KIB|rcsb pdb:7KIC|rcsb pdb:7KID|rcsb pdb:7L1G|rcsb pdb:7M05|reactome:R-HSA-191859|reactome:R-HSA-3214858 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0q4wunYtHalObC8r1wphhelIpr49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P56545 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-741533|uniprotkb:O43449|uniprotkb:Q5SQP7|uniprotkb:Q69YI3|uniprotkb:Q86SV0|uniprotkb:Q9H2T8|uniprotkb:A8K2X5|ensembl:ENSP00000338615|ensembl:ENSP00000410474|ensembl:ENSP00000434630|ensembl:ENSP00000436285|uniprotkb:D3DRF5|uniprotkb:Q8IY44|intact:EBI-11742664 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ctbp2_human(display_long)|uniprotkb:CTBP2(gene name)|psi-mi:CTBP2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001077383.1|refseq:NP_001320.1|refseq:NP_073713.2|refseq:NP_001307943.1|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098882"(structural constituent of presynaptic active zone)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0099523"(presynaptic cytosol)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:P56545|rcsb pdb:2OME|rcsb pdb:4LCJ|rcsb pdb:6WKW|reactome:R-HSA-4641265|reactome:R-HSA-5339700|reactome:R-HSA-9662360|go:"GO:0048386"(positive regulation of retinoic acid receptor signaling pathway)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0098684"(photoreceptor ribbon synapse)|ensembl:ENSG00000175029(gene)|ensembl:ENST00000337195(transcript)|ensembl:ENST00000411419(transcript)|ensembl:ENST00000494626(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|ensembl:ENST00000531469(transcript)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016081"(synaptic vesicle docking)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019901"(protein kinase binding)|go:"GO:0035563"(positive regulation of chromatin binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0042974"(retinoic acid receptor binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|refseq:XP_011537653.1|refseq:XP_011537655.1|refseq:XP_011537656.1|refseq:XP_011537657.1|refseq:NP_001307941.1|refseq:NP_001307942.1|refseq:XP_005269618.1|refseq:XP_005269621.1|refseq:XP_005269624.1|refseq:XP_005269625.1|refseq:XP_005269626.1|refseq:XP_005269628.1|refseq:XP_005269629.1|refseq:NP_001277143.1|refseq:NP_001277144.1|refseq:XP_006717705.1|refseq:XP_016871245.1|refseq:XP_016871246.1|dip:DIP-42104N|refseq:XP_011537651.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6sKiqjMRW/ViEvTbQJoaUjgvZtc9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F5H5D3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-16421287|ensembl:ENSP00000443475 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f5h5d3_human(display_long)|uniprotkb:TUBA1C(gene name)|psi-mi:TUBA1C(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000167553(gene)|ensembl:ENST00000541364(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0015630"(microtubule cytoskeleton)|interpro:IPR000217(Tubulin)|interpro:IPR002452(Alpha tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|refseq:NP_001290043.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:BPFi0oTuMH5kqvYU8ASeyTdB+y89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15208 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-458376|ensembl:ENSP00000229812|uniprotkb:Q503A1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:stk38_human(display_long)|uniprotkb:NDR1(gene name synonym)|uniprotkb:STK38(gene name)|psi-mi:STK38(display_short)|uniprotkb:NDR1 protein kinase(gene name synonym)|uniprotkb:Nuclear Dbf2-related kinase 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000112079(gene)|ensembl:ENST00000229812(transcript)|go:"GO:0000287"(magnesium ion binding)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006464"(cellular protein modification process)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0018105"(peptidyl-serine phosphorylation)|go:"GO:0031435"(mitogen-activated protein kinase kinase kinase binding)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045296"(cadherin binding)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|interpro:IPR000719(Protein kinase, core)|interpro:IPR000961(Protein kinase, C-terminal)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR017892|mint:Q15208|rcsb pdb:1PSB|rcsb pdb:6BXI|reactome:R-HSA-9013418|reactome:R-HSA-9013422|refseq:NP_009202.1|refseq:XP_006715051.1|refseq:XP_006715052.1|refseq:NP_001292031.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YHzdDrPEH6YdhOXtcnLWArqftck9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68032 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352273|uniprotkb:P04270|ensembl:ENSP00000290378 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actc_human(display_long)|uniprotkb:ACTC1(gene name)|psi-mi:ACTC1(display_short)|uniprotkb:ACTC(gene name synonym)|uniprotkb:Alpha-cardiac actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005150.1|ensembl:ENSG00000159251(gene)|ensembl:ENST00000290378(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005869"(dynactin complex)|go:"GO:0005884"(actin filament)|go:"GO:0005925"(focal adhesion)|go:"GO:0007015"(actin filament organization)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0017022"(myosin binding)|go:"GO:0030017"(sarcomere)|go:"GO:0030027"(lamellipodium)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030175"(filopodium)|go:"GO:0030240"(skeletal muscle thin filament assembly)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0031674"(I band)|go:"GO:0033275"(actin-myosin filament sliding)|go:"GO:0042493"|go:"GO:0044297"(cell body)|go:"GO:0045471"(response to ethanol)|go:"GO:0055003"(cardiac myofibril assembly)|go:"GO:0055008"(cardiac muscle tissue morphogenesis)|go:"GO:0060047"(heart contraction)|go:"GO:0060048"(cardiac muscle contraction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:0090131"(mesenchyme migration)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:P68032|reactome:R-HSA-390522|reactome:R-HSA-8980692|reactome:R-HSA-9013026 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:U/lKYqWUWMSC3fBHFaAcgzfk+3w9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P07437 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350864|uniprotkb:P05218|uniprotkb:Q8WUC1|uniprotkb:Q9CY33|ensembl:ENSP00000339001|ensembl:ENSP00000373058|ensembl:ENSP00000399155|ensembl:ENSP00000400663|ensembl:ENSP00000401317|ensembl:ENSP00000406811|ensembl:ENSP00000410071|ensembl:ENSP00000410829 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb5_human(display_long)|uniprotkb:TUBB(gene name)|psi-mi:TUBB(display_short)|uniprotkb:Tubulin beta-5 chain(gene name synonym)|uniprotkb:TUBB5(gene name synonym)|uniprotkb:OK/SW-cl.56(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_821133.1|refseq:NP_001280141.1|refseq:NP_001280142.1|refseq:NP_001280143.1|refseq:NP_001280144.1|refseq:NP_001280145.1|ensembl:ENSG00000183311(gene)|ensembl:ENSG00000196230(gene)|ensembl:ENSG00000224156(gene)|ensembl:ENSG00000227739(gene)|ensembl:ENSG00000229684(gene)|ensembl:ENSG00000232421(gene)|ensembl:ENSG00000232575(gene)|ensembl:ENSG00000235067(gene)|ensembl:ENST00000327892(transcript)|ensembl:ENST00000383564(transcript)|ensembl:ENST00000419792(transcript)|ensembl:ENST00000421473(transcript)|ensembl:ENST00000422650(transcript)|ensembl:ENST00000422674(transcript)|ensembl:ENST00000432462(transcript)|ensembl:ENST00000436628(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005641"(nuclear envelope lumen)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005874"(microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0009987"(cellular process)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030705"(cytoskeleton-dependent intracellular transport)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032794"(GTPase activating protein binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042267"(natural killer cell mediated cytotoxicity)|go:"GO:0042288"(MHC class I protein binding)|go:"GO:0044297"(cell body)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045121"(membrane raft)|go:"GO:0051225"(spindle assembly)|go:"GO:0051301"(cell division)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P07437|rcsb pdb:3QNZ|rcsb pdb:3QO0|rcsb pdb:5N5N|rcsb pdb:6I2I|rcsb pdb:6QUS|rcsb pdb:6QUY|rcsb pdb:6QVE|rcsb pdb:6QVJ|reactome:R-HSA-2565942|go:"GO:0050807"(regulation of synapse organization)|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-5620912|reactome:R-HSA-6798695|reactome:R-HSA-8854518|reactome:R-HSA-9679191|reactome:R-HSA-380320|dip:DIP-32772N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B6pmb1dvCroZXGd/1Zazi+s72GA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06396 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351506|uniprotkb:Q8WVV7|ensembl:ENSP00000362924|uniprotkb:Q5T0I2|uniprotkb:A8MUD1|uniprotkb:B7Z373|uniprotkb:A2A418|uniprotkb:A8MYN7|uniprotkb:B7Z5V1|uniprotkb:F5H1A8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gels_human(display_long)|uniprotkb:GSN(gene name)|psi-mi:GSN(display_short)|uniprotkb:Actin-depolymerizing factor(gene name synonym)|uniprotkb:Brevin(gene name synonym)|uniprotkb:AGEL(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000168.1|refseq:NP_001121134.1|refseq:NP_001121136.1|refseq:NP_001121137.1|refseq:NP_001121138.1|refseq:NP_001121139.1|refseq:NP_937895.1|refseq:XP_011516888.1|refseq:XP_011516889.1|refseq:XP_011516890.1|refseq:XP_011516891.1|refseq:XP_011516892.1|refseq:XP_011516893.1|refseq:XP_011516894.1|refseq:XP_011516895.1|ensembl:ENSG00000148180(gene)|ensembl:ENST00000373818(transcript)|go:"GO:0002102"(podosome)|go:"GO:0003779"(actin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006911"(phagocytosis, engulfment)|go:"GO:0007417"(central nervous system development)|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0014891"(striated muscle atrophy)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016528"(sarcoplasm)|go:"GO:0030031"(cell projection assembly)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0030042"(actin filament depolymerization)|go:"GO:0030478"(actin cap)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031648"(protein destabilization)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0035994"(response to muscle stretch)|go:"GO:0036313"(phosphatidylinositol 3-kinase catalytic subunit binding)|go:"GO:0042989"(sequestering of actin monomers)|go:"GO:0045010"(actin nucleation)|go:"GO:0045159"(myosin II binding)|go:"GO:0046597"(negative regulation of viral entry into host cell)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0051127"(positive regulation of actin nucleation)|go:"GO:0051693"(actin filament capping)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060271"(cilium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071801"(regulation of podosome assembly)|go:"GO:0072562"(blood microparticle)|go:"GO:0086003"(cardiac muscle cell contraction)|go:"GO:0090527"(actin filament reorganization)|go:"GO:0097017"(renal protein absorption)|go:"GO:0097284"(hepatocyte apoptotic process)|go:"GO:1902174"(positive regulation of keratinocyte apoptotic process)|go:"GO:1903903"(regulation of establishment of T cell polarity)|go:"GO:1903906"(regulation of plasma membrane raft polarization)|go:"GO:1903909"(regulation of receptor clustering)|go:"GO:1903923"(positive regulation of protein processing in phagocytic vesicle)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1990000"(amyloid fibril formation)|go:"GO:2001269"(positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway)|interpro:IPR007122(Gelsolin)|interpro:IPR007123(Gelsolin region)|interpro:IPR029006|interpro:IPR030004|mint:P06396|rcsb pdb:1C0F|rcsb pdb:1C0G|rcsb pdb:1D4X|rcsb pdb:1DEJ|rcsb pdb:1EQY|rcsb pdb:1ESV|rcsb pdb:1H1V|rcsb pdb:1KCQ|rcsb pdb:1MDU|rcsb pdb:1NLV|rcsb pdb:1NM1|rcsb pdb:1NMD|rcsb pdb:1P8X|rcsb pdb:1SOL|rcsb pdb:1T44|rcsb pdb:1YAG|rcsb pdb:1YVN|rcsb pdb:2FF3|rcsb pdb:2FF6|rcsb pdb:2FH1|rcsb pdb:2FH2|rcsb pdb:2FH3|rcsb pdb:2FH4|rcsb pdb:3A5L|rcsb pdb:3A5M|rcsb pdb:3A5N|rcsb pdb:3A5O|rcsb pdb:3CI5|rcsb pdb:3CIP|rcsb pdb:3CJB|rcsb pdb:3CJC|rcsb pdb:3FFK|rcsb pdb:3FFN|rcsb pdb:3TU5|rcsb pdb:4PKG|rcsb pdb:4PKH|rcsb pdb:4PKI|rcsb pdb:4S10|rcsb pdb:4Z94|rcsb pdb:5DD2|rcsb pdb:5FAE|rcsb pdb:5FAF|rcsb pdb:5H3M|rcsb pdb:5H3N|rcsb pdb:5O2Z|rcsb pdb:5UBO|rcsb pdb:5ZZ0|rcsb pdb:6H1F|rcsb pdb:6JCO|rcsb pdb:6JEG|rcsb pdb:6JEH|rcsb pdb:6LJE|rcsb pdb:6LJF|rcsb pdb:6Q9R|rcsb pdb:6Q9Z|rcsb pdb:6QBF|rcsb pdb:1P8Z|rcsb pdb:6QW3|reactome:R-HSA-264870|reactome:R-HSA-6798695|reactome:R-HSA-9662361|reactome:R-HSA-977225|refseq:NP_001244958.1|refseq:NP_001244959.1|refseq:NP_001121135.2|refseq:XP_005252000.1|refseq:XP_005252001.1|refseq:XP_005252002.1|refseq:XP_006717142.1|refseq:XP_016870135.1|refseq:XP_016870136.1|refseq:XP_016870137.1|dip:DIP-2196N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uACf9A+H6LAOAZSMGYqeDwUL1Mc9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15746 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-968482|intact:EBI-28987351|ensembl:ENSP00000353452|uniprotkb:O95796|uniprotkb:O95797|uniprotkb:O95798|uniprotkb:O95799|uniprotkb:Q14844|uniprotkb:Q16794|uniprotkb:Q5MY99|uniprotkb:Q5MYA0|intact:EBI-1758586|uniprotkb:B4DUE3|uniprotkb:D3DN97|uniprotkb:Q17S15|uniprotkb:Q6P2N0|uniprotkb:Q7Z4J0|uniprotkb:Q9C0L5|uniprotkb:Q9UBG5|uniprotkb:Q9UIT9|intact:EBI-1963605|uniprotkb:Q3ZCP9|uniprotkb:Q9UBY6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mylk_human(display_long)|uniprotkb:MYLK(gene name)|psi-mi:MYLK(display_short)|uniprotkb:MLCK(gene name synonym)|uniprotkb:Telokin(gene name synonym)|uniprotkb:Kinase-related protein(gene name synonym)|uniprotkb:MLCK1(gene name synonym)|uniprotkb:MYLK1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000065534(gene)|go:"GO:0006939"(smooth muscle contraction)|go:"GO:0014820"(tonic smooth muscle contraction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0032060"(bleb assembly)|go:"GO:0032154"(cleavage furrow)|go:"GO:0046872"(metal ion binding)|go:"GO:0051928"(positive regulation of calcium ion transport)|go:"GO:0060414"(aorta smooth muscle tissue morphogenesis)|go:"GO:0071476"(cellular hypotonic response)|go:"GO:0090303"(positive regulation of wound healing)|interpro:IPR000719(Protein kinase, core)|interpro:IPR003598(Immunoglobulin subtype 2)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR003961(Fibronectin, type III)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR013098(Immunoglobulin I-set)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR015725(Myosin Light Chain Kinase)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR036116|ensembl:ENST00000360304(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0004672"(protein kinase activity)|go:"GO:0004687"(myosin light chain kinase activity)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006468"(protein phosphorylation)|interpro:IPR036179|rcsb pdb:2K0F|rcsb pdb:2YR3|rcsb pdb:2CQV|rcsb pdb:5JQA|rcsb pdb:5JTH|rcsb pdb:6C6M|reactome:R-HSA-445355|reactome:R-HSA-5627123|refseq:NP_444253.3|refseq:NP_444254.3|refseq:NP_444255.3|refseq:NP_444256.3|refseq:NP_444259.1|refseq:NP_001308238.1|refseq:XP_011511162.1|ensembl:ENST00000346322|ensembl:ENSP00000320622|ensembl:ENSP00000354004|ensembl:ENST00000418370|ensembl:ENSP00000428967|ensembl:ENST00000578202|ensembl:ENSP00000463691|ensembl:ENST00000583087|ensembl:ENSP00000462118|ensembl:ENST00000360772|ensembl:ENSP00000353452|refseq:NP_444260.1|refseq:XP_016861958.1|refseq:XP_016861960.1|refseq:XP_016861961.1|refseq:XP_016861962.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Wm0QbKY5KOVPytbFu5NCcT0Z1ek9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O43707 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351526|uniprotkb:O76048|uniprotkb:D6PXK4|ensembl:ENSP00000252699|ensembl:ENSP00000489220|uniprotkb:A4K467 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actn4_human(display_long)|uniprotkb:ACTN4(gene name)|psi-mi:ACTN4(display_short)|uniprotkb:Non-muscle alpha-actinin 4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004915.2|ensembl:ENSG00000130402(gene)|ensembl:ENSG00000282844(gene)|ensembl:ENST00000252699(transcript)|ensembl:ENST00000634960(transcript)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0001882"(nucleoside binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005925"(focal adhesion)|go:"GO:0015031"(protein transport)|go:"GO:0016604"(nuclear body)|go:"GO:0016922"(nuclear receptor binding)|go:"GO:0030050"(vesicle transport along actin filament)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0031093"(platelet alpha granule lumen)|go:"GO:0031143"(pseudopodium)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0032417"("positive regulation of sodium:proton antiporter activity")|go:"GO:0032991"(protein-containing complex)|go:"GO:0033209"(tumor necrosis factor-mediated signaling pathway)|go:"GO:0035357"(peroxisome proliferator activated receptor signaling pathway)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042974"(retinoic acid receptor binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0048384"(retinoic acid receptor signaling pathway)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051015"(actin filament binding)|go:"GO:0051272"(positive regulation of cellular component movement)|go:"GO:0070062"(extracellular exosome)|go:"GO:1900025"(negative regulation of substrate adhesion-dependent cell spreading)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1903506"(regulation of nucleic acid-templated transcription)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR014837(EF-hand, Ca insensitive)|interpro:IPR018159|interpro:IPR018247|interpro:IPR036872|mint:O43707|rcsb pdb:1WLX|rcsb pdb:1YDI|rcsb pdb:2R0O|rcsb pdb:6O31|rcsb pdb:6OA6|reactome:R-HSA-114608|reactome:R-HSA-373753|dip:DIP-33179N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kTYezA2lEtL/AQPfCQ8BE79nzow9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15149 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-297903|intact:EBI-1103289|intact:EBI-1103265|intact:EBI-1055056|uniprotkb:Q15148|uniprotkb:Q16640|ensembl:ENSP00000323856|uniprotkb:Q6S376|intact:EBI-28976159|uniprotkb:Q6S380|intact:EBI-1103313|uniprotkb:Q6S377|uniprotkb:Q6S378|uniprotkb:Q6S379|intact:EBI-1103301|intact:EBI-1103253|uniprotkb:Q6S381|uniprotkb:Q6S382|uniprotkb:Q6S383|intact:EBI-2825763 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:plec_human(display_long)|uniprotkb:PLEC(gene name)|psi-mi:PLEC(display_short)|uniprotkb:Hemidesmosomal protein 1(gene name synonym)|uniprotkb:PLEC1(gene name synonym)|uniprotkb:Plectin-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0030018"(Z disc)|go:"GO:0030056"(hemidesmosome)|go:"GO:0030424"(axon)|go:"GO:0030425"(dendrite)|go:"GO:0030506"(ankyrin binding)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0031581"(hemidesmosome assembly)|go:"GO:0031668"(cellular response to extracellular stimulus)|go:"GO:0032094"(response to food)|go:"GO:0032287"(peripheral nervous system myelin maintenance)|go:"GO:0034332"(adherens junction organization)|go:"GO:0034613"(cellular protein localization)|go:"GO:0035264"(multicellular organism growth)|go:"GO:0042060"(wound healing)|go:"GO:0042383"(sarcolemma)|go:"GO:0043034"(costamere)|go:"GO:0043114"(regulation of vascular permeability)|go:"GO:0043209"(myelin sheath)|go:"GO:0043621"(protein self-association)|go:"GO:0043933"(protein-containing complex organization)|go:"GO:0045104"(intermediate filament cytoskeleton organization)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0022904"(respiratory electron transport chain)|go:"GO:0045214"(sarcomere organization)|go:"GO:0045296"(cadherin binding)|go:"GO:0045445"(myoblast differentiation)|go:"GO:0048471"(perinuclear region of cytoplasm)|ensembl:ENSG00000178209(gene)|ensembl:ENST00000322810(transcript)|go:"GO:0000902"(cell morphogenesis)|go:"GO:0002162"(dystroglycan binding)|go:"GO:0002522"(leukocyte migration involved in immune response)|go:"GO:0003334"(keratinocyte development)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005737"(cytoplasm)|go:"GO:0055013"(cardiac muscle cell development)|go:"GO:0061436"(establishment of skin barrier)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070584"(mitochondrion morphogenesis)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071464"(cellular response to hydrostatic pressure)|go:"GO:0071498"(cellular response to fluid shear stress)|go:"GO:0120193"(tight junction organization)|go:"GO:2000689"(actomyosin contractile ring assembly actin filament organization)|go:"GO:2000983"(regulation of ATP citrate synthase activity)|interpro:IPR001101(Plectin repeat)|interpro:IPR001452(Src homology-3)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR005326(Plectin/S10, N-terminal)|go:"GO:0048741"(skeletal muscle fiber development)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005925"(focal adhesion)|go:"GO:0006469"(negative regulation of protein kinase activity)|go:"GO:0006997"(nucleus organization)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0010467"(gene expression)|go:"GO:0010761"(fibroblast migration)|go:"GO:0010818"(T cell chemotaxis)|go:"GO:0014866"(skeletal myofibril assembly)|go:"GO:0016020"(membrane)|go:"GO:0016528"(sarcoplasm)|go:"GO:0016569"(obsolete covalent chromatin modification)|go:"GO:0019226"(transmission of nerve impulse)|interpro:IPR030269|interpro:IPR035915|interpro:IPR018159|interpro:IPR036388|interpro:IPR036872|interpro:IPR041573|interpro:IPR041615|interpro:IPR043197|mint:Q15149|rcsb pdb:1MB8|rcsb pdb:2N03|rcsb pdb:2ODU|rcsb pdb:2ODV|rcsb pdb:3F7P|rcsb pdb:3PDY|rcsb pdb:3PE0|rcsb pdb:4GDO|rcsb pdb:4Q58|rcsb pdb:4Q59|rcsb pdb:5J1F|rcsb pdb:5J1G|rcsb pdb:5J1H|rcsb pdb:5J1I|reactome:R-HSA-2022090|reactome:R-HSA-264870|reactome:R-HSA-446107|ensembl:ENST00000436759|ensembl:ENSP00000388180|ensembl:ENST00000527096|ensembl:ENSP00000434583|ensembl:ENSP00000323856|ensembl:ENST00000345136|ensembl:ENSP00000344848|ensembl:ENST00000354589|ensembl:ENSP00000346602|ensembl:ENST00000354958|ensembl:ENSP00000347044|ensembl:ENST00000356346|ensembl:ENSP00000348702|ensembl:ENST00000357649|ensembl:ENSP00000350277|ensembl:ENST00000398774|ensembl:ENSP00000381756|refseq:NP_000436.2|refseq:NP_958780.1|refseq:NP_958781.1|refseq:NP_958782.1|refseq:NP_958783.1|refseq:NP_958784.1|refseq:NP_958785.1|refseq:NP_958786.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:zbctDAOOCaJUx3WBdp85v7SI0sI9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P21333 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350432|uniprotkb:Q8NF52|intact:EBI-1103234|ensembl:ENSP00000358866|uniprotkb:Q5HY53|uniprotkb:Q5HY55|uniprotkb:E9KL45 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:flna_human(display_long)|uniprotkb:FLNA(gene name)|psi-mi:FLNA(display_short)|uniprotkb:FLN(gene name synonym)|uniprotkb:FLN1(gene name synonym)|uniprotkb:Alpha-filamin(gene name synonym)|uniprotkb:Filamin-1(gene name synonym)|uniprotkb:Endothelial actin-binding protein(gene name synonym)|uniprotkb:Actin-binding protein 280(gene name synonym)|uniprotkb:Non-muscle filamin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0007195"(adenylate cyclase-inhibiting dopamine receptor signaling pathway)|go:"GO:1902396"(protein localization to bicellular tight junction)|refseq:NP_001104026.1|refseq:NP_001447.2|ensembl:ENSG00000196924(gene)|ensembl:ENST00000369850(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001664"(G protein-coupled receptor binding)|go:"GO:0001837"(epithelial to mesenchymal transition)|go:"GO:0001974"(blood vessel remodeling)|go:"GO:0003007"(heart morphogenesis)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005829"(cytosol)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048680"(positive regulation of axon regeneration)|go:"GO:0050808"(synapse organization)|go:"GO:0050821"(protein stabilization)|go:"GO:0051015"(actin filament binding)|go:"GO:0051020"(GTPase binding)|go:"GO:0051220"(cytoplasmic sequestering of protein)|go:"GO:0051764"(actin crosslink formation)|go:"GO:0060271"(cilium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0071526"(semaphorin-plexin signaling pathway)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0090042"(tubulin deacetylation)|go:"GO:0090307"(mitotic spindle assembly)|go:"GO:0097368"(establishment of Sertoli cell barrier)|go:"GO:0097440"(apical dendrite)|go:"GO:0098794"(postsynapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1900026"(positive regulation of substrate adhesion-dependent cell spreading)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:0046332"(SMAD binding)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0015459"(potassium channel regulator activity)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016479"(negative regulation of transcription by RNA polymerase I)|go:"GO:0019900"(kinase binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0021943"(formation of radial glial scaffolds)|go:"GO:0021987"(cerebral cortex development)|go:"GO:0030018"(Z disc)|go:"GO:0030334"(regulation of cell migration)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031523"(Myb complex)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0031852"(mu-type opioid receptor binding)|go:"GO:0032233"(positive regulation of actin filament bundle assembly)|go:"GO:0032432"(actin filament bundle)|go:"GO:0034394"(protein localization to cell surface)|go:"GO:0034988"(Fc-gamma receptor I complex binding)|go:"GO:0042177"(negative regulation of protein catabolic process)|go:"GO:0042307"(positive regulation of protein import into nucleus)|go:"GO:0042789"(mRNA transcription by RNA polymerase II)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043113"(receptor clustering)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043198"(dendritic shaft)|go:"GO:0043204"(perikaryon)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0044295"(axonal growth cone)|go:"GO:0044319"(wound healing, spreading of cells)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0045022"(early endosome to late endosome transport)|go:"GO:0045184"(establishment of protein localization)|go:"GO:0045216"(cell-cell junction organization)|go:"GO:0045296"(cadherin binding)|reactome:R-HSA-114608|reactome:R-HSA-430116|reactome:R-HSA-446353|reactome:R-HSA-5627123|reactome:R-HSA-8983711|rcsb pdb:6EW1|go:"GO:1905031"(regulation of membrane repolarization during cardiac muscle cell action potential)|go:"GO:2000179"(positive regulation of neural precursor cell proliferation)|go:"GO:2001046"(positive regulation of integrin-mediated signaling pathway)|go:"GO:2001224"(positive regulation of neuron migration)|interpro:IPR001298(Filamin/ABP280 repeat)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR017868|interpro:IPR036872|interpro:IPR044801|mint:P21333|rcsb pdb:2AAV|rcsb pdb:2BP3|rcsb pdb:2BRQ|rcsb pdb:2J3S|rcsb pdb:2JF1|rcsb pdb:2K3T|rcsb pdb:2K7P|rcsb pdb:2K7Q|rcsb pdb:2MTP|rcsb pdb:2W0P|rcsb pdb:2WFN|rcsb pdb:3CNK|rcsb pdb:3HOC|rcsb pdb:3HOP|rcsb pdb:3HOR|rcsb pdb:3ISW|rcsb pdb:3RGH|rcsb pdb:4M9P|rcsb pdb:4P3W|rcsb pdb:5XR1|rcsb pdb:6D8C|go:"GO:1905000"(regulation of membrane repolarization during atrial cardiac muscle cell action potential)|dip:DIP-1136N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZxGK5OSMy8cNsyt7Ax2KXb8bn9M9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P14136 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-744302|uniprotkb:Q53H98|uniprotkb:Q5D055|uniprotkb:Q6ZQS3|uniprotkb:Q7Z5J6|uniprotkb:Q7Z5J7|uniprotkb:Q96KS4|uniprotkb:Q96P18|uniprotkb:Q9UFD0|uniprotkb:B2RD44|uniprotkb:D3DX59|intact:EBI-3909365|uniprotkb:E9PAX3|ensembl:ENSP00000466598|uniprotkb:A7REI1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gfap_human(display_long)|uniprotkb:GFAP(gene name)|psi-mi:GFAP(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001124491.1|refseq:NP_001229305.1|refseq:NP_002046.1|ensembl:ENSG00000131095(gene)|ensembl:ENST00000588735(transcript)|go:"GO:0005178"(integrin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005882"(intermediate filament)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0009611"(response to wounding)|go:"GO:0010467"(gene expression)|go:"GO:0010625"(positive regulation of Schwann cell proliferation)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0014002"(astrocyte development)|go:"GO:0019900"(kinase binding)|go:"GO:0030198"(extracellular matrix organization)|go:"GO:0031102"(neuron projection regeneration)|go:"GO:0042802"(identical protein binding)|go:"GO:0043254"(regulation of protein-containing complex assembly)|go:"GO:0044297"(cell body)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0051580"(regulation of neurotransmitter uptake)|go:"GO:0060020"(Bergmann glial cell differentiation)|go:"GO:0060291"(long-term synaptic potentiation)|go:"GO:0070779"(D-aspartate import across plasma membrane)|go:"GO:0097450"(astrocyte end-foot)|go:"GO:0098574"(cytoplasmic side of lysosomal membrane)|go:"GO:1904714"(regulation of chaperone-mediated autophagy)|interpro:IPR006821(Intermediate filament, DNA-binding region)|interpro:IPR018039|interpro:IPR027701|interpro:IPR039008|mint:P14136|rcsb pdb:6A9P|reactome:R-HSA-1251985|reactome:R-HSA-9613829 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Pz4JW0WjMjBYILTDSX9jUmMqWhg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13363 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46821 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-764611|uniprotkb:A2BDK5|ensembl:ENSP00000296755 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:map1b_human(display_long)|uniprotkb:MAP1B(gene name)|psi-mi:MAP1B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005900.2|dip:DIP-33474N|ensembl:ENSG00000131711(gene)|ensembl:ENST00000296755(transcript)|go:"GO:0001578"(microtubule bundle formation)|go:"GO:0001750"(photoreceptor outer segment)|go:"GO:0001764"(neuron migration)|go:"GO:0003779"(actin binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005543"(phospholipid binding)|go:"GO:0005829"(cytosol)|go:"GO:0005874"(microtubule)|go:"GO:0005875"(microtubule associated complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0007026"(negative regulation of microtubule depolymerization)|go:"GO:0007409"(axonogenesis)|go:"GO:0007416"(synapse assembly)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0008017"(microtubule binding)|go:"GO:0009612"(response to mechanical stimulus)|go:"GO:0009743"(response to carbohydrate)|go:"GO:0009987"(cellular process)|go:"GO:0010035"(response to inorganic substance)|go:"GO:0014012"(peripheral nervous system axon regeneration)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016358"(dendrite development)|go:"GO:0021700"(developmental maturation)|go:"GO:0030424"(axon)|go:"GO:0030425"(dendrite)|go:"GO:0030426"(growth cone)|go:"GO:0031114"(regulation of microtubule depolymerization)|go:"GO:0031116"(positive regulation of microtubule polymerization)|go:"GO:0032355"(response to estradiol)|go:"GO:0032387"(negative regulation of intracellular transport)|go:"GO:0033189"(response to vitamin A)|go:"GO:0036477"(somatodendritic compartment)|go:"GO:0042493"|go:"GO:0043025"(neuronal cell body)|go:"GO:0043196"(varicosity)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0017085"(response to insecticide)|go:"GO:0045202"(synapse)|go:"GO:0045666"(positive regulation of neuron differentiation)|go:"GO:0045773"(positive regulation of axon extension)|go:"GO:0047497"(mitochondrion transport along microtubule)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048675"(axon extension)|go:"GO:0051915"(induction of synaptic plasticity by chemical substance)|go:"GO:0061162"(establishment of monopolar cell polarity)|go:"GO:0071363"(cellular response to growth factor stimulus)|go:"GO:0071375"(cellular response to peptide hormone stimulus)|go:"GO:0097440"(apical dendrite)|go:"GO:0097441"(basal dendrite)|go:"GO:0097457"(hippocampal mossy fiber)|interpro:IPR000102(Neuraxin/MAP1B repeat)|go:"GO:0044877"(protein-containing complex binding)|interpro:IPR027321|mint:P46821|interpro:IPR026074 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uSRzrWaYU/dmkItUkCK4zex+/TM9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P08670 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353844|uniprotkb:Q15867|uniprotkb:Q15868|uniprotkb:Q15869|uniprotkb:Q548L2|uniprotkb:Q6LER9|uniprotkb:Q8N850|uniprotkb:Q96ML2|uniprotkb:Q9NTM3|uniprotkb:B0YJC2|intact:EBI-3442369|uniprotkb:D3DRU4|ensembl:ENSP00000224237|ensembl:ENSP00000446007 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:vime_human(display_long)|uniprotkb:VIM(gene name)|psi-mi:VIM(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003371.2|ensembl:ENSG00000026025(gene)|ensembl:ENST00000224237(transcript)|ensembl:ENST00000544301(transcript)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0005737"(cytoplasm)|go:"GO:0005777"(peroxisome)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005882"(intermediate filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0014002"(astrocyte development)|go:"GO:0016363"(nuclear matrix)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031252"(cell leading edge)|go:"GO:0032967"(positive regulation of collagen biosynthetic process)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0060020"(Bergmann glial cell differentiation)|go:"GO:0070307"(lens fiber cell development)|go:"GO:0060395"(SMAD protein signal transduction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0097110"(scaffold protein binding)|go:"GO:1990254"(keratin filament binding)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR006821(Intermediate filament, DNA-binding region)|interpro:IPR018039|interpro:IPR027699|interpro:IPR039008|mint:P08670|rcsb pdb:1GK4|rcsb pdb:1GK6|rcsb pdb:1GK7|rcsb pdb:3G1E|rcsb pdb:3KLT|rcsb pdb:3S4R|rcsb pdb:3SSU|rcsb pdb:3SWK|rcsb pdb:3TRT|rcsb pdb:3UF1|rcsb pdb:4MCY|rcsb pdb:4MCZ|rcsb pdb:4MD0|rcsb pdb:4MD5|rcsb pdb:4MDI|rcsb pdb:4MDJ|rcsb pdb:4YPC|rcsb pdb:4YV3|rcsb pdb:5WHF|rcsb pdb:6ATF|rcsb pdb:6ATI|rcsb pdb:6BIR|rcsb pdb:6YXK|reactome:R-HSA-264870|reactome:R-HSA-390522|reactome:R-HSA-6785807|reactome:R-HSA-9013422|reactome:R-HSA-9613829|reactome:R-HSA-9615710|reactome:R-HSA-9646399|refseq:XP_006717563.1|dip:DIP-32507N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GhAhVuXMNxi6P5J0CfNi5l9bjRk9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P63261 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351292|uniprotkb:P02571|uniprotkb:P14104|uniprotkb:P99022|uniprotkb:Q5U032|uniprotkb:Q96E67|uniprotkb:A8K7C2|ensembl:ENSP00000505060|ensembl:ENSP00000505193|ensembl:ENSP00000505235|ensembl:ENSP00000506126|ensembl:ENSP00000506201|ensembl:ENSP00000506253|ensembl:ENSP00000458162|ensembl:ENSP00000458435|ensembl:ENSP00000459119|ensembl:ENSP00000459124|ensembl:ENSP00000460464|ensembl:ENSP00000460660|ensembl:ENSP00000461672|ensembl:ENSP00000466346|ensembl:ENSP00000477968 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actg_human(display_long)|uniprotkb:ACTG1(gene name)|psi-mi:ACTG1(display_short)|uniprotkb:ACTG(gene name synonym)|uniprotkb:Gamma-actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001186883.1|refseq:NP_001605.1|ensembl:ENST00000570382(transcript)|ensembl:ENSG00000184009(gene)|ensembl:ENST00000571721(transcript)|ensembl:ENST00000573283(transcript)|ensembl:ENST00000575087(transcript)|ensembl:ENST00000575659(transcript)|ensembl:ENST00000575842(transcript)|ensembl:ENST00000575994(transcript)|ensembl:ENST00000576544(transcript)|ensembl:ENST00000615544(transcript)|ensembl:ENST00000679480(transcript)|ensembl:ENST00000679778(transcript)|ensembl:ENST00000680227(transcript)|ensembl:ENST00000680727(transcript)|ensembl:ENST00000681052(transcript)|ensembl:ENST00000681842(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001738"(morphogenesis of a polarized epithelium)|go:"GO:0001895"(retina homeostasis)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005522"(profilin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0030016"(myofibril)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0031941"(filamentous actin)|go:"GO:0035633"(maintenance of blood-brain barrier)|go:"GO:0042802"(identical protein binding)|go:"GO:0043296"(apical junction complex)|go:"GO:0044305"(calyx of Held)|go:"GO:0045214"(sarcomere organization)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0048488"(synaptic vesicle endocytosis)|go:"GO:0051492"(regulation of stress fiber assembly)|go:"GO:0051893"(regulation of focal adhesion assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0072562"(blood microparticle)|go:"GO:0090303"(positive regulation of wound healing)|go:"GO:0097433"(dense body)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0098973"(structural constituent of postsynaptic actin cytoskeleton)|go:"GO:0120192"(tight junction assembly)|go:"GO:0120220"(basal body patch)|go:"GO:0150111"(regulation of transepithelial transport)|go:"GO:1902396"(protein localization to bicellular tight junction)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:P63261|rcsb pdb:5JLH|rcsb pdb:6CXI|rcsb pdb:6CXJ|rcsb pdb:6G2T|rcsb pdb:6V62|rcsb pdb:6V63|rcsb pdb:6WK1|rcsb pdb:6WK2|reactome:R-HSA-1445148|reactome:R-HSA-190873|reactome:R-HSA-196025|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-3928665|reactome:R-HSA-418990|reactome:R-HSA-437239|reactome:R-HSA-4420097|reactome:R-HSA-445095|reactome:R-HSA-446353|reactome:R-HSA-5626467|reactome:R-HSA-5663213|reactome:R-HSA-5663220|reactome:R-HSA-5674135|reactome:R-HSA-6802946|reactome:R-HSA-6802948|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-8856828|reactome:R-HSA-9013418|reactome:R-HSA-9649948|reactome:R-HSA-9656223|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9664422 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B2OOsE06lTfo90H3g8tlmUJQ7cY9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KRP2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046505|ensembl:ENSP00000462098 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3krp2_human(display_long)|uniprotkb:PSMC5(gene name)|psi-mi:PSMC5(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR027417|interpro:IPR032501|ensembl:ENSG00000087191(gene)|ensembl:ENST00000584320(transcript)|go:"GO:0005524"(ATP binding)|interpro:IPR003959(AAA ATPase, core) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VwzAZi5k+eMkZ00BInigygpuQkA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H582 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2560435|uniprotkb:Q7LG67|uniprotkb:Q5TCC0|uniprotkb:Q6PI06|uniprotkb:Q9ULJ9|uniprotkb:A2RU71|uniprotkb:Q2TAM0|uniprotkb:Q6P446|uniprotkb:Q6BEP7|ensembl:ENSP00000337008|ensembl:ENSP00000359469 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn644_human(display_long)|uniprotkb:ZNF644(gene name)|psi-mi:ZNF644(display_short)|uniprotkb:KIAA1221(gene name synonym)|uniprotkb:ZEP2(gene name synonym)|uniprotkb:Zinc finger motif enhancer-binding protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_057704.2|refseq:NP_115562.3|refseq:NP_958357.1|refseq:XP_016857977.1|refseq:XP_016857978.1|refseq:XP_016857979.1|refseq:XP_016857980.1|refseq:XP_016857981.1|refseq:XP_016857982.1|refseq:XP_016857983.1|ensembl:ENSG00000122482(gene)|ensembl:ENST00000337393(transcript)|ensembl:ENST00000370440(transcript)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0005634"(nucleus)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|mint:Q9H582 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:16MjfkV6aoDArzVV5Qi0K2HI2lg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q08945 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353771|uniprotkb:Q5BJG8|ensembl:ENSP00000278412 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ssrp1_human(display_long)|uniprotkb:SSRP1(gene name)|psi-mi:SSRP1(display_short)|uniprotkb:FACT80(gene name synonym)|uniprotkb:Facilitates chromatin transcription complex subunit SSRP1(gene name synonym)|uniprotkb:Facilitates chromatin transcription complex 80 kDa subunit(gene name synonym)|uniprotkb:Chromatin-specific transcription elongation factor 80 kDa subunit(gene name synonym)|uniprotkb:Structure-specific recognition protein 1(gene name synonym)|uniprotkb:Recombination signal sequence recognition protein 1(gene name synonym)|uniprotkb:T160(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003137.1|ensembl:ENSG00000149136(gene)|ensembl:ENST00000278412(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0006260"(DNA replication)|go:"GO:0006281"(DNA repair)|go:"GO:0031491"(nucleosome binding)|go:"GO:0035101"(FACT complex)|go:"GO:0042393"(histone binding)|reactome:R-HSA-167243|reactome:R-HSA-167246|reactome:R-HSA-167287|reactome:R-HSA-167290|reactome:R-HSA-674695|reactome:R-HSA-6796648|reactome:R-HSA-6804756|reactome:R-HSA-75955|go:"GO:1902275"(regulation of chromatin organization)|interpro:IPR000969(Structure-specific recognition protein)|interpro:IPR009071(High mobility group box, HMG)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013719(Region of unknown function DUF1747, eukaryote)|interpro:IPR024954|interpro:IPR035417|interpro:IPR036910|interpro:IPR038167|mint:Q08945|rcsb pdb:4IFS|rcsb pdb:5UMR|rcsb pdb:5UMS|rcsb pdb:5VWE|rcsb pdb:6L1E|rcsb pdb:6L1R|rcsb pdb:6L34|rcsb pdb:6UPK|rcsb pdb:6UPL|reactome:R-HSA-112382|reactome:R-HSA-167152|reactome:R-HSA-167200|reactome:R-HSA-167238|dip:DIP-169N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:WmdGVZadHdcS6Nk9SI41xKm+OrU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5JUX0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1642527|uniprotkb:Q8N5D9|uniprotkb:B7Z8W2|uniprotkb:B2RUW3|ensembl:ENSP00000364054|ensembl:ENSP00000491179|ensembl:ENSP00000491624|ensembl:ENSP00000491751|ensembl:ENSP00000492344|ensembl:ENSP00000492381|ensembl:ENSP00000492795 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:spin3_human(display_long)|uniprotkb:SPIN3(gene name)|psi-mi:SPIN3(display_short)|uniprotkb:Spindlin-like protein 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001010862.2|refseq:XP_006724640.1|refseq:XP_006724641.1|refseq:XP_016884804.1|ensembl:ENSG00000204271(gene)|ensembl:ENST00000374919(transcript)|ensembl:ENST00000638257(transcript)|ensembl:ENST00000638289(transcript)|ensembl:ENST00000638386(transcript)|ensembl:ENST00000638712(transcript)|ensembl:ENST00000639007(transcript)|ensembl:ENST00000639605(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0007276"(gamete generation)|go:"GO:0035064"(methylated histone binding)|interpro:IPR003671(Spindlin/spermiogenesis-specific protein)|interpro:IPR029567|interpro:IPR042567|mint:Q5JUX0|rcsb pdb:5A1H intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Z4PHGiFUPGeFRxSjg6rzBFnXv7g9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q06587 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-752313|uniprotkb:Q5JP96|uniprotkb:Q5SQW2|uniprotkb:Q86V19|uniprotkb:A8JZZ0|ensembl:ENSP00000363787|ensembl:ENSP00000372699|ensembl:ENSP00000396271|ensembl:ENSP00000396439|ensembl:ENSP00000400572|ensembl:ENSP00000412190 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ring1_human(display_long)|uniprotkb:RING finger protein 1(gene name synonym)|uniprotkb:Polycomb complex protein RING1(gene name synonym)|uniprotkb:RING1(gene name)|psi-mi:RING1(display_short)|uniprotkb:RNF1(gene name synonym)|uniprotkb:Really interesting new gene 1 protein(gene name synonym)|uniprotkb:RING-type E3 ubiquitin transferase RING1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002922.2|dip:DIP-42043N|ensembl:ENSG00000204227(gene)|ensembl:ENSG00000206287(gene)|ensembl:ENSG00000226788(gene)|ensembl:ENSG00000228520(gene)|ensembl:ENSG00000231115(gene)|ensembl:ENSG00000235107(gene)|ensembl:ENST00000374656(transcript)|ensembl:ENST00000383212(transcript)|ensembl:ENST00000415941(transcript)|ensembl:ENST00000427374(transcript)|ensembl:ENST00000430233(transcript)|ensembl:ENST00000436128(transcript)|go:"GO:0000151"(ubiquitin ligase complex)|go:"GO:0001739"(sex chromatin)|go:"GO:0003682"(chromatin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0009952"(anterior/posterior pattern specification)|go:"GO:0016607"(nuclear speck)|go:"GO:0031519"(PcG protein complex)|go:"GO:0035102"(PRC1 complex)|go:"GO:0035518"(histone H2A monoubiquitination)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|go:"GO:0048593"(camera-type eye morphogenesis)|go:"GO:0061630"(ubiquitin protein ligase activity)|go:"GO:0097027"(ubiquitin-protein transferase activator activity)|interpro:IPR001841(Zinc finger, RING-type)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR017907|interpro:IPR032443|interpro:IPR042741|mint:Q06587|reactome:R-HSA-2559580|reactome:R-HSA-3108214|reactome:R-HSA-3899300|reactome:R-HSA-4551638|reactome:R-HSA-4570464|reactome:R-HSA-4655427|reactome:R-HSA-8939243|reactome:R-HSA-8943724|reactome:R-HSA-8953750|interpro:IPR043540 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:oAdj6hshWi4/CoFFW3ZwyO4LKOU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35998 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-359710|uniprotkb:B7Z5E2|uniprotkb:A4D0Q1|uniprotkb:Q3LIA5|uniprotkb:Q9UDI3|ensembl:ENSP00000292644|ensembl:ENSP00000391211|ensembl:ENSP00000502939|ensembl:ENSP00000503179|ensembl:ENSP00000504608 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:prs7_human(display_long)|uniprotkb:PSMC2(gene name)|psi-mi:PSMC2(display_short)|uniprotkb:MSS1(gene name synonym)|uniprotkb:Proteasome 26S subunit ATPase 2(gene name synonym)|uniprotkb:Protein MSS1(gene name synonym)|uniprotkb:26S proteasome AAA-ATPase subunit RPT1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001191382.1|refseq:NP_002794.1|interpro:IPR005937(26S proteasome subunit P45)|interpro:IPR027417|interpro:IPR035245|interpro:IPR041569|mint:P35998|rcsb pdb:5GJQ|rcsb pdb:5GJR|rcsb pdb:5L4G|rcsb pdb:5LN3|rcsb pdb:5M32|rcsb pdb:5T0C|rcsb pdb:5T0G|interpro:IPR003960(AAA ATPase, conserved site)|rcsb pdb:5T0H|rcsb pdb:5T0I|rcsb pdb:5T0J|rcsb pdb:5VFP|rcsb pdb:5VFQ|rcsb pdb:5VFR|rcsb pdb:5VFS|rcsb pdb:5VFT|rcsb pdb:5VFU|rcsb pdb:5VGZ|rcsb pdb:5VHF|rcsb pdb:5VHH|rcsb pdb:5VHI|rcsb pdb:5VHJ|rcsb pdb:5VHM|rcsb pdb:5VHN|rcsb pdb:5VHO|rcsb pdb:5VHP|ensembl:ENSG00000161057(gene)|ensembl:ENST00000292644(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0006511"(ubiquitin-dependent protein catabolic process)|ensembl:ENST00000435765(transcript)|ensembl:ENST00000678493(transcript)|go:"GO:0008540"(proteasome regulatory particle, base subcomplex)|go:"GO:0016020"(membrane)|ensembl:ENST00000679205(transcript)|ensembl:ENST00000679341(transcript)|go:"GO:0017025"(TBP-class protein binding)|go:"GO:0022624"(proteasome accessory complex)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0036402"(proteasome-activating activity)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0000502"(proteasome complex)|go:"GO:0000932"(P-body)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0043197"(dendritic spine)|go:"GO:0045899"(positive regulation of RNA polymerase II transcription preinitiation complex assembly)|go:"GO:1901800"(positive regulation of proteasomal protein catabolic process)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR003959(AAA ATPase, core)|rcsb pdb:5VHR|rcsb pdb:5VHS|rcsb pdb:6MSB|rcsb pdb:6MSD|rcsb pdb:6MSE|rcsb pdb:6MSG|rcsb pdb:6MSH|rcsb pdb:6MSJ|rcsb pdb:6MSK|rcsb pdb:6WJD|rcsb pdb:6WJN|reactome:R-HSA-1169091|reactome:R-HSA-1234176|reactome:R-HSA-1236974|reactome:R-HSA-1236978|reactome:R-HSA-174084|reactome:R-HSA-174113|reactome:R-HSA-174154|reactome:R-HSA-174178|reactome:R-HSA-174184|reactome:R-HSA-180534|reactome:R-HSA-180585|rcsb pdb:5VHQ|reactome:R-HSA-5610783|reactome:R-HSA-5610785|reactome:R-HSA-5632684|reactome:R-HSA-5658442|reactome:R-HSA-5668541|reactome:R-HSA-5676590|reactome:R-HSA-5678895|reactome:R-HSA-5687128|reactome:R-HSA-5689603|reactome:R-HSA-5689880|reactome:R-HSA-6798695|reactome:R-HSA-68827|reactome:R-HSA-68949|reactome:R-HSA-69017|reactome:R-HSA-69481|reactome:R-HSA-69601|reactome:R-HSA-75815|reactome:R-HSA-8852276|reactome:R-HSA-8854050|reactome:R-HSA-8932339|reactome:R-HSA-8939236|reactome:R-HSA-8939902|reactome:R-HSA-8941858|reactome:R-HSA-8948751|reactome:R-HSA-8951664|reactome:R-HSA-9010553|reactome:R-HSA-9020702|reactome:R-HSA-9604323|reactome:R-HSA-983168|reactome:R-HSA-5610780|reactome:R-HSA-187577|reactome:R-HSA-195253|reactome:R-HSA-202424|reactome:R-HSA-211733|reactome:R-HSA-2467813|reactome:R-HSA-2871837|reactome:R-HSA-349425|reactome:R-HSA-350562|reactome:R-HSA-382556|reactome:R-HSA-450408|reactome:R-HSA-4608870|reactome:R-HSA-4641257|reactome:R-HSA-4641258|reactome:R-HSA-5358346|reactome:R-HSA-5362768|reactome:R-HSA-5607761|reactome:R-HSA-5607764|dip:DIP-27554N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ahQfjPKywP5DWNq3FB5XCjuqkJ09606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y5V3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-716006|uniprotkb:Q5VSH6|uniprotkb:Q8IZ84|uniprotkb:Q8WY92|uniprotkb:Q9H352|uniprotkb:Q9HBT4|uniprotkb:Q9UF36|ensembl:ENSP00000325333|ensembl:ENSP00000364874|ensembl:ENSP00000364927 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:magd1_human(display_long)|uniprotkb:MAGE-D1 antigen(gene name synonym)|uniprotkb:Neurotrophin receptor-interacting MAGE homolog(gene name synonym)|uniprotkb:MAGE tumor antigen CCF(gene name synonym)|uniprotkb:MAGED1(gene name)|psi-mi:MAGED1(display_short)|uniprotkb:NRAGE(gene name synonym)|uniprotkb:PRO2292(orf name)|uniprotkb:PP2250(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001005332.1|refseq:NP_001005333.1|refseq:NP_008917.3|ensembl:ENSP00000325333|ensembl:ENST00000375695|ensembl:ENSP00000364847|ensembl:ENSP00000364874|ensembl:ENSP00000364927|refseq:XP_011529137.1|refseq:XP_016885467.1|refseq:XP_016885468.1|refseq:XP_016885469.1|ensembl:ENSG00000179222(gene)|ensembl:ENST00000326587(transcript)|ensembl:ENST00000375722(transcript)|ensembl:ENST00000375772(transcript)|go:"GO:0000785"(chromatin)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0042802"(identical protein binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050680"(negative regulation of epithelial cell proliferation)|go:"GO:0090190"(positive regulation of branching involved in ureteric bud morphogenesis)|go:"GO:1900181"(negative regulation of protein localization to nucleus)|go:"GO:2001235"(positive regulation of apoptotic signaling pathway)|interpro:IPR002190(MAGE protein)|interpro:IPR030083|interpro:IPR037445|interpro:IPR041898|interpro:IPR041899|mint:Q9Y5V3|reactome:R-HSA-193648|reactome:R-HSA-418889 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:UTg0r4zGMXfTZqBN4SFmgu6IukI9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0QXF8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046497|ensembl:ENSP00000469138 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0qxf8_human(display_long)|uniprotkb:WIZ(gene name)|psi-mi:WIZ(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000011451(gene)|ensembl:ENST00000596159(transcript)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XCLoTizlmkvCL+9yelnPfCDcaHU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q02413 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1045757|intact:EBI-28968615|ensembl:ENSP00000257192|uniprotkb:B7Z845 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dsg1_human(display_long)|uniprotkb:CDHF4(gene name synonym)|uniprotkb:Desmosomal glycoprotein 1(gene name synonym)|uniprotkb:Pemphigus foliaceus antigen(gene name synonym)|uniprotkb:DSG1(gene name)|psi-mi:DSG1(display_short)|uniprotkb:Cadherin family member 4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000257192|refseq:NP_001933.2|ensembl:ENSG00000134760(gene)|ensembl:ENST00000257192(transcript)|go:"GO:0001533"(cornified envelope)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0007043"(cell-cell junction assembly)|go:"GO:0007156"(homophilic cell adhesion via plasma membrane adhesion molecules)|go:"GO:0009898"(cytoplasmic side of plasma membrane)|go:"GO:0015643"(toxic substance binding)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016339"(calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules)|go:"GO:0030057"(desmosome)|go:"GO:0045295"(gamma-catenin binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0098609"(cell-cell adhesion)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000233(Cadherin cytoplasmic region)|interpro:IPR002126(Cadherin)|interpro:IPR009122(Desmosomal cadherin)|interpro:IPR009123(Desmoglein)|interpro:IPR015919(Cadherin-like)|interpro:IPR020894|interpro:IPR027397|mint:Q02413|reactome:R-HSA-351906|reactome:R-HSA-6798695|reactome:R-HSA-6805567|reactome:R-HSA-6809371|reactome:R-HSA-9696264|reactome:R-HSA-9696270 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:CiRFIJ9IWOol9bQpLJPxH8JArtE9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8N668 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1550112|uniprotkb:Q96GS0|uniprotkb:B4DFQ4|ensembl:ENSP00000308236 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:comd1_human(display_long)|uniprotkb:COMMD1(gene name)|psi-mi:COMMD1(display_short)|uniprotkb:C2orf5(gene name synonym)|uniprotkb:MURR1(gene name synonym)|uniprotkb:Protein Murr1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_689729.1|ensembl:ENSG00000173163(gene)|ensembl:ENST00000311832(transcript)|go:"GO:0005507"(copper ion binding)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005547"(phosphatidylinositol-3,4,5-trisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005829"(cytosol)|go:"GO:0006289"(nucleotide-excision repair)|go:"GO:0006893"(Golgi to plasma membrane transport)|go:"GO:0010008"(endosome membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019871"(sodium channel inhibitor activity)|go:"GO:0031398"(positive regulation of protein ubiquitination)|go:"GO:0031462"(Cul2-RING ubiquitin ligase complex)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0032434"(regulation of proteasomal ubiquitin-dependent protein catabolic process)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043325"(phosphatidylinositol-3,4-bisphosphate binding)|go:"GO:0048227"(plasma membrane to endosome transport)|go:"GO:0055037"(recycling endosome)|go:"GO:0055070"(copper ion homeostasis)|go:"GO:0070300"(phosphatidic acid binding)|go:"GO:0080025"(phosphatidylinositol-3,5-bisphosphate binding)|go:"GO:1902306"(negative regulation of sodium ion transmembrane transport)|go:"GO:2000009"(negative regulation of protein localization to cell surface)|interpro:IPR017920|interpro:IPR033776|interpro:IPR037351|mint:Q8N668|rcsb pdb:2H2M|reactome:R-HSA-8951664 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:b4sVuz5jwndjw+8ejRFqOcLRk1I9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8IWX8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2555370|uniprotkb:O00302|uniprotkb:Q99492|uniprotkb:Q4G0Y5|uniprotkb:Q8WU30|ensembl:ENSP00000439856 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cherp_human(display_long)|uniprotkb:DAN26(gene name synonym)|uniprotkb:SCAF6(gene name synonym)|uniprotkb:SR-related CTD-associated factor 6(gene name synonym)|uniprotkb:ERPROT 213-21(gene name synonym)|uniprotkb:CHERP(gene name)|psi-mi:CHERP(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006378.3|ensembl:ENSG00000085872(gene)|ensembl:ENST00000546361(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0006396"(RNA processing)|go:"GO:0006874"(cellular calcium ion homeostasis)|go:"GO:0007399"(nervous system development)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016020"(membrane)|go:"GO:0033017"(sarcoplasmic reticulum membrane)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051209"(release of sequestered calcium ion into cytosol)|go:"GO:0070886"(positive regulation of calcineurin-NFAT signaling cascade)|interpro:IPR000061(SWAP/Surp)|interpro:IPR000467(D111/G-patch)|interpro:IPR006569(Regulation of nuclear pre-mRNA protein)|interpro:IPR008942(ENTH/VHS)|interpro:IPR035967|interpro:IPR039037|reactome:R-HSA-72163 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Snifq3RgcsxZ8r9MCExHeb242Ss9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B7Z5C0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043628 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b7z5c0_human(display_long) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0006457"(protein folding)|go:"GO:0016020"(membrane)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0051082"(unfolded protein binding)|refseq:NP_001300968.1|interpro:IPR002939(Chaperone DnaJ, C-terminal)|interpro:IPR044713|interpro:IPR008971(HSP40/DnaJ peptide-binding)|interpro:IPR001305(Heat shock protein DnaJ, cysteine-rich region)|interpro:IPR036410 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:gjYhjF33Wii155TgzQ7dePPR8RU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8IX12 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356265|ensembl:ENSP00000265872|uniprotkb:A0JLT7|uniprotkb:A1L4P7|uniprotkb:A8K9D4|uniprotkb:B4DNP8|uniprotkb:B4DRK8|uniprotkb:Q5EBM3|uniprotkb:Q32NE3|uniprotkb:Q5VUP6|uniprotkb:Q6PIZ0|uniprotkb:Q6X935|uniprotkb:Q9H8N4|uniprotkb:Q9NVA7|uniprotkb:Q9NVQ0|uniprotkb:Q9NWM6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ccar1_human(display_long)|uniprotkb:CCAR1(gene name)|psi-mi:CCAR1(display_short)|uniprotkb:CARP1(gene name synonym)|uniprotkb:DIS(gene name synonym)|uniprotkb:Cell cycle and apoptosis regulatory protein 1(gene name synonym)|uniprotkb:Death inducer with SAP domain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000060339(gene)|ensembl:ENST00000265872(transcript)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005641"(nuclear envelope lumen)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0006915"(apoptotic process)|go:"GO:0007049"(cell cycle)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0048471"(perinuclear region of cytoplasm)|interpro:IPR003034(DNA-binding SAP)|interpro:IPR011992(EF-Hand type)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR025223|interpro:IPR025224|interpro:IPR025954|interpro:IPR036361|mint:Q8IX12|reactome:R-HSA-72163|refseq:NP_060707.2|refseq:NP_001269888.1|refseq:NP_001269889.1|dip:DIP-27607N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YnZve7StC4kAO8raUbp8T02jpe09606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62699 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11721624|uniprotkb:D6W568|uniprotkb:Q65Z97|uniprotkb:Q8R174|uniprotkb:Q9D6M1|uniprotkb:Q9UMX7|uniprotkb:Q9Y3C9|ensembl:ENSP00000261353|ensembl:ENSP00000368834|ensembl:ENSP00000368835|ensembl:ENSP00000383974|ensembl:ENSP00000385278 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ypel5_human(display_long)|uniprotkb:YPEL5(gene name)|psi-mi:YPEL5(display_short)|uniprotkb:CGI-127(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001120871.1|refseq:NP_001120872.1|refseq:NP_001120873.1|refseq:NP_057145.1|ensembl:ENSG00000119801(gene)|ensembl:ENST00000261353(transcript)|ensembl:ENST00000379519(transcript)|ensembl:ENST00000379520(transcript)|ensembl:ENST00000402003(transcript)|ensembl:ENST00000402708(transcript)|go:"GO:0000151"(ubiquitin ligase complex)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0008283"(cell population proliferation)|go:"GO:0030496"(midbody)|go:"GO:0046872"(metal ion binding)|go:"GO:0097431"(mitotic spindle pole)|go:"GO:1904724"(tertiary granule lumen)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR004910(Yippee-like protein)|interpro:IPR034751|interpro:IPR039058|mint:P62699|reactome:R-HSA-6798695|refseq:XP_016859807.1|refseq:XP_016859808.1|refseq:XP_016859809.1|refseq:XP_016859810.1|refseq:XP_016859811.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZpDZwTkWSDPONRLnApZ8fKl/NHk9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H7D7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1046864|uniprotkb:A0MNN3|uniprotkb:Q4G100|uniprotkb:Q59EC4|uniprotkb:Q5GLZ9|uniprotkb:Q86UY4|uniprotkb:Q9H3C2|ensembl:ENSP00000504428|intact:EBI-1642504 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:wdr26_human(display_long)|uniprotkb:CUL4- and DDB1-associated WDR protein 2(gene name synonym)|uniprotkb:Myocardial ischemic preconditioning up-regulated protein 2(gene name synonym)|uniprotkb:WDR26(gene name)|psi-mi:WDR26(display_short)|uniprotkb:CDW2(gene name synonym)|uniprotkb:MIP2(gene name synonym)|uniprotkb:PRO0852(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|interpro:IPR001680(WD40 repeat)|interpro:IPR006594(LisH dimerisation motif)|interpro:IPR006595(CTLH, C-terminal to LisH motif)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR036322|mint:Q9H7D7|ensembl:ENSG00000162923(gene)|ensembl:ENST00000678917(transcript)|go:"GO:0000151"(ubiquitin ligase complex)|go:"GO:0005634"(nucleus)|refseq:NP_001108585.2|refseq:NP_079436.4 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HRA6f68aldUqB1rVa7uM9srSyR49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9P270 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-3959887|uniprotkb:A8K4P1|uniprotkb:Q8N5R3|ensembl:ENSP00000264313 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:slai2_human(display_long)|uniprotkb:SLAIN2(gene name)|psi-mi:SLAIN2(display_short)|uniprotkb:KIAA1458(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_065897.1|ensembl:ENSG00000109171(gene)|ensembl:ENST00000264313(transcript)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0007020"(microtubule nucleation)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0031116"(positive regulation of microtubule polymerization)|go:"GO:0031122"(cytoplasmic microtubule organization)|interpro:IPR026179|mint:Q9P270|rcsb pdb:3RDV intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:r8OlU6BASEpehSYkbA9b3F3q5go9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y3B4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1046261|ensembl:ENSP00000233468|uniprotkb:Q53TM1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sf3b6_human(display_long)|uniprotkb:SF3B6(gene name)|psi-mi:SF3B6(display_short)|uniprotkb:Pre-mRNA branch site protein p14(gene name synonym)|uniprotkb:SAP14(gene name synonym)|uniprotkb:SF3B14(gene name synonym)|uniprotkb:SF3B14A(gene name synonym)|uniprotkb:SF3b 14 kDa subunit(gene name synonym)|uniprotkb:Spliceosome-associated protein, 14-kDa(gene name synonym)|uniprotkb:Splicing factor 3b, subunit 6, 14kDa(gene name synonym)|uniprotkb:CGI-110(orf name)|uniprotkb:HSPC175(orf name)|uniprotkb:HT006(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000233468(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0001825"(blastocyst formation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|ensembl:ENSG00000115128(gene)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005684"(U2-type spliceosomal complex)|go:"GO:0005686"(U2 snRNP)|go:"GO:0005689"(U12-type spliceosomal complex)|go:"GO:0071011"(precatalytic spliceosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034150|interpro:IPR035979|mint:Q9Y3B4|rcsb pdb:2F9D|rcsb pdb:2F9J|rcsb pdb:2FHO|rcsb pdb:3LQV|rcsb pdb:5Z56|rcsb pdb:5Z57|rcsb pdb:5Z58|rcsb pdb:6AH0|rcsb pdb:6AHD|rcsb pdb:6FF4|rcsb pdb:6FF7|rcsb pdb:6Y53|rcsb pdb:6Y5Q|rcsb pdb:7ABG|rcsb pdb:7ABH|rcsb pdb:7ABI|rcsb pdb:7DVQ|reactome:R-HSA-72163|reactome:R-HSA-72165|refseq:NP_057131.1|dip:DIP-44132N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7mhaXkmVqjfJGPdX1UDM+kN4vNI9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O94776 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1783035|uniprotkb:Q68DB1|uniprotkb:Q9UQB5|ensembl:ENSP00000278823 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mta2_human(display_long)|uniprotkb:MTA2(gene name)|psi-mi:MTA2(display_short)|uniprotkb:MTA1L1(gene name synonym)|uniprotkb:PID(gene name synonym)|uniprotkb:Metastasis-associated 1-like 1(gene name synonym)|uniprotkb:p53 target protein in deacetylase complex(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004730.2|refseq:NP_001317221.1|dip:DIP-46519N|ensembl:ENSG00000149480(gene)|ensembl:ENST00000278823(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0003682"(chromatin binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0004407"(histone deacetylase activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0006306"(DNA methylation)|go:"GO:0006333"(chromatin assembly or disassembly)|go:"GO:0008270"(zinc ion binding)|go:"GO:0010762"(regulation of fibroblast migration)|go:"GO:0016020"(membrane)|go:"GO:0016575"(histone deacetylation)|go:"GO:0016581"(NuRD complex)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043044"|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|interpro:IPR000679(Zinc finger, GATA-type)|interpro:IPR000949(ELM2)|interpro:IPR001005(SANT, DNA-binding)|interpro:IPR001025(Bromo adjacent region)|interpro:IPR009057(Homeodomain-like)|interpro:IPR017884|interpro:IPR035170|interpro:IPR037964|interpro:IPR040138|interpro:IPR043151|mint:O94776|reactome:R-HSA-3214815|reactome:R-HSA-427389|reactome:R-HSA-6804758|reactome:R-HSA-73762|reactome:R-HSA-8943724|reactome:R-HSA-9679191 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:D4wOsdMJYhY/ltvcnnuMHqNrFkc9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06312 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2513754|ensembl:ENSP00000374778|uniprotkb:P83593|uniprotkb:P01625|uniprotkb:P06313|uniprotkb:P06314 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:kv401_human(display_long)|uniprotkb:IGKV4-1(gene name)|psi-mi:IGKV4-1(display_short)|uniprotkb:Ig kappa chain V-IV region B17(gene name synonym)|uniprotkb:Ig kappa chain V-IV region JI(gene name synonym)|uniprotkb:Ig kappa chain V-IV region Len(gene name synonym)|uniprotkb:Ig kappa chain V-IV region STH(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000211598(gene)|ensembl:ENST00000390243(transcript)|go:"GO:0002250"(adaptive immune response)|go:"GO:0003823"(antigen binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005886"(plasma membrane)|go:"GO:0006955"(immune response)|go:"GO:0019814"(immunoglobulin complex)|go:"GO:0072562"(blood microparticle)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013106(Immunoglobulin V-set)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|rcsb pdb:1DH6|rcsb pdb:1EEQ|rcsb pdb:1EEU|rcsb pdb:1EFQ|rcsb pdb:1EK3|rcsb pdb:1LVE|rcsb pdb:1QAC|rcsb pdb:2LVE|rcsb pdb:3LVE|rcsb pdb:4LVE|rcsb pdb:5LVE|reactome:R-HSA-166663|reactome:R-HSA-173623|reactome:R-HSA-198933|reactome:R-HSA-202733|reactome:R-HSA-2029481|reactome:R-HSA-2029485|reactome:R-HSA-2168880|reactome:R-HSA-2454202|reactome:R-HSA-2730905|reactome:R-HSA-2871796|reactome:R-HSA-2871809|reactome:R-HSA-2871837|reactome:R-HSA-5690714|reactome:R-HSA-9664323|reactome:R-HSA-9664422|reactome:R-HSA-977606|reactome:R-HSA-983695|reactome:R-HSA-2029482 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7c2aoJLRIQGxkxfhA+EBvIwS06g9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EQY4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11058429|ensembl:ENSP00000385241 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7eqy4_human(display_long)|uniprotkb:MTA3(gene name)|psi-mi:MTA3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000057935(gene)|ensembl:ENST00000406911(transcript)|go:"GO:0003682"(chromatin binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0008270"(zinc ion binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043565"(sequence-specific DNA binding)|interpro:IPR000679(Zinc finger, GATA-type)|interpro:IPR000949(ELM2)|interpro:IPR001005(SANT, DNA-binding)|interpro:IPR001025(Bromo adjacent region)|interpro:IPR009057(Homeodomain-like)|interpro:IPR017884|interpro:IPR017930|interpro:IPR035170|interpro:IPR040138|interpro:IPR043151 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:DBYSFo2L72Zj8Pz0t13dDc6fG3o9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9JU34 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046488|ensembl:ENSP00000419511 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9ju34_human(display_long)|uniprotkb:RREB1(gene name)|psi-mi:RREB1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000124782(gene)|ensembl:ENST00000483150(transcript)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:BtfDuaxodjVYZ/deDO2g0NAgJ+A9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96II8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-8795942|uniprotkb:B4E0T7|intact:EBI-10963906|uniprotkb:Q9NT52|uniprotkb:Q96FP9|ensembl:ENSP00000393579 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lrch3_human(display_long)|uniprotkb:LRCH3(gene name)|psi-mi:LRCH3(display_short)|uniprotkb:Leucine-rich repeat and calponin homology domain-containing protein 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_005269419.1|refseq:NP_116162.1|refseq:XP_006713854.1|ensembl:ENSG00000186001(gene)|ensembl:ENST00000425562(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0032185"(septin cytoskeleton organization)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR003591(Leucine-rich repeat, typical subtype)|interpro:IPR032675|interpro:IPR036872 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:hb9NKXgACuzQk1py0w1k4DcE0h09606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96S59 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-636085|uniprotkb:A0PJA2|uniprotkb:O94764|uniprotkb:Q6P3T7|uniprotkb:Q7LBR2|uniprotkb:Q7Z7F9|ensembl:ENSP00000011619|uniprotkb:B2R8E1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ranb9_human(display_long)|uniprotkb:RanBP7(gene name synonym)|uniprotkb:Ran-binding protein M(gene name synonym)|uniprotkb:BPM90(gene name synonym)|uniprotkb:BPM-L(gene name synonym)|uniprotkb:RANBP9(gene name)|psi-mi:RANBP9(display_short)|uniprotkb:RANBPM(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005484.2|ensembl:ENSG00000010017(gene)|ensembl:ENST00000011619(transcript)|go:"GO:0000151"(ubiquitin ligase complex)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005875"(microtubule associated complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0007010"(cytoskeleton organization)|go:"GO:0007020"(microtubule nucleation)|go:"GO:0007166"(cell surface receptor signaling pathway)|go:"GO:0016604"(nuclear body)|go:"GO:0019899"(enzyme binding)|go:"GO:0031267"(small GTPase binding)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070373"(negative regulation of ERK1 and ERK2 cascade)|interpro:IPR001870("B302 (SPRY)-like")|interpro:IPR003877(SPla/RYanodine receptor SPRY)|interpro:IPR006594(LisH dimerisation motif)|interpro:IPR006595(CTLH, C-terminal to LisH motif)|interpro:IPR013144(CT11-RanBPM)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR024964|interpro:IPR035782|interpro:IPR043136|mint:Q96S59|rcsb pdb:5JI7|rcsb pdb:5JI9|rcsb pdb:5JIU|rcsb pdb:7NSC|reactome:R-HSA-373760|reactome:R-HSA-5673001|go:"GO:1902993"(positive regulation of amyloid precursor protein catabolic process)|reactome:R-HSA-8851805|refseq:XP_006715008.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7jybZidQAgnkobKmGJhZ9xsEeH09606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9HCK1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11339924|uniprotkb:Q6ZNP7|uniprotkb:Q6ZSN8|ensembl:ENSP00000363545|ensembl:ENSP00000490610|ensembl:ENSP00000497308|ensembl:ENSP00000498089 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zdbf2_human(display_long)|uniprotkb:ZDBF2(gene name)|psi-mi:ZDBF2(display_short)|uniprotkb:KIAA1571(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_065974.1|refseq:XP_005246768.1|refseq:XP_005246769.1|refseq:XP_005246770.1|refseq:XP_006712719.1|refseq:XP_011509834.1|refseq:XP_011509835.1|refseq:XP_011509836.1|refseq:XP_011509837.1|ensembl:ENSP00000363545|ensembl:ENSP00000490610|ensembl:ENSP00000497308|ensembl:ENSP00000498089|ensembl:ENSG00000204186(gene)|ensembl:ENSG00000283649(gene)|ensembl:ENST00000374423(transcript)|ensembl:ENST00000636761(transcript)|ensembl:ENST00000649650(transcript)|ensembl:ENST00000649768(transcript)|go:"GO:0003676"(nucleic acid binding)|go:"GO:0008270"(zinc ion binding)|interpro:IPR006572(Zinc finger, DBF-type)|interpro:IPR038545|interpro:IPR038890|mint:Q9HCK1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ShO2N3gLMpaq/+fKBkxAK083g5w9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P55795 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352823|ensembl:ENSP00000361927|uniprotkb:Q9HHA7|uniprotkb:A1L400 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hnrh2_human(display_long)|uniprotkb:HNRNPH2(gene name)|psi-mi:HNRNPH2(display_short)|uniprotkb:FTP3(gene name synonym)|uniprotkb:HNRPH2(gene name synonym)|uniprotkb:Heterogeneous nuclear ribonucleoprotein H'(gene name synonym)|uniprotkb:FTP-3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000126945(gene)|ensembl:ENST00000316594(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0043484"(regulation of RNA splicing)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR012996(Zinc finger, CHHC-type)|interpro:IPR035979|mint:P55795|rcsb pdb:1WEZ|rcsb pdb:1WG5|rcsb pdb:6DG1|reactome:R-HSA-72163|reactome:R-HSA-72203|interpro:IPR000504(RNA recognition motif, RNP-1)|refseq:NP_001027565.1|refseq:NP_062543.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:811j5syFsbk/QSaZv/ag9QsFUEQ9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y230 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352939|ensembl:ENSP00000473172|uniprotkb:Q6FIB9|uniprotkb:Q6PK27|uniprotkb:Q9Y361|uniprotkb:B3KQ59|uniprotkb:E7ETE5|intact:EBI-1058527 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ruvb2_human(display_long)|uniprotkb:RUVBL2(gene name)|psi-mi:RUVBL2(display_short)|uniprotkb:TIP48(gene name synonym)|uniprotkb:TIP49B(gene name synonym)|uniprotkb:CGI-46(orf name)|uniprotkb:48 kDa TATA box-binding protein-interacting protein(gene name synonym)|uniprotkb:TIP49b(gene name synonym)|uniprotkb:Repressing pontin 52(gene name synonym)|uniprotkb:51 kDa erythrocyte cytosolic protein(gene name synonym)|uniprotkb:INO80J(gene name synonym)|uniprotkb:TIP60-associated protein 54-beta(gene name synonym)|uniprotkb:INO80 complex subunit J(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1904874"(positive regulation of telomerase RNA localization to Cajal body)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR010339(TIP49, C-terminal)|interpro:IPR027238|interpro:IPR027417|interpro:IPR037942|interpro:IPR041048|interpro:IPR042487|mint:Q9Y230|rcsb pdb:2CQA|rcsb pdb:2XSZ|rcsb pdb:3UK6|rcsb pdb:5OAF|rcsb pdb:6FO1|rcsb pdb:6H7X|rcsb pdb:6HTS|rcsb pdb:6IGM|rcsb pdb:6K0R|rcsb pdb:6QI8|rcsb pdb:6QI9|rcsb pdb:7AHO|reactome:R-HSA-171319|go:"GO:0140585"(promoter-enhancer loop anchoring activity)|reactome:R-HSA-3214847|ensembl:ENSG00000183207(gene)|ensembl:ENST00000595090(transcript)|go:"GO:0000492"(box C/D snoRNP assembly)|go:"GO:0000791"(euchromatin)|go:"GO:0000812"(Swr1 complex)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000979"(RNA polymerase II core promoter sequence-specific DNA binding)|go:"GO:0001094"(TFIID-class transcription factor complex binding)|go:"GO:0003678"(DNA helicase activity)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0006281"(DNA repair)|go:"GO:0006310"(DNA recombination)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006457"(protein folding)|go:"GO:0008013"(beta-catenin binding)|go:"GO:0016020"(membrane)|go:"GO:0016363"(nuclear matrix)|go:"GO:0017025"(TBP-class protein binding)|go:"GO:0031011"(Ino80 complex)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035066"(positive regulation of histone acetylation)|go:"GO:0035267"(NuA4 histone acetyltransferase complex)|go:"GO:0040008"(regulation of growth)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043139"(5'-3' DNA helicase activity)|go:"GO:0043531"(ADP binding)|go:"GO:0043967"(histone H4 acetylation)|go:"GO:0043968"(histone H2A acetylation)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051117"(ATPase binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071169"(establishment of protein localization to chromatin)|go:"GO:0071339"(MLL1 complex)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:0016573"(histone acetylation)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:0097255"(R2TP complex)|go:"GO:0120293"(dynein axonemal particle)|refseq:NP_006657.1|refseq:XP_011524632.1|refseq:NP_001308120.1|dip:DIP-28153N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:APKAWLDCJVULUP3nzqIaSLHKVN49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O95785 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1387294|uniprotkb:B7ZM82|uniprotkb:Q4G0E0|uniprotkb:Q6P6B0|uniprotkb:Q6ZN24|uniprotkb:Q7LDY6|uniprotkb:Q7LDZ1|uniprotkb:Q96IG5|uniprotkb:Q96SQ6|uniprotkb:Q9BUR8|uniprotkb:Q9NPT1|intact:EBI-10967552|uniprotkb:B3KVH1|uniprotkb:M0QY21 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:wiz_human(display_long)|uniprotkb:WIZ(gene name)|psi-mi:WIZ(display_short)|uniprotkb:ZNF803(gene name synonym)|uniprotkb:Widely-interspaced zinc finger-containing protein(gene name synonym)|uniprotkb:Zinc finger protein 803(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_067064.2|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|refseq:NP_001317324.1|interpro:IPR036236|mint:O95785|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0010571"(positive regulation of nuclear cell cycle DNA replication)|go:"GO:0030496"(midbody)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990226"(histone methyltransferase binding) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:FMQwuMDlEC/Zdsnayyl7kpQSmyg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P07339 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2115097|uniprotkb:Q6IB57|ensembl:ENSP00000236671 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:catd_human(display_long)|uniprotkb:CTSD(gene name)|psi-mi:CTSD(display_short)|uniprotkb:CPSD(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001900.1|dip:DIP-43906N|ensembl:ENSG00000117984(gene)|ensembl:ENST00000236671(transcript)|go:"GO:0004190"(aspartic-type endopeptidase activity)|go:"GO:0004197"(cysteine-type endopeptidase activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0006508"(proteolysis)|go:"GO:0008233"(peptidase activity)|go:"GO:0010008"(endosome membrane)|go:"GO:0019886"(antigen processing and presentation of exogenous peptide antigen via MHC class II)|go:"GO:0035580"(specific granule lumen)|go:"GO:0042159"(lipoprotein catabolic process)|go:"GO:0042470"(melanosome)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043280"(positive regulation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0045121"(membrane raft)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070001"(aspartic-type peptidase activity)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070201"(regulation of establishment of protein localization)|go:"GO:1904724"(tertiary granule lumen)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR001461(Peptidase A1)|interpro:IPR001969(Peptidase aspartic, active site)|interpro:IPR012848(Propeptide, peptidase A1)|interpro:IPR021109|interpro:IPR033121|interpro:IPR033144|mint:P07339|rcsb pdb:1LYA|rcsb pdb:1LYB|rcsb pdb:1LYW|rcsb pdb:4OBZ|rcsb pdb:4OC6|rcsb pdb:4OD9|reactome:R-HSA-1442490|reactome:R-HSA-2022377|reactome:R-HSA-2132295|reactome:R-HSA-6798695|reactome:R-HSA-9018519 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:M1qLQBlL2DSCZiAwIPee9Vza3dU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E5RGM3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046477|ensembl:ENSP00000429996 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e5rgm3_human(display_long)|uniprotkb:SKP1(gene name)|psi-mi:SKP1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000113558(gene)|ensembl:ENST00000520417(transcript)|go:"GO:0006511"(ubiquitin-dependent protein catabolic process)|interpro:IPR001232(SKP1 component)|interpro:IPR011333(BTB/POZ fold)|interpro:IPR016073(SKP1 component, POZ) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Oas3V4RfJT99IesD2pzZa6Ikpgk9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3QLI9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26955521|ensembl:ENSP00000463568 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3qli9_human(display_long)|uniprotkb:SNRPD1(gene name)|psi-mi:SNRPD1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000167088(gene)|ensembl:ENST00000582475(transcript)|go:"GO:0006397"(mRNA processing)|interpro:IPR010920(Like-Sm ribonucleoprotein-related, core)|interpro:IPR027141 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:+ZY15c++RXF+wMY8JKgGr860JFE9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4E3S0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046460|ensembl:ENSP00000415554 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4e3s0_human(display_long)|uniprotkb:CORO1C(gene name)|psi-mi:CORO1C(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR027333|interpro:IPR036322|ensembl:ENSG00000110880(gene)|ensembl:ENST00000421578(transcript)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0051015"(actin filament binding)|interpro:IPR001680(WD40 repeat)|interpro:IPR015505(Coronin) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:wEK2G5UHddwDp5PTihtpzHWl71g9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H3BLX4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046450|ensembl:ENSP00000363818 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h3blx4_human(display_long)|uniprotkb:ZNF462(gene name)|psi-mi:ZNF462(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000148143(gene)|ensembl:ENST00000374686(transcript)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:1A+o1QgtbAuR80GxRqddBNPjmKA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P67870 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-348169|ensembl:ENSP00000365025|ensembl:ENSP00000365026|ensembl:ENSP00000365042|ensembl:ENSP00000372919|ensembl:ENSP00000372925|ensembl:ENSP00000382980|ensembl:ENSP00000390900|ensembl:ENSP00000391038|ensembl:ENSP00000393756|ensembl:ENSP00000394855|ensembl:ENSP00000395275|ensembl:ENSP00000400188|ensembl:ENSP00000407018|ensembl:ENSP00000407379|ensembl:ENSP00000409510|ensembl:ENSP00000410802|ensembl:ENSP00000411322|ensembl:ENSP00000412520|ensembl:ENSP00000413469|ensembl:ENSP00000415237|ensembl:ENSP00000415303|uniprotkb:P07312|uniprotkb:P13862|uniprotkb:Q4VX47|intact:EBI-3866975|uniprotkb:B0UXA9 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:csk2b_human(display_long)|uniprotkb:Phosvitin(gene name synonym)|uniprotkb:Protein G5a(gene name synonym)|uniprotkb:CSNK2B(gene name)|psi-mi:CSNK2B(display_short)|uniprotkb:CK2N(gene name synonym)|uniprotkb:G5A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000204435(gene)|ensembl:ENSG00000230700(gene)|ensembl:ENSG00000206406(gene)|ensembl:ENSG00000232960(gene)|ensembl:ENSG00000224398(gene)|ensembl:ENSG00000224774(gene)|ensembl:ENSG00000228875(gene)|ensembl:ENST00000375882(transcript)|ensembl:ENST00000383427(transcript)|ensembl:ENST00000383433(transcript)|ensembl:ENST00000400110(transcript)|ensembl:ENST00000412802(transcript)|ensembl:ENST00000418230(transcript)|ensembl:ENST00000422567(transcript)|ensembl:ENST00000429633(transcript)|ensembl:ENST00000431476(transcript)|ensembl:ENST00000436169(transcript)|ensembl:ENST00000443673(transcript)|ensembl:ENST00000448596(transcript)|ensembl:ENST00000451917(transcript)|ensembl:ENST00000452985(transcript)|ensembl:ENST00000453234(transcript)|ensembl:ENST00000454382(transcript)|ensembl:ENST00000454511(transcript)|ensembl:ENST00000455161(transcript)|ensembl:ENST00000458330(transcript)|go:"GO:0000785"(chromatin)|go:"GO:0003682"(chromatin binding)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005929"(cilium)|go:"GO:0005956"(protein kinase CK2 complex)|go:"GO:0007165"(signal transduction)|ensembl:ENST00000375865(transcript)|ensembl:ENST00000375866(transcript)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0010862"(positive regulation of pathway-restricted SMAD protein phosphorylation)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0016363"(nuclear matrix)|go:"GO:0018107"(peptidyl-threonine phosphorylation)|go:"GO:0019887"(protein kinase regulator activity)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0032927"(positive regulation of activin receptor signaling pathway)|go:"GO:0033211"(adiponectin-activated signaling pathway)|go:"GO:0033574"(response to testosterone)|go:"GO:0034622"|go:"GO:0034774"(secretory granule lumen)|go:"GO:0042802"(identical protein binding)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0043537"(negative regulation of blood vessel endothelial cell migration)|go:"GO:0046872"(metal ion binding)|go:"GO:0051101"(regulation of DNA binding)|go:"GO:0061154"(endothelial tube morphogenesis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0080163"(regulation of protein serine/threonine phosphatase activity)|go:"GO:0097421"(liver regeneration)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR000704(Casein kinase II, regulatory subunit)|interpro:IPR016149(Casein kinase II, regulatory subunit, alpha-helical)|interpro:IPR035991|mint:P67870|rcsb pdb:1DS5|rcsb pdb:1JWH|go:"GO:0008134"(transcription factor binding)|rcsb pdb:1QF8|rcsb pdb:3EED|rcsb pdb:4DGL|rcsb pdb:4MD7|rcsb pdb:4MD8|rcsb pdb:4MD9|rcsb pdb:4NH1|reactome:R-HSA-1483191|reactome:R-HSA-201688|reactome:R-HSA-2514853|reactome:R-HSA-445144|reactome:R-HSA-6798695|reactome:R-HSA-6804756|reactome:R-HSA-6814122|reactome:R-HSA-8932339|reactome:R-HSA-8934903|reactome:R-HSA-8939243|reactome:R-HSA-8948751|rcsb pdb:6Q38|refseq:NP_001311.3|refseq:NP_001269314.1|dip:DIP-131N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZTHJjCqHg2dE7B+WoSU28VSMuPg9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9JAB2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046433|ensembl:ENSP00000386806 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9jab2_human(display_long)|uniprotkb:SRSF7(gene name)|psi-mi:SRSF7(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000115875(gene)|ensembl:ENST00000409276(transcript)|go:"GO:0008270"(zinc ion binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR001878(Zinc finger, CCHC-type)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034651|interpro:IPR035979|interpro:IPR036875|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|refseq:XP_005264541.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:roxkI8vVSnF1nX3SCaYvrtVh1kA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A2ABF8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043459|ensembl:ENSP00000382888|ensembl:ENSP00000400861|ensembl:ENSP00000403402|ensembl:ENSP00000364678 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a2abf8_human(display_long)|uniprotkb:EHMT2(gene name)|psi-mi:EHMT2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000204371(gene)|ensembl:ENSG00000206376(gene)|ensembl:ENSG00000227333(gene)|ensembl:ENSG00000236759(gene)|ensembl:ENST00000375528(transcript)|ensembl:ENST00000400008(transcript)|ensembl:ENST00000428442(transcript)|ensembl:ENST00000443951(transcript)|go:"GO:0002039"(p53 binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0008270"(zinc ion binding)|go:"GO:0016607"(nuclear speck)|go:"GO:0018024"(histone-lysine N-methyltransferase activity)|interpro:IPR001214(SET)|interpro:IPR002110(Ankyrin)|interpro:IPR007728(Pre-SET zinc-binding region)|interpro:IPR020683|interpro:IPR036770|interpro:IPR038034|interpro:IPR043550|refseq:NP_001276342.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:vnNB36vR3gboorCKaQqjdqUXXEo9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UHI6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-347658|uniprotkb:Q96F72|uniprotkb:Q9NVM3|uniprotkb:Q9UF59|uniprotkb:Q9UIY0|uniprotkb:Q9Y659|uniprotkb:B4DWV7|ensembl:ENSP00000358716|ensembl:ENSP00000505857 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ddx20_human(display_long)|uniprotkb:DDX20(gene name)|psi-mi:DDX20(display_short)|uniprotkb:DP103(gene name synonym)|uniprotkb:GEMIN3(gene name synonym)|uniprotkb:DEAD box protein 20(gene name synonym)|uniprotkb:DEAD box protein DP 103(gene name synonym)|uniprotkb:Component of gems 3(gene name synonym)|uniprotkb:Gemin-3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_009135.4|ensembl:ENSP00000358716|ensembl:ENST00000533164|ensembl:ENSP00000434085|ensembl:ENSP00000505857|dip:DIP-32606N|ensembl:ENSG00000064703(gene)|ensembl:ENST00000369702(transcript)|ensembl:ENST00000679724(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000244"(spliceosomal tri-snRNP complex assembly)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0006396"(RNA processing)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030674"(protein-macromolecule adaptor activity)|go:"GO:0032797"(SMN complex)|go:"GO:0034719"(SMN-Sm protein complex)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0048477"(oogenesis)|go:"GO:0050810"(regulation of steroid biosynthetic process)|go:"GO:0090571"(RNA polymerase II transcription repressor complex)|go:"GO:0097504"(Gemini of coiled bodies)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR000629(RNA helicase, ATP-dependent, DEAD-box, conserved site)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR014014(RNA helicase, DEAD-box type, Q motif)|interpro:IPR027417|mint:Q9UHI6|rcsb pdb:2OXC|rcsb pdb:3B7G|reactome:R-HSA-191859|go:"GO:0043065"(positive regulation of apoptotic process) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Q9IGbhb825yL12imyTlBAHZ4YyU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P30041 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2255129|uniprotkb:A8JZY7|uniprotkb:P32077|uniprotkb:Q5TAH4|uniprotkb:Q5ZEZ8|ensembl:ENSP00000342026 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:prdx6_human(display_long)|uniprotkb:PRDX6(gene name)|psi-mi:PRDX6(display_short)|uniprotkb:AOP2(gene name synonym)|uniprotkb:KIAA0106(gene name synonym)|uniprotkb:Antioxidant protein 2(gene name synonym)|uniprotkb:1-Cys peroxiredoxin(gene name synonym)|uniprotkb:Acidic calcium-independent phospholipase A2(gene name synonym)|uniprotkb:Non-selenium glutathione peroxidase(gene name synonym)|uniprotkb:24 kDa protein(gene name synonym)|uniprotkb:Liver 2D page spot 40(gene name synonym)|uniprotkb:Red blood cells page spot 12(gene name synonym)|uniprotkb:Glutathione-dependent peroxiredoxin(gene name synonym)|uniprotkb:Lysophosphatidylcholine acyltransferase 5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004896.1|ensembl:ENSG00000117592(gene)|ensembl:ENST00000340385(transcript)|go:"GO:0004602"(glutathione peroxidase activity)|go:"GO:0004623"(phospholipase A2 activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|go:"GO:0006979"(response to oxidative stress)|go:"GO:0016020"(membrane)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0042802"(identical protein binding)|go:"GO:0045296"(cadherin binding)|go:"GO:0045454"(cell redox homeostasis)|go:"GO:0046475"(glycerophospholipid catabolic process)|go:"GO:0047184"(1-acylglycerophosphocholine O-acyltransferase activity)|go:"GO:0047499"(calcium-independent phospholipase A2 activity)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051920"(peroxiredoxin activity)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098869"(cellular oxidant detoxification)|go:"GO:0102567"|go:"GO:0102568"|interpro:IPR000866(Alkyl hydroperoxide reductase/ Thiol specific antioxidant/ Mal allergen)|interpro:IPR013766(Thioredoxin domain)|interpro:IPR019479|interpro:IPR024706|interpro:IPR036249|rcsb pdb:1PRX|rcsb pdb:5B6M|rcsb pdb:5B6N|reactome:R-HSA-3299685|reactome:R-HSA-6798695|go:"GO:0042744"(hydrogen peroxide catabolic process) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZMsHgrAJf0VJiCELzo+zSi8Ji+49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P23588 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-970310|ensembl:ENSP00000262056|uniprotkb:Q4G0E3|uniprotkb:Q53HQ2|uniprotkb:Q6GPH5|uniprotkb:Q6IB46|uniprotkb:Q8WYK5|uniprotkb:B4DS13 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:if4b_human(display_long)|uniprotkb:EIF4B(gene name)|psi-mi:EIF4B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000063046(gene)|ensembl:ENST00000262056(transcript)|go:"GO:0001731"(formation of translation preinitiation complex)|go:"GO:0003723"(RNA binding)|go:"GO:0003743"(translation initiation factor activity)|go:"GO:0005829"(cytosol)|go:"GO:0006446"(regulation of translational initiation)|go:"GO:0016281"(eukaryotic translation initiation factor 4F complex)|go:"GO:0030425"(dendrite)|go:"GO:0033592"(RNA strand annealing activity)|go:"GO:0034057"(RNA strand-exchange activity)|go:"GO:0043024"(ribosomal small subunit binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0097010"(eukaryotic translation initiation factor 4F complex assembly)|go:"GO:0098794"(postsynapse)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR033107|interpro:IPR035979|mint:P23588|rcsb pdb:1WI8|rcsb pdb:2J76|rcsb pdb:6FEC|reactome:R-HSA-156827|reactome:R-HSA-166208|reactome:R-HSA-429947|reactome:R-HSA-72649|reactome:R-HSA-72662|reactome:R-HSA-72702|reactome:R-HSA-72706|refseq:NP_001408.2|refseq:NP_001317583.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6QlRkSj6suC5apkUxdZhOq+OMBc9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92769 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-301821|uniprotkb:Q5SRI8|uniprotkb:Q5SZ86|uniprotkb:Q8NEH4|uniprotkb:B4DL58|ensembl:ENSP00000430432|uniprotkb:E1P561|uniprotkb:B3KRS5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hdac2_human(display_long)|uniprotkb:HDAC2(gene name)|psi-mi:HDAC2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0009913"(epidermal cell differentiation)|go:"GO:0010718"(positive regulation of epithelial to mesenchymal transition)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0016358"(dendrite development)|go:"GO:0016575"(histone deacetylation)|go:"GO:0016580"(Sin3 complex)|go:"GO:0016581"(NuRD complex)|go:"GO:0019213"(deacetylase activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0031000"(response to caffeine)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0032041"("NAD-dependent histone deacetylase activity (H3-K14 specific)")|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032732"(positive regulation of interleukin-1 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032967"(positive regulation of collagen biosynthetic process)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033558"(protein deacetylase activity)|go:"GO:0034605"(cellular response to heat)|go:"GO:0035094"(response to nicotine)|go:"GO:0035098"("ESC/E(Z) complex")|go:"GO:0042220"(response to cocaine)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0042493"|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042733"(embryonic digit morphogenesis)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043044"|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043392"(negative regulation of DNA binding)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045347"(negative regulation of MHC class II biosynthetic process)|go:"GO:0045862"(positive regulation of proteolysis)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048149"(behavioral response to ethanol)|go:"GO:0004407"(histone deacetylase activity)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0055093"(response to hyperoxia)|go:"GO:0060789"(hair follicle placode formation)|go:"GO:0061000"(negative regulation of dendritic spine development)|go:"GO:0061029"(eyelid development in camera-type eye)|go:"GO:0061198"(fungiform papilla formation)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070301"(cellular response to hydrogen peroxide)|go:"GO:0070829"(obsolete heterochromatin maintenance)|go:"GO:0070932"(histone H3 deacetylation)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:0071300"(cellular response to retinoic acid)|go:"GO:0071560"(cellular response to transforming growth factor beta stimulus)|go:"GO:1902437"(positive regulation of male mating behavior)|go:"GO:1903351"(cellular response to dopamine)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:2000273"(positive regulation of signaling receptor activity)|go:"GO:2000757"(negative regulation of peptidyl-lysine acetylation)|interpro:IPR000286(Histone deacetylase superfamily)|interpro:IPR003084(Histone deacetylase)|interpro:IPR023696|interpro:IPR023801|interpro:IPR037138|mint:Q92769|rcsb pdb:3MAX|rcsb pdb:4LXZ|rcsb pdb:4LY1|rcsb pdb:5IWG|rcsb pdb:5IX0|rcsb pdb:6G3O|rcsb pdb:6WBW|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|ensembl:ENSG00000196591(gene)|ensembl:ENST00000519065(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0001975"(response to amphetamine)|go:"GO:0003300"(cardiac muscle hypertrophy)|go:"GO:0003682"(chromatin binding)|go:"GO:0003723"(RNA binding)|rcsb pdb:6WHN|rcsb pdb:6WHO|rcsb pdb:6WHQ|rcsb pdb:6WHZ|rcsb pdb:6WI3|rcsb pdb:6XDM|rcsb pdb:6XEB|rcsb pdb:6XEC|rcsb pdb:7KBG|rcsb pdb:7KBH|rcsb pdb:7LTG|rcsb pdb:7LTK|rcsb pdb:7LTL|reactome:R-HSA-193670|reactome:R-HSA-2122947|reactome:R-HSA-2644606|reactome:R-HSA-2894862|reactome:R-HSA-3214815|reactome:R-HSA-350054|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-4551638|reactome:R-HSA-6804758|reactome:R-HSA-73762|reactome:R-HSA-8943724|reactome:R-HSA-9022692|reactome:R-HSA-9022699|reactome:R-HSA-9615017|reactome:R-HSA-9619665|reactome:R-HSA-9679191|reactome:R-HSA-983231|rcsb pdb:6WBZ|refseq:NP_001518.3|dip:DIP-24220N|refseq:XP_011534090.1|refseq:XP_016866288.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:K4PpGz9E9/TrQZsgvrJuc+uYCn89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P12107 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2528334|uniprotkb:B1ASK7|uniprotkb:Q14034|uniprotkb:Q9UIT4|uniprotkb:Q9UIT5|uniprotkb:Q9UIT6|uniprotkb:D3DT73|ensembl:ENSP00000359114|uniprotkb:E9PCU0|uniprotkb:Q149N0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:coba1_human(display_long)|uniprotkb:COL11A1(gene name)|psi-mi:COL11A1(display_short)|uniprotkb:COLL6(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_542197.3|go:"GO:0055010"(ventricular cardiac muscle tissue morphogenesis)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:1904399"(heparan sulfate binding)|interpro:IPR000885(Fibrillar collagen, C-terminal)|interpro:IPR001791(Laminin G)|interpro:IPR008160(Collagen triple helix repeat)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|reactome:R-HSA-1442490|reactome:R-HSA-1650814|reactome:R-HSA-2022090|reactome:R-HSA-3000171|reactome:R-HSA-8874081|reactome:R-HSA-8948216|go:"GO:0050910"(detection of mechanical stimulus involved in sensory perception of sound)|ensembl:ENSG00000060718(gene)|ensembl:ENST00000370096(transcript)|go:"GO:0001502"(cartilage condensation)|go:"GO:0001503"(ossification)|go:"GO:0002063"(chondrocyte development)|go:"GO:0005201"(extracellular matrix structural constituent)|go:"GO:0005576"(extracellular region)|go:"GO:0005592"(collagen type XI trimer)|go:"GO:0005615"(extracellular space)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0006029"(proteoglycan metabolic process)|go:"GO:0007601"(visual perception)|go:"GO:0007605"(sensory perception of sound)|go:"GO:0008201"(heparin binding)|go:"GO:0030198"(extracellular matrix organization)|go:"GO:0030199"(collagen fibril organization)|go:"GO:0030674"(protein-macromolecule adaptor activity)|go:"GO:0031012"(extracellular matrix)|go:"GO:0035987"(endodermal cell differentiation)|go:"GO:0035989"(tendon development)|go:"GO:0042472"(inner ear morphogenesis)|go:"GO:0046872"(metal ion binding)|go:"GO:0048704"(embryonic skeletal system morphogenesis)|go:"GO:0050840"(extracellular matrix binding)|refseq:NP_001177638.1|refseq:NP_001845.3|refseq:NP_542196.2 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:q15Q/VAKyOyoG4hNQU50RRoQ4mQ9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A8MXP9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11047772|ensembl:ENSP00000378279|ensembl:ENSP00000422319 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a8mxp9_human(display_long)|uniprotkb:MATR3(gene name)|psi-mi:MATR3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000280987(gene)|ensembl:ENST00000394800(transcript)|ensembl:ENST00000502929(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0008270"(zinc ion binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR000690(Zinc finger, C2H2-type matrin)|interpro:IPR003604(Zinc finger, U1-type)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034928|interpro:IPR034930|interpro:IPR035979 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:wKteoVkJ4nVjDKLhSHVdcVvm9Zw9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q09028 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-620823|uniprotkb:B4DRH0|ensembl:ENSP00000362592|uniprotkb:P31149|uniprotkb:Q53H02|uniprotkb:Q96BV9|uniprotkb:D3DPQ3|uniprotkb:B2R6G9 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rbbp4_human(display_long)|uniprotkb:Retinoblastoma-binding protein 4(gene name synonym)|uniprotkb:Retinoblastoma-binding protein p48(gene name synonym)|uniprotkb:Chromatin assembly factor 1 subunit C(gene name synonym)|uniprotkb:Chromatin assembly factor I p48 subunit(gene name synonym)|uniprotkb:Nucleosome-remodeling factor subunit RBAP48(gene name synonym)|uniprotkb:RBBP4(gene name)|psi-mi:RBBP4(display_short)|uniprotkb:RBAP48(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000162521(gene)|ensembl:ENST00000373493(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006260"(DNA replication)|go:"GO:0006335"(DNA replication-dependent chromatin assembly)|go:"GO:0006336"(DNA replication-independent chromatin assembly)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0007049"(cell cycle)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016580"(Sin3 complex)|go:"GO:0016581"(NuRD complex)|go:"GO:0016589"(NURF complex)|go:"GO:0031497"(chromatin assembly)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033186"(CAF-1 complex)|go:"GO:0035098"("ESC/E(Z) complex")|go:"GO:0042393"(histone binding)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043044"|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR020472|interpro:IPR022052|mint:Q09028|rcsb pdb:2XU7|rcsb pdb:3GFC|rcsb pdb:4PBY|rcsb pdb:4PBZ|rcsb pdb:4PC0|rcsb pdb:4R7A|rcsb pdb:5FXY|rcsb pdb:5VTB|rcsb pdb:5WAI|rcsb pdb:5WAK|rcsb pdb:5XWR|rcsb pdb:5XXQ|rcsb pdb:5Y1U|rcsb pdb:6BW3|rcsb pdb:6BW4|rcsb pdb:6C23|rcsb pdb:6C24|rcsb pdb:6G16|rcsb pdb:6NQ3|rcsb pdb:6WKR|rcsb pdb:6ZRC|rcsb pdb:6ZRD|rcsb pdb:7AOA|rcsb pdb:7KSO|rcsb pdb:7KSR|rcsb pdb:7KTP|rcsb pdb:7M40|reactome:R-HSA-1362277|reactome:R-HSA-1362300|reactome:R-HSA-1538133|reactome:R-HSA-156711|reactome:R-HSA-212300|reactome:R-HSA-2559580|reactome:R-HSA-3214815|reactome:R-HSA-3214841|reactome:R-HSA-427389|reactome:R-HSA-5617472|reactome:R-HSA-606279|reactome:R-HSA-6804758|reactome:R-HSA-69202|reactome:R-HSA-69205|reactome:R-HSA-69656|reactome:R-HSA-73762|reactome:R-HSA-8943724|reactome:R-HSA-8953750|reactome:R-HSA-9609690|reactome:R-HSA-9679191|reactome:R-HSA-9710421|interpro:IPR036322|refseq:NP_001128727.1|refseq:NP_001128728.1|refseq:NP_005601.1|dip:DIP-33495N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:CbyJMIjpW1A4sZijP0IGRYc8o4I9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A7XYQ1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-717456|uniprotkb:Q8N2B2|uniprotkb:Q5BJD4|uniprotkb:B0QZ12|ensembl:ENSP00000318900 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sobp_human(display_long)|uniprotkb:JXC1(gene name synonym)|uniprotkb:Jackson circler protein 1(gene name synonym)|uniprotkb:SOBP(gene name)|psi-mi:SOBP(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_060483.3|ensembl:ENSP00000318900|ensembl:ENSG00000112320(gene)|ensembl:ENST00000317357(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0007605"(sensory perception of sound)|go:"GO:0007626"(locomotory behavior)|go:"GO:0032184"(SUMO polymer binding)|go:"GO:0042472"(inner ear morphogenesis)|go:"GO:0046872"(metal ion binding)|go:"GO:0050890"(cognition)|go:"GO:0090102"(cochlea development)|interpro:IPR026092 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:KRJkCrk5dT9piipowqs1gGrjX3w9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5JYC0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046424|ensembl:ENSP00000364830 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:q5jyc0_human(display_long)|uniprotkb:NOL4L(gene name)|psi-mi:NOL4L(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000197183(gene)|ensembl:ENST00000375678(transcript)|interpro:IPR026746|interpro:IPR039788 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uv23A/qecYkVZ6h4WUJF3aDRf2o9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q03112 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1384862|uniprotkb:Q16122|uniprotkb:Q99917|uniprotkb:C9JAK0|uniprotkb:Q5HYI1|uniprotkb:Q6MZS6|uniprotkb:Q8NEI5|uniprotkb:A1L4F3|uniprotkb:A8KA00|uniprotkb:B7Z8W7|uniprotkb:B7ZLQ3|uniprotkb:B7ZLQ4|uniprotkb:D3DNP7|ensembl:ENSP00000417899|intact:EBI-8475192|intact:MINT-8417693|uniprotkb:E7EQ57|uniprotkb:Q13465|uniprotkb:Q13466|uniprotkb:Q6FH90 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mecom_human(display_long)|uniprotkb:MECOM(gene name)|psi-mi:MECOM(display_short)|uniprotkb:EVI1(gene name synonym)|uniprotkb:Ecotropic virus integration site 1 protein homolog(gene name synonym)|uniprotkb:MDS1(gene name synonym)|uniprotkb:Myelodysplasia syndrome 1 protein(gene name synonym)|uniprotkb:Myelodysplasia syndrome-associated protein 1(gene name synonym)|uniprotkb:MDS1 and EVI1 complex locus protein(gene name synonym)|uniprotkb:PRDM3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001098547.3|refseq:NP_001098548.2|refseq:NP_001157471.1|refseq:NP_001157472.1|refseq:NP_001192123.1|refseq:NP_004982.2|refseq:NP_005232.2|ensembl:ENSG00000085276(gene)|ensembl:ENST00000494292(transcript)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0001228"(DNA-binding transcription activator activity, RNA polymerase II-specific)|go:"GO:0003677"(DNA binding)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006915"(apoptotic process)|go:"GO:0016607"(nuclear speck)|go:"GO:0018024"(histone-lysine N-methyltransferase activity)|go:"GO:0030154"(cell differentiation)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043069"(negative regulation of programmed cell death)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0046329"(negative regulation of JNK cascade)|go:"GO:0046872"(metal ion binding)|go:"GO:0046974"("histone methyltransferase activity (H3-K9 specific)")|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0070828"(heterochromatin organization)|go:"GO:0071425"(hematopoietic stem cell proliferation)|interpro:IPR001214(SET)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR044411|mint:Q03112|rcsb pdb:6BW3|reactome:R-HSA-3214841|reactome:R-HSA-8943724|interpro:IPR036236|refseq:XP_016861363.1|refseq:XP_016861364.1|refseq:XP_016861365.1|refseq:XP_005247278.1|refseq:XP_005247280.1|refseq:XP_005247272.1|dip:DIP-38639N|refseq:XP_005247276.1|refseq:XP_005247277.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:MAlEIuVZS4+BNoy50jejv2O30WA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13509 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350989|uniprotkb:Q9BTZ0|uniprotkb:Q9BW10|ensembl:ENSP00000320295|uniprotkb:A8K854 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb3_human(display_long)|uniprotkb:TUBB3(gene name)|psi-mi:TUBB3(display_short)|uniprotkb:TUBB4(gene name synonym)|uniprotkb:Tubulin beta-III(gene name synonym)|uniprotkb:Tubulin beta-4 chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001184110.1|refseq:NP_006077.2|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|reactome:R-HSA-6807878|ensembl:ENSG00000258947(gene)|ensembl:ENST00000315491(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0007411"(axon guidance)|go:"GO:0030027"(lamellipodium)|go:"GO:0030175"(filopodium)|go:"GO:0030424"(axon)|go:"GO:0030425"(dendrite)|go:"GO:0030426"(growth cone)|go:"GO:0042277"(peptide binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071944"(cell periphery)|go:"GO:1990791"(dorsal root ganglion development)|go:"GO:1990890"(netrin receptor binding)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:Q13509|rcsb pdb:5IJ9|rcsb pdb:5JCO|rcsb pdb:6E7B|rcsb pdb:6S8L|rcsb pdb:6WSL|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|rcsb pdb:5IJ0|dip:DIP-31505N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:A69G+idFQmuzkmCsGyBtGVqglSo9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9J5S7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26879126|ensembl:ENSP00000405975 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9j5s7_human(display_long)|uniprotkb:PPIA(gene name)|psi-mi:PPIA(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000196262(gene)|ensembl:ENST00000451562(transcript)|go:"GO:0003755"(peptidyl-prolyl cis-trans isomerase activity)|go:"GO:0006457"(protein folding)|interpro:IPR002130(Peptidyl-prolyl cis-trans isomerase, cyclophilin-type)|interpro:IPR020892|interpro:IPR024936|interpro:IPR029000 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:s1Lz6+p/80rI9nDeXpXXZaAMAAs9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F8VSC5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046411|ensembl:ENSP00000448366 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f8vsc5_human(display_long)|uniprotkb:SCYL2(gene name)|psi-mi:SCYL2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000136021(gene)|ensembl:ENST00000549687(transcript)|go:"GO:0004672"(protein kinase activity)|go:"GO:0005524"(ATP binding)|interpro:IPR000719(Protein kinase, core)|interpro:IPR011009(Protein kinase-like)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR016024(Armadillo-type fold) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nlBtD1vx+9lZklBzyhUDVq3rFX49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15042 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-310697|uniprotkb:A0PJ60|uniprotkb:Q0D2M1|uniprotkb:Q2NKQ7|uniprotkb:Q9BR70|intact:EBI-2555384|ensembl:ENSP00000418563 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sr140_human(display_long)|uniprotkb:KIAA0332(gene name synonym)|uniprotkb:U2SURP(gene name)|psi-mi:U2SURP(display_short)|uniprotkb:140 kDa Ser/Arg-rich domain protein(gene name synonym)|uniprotkb:SR140(gene name synonym)|uniprotkb:U2-associated protein SR140(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001073884.1|refseq:NP_001307148.1|refseq:NP_001307149.1|refseq:NP_001307151.1|ensembl:ENSG00000163714(gene)|ensembl:ENST00000473835(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006396"(RNA processing)|interpro:IPR000061(SWAP/Surp)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR006569(Regulation of nuclear pre-mRNA protein)|interpro:IPR008942(ENTH/VHS)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR013170(mRNA splicing factor, Cwf21)|interpro:IPR035009|interpro:IPR035967|interpro:IPR035979|reactome:R-HSA-72163|refseq:XP_016861527.1|refseq:XP_016861528.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:STKTFD8Cu0GQMj+HSpn3qgIEw4c9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B8ZZU8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046395|ensembl:ENSP00000387189 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b8zzu8_human(display_long)|uniprotkb:ELOB(gene name)|psi-mi:ELOB(display_short)|uniprotkb:TCEB2(gene name synonym)|uniprotkb:hCG_1778969(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000103363(gene)|ensembl:ENST00000409477(transcript)|go:"GO:0003746"(translation elongation factor activity)|go:"GO:0006368"(transcription elongation from RNA polymerase II promoter)|go:"GO:0030891"(VCB complex)|go:"GO:0070449"(elongin complex)|interpro:IPR000626(Ubiquitin)|interpro:IPR029071|interpro:IPR039049 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:yUtBQuhip5XbISJ9YlhrQCB1RrA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y6E7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044041|ensembl:ENSP00000405117 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y6e7_human(display_long)|uniprotkb:RBMX(gene name)|psi-mi:RBMX(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000147274(gene)|ensembl:ENST00000419968(transcript)|go:"GO:0003723"(RNA binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR003954(RNA recognition, region 1)|interpro:IPR012604(RBM1CTR)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qwBtrHgoUSMYb3hfrWsqOdn/XiI9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75533 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-876542|ensembl:ENSP00000335321|uniprotkb:E9PCH3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sf3b1_human(display_long)|uniprotkb:Pre-mRNA-splicing factor SF3b 155 kDa subunit(gene name synonym)|uniprotkb:Spliceosome-associated protein 155(gene name synonym)|uniprotkb:SF3B1(gene name)|psi-mi:SF3B1(display_short)|uniprotkb:SAP155(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000115524(gene)|ensembl:ENST00000335508(transcript)|go:"GO:0000245"(spliceosomal complex assembly)|go:"GO:0000375"(RNA splicing, via transesterification reactions)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005686"(U2 snRNP)|go:"GO:0005689"(U12-type spliceosomal complex)|go:"GO:0008380"(RNA splicing)|go:"GO:0016607"(nuclear speck)|go:"GO:0034693"(U11/U12 snRNP)|go:"GO:0071004"(U2-type prespliceosome)|go:"GO:0071005"(U2-type precatalytic spliceosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1990935"(splicing factor binding)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR015016(Splicing factor 3B subunit 1)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR038737|mint:O75533|rcsb pdb:2F9D|rcsb pdb:2F9J|rcsb pdb:2FHO|rcsb pdb:2PEH|rcsb pdb:3LQV|rcsb pdb:4OZ1|rcsb pdb:5IFE|rcsb pdb:5O9Z|rcsb pdb:5Z56|rcsb pdb:5Z57|rcsb pdb:5Z58|rcsb pdb:5ZYA|rcsb pdb:6AH0|rcsb pdb:6AHD|rcsb pdb:6EN4|rcsb pdb:6FF4|rcsb pdb:6FF7|rcsb pdb:6N3E|refseq:NP_036565.2|dip:DIP-29411N|rcsb pdb:6QX9|rcsb pdb:6Y50|rcsb pdb:6Y53|rcsb pdb:6Y5Q|rcsb pdb:7ABG|rcsb pdb:7ABH|rcsb pdb:7ABI|rcsb pdb:7DVQ|reactome:R-HSA-5250924|reactome:R-HSA-72163|reactome:R-HSA-72165 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2KqZNVdZoItavA0DFR3zZ16U0tI9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NUQ6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-5280638|uniprotkb:A8K381|uniprotkb:B7WNZ7|uniprotkb:Q53T22|uniprotkb:Q8WV53|uniprotkb:Q8WYG1|uniprotkb:Q9NTW4|uniprotkb:B4DRE6|uniprotkb:B4DT67|ensembl:ENSP00000351503|ensembl:ENSP00000386336|ensembl:ENSP00000386730|ensembl:ENSP00000386931|ensembl:ENSP00000391467 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sps2l_human(display_long)|uniprotkb:SPATS2L(gene name)|psi-mi:SPATS2L(display_short)|uniprotkb:DNAPTP6(gene name synonym)|uniprotkb:DNA polymerase-transactivated protein 6(gene name synonym)|uniprotkb:Stress granule and nucleolar protein(gene name synonym)|uniprotkb:SP1224(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001269664.1|refseq:NP_001269672.1|refseq:XP_011509240.1|refseq:XP_011509241.1|refseq:NP_001093892.1|refseq:NP_001093893.1|refseq:NP_001093894.1|refseq:NP_056350.2|refseq:XP_005246513.1|refseq:XP_005246514.1|refseq:XP_005246515.1|refseq:XP_005246516.1|refseq:NP_001269673.1|refseq:XP_016859272.1|refseq:XP_016859274.1|refseq:XP_016859275.1|refseq:XP_016859276.1|ensembl:ENSG00000196141(gene)|ensembl:ENST00000358677(transcript)|ensembl:ENST00000409140(transcript)|ensembl:ENST00000409718(transcript)|ensembl:ENST00000409988(transcript)|ensembl:ENST00000451764(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0032991"(protein-containing complex)|interpro:IPR009060(UBA-like)|interpro:IPR009816(Protein of unknown function DUF1387)|mint:Q9NUQ6 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B+nzSpiu2ECSVNxsajBSZrk6dhA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O00567 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-396034|uniprotkb:Q2M3T6|uniprotkb:Q9NQ05|ensembl:ENSP00000370589 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nop56_human(display_long)|uniprotkb:NOP56(gene name)|psi-mi:NOP56(display_short)|uniprotkb:NOL5A(gene name synonym)|uniprotkb:Nucleolar protein 5A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006383.2|ensembl:ENSG00000101361(gene)|ensembl:ENST00000329276(transcript)|go:"GO:0001650"(fibrillar center)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005732"("sno(s)RNA-containing ribonucleoprotein complex")|go:"GO:0005737"(cytoplasm)|go:"GO:0006364"(rRNA processing)|go:"GO:0016020"(membrane)|go:"GO:0030515"(snoRNA binding)|go:"GO:0031428"(box C/D RNP complex)|go:"GO:0032040"(small-subunit processome)|go:"GO:0045296"(cadherin binding)|go:"GO:0070761"(pre-snoRNP complex)|go:"GO:1990226"(histone methyltransferase binding)|interpro:IPR002687(Pre-mRNA processing ribonucleoprotein, binding region)|interpro:IPR012974(NOP5, N-terminal)|interpro:IPR012976(NOSIC)|interpro:IPR036070|interpro:IPR042239|mint:O00567|reactome:R-HSA-390471|reactome:R-HSA-6790901|reactome:R-HSA-6791226 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nXIsxj5Spl+kflK0yGJFykVylmA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KT73 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26961988|ensembl:ENSP00000462837 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3kt73_human(display_long)|uniprotkb:RPL38(gene name)|psi-mi:RPL38(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000172809(gene)|ensembl:ENST00000534490(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR002675(Ribosomal protein L38e)|interpro:IPR038464 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:CN9dHx7lkNFs079hgSz/plPOHA89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0QXS5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11897460|ensembl:ENSP00000469349 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0qxs5_human(display_long)|uniprotkb:HNRNPL(gene name)|psi-mi:HNRNPL(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000104824(gene)|ensembl:ENST00000601449(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006397"(mRNA processing)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR006536(HnRNP-L/PTB/hephaestus splicing factor)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR021790|interpro:IPR034816|interpro:IPR034817|interpro:IPR035005|interpro:IPR035008|interpro:IPR035979 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:tMnqE8suzol5lFcvM9Vp1pf63DI9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P83916 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-78129|uniprotkb:P23197|ensembl:ENSP00000225603|ensembl:ENSP00000377060 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cbx1_human(display_long)|uniprotkb:CBX1(gene name)|psi-mi:CBX1(display_short)|uniprotkb:CBX(gene name synonym)|uniprotkb:Heterochromatin protein 1 homolog beta(gene name synonym)|uniprotkb:Modifier 1 protein(gene name synonym)|uniprotkb:M31(gene name synonym)|uniprotkb:Heterochromatin protein p25(gene name synonym)|uniprotkb:p25beta(gene name synonym)|uniprotkb:HP1Hsbeta(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000108468(gene)|ensembl:ENST00000225603(transcript)|ensembl:ENST00000393408(transcript)|go:"GO:0000775"(chromosome, centromeric region)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000785"(chromatin)|go:"GO:0000792"(heterochromatin)|go:"GO:0001939"(female pronucleus)|go:"GO:0001940"(male pronucleus)|go:"GO:0003682"(chromatin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005721"(pericentric heterochromatin)|go:"GO:0005819"(spindle)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0010369"(chromocenter)|go:"GO:0019899"(enzyme binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0090734"(site of DNA damage)|go:"GO:1990226"(histone methyltransferase binding)|interpro:IPR000953(Chromo domain)|interpro:IPR008251(Chromo shadow)|interpro:IPR016197(Chromo domain-like)|interpro:IPR017984|interpro:IPR023779|interpro:IPR023780|mint:P83916|rcsb pdb:2FMM|rcsb pdb:3F2U|rcsb pdb:3Q6S|rcsb pdb:5T1G|rcsb pdb:6D07|rcsb pdb:6D08|reactome:R-HSA-9609690|refseq:NP_001120700.1|refseq:NP_006798.1|dip:DIP-28135N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:W2npW/vFRcuTkStKpknsAP69q6I9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E1P5S2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046375 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e1p5s2_human(display_long)|uniprotkb:RNPC2(gene name)|psi-mi:RNPC2(display_short)|uniprotkb:hCG_38221(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006397"(mRNA processing)|refseq:NP_001310352.1|refseq:XP_006723953.1|refseq:XP_006723954.1|refseq:XP_011527413.1|refseq:XP_016883628.1|refseq:XP_016883629.1|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979|interpro:IPR029123|interpro:IPR006509(Splicing factor, CC1-like)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR003954(RNA recognition, region 1) intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:roa3AB0aPRFnvcKARtCH/+FrCAo9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15233 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350527|ensembl:ENSP00000503233|uniprotkb:O00201|uniprotkb:P30807|uniprotkb:Q12786|uniprotkb:Q9BQC5|ensembl:ENSP00000276079|ensembl:ENSP00000362947|ensembl:ENSP00000406673|ensembl:ENSP00000410299|ensembl:ENSP00000415777|ensembl:ENSP00000503031|ensembl:ENSP00000504314|ensembl:ENSP00000504351|uniprotkb:D3DVV4|uniprotkb:B7Z4C2|uniprotkb:F5GYZ3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nono_human(display_long)|uniprotkb:NONO(gene name)|psi-mi:NONO(display_short)|uniprotkb:NRB54(gene name synonym)|uniprotkb:54 kDa nuclear RNA- and DNA-binding protein(gene name synonym)|uniprotkb:"p54(nrb)"(gene name synonym)|uniprotkb:55 kDa nuclear protein(gene name synonym)|uniprotkb:NMT55(gene name synonym)|uniprotkb:DNA-binding p52/p100 complex, 52 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001138880.1|refseq:NP_001138881.1|refseq:NP_001138882.1|refseq:NP_031389.3|ensembl:ENSG00000147140(gene)|ensembl:ENST00000276079(transcript)|ensembl:ENST00000373841(transcript)|ensembl:ENST00000420903(transcript)|ensembl:ENST00000450092(transcript)|ensembl:ENST00000454976(transcript)|ensembl:ENST00000677274(transcript)|ensembl:ENST00000677446(transcript)|ensembl:ENST00000677612(transcript)|ensembl:ENST00000678231(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0000976"(transcription cis-regulatory region binding)|go:"GO:0001650"(fibrillar center)|go:"GO:0002218"(activation of innate immune response)|go:"GO:0003676"(nucleic acid binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006281"(DNA repair)|go:"GO:0006310"(DNA recombination)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0006397"(mRNA processing)|go:"GO:0007623"(circadian rhythm)|go:"GO:0008380"(RNA splicing)|go:"GO:0016020"(membrane)|go:"GO:0016363"(nuclear matrix)|go:"GO:0016607"(nuclear speck)|go:"GO:0042382"(paraspeckles)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0042802"(identical protein binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0090575"(RNA polymerase II transcription regulator complex)|go:"GO:1903377"(negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR012975(NOPS)|interpro:IPR034552|interpro:IPR035979|mint:Q15233|rcsb pdb:3SDE|rcsb pdb:5IFM|rcsb pdb:6WMZ|rcsb pdb:7LRQ|dip:DIP-29951N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5W3ooO4h0qh3GKO+WjDrLBhihHA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DY08 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-5280071|ensembl:ENSP00000338095|ensembl:ENSP00000450548 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dy08_human(display_long)|uniprotkb:HNRNPC(gene name)|psi-mi:HNRNPC(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000092199(gene)|ensembl:ENST00000336053(transcript)|ensembl:ENST00000553753(transcript)|go:"GO:0003723"(RNA binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR017347(Heterogeneous nuclear ribonucleoprotein C, Raly)|interpro:IPR035979 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HcgkZx39n1zM/h/T3e/HHG21NEA9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q99496 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-722416|uniprotkb:Q5TEN1|uniprotkb:Q5TEN2|uniprotkb:B2RBS7|uniprotkb:B3KRH1|ensembl:ENSP00000356480 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ring2_human(display_long)|uniprotkb:RING finger protein 2(gene name synonym)|uniprotkb:RING finger protein 1B(gene name synonym)|uniprotkb:RING finger protein BAP-1(gene name synonym)|uniprotkb:Protein DinG(gene name synonym)|uniprotkb:Huntingtin-interacting protein 2-interacting protein 3(gene name synonym)|uniprotkb:RNF2(gene name)|psi-mi:RNF2(display_short)|uniprotkb:BAP1(gene name synonym)|uniprotkb:DING(gene name synonym)|uniprotkb:HIPI3(gene name synonym)|uniprotkb:RING1B(gene name synonym)|uniprotkb:RING-type E3 ubiquitin transferase RING2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_009143.1|refseq:XP_011508153.1|refseq:XP_011508154.1|dip:DIP-40034N|ensembl:ENSG00000121481(gene)|ensembl:ENST00000367510(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000151"(ubiquitin ligase complex)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0000791"(euchromatin)|go:"GO:0001702"(gastrulation with mouth forming second)|go:"GO:0001739"(sex chromatin)|go:"GO:0003682"(chromatin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0007281"(germ cell development)|go:"GO:0008270"(zinc ion binding)|go:"GO:0009948"(anterior/posterior axis specification)|go:"GO:0010467"(gene expression)|go:"GO:0016604"(nuclear body)|go:"GO:0031519"(PcG protein complex)|go:"GO:0035102"(PRC1 complex)|go:"GO:0035518"(histone H2A monoubiquitination)|go:"GO:0036353"(histone H2A-K119 monoubiquitination)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0061630"(ubiquitin protein ligase activity)|go:"GO:0071339"(MLL1 complex)|go:"GO:0071535"(RING-like zinc finger domain binding)|interpro:IPR001841(Zinc finger, RING-type)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR017907|interpro:IPR032443|interpro:IPR037937|interpro:IPR043540|mint:Q99496|rcsb pdb:2H0D|rcsb pdb:3GS2|rcsb pdb:3H8H|rcsb pdb:3IXS|rcsb pdb:3RPG|rcsb pdb:4R8P|rcsb pdb:4S3O|rcsb pdb:7ND1|reactome:R-HSA-2559580|reactome:R-HSA-3108214|reactome:R-HSA-3899300|reactome:R-HSA-4551638|reactome:R-HSA-4570464|reactome:R-HSA-4655427|reactome:R-HSA-8939243|reactome:R-HSA-8943724|reactome:R-HSA-8953750 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:pqAjSEwOUdfuogKW6fodqsUSHIk9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DT28 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046356|ensembl:ENSP00000475760|ensembl:ENSP00000489386 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dt28_human(display_long)|uniprotkb:HNRNPR(gene name)|psi-mi:HNRNPR(display_short)|uniprotkb:HNRPR(gene name synonym)|uniprotkb:hCG_38907(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000125944(gene)|ensembl:ENSG00000282958(gene)|ensembl:ENST00000606561(transcript)|ensembl:ENST00000635199(transcript)|go:"GO:0003723"(RNA binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR006535(HnRNP R and Q splicing factor)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034411|interpro:IPR035979|refseq:NP_001284551.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ScxoxqdAJdVuYztblzxVvgpbCFU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q00839 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351126|uniprotkb:O75507|uniprotkb:Q8N174|uniprotkb:Q96HY9|uniprotkb:Q9BQ09|ensembl:ENSP00000491215 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hnrpu_human(display_long)|uniprotkb:HNRNPU(gene name)|psi-mi:HNRNPU(display_short)|uniprotkb:SAFA(gene name synonym)|uniprotkb:U21.1(gene name synonym)|uniprotkb:HNRPU(gene name synonym)|uniprotkb:p120(gene name synonym)|uniprotkb:pp120(gene name synonym)|uniprotkb:C1orf199(gene name synonym)|uniprotkb:GRIP120(gene name synonym)|uniprotkb:Nuclear p120 ribonucleoprotein(gene name synonym)|uniprotkb:Scaffold-attachment factor A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004492.2|refseq:NP_114032.2|ensembl:ENSG00000153187(gene)|ensembl:ENST00000640218(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000228"(nuclear chromosome)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0000776"(kinetochore)|go:"GO:0000922"(spindle pole)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000993"(RNA polymerase II complex binding)|go:"GO:0001097"(TFIIH-class transcription factor complex binding)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003677"(DNA binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003690"(double-stranded DNA binding)|go:"GO:0003697"(single-stranded DNA binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0003727"(single-stranded RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:1990498"(mitotic spindle microtubule)|go:"GO:0098577"(inactive sex chromosome)|go:"GO:0098963"(dendritic transport of messenger ribonucleoprotein complex)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|go:"GO:1990837"(sequence-specific double-stranded DNA binding)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:1990845"(adaptive thermogenesis)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000373"("positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity")|go:"GO:2000648"(positive regulation of stem cell proliferation)|go:"GO:2000737"(negative regulation of stem cell differentiation)|interpro:IPR001870("B302 (SPRY)-like")|interpro:IPR003034(DNA-binding SAP)|interpro:IPR003877(SPla/RYanodine receptor SPRY)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR026745|interpro:IPR027417|interpro:IPR035778|interpro:IPR036361|interpro:IPR043136|mint:Q00839|rcsb pdb:1ZRJ|reactome:R-HSA-72163|reactome:R-HSA-72203|go:"GO:0099122"(RNA polymerase II C-terminal domain binding)|go:"GO:1901673"(regulation of mitotic spindle assembly)|go:"GO:1902275"(regulation of chromatin organization)|go:"GO:1902425"(positive regulation of attachment of mitotic spindle microtubules to kinetochore)|go:"GO:1902889"(protein localization to spindle microtubule)|go:"GO:1990023"(mitotic spindle midzone)|go:"GO:1990280"(RNA localization to chromatin)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005697"(telomerase holoenzyme complex)|go:"GO:0005813"(centrosome)|go:"GO:0006325"(chromatin organization)|go:"GO:0006396"(RNA processing)|go:"GO:0007049"(cell cycle)|go:"GO:0007346"(regulation of mitotic cell cycle)|go:"GO:0008143"("poly(A) binding")|go:"GO:0009048"(dosage compensation by inactivation of X chromosome)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0016363"(nuclear matrix)|go:"GO:0016607"(nuclear speck)|go:"GO:0017069"(snRNA binding)|go:"GO:0017130"("poly(C) RNA binding")|go:"GO:0030496"(midbody)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0032211"(negative regulation of telomere maintenance via telomerase)|go:"GO:0032839"(dendrite cytoplasm)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033673"(negative regulation of kinase activity)|go:"GO:0034046"("poly(G) binding")|go:"GO:0034244"(negative regulation of transcription elongation from RNA polymerase II promoter)|go:"GO:0036002"(pre-mRNA binding)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042802"(identical protein binding)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048255"(mRNA stabilization)|go:"GO:0051301"(cell division)|go:"GO:0051457"(maintenance of protein location in nucleus)|go:"GO:0055013"(cardiac muscle cell development)|go:"GO:0070034"(telomerase RNA binding)|go:"GO:0070934"(CRD-mediated mRNA stabilization)|go:"GO:0070937"(CRD-mediated mRNA stability complex)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:0071385"(cellular response to glucocorticoid stimulus)|go:"GO:0072686"(mitotic spindle)|go:"GO:0090336"(positive regulation of brown fat cell differentiation)|refseq:XP_016856604.1|refseq:XP_016856605.1|refseq:XP_016856606.1|dip:DIP-684N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:n73PY0Vis+D5Iq0q77h5Ck2V4789606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61978 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-304185|intact:EBI-28971491|ensembl:ENSP00000317788|ensembl:ENSP00000353552|uniprotkb:Q07244|uniprotkb:Q15671|uniprotkb:Q59F98|uniprotkb:Q60577|uniprotkb:Q922Y7|uniprotkb:Q96J62|uniprotkb:Q5T6W4|intact:EBI-3440248|uniprotkb:Q6IBN1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hnrpk_human(display_long)|uniprotkb:HNRNPK(gene name)|psi-mi:HNRNPK(display_short)|uniprotkb:HNRPK(gene name synonym)|uniprotkb:Transformation up-regulated nuclear protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000165119(gene)|go:"GO:0010988"(regulation of low-density lipoprotein particle clearance)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0042802"(identical protein binding)|ensembl:ENST00000351839(transcript)|ensembl:ENST00000360384(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0000785"(chromatin)|go:"GO:0002102"(podosome)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005925"(focal adhesion)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006396"(RNA processing)|go:"GO:0007165"(signal transduction)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0042995"(cell projection)|go:"GO:0045296"(cadherin binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048024"(regulation of mRNA splicing, via spliceosome)|go:"GO:0048025"(negative regulation of mRNA splicing, via spliceosome)|go:"GO:0048260"(positive regulation of receptor-mediated endocytosis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1902165"(regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator)|go:"GO:1905599"(positive regulation of low-density lipoprotein receptor activity)|interpro:IPR004087(K Homology)|interpro:IPR004088(K Homology, type 1)|interpro:IPR012987(ROK, N-terminal)|interpro:IPR033090|interpro:IPR036612|mint:P61978|rcsb pdb:1J5K|rcsb pdb:1KHM|rcsb pdb:1ZZI|rcsb pdb:1ZZJ|go:"GO:0043066"(negative regulation of apoptotic process)|reactome:R-HSA-4570464|reactome:R-HSA-72163|reactome:R-HSA-72203|reactome:R-HSA-9610379|rcsb pdb:1ZZK|refseq:NP_002131.2|refseq:NP_112552.1|refseq:NP_112553.1|ensembl:ENSP00000317788|ensembl:ENSP00000353552|ensembl:ENST00000376263|ensembl:ENSP00000365439|ensembl:ENST00000376281|ensembl:ENSP00000365458|refseq:NP_001305115.1|refseq:NP_001305116.1|refseq:NP_001305117.1|refseq:XP_016870157.1|refseq:XP_005252017.1|refseq:XP_005252020.1|refseq:XP_005252022.1|dip:DIP-31805N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YZQD5JJkHPUMtZ4XUA9fQkNfXzc9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P25054 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-727707|uniprotkb:Q15162|uniprotkb:Q15163|uniprotkb:Q93042|uniprotkb:D3DT03|uniprotkb:B7Z2B6|ensembl:ENSP00000257430|ensembl:ENSP00000427089 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:apc_human(display_long)|uniprotkb:APC(gene name)|psi-mi:APC(display_short)|uniprotkb:DP2.5(gene name synonym)|uniprotkb:Deleted in polyposis 2.5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000029.2|refseq:NP_001120982.1|dip:DIP-33556N|refseq:NP_001120983.2|ensembl:ENSG00000134982(gene)|ensembl:ENST00000257430(transcript)|ensembl:ENST00000508376(transcript)|go:"GO:0000281"(mitotic cytokinesis)|go:"GO:0000776"(kinetochore)|go:"GO:0001708"(cell fate specification)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005874"(microtubule)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0007026"(negative regulation of microtubule depolymerization)|go:"GO:0007094"(mitotic spindle assembly checkpoint signaling)|go:"GO:0007155"(cell adhesion)|go:"GO:0007389"(pattern specification process)|go:"GO:0007399"(nervous system development)|go:"GO:0008013"(beta-catenin binding)|go:"GO:0008017"(microtubule binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0008286"(insulin receptor signaling pathway)|go:"GO:0010942"(positive regulation of cell death)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0016328"(lateral plasma membrane)|go:"GO:0016342"(catenin complex)|go:"GO:0016477"(cell migration)|go:"GO:0019887"(protein kinase regulator activity)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030027"(lamellipodium)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030877"(beta-catenin destruction complex)|go:"GO:0031274"(positive regulation of pseudopodium assembly)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032587"(ruffle membrane)|go:"GO:0032886"(regulation of microtubule-based process)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0045295"(gamma-catenin binding)|go:"GO:0045595"(regulation of cell differentiation)|go:"GO:0045732"(positive regulation of protein catabolic process)|go:"GO:0045736"(negative regulation of cyclin-dependent protein serine/threonine kinase activity)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051010"(microtubule plus-end binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0051988"(regulation of attachment of spindle microtubules to kinetochore)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070830"(bicellular tight junction assembly)|go:"GO:0070840"(dynein complex binding)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|go:"GO:1904781"(positive regulation of protein localization to centrosome)|go:"GO:1990909"(Wnt signalosome)|go:"GO:2000134"(negative regulation of G1/S transition of mitotic cell cycle)|interpro:IPR000225(Armadillo)|interpro:IPR009223(APC cysteine-rich)|interpro:IPR009224(SAMP)|interpro:IPR009232(EB-1 binding)|interpro:IPR009234(APC basic)|interpro:IPR009240(APC 15 residue)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR026818|interpro:IPR026831|interpro:IPR026836|interpro:IPR032038|interpro:IPR036149|interpro:IPR041257|mint:P25054|rcsb pdb:1DEB|rcsb pdb:1EMU|rcsb pdb:1JPP|rcsb pdb:1M5I|rcsb pdb:1T08|rcsb pdb:1TH1|rcsb pdb:1V18|rcsb pdb:2RQU|rcsb pdb:3AU3|rcsb pdb:3NMW|rcsb pdb:3NMX|rcsb pdb:3NMZ|rcsb pdb:3QHE|rcsb pdb:3RL7|rcsb pdb:3RL8|rcsb pdb:3T7U|rcsb pdb:4G69|rcsb pdb:4YJE|rcsb pdb:4YJL|rcsb pdb:4YK6|rcsb pdb:5B6G|rcsb pdb:5IZ6|rcsb pdb:5IZ8|rcsb pdb:5IZ9|rcsb pdb:5IZA|rcsb pdb:5Z8H|reactome:R-HSA-111465|reactome:R-HSA-195253|reactome:R-HSA-196299|reactome:R-HSA-3769402|reactome:R-HSA-4641262|reactome:R-HSA-5339716|reactome:R-HSA-5358747|reactome:R-HSA-5358749|reactome:R-HSA-5358751|reactome:R-HSA-5358752|reactome:R-HSA-5467333|reactome:R-HSA-5467337|reactome:R-HSA-5467340|reactome:R-HSA-5467348|reactome:R-HSA-5689896 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:BLZJqb4+lTr7gs2vgkXMvuwG+KU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q16576 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352227|ensembl:ENSP00000369427|intact:EBI-3505029|uniprotkb:Q5JP00 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rbbp7_human(display_long)|uniprotkb:RBBP7(gene name)|psi-mi:RBBP7(display_short)|uniprotkb:RBAP46(gene name synonym)|uniprotkb:Retinoblastoma-binding protein 7(gene name synonym)|uniprotkb:Retinoblastoma-binding protein p46(gene name synonym)|uniprotkb:Histone acetyltransferase type B subunit 2(gene name synonym)|uniprotkb:Nucleosome-remodeling factor subunit RBAP46(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002884.1|ensembl:ENST00000380087(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006260"(DNA replication)|go:"GO:0006325"(chromatin organization)|go:"GO:0016581"(NuRD complex)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0035098"("ESC/E(Z) complex")|go:"GO:0042393"(histone binding)|go:"GO:0048545"(response to steroid hormone)|go:"GO:0070370"(cellular heat acclimation)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR020472|interpro:IPR022052|interpro:IPR036322|mint:Q16576|rcsb pdb:3CFS|rcsb pdb:3CFV|rcsb pdb:7M3X|reactome:R-HSA-212300|reactome:R-HSA-2559580|reactome:R-HSA-3214815|reactome:R-HSA-3214841|reactome:R-HSA-3214847|reactome:R-HSA-3214858|reactome:R-HSA-427389|reactome:R-HSA-5617472|reactome:R-HSA-606279|reactome:R-HSA-6804758|reactome:R-HSA-73762|reactome:R-HSA-8943724|reactome:R-HSA-8951664|reactome:R-HSA-8953750|reactome:R-HSA-9609690|reactome:R-HSA-9679191|reactome:R-HSA-9710421|ensembl:ENSG00000102054(gene)|refseq:NP_001185648.1|dip:DIP-436N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qANLG0ui7jm3Uy4+IRnxR8Kir7c9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H334 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-983809|uniprotkb:Q9H332|uniprotkb:Q9H333|uniprotkb:Q9P0R1|intact:EBI-28984754|ensembl:ENSP00000318902|ensembl:ENSP00000418102|ensembl:ENSP00000419393|ensembl:ENSP00000496990|ensembl:ENSP00000497344|ensembl:ENSP00000497369|uniprotkb:A3QVP8|uniprotkb:Q9BSG9|uniprotkb:B3KV70|uniprotkb:G5E9V8|uniprotkb:Q8NAN6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:foxp1_human(display_long)|uniprotkb:FOXP1(gene name)|psi-mi:FOXP1(display_short)|uniprotkb:Mac-1-regulated forkhead(gene name synonym)|uniprotkb:HSPC215(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_006713165.1|refseq:XP_006713166.1|refseq:XP_006713167.1|go:"GO:0032655"(regulation of interleukin-12 production)|go:"GO:0032680"(regulation of tumor necrosis factor production)|go:"GO:0032651"(regulation of interleukin-1 beta production)|go:"GO:0032745"(positive regulation of interleukin-21 production)|go:"GO:0036035"(osteoclast development)|go:"GO:0042116"(macrophage activation)|go:"GO:0042117"(monocyte activation)|go:"GO:0042118"(endothelial cell activation)|go:"GO:0042802"(identical protein binding)|go:"GO:0043621"(protein self-association)|go:"GO:0045655"(regulation of monocyte differentiation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|go:"GO:0048661"(positive regulation of smooth muscle cell proliferation)|go:"GO:0050681"(androgen receptor binding)|go:"GO:0050727"(regulation of inflammatory response)|ensembl:ENSG00000114861(gene)|ensembl:ENST00000318789(transcript)|ensembl:ENST00000475937(transcript)|ensembl:ENST00000498215(transcript)|ensembl:ENST00000648380(transcript)|ensembl:ENST00000649528(transcript)|ensembl:ENST00000649631(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001046"(core promoter sequence-specific DNA binding)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0002903"(negative regulation of B cell apoptotic process)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0010595"(positive regulation of endothelial cell migration)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0030316"(osteoclast differentiation)|go:"GO:0032496"(response to lipopolysaccharide)|rcsb pdb:2KIU|reactome:R-HSA-452723|mint:Q9H334|go:"GO:0050861"(positive regulation of B cell receptor signaling pathway)|go:"GO:0060766"(negative regulation of androgen receptor signaling pathway)|go:"GO:0061470"(T follicular helper cell differentiation)|go:"GO:1900424"(regulation of defense response to bacterium)|go:"GO:1901256"(regulation of macrophage colony-stimulating factor production)|go:"GO:1901509"(regulation of endothelial tube morphogenesis)|go:"GO:1990837"(sequence-specific double-stranded DNA binding)|go:"GO:2000341"("regulation of chemokine (C-X-C motif) ligand 2 production")|interpro:IPR001766(Fork head transcription factor)|interpro:IPR030456|interpro:IPR032354|interpro:IPR036388|interpro:IPR036390|refseq:XP_011531886.1|refseq:XP_011531887.1|refseq:NP_116071.2|refseq:NP_001231743.1|refseq:NP_001231745.1|refseq:NP_001231744.1|refseq:NP_001012523.1|ensembl:ENST00000318779|ensembl:ENSP00000318721|ensembl:ENSP00000318902|ensembl:ENSP00000419393|ensembl:ENST00000484350|ensembl:ENSP00000417857|ensembl:ENST00000493089|ensembl:ENSP00000418524|ensembl:ENSP00000418102|ensembl:ENST00000615603|ensembl:ENSP00000484803|ensembl:ENST00000622151|ensembl:ENSP00000477918|ensembl:ENST00000648107|ensembl:ENSP00000497914|ensembl:ENSP00000497344|ensembl:ENST00000648426|ensembl:ENSP00000498110|ensembl:ENST00000648662|ensembl:ENSP00000496873|ensembl:ENST00000648718|ensembl:ENSP00000496810|ensembl:ENSP00000497369|ensembl:ENSP00000496990|ensembl:ENST00000674446|ensembl:ENSP00000501439|dip:DIP-36585N|refseq:XP_016861654.1|refseq:XP_016861655.1|refseq:XP_016861657.1|refseq:NP_001231741.1|refseq:NP_001231737.1|refseq:NP_001231739.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:NREo12e1TLPfsul6Ie0l62NqIa89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q32MZ4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1369100|uniprotkb:O75766|uniprotkb:O75799|uniprotkb:Q32MZ5|uniprotkb:Q53T49|uniprotkb:Q6PKG2|uniprotkb:E9PGZ2|uniprotkb:Q9Y607|intact:EBI-28987401|ensembl:ENSP00000375857 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lrrf1_human(display_long)|uniprotkb:LRRFIP1(gene name)|psi-mi:LRRFIP1(display_short)|uniprotkb:GCF2(gene name synonym)|uniprotkb:TRIP(gene name synonym)|uniprotkb:TAR RNA-interacting protein(gene name synonym)|uniprotkb:GC-binding factor 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001131024.1|refseq:NP_001131025.1|refseq:NP_004726.2|ensembl:ENST00000244815|ensembl:ENSP00000244815|ensembl:ENST00000289175|ensembl:ENSP00000289175|ensembl:ENST00000308482|ensembl:ENSP00000310109|ensembl:ENSP00000375857|refseq:NP_001131022.1|ensembl:ENSG00000124831(gene)|ensembl:ENST00000392000(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003677"(DNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0045296"(cadherin binding)|interpro:IPR019139|mint:Q32MZ4|rcsb pdb:4H22|reactome:R-HSA-1839117|reactome:R-HSA-3134973|reactome:R-HSA-5655302 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GRBGUu5k+BNhFDb4Z2B2XkQ0mcQ9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62304 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-348082|ensembl:ENSP00000400591|uniprotkb:P08578|uniprotkb:Q15498|uniprotkb:Q5BKT2|uniprotkb:B2R5B9 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ruxe_human(display_long)|uniprotkb:SNRPE(gene name)|psi-mi:SNRPE(display_short)|uniprotkb:Sm protein E(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000182004(gene)|ensembl:ENST00000414487(transcript)|go:"GO:0000245"(spliceosomal complex assembly)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005682"(U5 snRNP)|go:"GO:0005683"(U7 snRNP)|go:"GO:0005685"(U1 snRNP)|go:"GO:0005686"(U2 snRNP)|go:"GO:0005687"(U4 snRNP)|go:"GO:0005689"(U12-type spliceosomal complex)|go:"GO:0005697"(telomerase holoenzyme complex)|go:"GO:0005829"(cytosol)|go:"GO:0030532"(small nuclear ribonucleoprotein complex)|go:"GO:0034709"(methylosome)|go:"GO:0034715"(pICln-Sm protein complex)|go:"GO:0034719"(SMN-Sm protein complex)|go:"GO:0042633"(hair cycle)|go:"GO:0046540"(U4/U6 x U5 tri-snRNP complex)|go:"GO:0071005"(U2-type precatalytic spliceosome)|go:"GO:0071007"(U2-type catalytic step 2 spliceosome)|go:"GO:0071011"(precatalytic spliceosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|interpro:IPR001163(Like-Sm ribonucleoprotein, core)|interpro:IPR010920(Like-Sm ribonucleoprotein-related, core)|interpro:IPR027078|mint:P62304|rcsb pdb:3CW1|rcsb pdb:3JCR|rcsb pdb:3PGW|rcsb pdb:4F7U|rcsb pdb:4PJO|rcsb pdb:4V98|rcsb pdb:4WZJ|rcsb pdb:5MQF|rcsb pdb:5O9Z|rcsb pdb:5XJC|rcsb pdb:5XJL|rcsb pdb:5XJQ|rcsb pdb:5XJR|rcsb pdb:5XJS|rcsb pdb:5XJT|rcsb pdb:5XJU|rcsb pdb:5YZG|rcsb pdb:5Z56|rcsb pdb:5Z57|rcsb pdb:5Z58|rcsb pdb:6AH0|rcsb pdb:6FF7|rcsb pdb:6ICZ|rcsb pdb:6ID0|rcsb pdb:6ID1|rcsb pdb:6QDV|rcsb pdb:6QW6|rcsb pdb:6QX9|rcsb pdb:6V4X|rcsb pdb:6Y53|rcsb pdb:6Y5Q|rcsb pdb:7A5P|rcsb pdb:7ABG|rcsb pdb:7ABI|rcsb pdb:7B0Y|rcsb pdb:7DVQ|reactome:R-HSA-111367|reactome:R-HSA-191859|reactome:R-HSA-72163|reactome:R-HSA-72165|reactome:R-HSA-73856|reactome:R-HSA-77588|refseq:NP_003085.1|refseq:NP_001291393.1|refseq:NP_001315566.1|refseq:NP_001315567.1|dip:DIP-31220N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:QZ2/v8M+4+8AfWLPYNQO81/IeN09606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5W0B1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2562035|uniprotkb:Q9H8M0|uniprotkb:B2RN99|uniprotkb:Q9H0T2|uniprotkb:Q8TBY2|ensembl:ENSP00000282003 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:obi1_human(display_long)|uniprotkb:OBI1(gene name)|psi-mi:OBI1(display_short)|uniprotkb:C13orf7(gene name synonym)|uniprotkb:RING finger protein 219(gene name synonym)|uniprotkb:RNF219(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_078822.3|ensembl:ENSG00000152193(gene)|ensembl:ENST00000282003(transcript)|go:"GO:0000785"(chromatin)|go:"GO:0003682"(chromatin binding)|go:"GO:0004842"(ubiquitin-protein transferase activity)|go:"GO:0006275"(regulation of DNA replication)|go:"GO:0006513"(protein monoubiquitination)|go:"GO:0046872"(metal ion binding)|go:"GO:0051865"(protein autoubiquitination)|interpro:IPR001841(Zinc finger, RING-type)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR035691|interpro:IPR039209|mint:Q5W0B1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:MCzyMLZ+OMynQerFlsiwIHPRc0M9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13501 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-307104|uniprotkb:Q13446|uniprotkb:Q9BUV7|uniprotkb:Q9BVS6|uniprotkb:Q9UEU1|uniprotkb:A6NFN7|uniprotkb:B2R661|uniprotkb:B3KUW5|intact:EBI-28976133|ensembl:ENSP00000374455 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sqstm_human(display_long)|uniprotkb:SQSTM1(gene name)|psi-mi:SQSTM1(display_short)|uniprotkb:ORCA(gene name synonym)|uniprotkb:OSIL(gene name synonym)|uniprotkb:Phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa(gene name synonym)|uniprotkb:Ubiquitin-binding protein p62(gene name synonym)|uniprotkb:EBI3-associated protein of 60 kDa(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000360718|ensembl:ENSP00000353944|ensembl:ENSP00000374455|ensembl:ENSG00000161011(gene)|ensembl:ENST00000389805(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000407"(phagophore assembly site)|go:"GO:0000422"(autophagy of mitochondrion)|go:"GO:0000423"(mitophagy)|go:"GO:0000932"(P-body)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0002376"(immune system process)|go:"GO:0002931"(response to ischemia)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005770"(late endosome)|go:"GO:0005776"(autophagosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006511"(ubiquitin-dependent protein catabolic process)|go:"GO:0006914"(autophagy)|go:"GO:0006915"(apoptotic process)|go:"GO:0007032"(endosome organization)|go:"GO:0008104"(protein localization)|go:"GO:0008270"(zinc ion binding)|go:"GO:0010821"(regulation of mitochondrion organization)|go:"GO:0016197"(endosomal transport)|go:"GO:0016234"(inclusion body)|go:"GO:0016235"(aggresome)|go:"GO:0016236"(macroautophagy)|go:"GO:0016605"(PML body)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030017"(sarcomere)|go:"GO:0030154"(cell differentiation)|go:"GO:0030971"(receptor tyrosine kinase binding)|go:"GO:0031397"(negative regulation of protein ubiquitination)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0035255"(ionotropic glutamate receptor binding)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0035973"(aggrephagy)|go:"GO:0042169"(SH2 domain binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043122"(regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046578"(regulation of Ras protein signal transduction)|go:"GO:0061635"(regulation of protein complex stability)|go:"GO:0061912"(selective autophagy)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070530"(K63-linked polyubiquitin modification-dependent protein binding)|go:"GO:0097225"(sperm midpiece)|go:"GO:0097413"(Lewy body)|go:"GO:0098780"(response to mitochondrial depolarisation)|go:"GO:1900273"(positive regulation of long-term synaptic potentiation)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|go:"GO:1905719"(protein localization to perinuclear region of cytoplasm)|interpro:IPR000270(Octicosapeptide/Phox/Bem1p)|interpro:IPR000433(Zinc finger, ZZ-type)|interpro:IPR009060(UBA-like)|go:"GO:0043130"(ubiquitin binding)|interpro:IPR015940(Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote)|go:"GO:0043231"(intracellular membrane-bounded organelle)|interpro:IPR033741|go:"GO:0044753"(amphisome)|interpro:IPR034866|interpro:IPR043145|mint:Q13501|rcsb pdb:1Q02|rcsb pdb:2JY7|rcsb pdb:2JY8|rcsb pdb:2K0B|rcsb pdb:2KNV|go:"GO:0044754"(autolysosome)|rcsb pdb:4MJS|rcsb pdb:4UF8|rcsb pdb:4UF9|go:"GO:0044877"(protein-containing complex binding)|rcsb pdb:5YP7|rcsb pdb:5YP8|rcsb pdb:5YPA|rcsb pdb:5YPB|rcsb pdb:5YPC|rcsb pdb:5YPE|rcsb pdb:5YPF|rcsb pdb:5YPG|rcsb pdb:5YPH|rcsb pdb:6JM4|rcsb pdb:6KHZ|rcsb pdb:6MJ7|rcsb pdb:6TGY|rcsb pdb:6TH3|reactome:R-HSA-205043|reactome:R-HSA-209543|reactome:R-HSA-209560|reactome:R-HSA-5205685|reactome:R-HSA-9020702|reactome:R-HSA-9664873|refseq:NP_001135770.1|refseq:NP_001135771.1|refseq:NP_003891.1|dip:DIP-34443N|refseq:XP_016865499.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:paIcBLmyiv1+D9QMym5MY3yc8MI9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8NDX5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1223801|uniprotkb:Q5HYF0|uniprotkb:Q6NSG2|uniprotkb:Q8NFT7|uniprotkb:Q8NFZ1|uniprotkb:Q8TBM2|uniprotkb:Q9H971|uniprotkb:Q9H9I4|uniprotkb:A2RRP9|ensembl:ENSP00000420271 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:phc3_human(display_long)|uniprotkb:PHC3(gene name)|psi-mi:PHC3(display_short)|uniprotkb:EDR3(gene name synonym)|uniprotkb:PH3(gene name synonym)|uniprotkb:Homolog of polyhomeotic 3(gene name synonym)|uniprotkb:Early development regulatory protein 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_079223.3|refseq:NP_001295045.1|ensembl:ENSP00000420271|ensembl:ENST00000495893|ensembl:ENSP00000420294|ensembl:ENST00000497658|ensembl:ENSP00000420454|ensembl:ENSG00000173889(gene)|ensembl:ENST00000494943(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0008270"(zinc ion binding)|go:"GO:0031519"(PcG protein complex)|go:"GO:0035102"(PRC1 complex)|go:"GO:0042393"(histone binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|interpro:IPR001660(Sterile alpha motif SAM)|interpro:IPR012313(Zinc finger, FCS-type)|interpro:IPR013761(Sterile alpha motif-type)|interpro:IPR038603|mint:Q8NDX5|rcsb pdb:4PZN|rcsb pdb:4PZO|reactome:R-HSA-2559580|reactome:R-HSA-3108214|reactome:R-HSA-3899300|reactome:R-HSA-4551638|reactome:R-HSA-4570464|reactome:R-HSA-4655427|reactome:R-HSA-8939243|reactome:R-HSA-8943724|reactome:R-HSA-8953750 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:hB1EMs+lCv19uuJ1O7+QiVCUoo89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P13645 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-465144|ensembl:ENSP00000269576|uniprotkb:Q14664|uniprotkb:Q8N175 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k1c10_human(display_long)|uniprotkb:KRT10(gene name)|psi-mi:KRT10(display_short)|uniprotkb:Cytokeratin-10(gene name synonym)|uniprotkb:KPP(gene name synonym)|uniprotkb:Keratin-10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000186395(gene)|ensembl:ENST00000269576(transcript)|go:"GO:0001533"(cornified envelope)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005882"(intermediate filament)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0018149"(peptide cross-linking)|go:"GO:0030216"(keratinocyte differentiation)|go:"GO:0030280"(structural constituent of skin epidermis)|go:"GO:0045684"(positive regulation of epidermis development)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0051290"(protein heterotetramerization)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002957(Keratin, type I)|interpro:IPR018039|interpro:IPR039008|mint:P13645|rcsb pdb:3ASW|rcsb pdb:4F1Z|rcsb pdb:4ZRY|rcsb pdb:6E2J|rcsb pdb:6EC0|rcsb pdb:6UUI|reactome:R-HSA-6805567|reactome:R-HSA-6809371|refseq:NP_000412.3 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:z100yyq3b63P0ARy2lE2ELyJeik9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P84103 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-372557|uniprotkb:P23152|uniprotkb:O08831|uniprotkb:B4E241|intact:EBI-11020748|uniprotkb:Q5R3K0|ensembl:ENSP00000362820|ensembl:ENSP00000482833 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:srsf3_human(display_long)|uniprotkb:Pre-mRNA-splicing factor SRP20(gene name synonym)|uniprotkb:SRSF3(gene name)|psi-mi:SRSF3(display_short)|uniprotkb:SRP20(gene name synonym)|uniprotkb:SFRS3(gene name synonym)|uniprotkb:Splicing factor, arginine/serine-rich 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003008.1|ensembl:ENSG00000112081(gene)|ensembl:ENST00000373715(transcript)|ensembl:ENST00000620941(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0006406"(mRNA export from nucleus)|go:"GO:0016607"(nuclear speck)|go:"GO:0043274"(phospholipase binding)|go:"GO:0048024"(regulation of mRNA splicing, via spliceosome)|go:"GO:1990825"(sequence-specific mRNA binding)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979|mint:P84103|rcsb pdb:2I2Y|rcsb pdb:2I38|reactome:R-HSA-159236|reactome:R-HSA-72163|reactome:R-HSA-72187|reactome:R-HSA-73856|dip:DIP-32961N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:BcfyCj2cNNTH1igANKpvh4IHDVU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P57678 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356700|uniprotkb:Q9NZS7|uniprotkb:Q9UG32|uniprotkb:Q9Y4Q2|intact:EBI-1058464|ensembl:ENSP00000321706 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gemi4_human(display_long)|uniprotkb:GEMIN4(gene name)|psi-mi:GEMIN4(display_short)|uniprotkb:Component of gems 4(gene name synonym)|uniprotkb:p97(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_056536.2|ensembl:ENSG00000179409(gene)|ensembl:ENST00000319004(transcript)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006364"(rRNA processing)|go:"GO:0015030"(Cajal body)|go:"GO:0016020"(membrane)|go:"GO:0016604"(nuclear body)|go:"GO:0030532"(small nuclear ribonucleoprotein complex)|go:"GO:0032797"(SMN complex)|go:"GO:0034719"(SMN-Sm protein complex)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097504"(Gemini of coiled bodies)|interpro:IPR033265|mint:P57678|reactome:R-HSA-191859 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PeyFnc2VuUrZrCj8RtkVVS6KQF49606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q3KQU3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-713229|uniprotkb:Q9HBQ2|uniprotkb:Q8N905|uniprotkb:Q9ULN3|uniprotkb:Q7L8J5|uniprotkb:Q8TAK0|intact:EBI-2511981|intact:EBI-1056140|ensembl:ENSP00000362244|uniprotkb:Q9NW29|uniprotkb:D3DPS4 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ma7d1_human(display_long)|uniprotkb:MAP7D1(gene name)|psi-mi:MAP7D1(display_short)|uniprotkb:KIAA1187(gene name synonym)|uniprotkb:PARCC1(gene name synonym)|uniprotkb:RPRC1(gene name synonym)|uniprotkb:Proline/arginine-rich coiled-coil domain-containing protein 1(gene name synonym)|uniprotkb:Arginine/proline-rich coiled-coil domain-containing protein 1(gene name synonym)|uniprotkb:PP2464(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001273294.1|refseq:NP_001273295.1|ensembl:ENSG00000116871(gene)|ensembl:ENST00000373151(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0005819"(spindle)|go:"GO:0005829"(cytosol)|go:"GO:0015630"(microtubule cytoskeleton)|interpro:IPR008604(E-MAP-115)|mint:Q3KQU3|refseq:NP_060537.3 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:AEal3/uaJsdRBdmijI8nuthBD9k9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y608 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1023718|uniprotkb:Q68CV3|uniprotkb:Q9NXH5|uniprotkb:A8K649|uniprotkb:A8MXR0|uniprotkb:B4DY63|ensembl:ENSP00000338727 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lrrf2_human(display_long)|uniprotkb:LRRFIP2(gene name)|psi-mi:LRRFIP2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001127841.1|refseq:NP_006300.1|refseq:NP_060194.1|refseq:XP_011532519.1|refseq:XP_011532520.1|refseq:XP_011532521.1|refseq:NP_001269620.1|ensembl:ENSG00000093167(gene)|ensembl:ENST00000336686(transcript)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0030275"(LRR domain binding)|interpro:IPR019139|mint:Q9Y608|refseq:XP_005265596.1|refseq:XP_005265597.1|refseq:XP_016862973.1|refseq:NP_001335239.1|refseq:NP_001335240.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ma/crL7UY91uJ8bqLfkX3K8aQLI9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NY12 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2510382|ensembl:ENSP00000226796|ensembl:ENSP00000378127|uniprotkb:Q5MJQ2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gar1_human(display_long)|uniprotkb:GAR1(gene name)|psi-mi:GAR1(display_short)|uniprotkb:NOLA1(gene name synonym)|uniprotkb:snoRNP protein GAR1(gene name synonym)|uniprotkb:Nucleolar protein family A member 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000109534(gene)|ensembl:ENST00000226796(transcript)|ensembl:ENST00000394631(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005697"(telomerase holoenzyme complex)|go:"GO:0007004"(telomere maintenance via telomerase)|go:"GO:0031429"(box H/ACA snoRNP complex)|go:"GO:0034513"(box H/ACA snoRNA binding)|go:"GO:0070034"(telomerase RNA binding)|go:"GO:0072589"(box H/ACA scaRNP complex)|go:"GO:0090661"(box H/ACA telomerase RNP complex)|interpro:IPR007504(Gar1 protein RNA-binding region)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR038664|mint:Q9NY12|rcsb pdb:7BGB|reactome:R-HSA-171319|go:"GO:0000454"(snoRNA guided rRNA pseudouridine synthesis)|reactome:R-HSA-6790901|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0001650"(fibrillar center)|go:"GO:0003723"(RNA binding)|refseq:NP_061856.1|refseq:NP_127460.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:voLJvYfWyMWtTf0VSd7XeY3psC09606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KTE4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044197|ensembl:ENSP00000462938|ensembl:ENSP00000464538 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3kte4_human(display_long)|uniprotkb:RPL19(gene name)|psi-mi:RPL19(display_short)|uniprotkb:hCG_31402(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000108298(gene)|ensembl:ENST00000579260(transcript)|ensembl:ENST00000582193(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|interpro:IPR000196(Ribosomal protein L19/L19e)|interpro:IPR015972(Ribosomal protein L19/L19e, domain 1)|interpro:IPR023638|interpro:IPR033935|interpro:IPR035970|interpro:IPR039547|refseq:NP_001317129.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dWWvlwafnDx2VZf33AQNK2OYgZ89606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8WWI1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350367|uniprotkb:O15462|uniprotkb:O95346|uniprotkb:Q9UKC1|uniprotkb:Q9UQM5|uniprotkb:Q9Y6A7|uniprotkb:Q5TBK6|uniprotkb:E9PLH4 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lmo7_human(display_long)|uniprotkb:LMO7(gene name)|psi-mi:LMO7(display_short)|uniprotkb:FBX20(gene name synonym)|uniprotkb:FBXO20(gene name synonym)|uniprotkb:KIAA0858(gene name synonym)|uniprotkb:F-box only protein 20(gene name synonym)|uniprotkb:LOMP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005349.3|refseq:NP_056667.2|refseq:NP_001293009.1|go:"GO:0004842"(ubiquitin-protein transferase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0009986"(cell surface)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0023051"(regulation of signaling)|go:"GO:0030155"(regulation of cell adhesion)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR001715(Calponin-like actin-binding)|go:"GO:0000151"(ubiquitin ligase complex)|interpro:IPR001781(Zinc finger, LIM-type)|interpro:IPR003096(SM22/calponin)|interpro:IPR029978|interpro:IPR031865|interpro:IPR036034|interpro:IPR036872|rcsb pdb:2EAQ|reactome:R-HSA-8951664|reactome:R-HSA-983168|ensembl:ENST00000341547|ensembl:ENSP00000342112|ensembl:ENSG00000136153|refseq:NP_001317512.1|mint:Q8WWI1|dip:DIP-33107N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:d8c3oZaqaloIUBqxgvpNI3PP2fU9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P52597 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352986|ensembl:ENSP00000338477|ensembl:ENSP00000349573|ensembl:ENSP00000400433|ensembl:ENSP00000438061|ensembl:ENSP00000507787|ensembl:ENSP00000348345|uniprotkb:Q5T0N2|uniprotkb:Q96AU2|uniprotkb:B3KM84 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hnrpf_human(display_long)|uniprotkb:HNRNPF(gene name)|psi-mi:HNRNPF(display_short)|uniprotkb:HNRPF(gene name synonym)|uniprotkb:Nucleolin-like protein mcs94-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR012996(Zinc finger, CHHC-type)|interpro:IPR035979|mint:P52597|rcsb pdb:2HGL|rcsb pdb:2HGM|rcsb pdb:2HGN|rcsb pdb:2KFY|rcsb pdb:2KG0|rcsb pdb:2KG1|rcsb pdb:3TFY|reactome:R-HSA-6803529|reactome:R-HSA-72163|reactome:R-HSA-72203|reactome:R-HSA-8950505|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|ensembl:ENSG00000169813(gene)|ensembl:ENST00000337970(transcript)|ensembl:ENST00000356053(transcript)|ensembl:ENST00000357065(transcript)|ensembl:ENST00000443950(transcript)|ensembl:ENST00000544000(transcript)|ensembl:ENST00000682386(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0003727"(single-stranded RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006396"(RNA processing)|go:"GO:0016020"(membrane)|go:"GO:0043484"(regulation of RNA splicing)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|refseq:NP_001091674.1|refseq:NP_001091675.1|refseq:NP_001091676.1|refseq:NP_001091677.1|refseq:NP_001091678.1|refseq:NP_004957.1|dip:DIP-33145N intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:pblzpldZOa5vlZ+zGQY9qyWCxaw9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P39019 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354451|ensembl:ENSP00000469228|ensembl:ENSP00000470004|ensembl:ENSP00000470972 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs19_human(display_long)|uniprotkb:RPS19(gene name)|psi-mi:RPS19(display_short)|uniprotkb:Small ribosomal subunit protein eS19(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001013.1|ensembl:ENSG00000105372(gene)|ensembl:ENST00000593863(transcript)|ensembl:ENST00000598742(transcript)|go:"GO:0000028"(ribosomal small subunit assembly)|go:"GO:0000462"("maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0002548"(monocyte chemotaxis)|go:"GO:0003723"(RNA binding)|ensembl:ENST00000600467(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0007000"(nucleolus organization)|go:"GO:0009991"(response to extracellular stimulus)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0017134"(fibroblast growth factor binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0030490"(maturation of SSU-rRNA)|go:"GO:0031640"(killing of cells of another organism)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042802"(identical protein binding)|go:"GO:0050829"(defense response to Gram-negative bacterium)|go:"GO:0051272"(positive regulation of cellular component movement)|go:"GO:0060265"(positive regulation of respiratory burst involved in inflammatory response)|go:"GO:0060266"(negative regulation of respiratory burst involved in inflammatory response)|go:"GO:0061844"(antimicrobial humoral immune response mediated by antimicrobial peptide)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001266(Ribosomal protein S19e)|interpro:IPR018277|interpro:IPR036388|interpro:IPR036390|mint:P39019|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_001308412.1|refseq:NP_001308413.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3YqdJJJG+2nqoBf3PLu1fs7pVkY9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15942 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-444225|ensembl:ENSP00000324422|ensembl:ENSP00000494798|uniprotkb:Q6I9S4|uniprotkb:A4D2G6|uniprotkb:B4DQX7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zyx_human(display_long)|uniprotkb:Zyxin-2(gene name synonym)|uniprotkb:ZYX(gene name)|psi-mi:ZYX(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27046166|imex:IM-29110-5 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000159840(gene)|ensembl:ENSG00000285443(gene)|ensembl:ENST00000322764(transcript)|ensembl:ENST00000646695(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007165"(signal transduction)|go:"GO:0007179"(transforming growth factor beta receptor signaling pathway)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0007267"(cell-cell signaling)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0046872"(metal ion binding)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0071346"(cellular response to interferon-gamma)|interpro:IPR001781(Zinc finger, LIM-type)|go:"GO:0043149"(stress fiber assembly)|refseq:NP_001010972.1|refseq:NP_003452.1 intact:EBI-27047305(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and this association is from Proteomics II list of participants|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/26 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4UC6NVZHDUrTy4sPhz7e7RpPwho9606 rigid:CUyaRNMyBeADctpVZ1scz6ZN5Bk false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B7Z4B8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-8011958|intact:MINT-8395033|ensembl:ENSP00000263367 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b7z4b8_human(display_long)|uniprotkb:HNRNPUL1(gene name)|psi-mi:HNRNPUL1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001287945.1|ensembl:ENSG00000105323(gene)|ensembl:ENST00000263367(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006396"(RNA processing)|go:"GO:0009615"(response to virus)|interpro:IPR001870("B302 (SPRY)-like")|interpro:IPR003877(SPla/RYanodine receptor SPRY)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR027025|interpro:IPR027417|interpro:IPR035778|interpro:IPR043136 intact:EBI-27046166(see-also) - comment:mint|comment:homomint figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5XNBChW9wYivxUDk8GIEkJAgK5g9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EW20 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11324728|ensembl:ENSP00000358998 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7ew20_human(display_long)|uniprotkb:MYO6(gene name)|psi-mi:MYO6(display_short)|uniprotkb:Unconventional myosin-VI(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000196586(gene)|ensembl:ENST00000369981(transcript)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0005902"(microvillus)|go:"GO:0030175"(filopodium)|go:"GO:0032587"(ruffle membrane)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051015"(actin filament binding)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR008989(Myosin S1 fragment, N-terminal)|interpro:IPR027417|interpro:IPR032412|interpro:IPR036114|interpro:IPR036961|go:"GO:0005905"(clathrin-coated pit)|go:"GO:0006897"(endocytosis)|go:"GO:0007605"(sensory perception of sound)|go:"GO:0015031"(protein transport)|go:"GO:0016459"(myosin complex)|go:"GO:0030136"(clathrin-coated vesicle) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fDuAUFquqQVooM4D49G3c1ByyNs9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E5RH77 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-8011822|intact:MINT-8395059|ensembl:ENSP00000429856 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e5rh77_human(display_long)|uniprotkb:RPS14(gene name)|psi-mi:RPS14(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000164587(gene)|ensembl:ENST00000518139(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001971(Ribosomal protein S11)|interpro:IPR036967 intact:EBI-27046166(see-also) - comment:mint|comment:homomint figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:DmPsXRfEYnNjdlzq/0oOfzV2CsU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15061 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-7843148|intact:EBI-28977600|ensembl:ENSP00000336775|intact:MINT-198289|uniprotkb:Q2TBJ4|uniprotkb:Q5NJJ9|uniprotkb:Q8TE62|uniprotkb:A7E2Y2|uniprotkb:Q8TE61 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:synem_human(display_long)|uniprotkb:KIAA0353(gene name synonym)|uniprotkb:DMN(gene name synonym)|uniprotkb:SYN(gene name synonym)|uniprotkb:Desmuslin(gene name synonym)|uniprotkb:SYNM(gene name)|psi-mi:SYNM(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000336775|ensembl:ENSG00000182253(gene)|ensembl:ENST00000336292(transcript)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005882"(intermediate filament)|go:"GO:0005912"(adherens junction)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0017166"(vinculin binding)|go:"GO:0019215"(intermediate filament binding)|go:"GO:0031443"(fast-twitch skeletal muscle fiber contraction)|go:"GO:0042383"(sarcolemma)|go:"GO:0043034"(costamere)|go:"GO:0045104"(intermediate filament cytoskeleton organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0060053"(neurofilament cytoskeleton)|interpro:IPR018039|interpro:IPR030634|interpro:IPR039008|rcsb pdb:6EWO|refseq:NP_056101.5|refseq:NP_663780.2 intact:EBI-27046166(see-also) - comment:mint|function:"Desmuslin is a type-VI intermediate filament which may function as a mechanical support to the muscle fibers by making a linkage between the extracellular matrix via the dystrophin-associated protein complex (DAPC) and the Z-disk" figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rzVhqnzGeDs2F13p1f2TSKoradM9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9J9K3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-8011875|intact:MINT-8395011|ensembl:ENSP00000410848 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9j9k3_human(display_long)|uniprotkb:RPSA(gene name)|psi-mi:RPSA(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000168028(gene)|ensembl:ENST00000458478(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005737"(cytoplasm)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|interpro:IPR001865(Ribosomal protein S2)|interpro:IPR005707(Ribosomal protein S2, eukaryotic/archaeal)|interpro:IPR018130|interpro:IPR023591|interpro:IPR027498|interpro:IPR032281 intact:EBI-27046166(see-also) - comment:mint|comment:homomint figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:slFqShCmEHqqyQj4TKTsI7Vum3s9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8N3X6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-7138654|ensembl:ENSP00000371661|uniprotkb:Q96NK1|intact:MINT-8247449 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lcorl_human(display_long)|uniprotkb:LCORL(gene name)|psi-mi:LCORL(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000178177(gene)|ensembl:ENST00000382226(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:1990226"(histone methyltransferase binding)|interpro:IPR007889(Helix-turn-helix, Psq)|interpro:IPR009057(Homeodomain-like)|mint:Q8N3X6|refseq:NP_001159611.1|refseq:NP_710153.2 intact:EBI-27046166(see-also) - comment:mint|comment:homomint figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:SdBCrM1WJt4MBqkxpIqhIbfWHjM9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E5RIT6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25604968|ensembl:ENSP00000430673 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e5rit6_human(display_long)|uniprotkb:RPL26L1(gene name)|psi-mi:RPL26L1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000037241(gene)|ensembl:ENST00000519156(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0006412"(translation)|go:"GO:0015934"(large ribosomal subunit)|interpro:IPR005756(Ribosomal protein L26, eukaryotic/archaeal)|interpro:IPR005824(KOW)|interpro:IPR005825(Ribosomal protein L24/L26, conserved site)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR041988 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:l7D7FV/gLFns4PgJA/QkJdZdIWY9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:K7EKZ0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27047457|ensembl:ENSP00000465843 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k7ekz0_human(display_long)|uniprotkb:FHOD3(gene name)|psi-mi:FHOD3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000134775(gene)|ensembl:ENST00000585579(transcript)|interpro:IPR015425(Actin-binding FH2)|interpro:IPR042201 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:25nK7udB88XKSvQa0b/c3mJmSng9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:D6RD46 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27047439|ensembl:ENSP00000427045 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:d6rd46_human(display_long)|uniprotkb:LIMCH1(gene name)|psi-mi:LIMCH1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000064042(gene)|ensembl:ENST00000512632(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0046872"(metal ion binding)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR001781(Zinc finger, LIM-type)|interpro:IPR001997(Calponin)|interpro:IPR003096(SM22/calponin)|interpro:IPR029980|interpro:IPR031865|interpro:IPR036872|refseq:NP_001317713.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:c5fMAzjAxU1ao1nJEFjxrreqo0I9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PHV5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27045688|ensembl:ENSP00000387319 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9phv5_human(display_long)|uniprotkb:ITPRID2(gene name)|psi-mi:ITPRID2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138434(gene)|ensembl:ENST00000409001(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|interpro:IPR026648|interpro:IPR029325|interpro:IPR029326|interpro:IPR043444|refseq:NP_001274432.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qyzjWH7EO93qsYvJ7pgYR+NRNjA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A0A2K5TZA9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27047412|ensembl:ENSMFAP00000005434 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a0a2k5tza9_macfa(display_long)|uniprotkb:SMARCA1(gene name)|psi-mi:SMARCA1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9541(macfa)|taxid:9541("Macaca fascicularis (Crab-eating macaque)") psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSMFAG00000002117(gene)|ensembl:ENSMFAT00000024111(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0016787"(hydrolase activity)|go:"GO:0031491"(nucleosome binding)|go:"GO:0043044"|go:"GO:0070615"|interpro:IPR000330(SNF2-related)|interpro:IPR001005(SANT, DNA-binding)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR009057(Homeodomain-like)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR015194(Nucleosome remodelling ATPase ISWI, HAND)|interpro:IPR015195(SLIDE)|interpro:IPR017884|interpro:IPR020838|interpro:IPR027417|interpro:IPR036306|interpro:IPR038718|interpro:IPR044755 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:INqPLWXxtHh4qZkLr9qbwX9YL0o9541 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P84243 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-120658|uniprotkb:P06351|uniprotkb:P33155|uniprotkb:Q5VV55|uniprotkb:Q5VV56|uniprotkb:Q66I33|uniprotkb:Q9V3W4|ensembl:ENSP00000254810|ensembl:ENSP00000355778|ensembl:ENSP00000355780|ensembl:ENSP00000355781|ensembl:ENSP00000465813|ensembl:ENSP00000466020|ensembl:ENSP00000468714|ensembl:ENSP00000499275|ensembl:ENSP00000499385|ensembl:ENSP00000499800 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h33_human(display_long)|uniprotkb:H3-3A(gene name)|psi-mi:H3-3A(display_short)|uniprotkb:H3-3B(gene name)|psi-mi:H3-3B(display_short)|uniprotkb:H3.3A(gene name synonym)|uniprotkb:H3.3B(gene name synonym)|uniprotkb:H3F3(gene name synonym)|uniprotkb:H3F3A(gene name synonym)|uniprotkb:H3F3B(gene name synonym)|uniprotkb:PP781(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002098.1|refseq:NP_005315.1|rcsb pdb:4H9N|rcsb pdb:3QL9|rcsb pdb:4H9O|rcsb pdb:4H9P|rcsb pdb:4H9Q|rcsb pdb:3QLA|rcsb pdb:3QLC|rcsb pdb:4H9R|rcsb pdb:4H9S|rcsb pdb:4HGA|rcsb pdb:4L58|rcsb pdb:4N4I|rcsb pdb:3WTP|rcsb pdb:4O62|rcsb pdb:4QQ4|rcsb pdb:4TMP|rcsb pdb:4GNE|rcsb pdb:4GNF|rcsb pdb:4U7T|rcsb pdb:4GNG|rcsb pdb:4W5A|rcsb pdb:4GU0|rcsb pdb:4GUR|rcsb pdb:5B32|rcsb pdb:5B33|rcsb pdb:5BNV|rcsb pdb:5BNX|rcsb pdb:4GUS|rcsb pdb:4GY5|rcsb pdb:5DWQ|rcsb pdb:5DX0|rcsb pdb:5JA4|rcsb pdb:5JJY|ensembl:ENSG00000132475(gene)|ensembl:ENSG00000163041(gene)|rcsb pdb:5JLB|rcsb pdb:5KDM|rcsb pdb:5X7X|rcsb pdb:6A5L|rcsb pdb:6A5O|rcsb pdb:6A5P|rcsb pdb:6A5R|rcsb pdb:6A5T|rcsb pdb:6A5U|rcsb pdb:6HGT|rcsb pdb:6INQ|rcsb pdb:6IR9|rcsb pdb:6J4W|rcsb pdb:6J4X|rcsb pdb:6J4Y|rcsb pdb:6J4Z|rcsb pdb:6J50|rcsb pdb:6J51|rcsb pdb:6J9J|rcsb pdb:6PZV|rcsb pdb:6QXZ|rcsb pdb:6R0C|rcsb pdb:6RNY|rcsb pdb:6U04|rcsb pdb:7A08|reactome:R-HSA-427413|rcsb pdb:7CIZ|reactome:R-HSA-5250924|reactome:R-HSA-5334118|rcsb pdb:7CJ0|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-977225|reactome:R-HSA-983231|rcsb pdb:7CWH|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-427359|reactome:R-HSA-427389|ensembl:ENST00000254810(transcript)|ensembl:ENST00000366813(transcript)|ensembl:ENST00000366815(transcript)|ensembl:ENST00000366816(transcript)|ensembl:ENST00000586607(transcript)|ensembl:ENST00000587560(transcript)|ensembl:ENST00000589599(transcript)|ensembl:ENST00000655399(transcript)|ensembl:ENST00000661429(transcript)|ensembl:ENST00000666609(transcript)|go:"GO:0000228"(nuclear chromosome)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000786"(nucleosome)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000979"(RNA polymerase II core promoter sequence-specific DNA binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0006336"(DNA replication-independent chromatin assembly)|go:"GO:0030307"(positive regulation of cell growth)|go:"GO:0031492"(nucleosomal DNA binding)|go:"GO:0032200"(telomere organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000164(Histone H3)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|mint:P84243|rcsb pdb:2L43|rcsb pdb:3ASK|rcsb pdb:3ASL|rcsb pdb:3AV2|rcsb pdb:3JVK|rcsb pdb:3MUK|rcsb pdb:3MUL|dip:DIP-40046N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:cRqA5/IBNfIbbxAnbwLqzXip20I9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14444 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1047080|uniprotkb:Q15074|intact:EBI-1171814|uniprotkb:Q6IMN4|uniprotkb:A6NMY7|uniprotkb:Q6IMN7|uniprotkb:Q9BV09|intact:EBI-2562858|intact:EBI-3449178|uniprotkb:D3DR06|ensembl:ENSP00000340329|ensembl:ENSP00000434150 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:capr1_human(display_long)|uniprotkb:CAPRIN1(gene name)|psi-mi:CAPRIN1(display_short)|uniprotkb:GPIAP1(gene name synonym)|uniprotkb:GPIP137(gene name synonym)|uniprotkb:M11S1(gene name synonym)|uniprotkb:Cytoplasmic activation- and proliferation-associated protein 1(gene name synonym)|uniprotkb:GPI-anchored membrane protein 1(gene name synonym)|uniprotkb:GPI-anchored protein p137(gene name synonym)|uniprotkb:Cell cycle-associated protein 1(gene name synonym)|uniprotkb:Membrane component chromosome 11 surface marker 1(gene name synonym)|uniprotkb:RNG105(gene name synonym)|uniprotkb:RNA granule protein 105(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005889.3|refseq:NP_976240.1|ensembl:ENSG00000135387(gene)|ensembl:ENST00000341394(transcript)|ensembl:ENST00000532820(transcript)|go:"GO:0000932"(P-body)|go:"GO:0003723"(RNA binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0030027"(lamellipodium)|go:"GO:0030425"(dendrite)|go:"GO:0031252"(cell leading edge)|go:"GO:0045202"(synapse)|go:"GO:0050775"(positive regulation of dendrite morphogenesis)|go:"GO:0061003"(positive regulation of dendritic spine morphogenesis)|interpro:IPR022070|interpro:IPR028816|interpro:IPR041637|mint:Q14444|rcsb pdb:4WBE|rcsb pdb:4WBP|rcsb pdb:6TA7|refseq:XP_016873238.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3c6ZdBClP/D6jIi8NfzBkMc61pI9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P26373 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356849|uniprotkb:Q3KQT8|uniprotkb:Q9BPX0|uniprotkb:Q567Q8|uniprotkb:B4DLX3|uniprotkb:F5H1S2|ensembl:ENSP00000307889|ensembl:ENSP00000376811|ensembl:ENSP00000455009 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl13_human(display_long)|uniprotkb:RPL13(gene name)|psi-mi:RPL13(display_short)|uniprotkb:BBC1(gene name synonym)|uniprotkb:Breast basic conserved protein 1(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL13(gene name synonym)|uniprotkb:OK/SW-cl.46(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000968.2|refseq:NP_150254.1|refseq:NP_001230059.1|refseq:NP_001230060.1|ensembl:ENSG00000167526(gene)|ensembl:ENST00000311528(transcript)|ensembl:ENST00000393099(transcript)|ensembl:ENST00000567815(transcript)|go:"GO:0001824"(blastocyst development)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0060348"(bone development)|interpro:IPR001380(Ribosomal protein L13e)|interpro:IPR018256|mint:P26373|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-192823 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2SZ+AEe41Ystwj9t9I0Z1cZ5GQ49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46783 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354442|uniprotkb:Q5TZC0|uniprotkb:B2R4E3|ensembl:ENSP00000481646|ensembl:ENSP00000494190|ensembl:ENSP00000494440|ensembl:ENSP00000497917 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs10_human(display_long)|uniprotkb:RPS10(gene name)|psi-mi:RPS10(display_short)|uniprotkb:Small ribosomal subunit protein eS10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001005.1|refseq:NP_001190174.1|refseq:NP_001191020.1|ensembl:ENSG00000124614(gene)|ensembl:ENST00000464218(transcript)|ensembl:ENST00000467531(transcript)|ensembl:ENST00000621356(transcript)|ensembl:ENST00000648437(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|interpro:IPR005326(Plectin/S10, N-terminal)|rcsb pdb:6G51|interpro:IPR036388|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|interpro:IPR037447|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|mint:P46783|rcsb pdb:4UG0|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:4V6X|rcsb pdb:6ZUO|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|rcsb pdb:5T2C|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GWUAJh7s0w/ar/SOpx0hiIJOr2c9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BQG0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-676973|intact:EBI-2559619|uniprotkb:Q86VM3|uniprotkb:Q9BW49|uniprotkb:Q9P0V5|uniprotkb:Q9UF99|ensembl:ENSP00000254718 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mbb1a_human(display_long)|uniprotkb:MYBBP1A(gene name)|psi-mi:MYBBP1A(display_short)|uniprotkb:P160(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001099008.1|refseq:NP_055335.2|ensembl:ENST00000254718(transcript)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0008134"(transcription factor binding)|go:"GO:0016020"(membrane)|go:"GO:0022904"(respiratory electron transport chain)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0042149"(cellular response to glucose starvation)|go:"GO:0042254"(ribosome biogenesis)|ensembl:ENSG00000132382(gene)|go:"GO:0042564"(NLS-dependent protein nuclear import complex)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0070888"(E-box binding)|go:"GO:0072332"(intrinsic apoptotic signaling pathway by p53 class mediator)|go:"GO:2000210"(positive regulation of anoikis)|interpro:IPR007015(DNA polymerase V)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR016024(Armadillo-type fold)|mint:Q9BQG0|reactome:R-HSA-5250924 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ScabTPXvbX/5VRsnaRQXUIlANow9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0Y2S9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11030065|ensembl:ENSP00000317786 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0y2s9_human(display_long)|uniprotkb:MPRIP(gene name)|psi-mi:MPRIP(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000133030(gene)|ensembl:ENST00000313485(transcript)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0005829"(cytosol) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8zQ06Dqyb8MrVdNyvRfBv6jFWsQ9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62873 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357130|ensembl:ENSP00000367872|ensembl:ENSP00000481878|uniprotkb:P04901|uniprotkb:P04697|uniprotkb:B1AJZ7|uniprotkb:Q1RMY8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gbb1_human(display_long)|uniprotkb:GNB1(gene name)|psi-mi:GNB1(display_short)|uniprotkb:Transducin beta chain 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR001632(G-protein, beta subunit)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR016346(Guanine nucleotide-binding protein, beta subunit)|interpro:IPR019775|interpro:IPR020472|interpro:IPR036322|mint:P62873|rcsb pdb:4KFM|rcsb pdb:4PNK|rcsb pdb:5HE0|rcsb pdb:5HE1|rcsb pdb:5HE2|rcsb pdb:5HE3|rcsb pdb:5UKK|rcsb pdb:5UKL|rcsb pdb:5UKM|rcsb pdb:5UZ7|rcsb pdb:6B3J|rcsb pdb:6CRK|rcsb pdb:6D9H|rcsb pdb:6DDE|rcsb pdb:6DDF|rcsb pdb:6E3Y|rcsb pdb:6EG8|rcsb pdb:6G79|rcsb pdb:6GDG|rcsb pdb:6KPF|rcsb pdb:6KPG|go:"GO:1903561"(extracellular vesicle)|rcsb pdb:6LFM|rcsb pdb:6LFO|rcsb pdb:6LI3|rcsb pdb:6LMK|rcsb pdb:6LML|rcsb pdb:6M1H|rcsb pdb:6M1I|rcsb pdb:6M8S|rcsb pdb:6N4B|rcsb pdb:6NI3|rcsb pdb:6NIY|rcsb pdb:6OIJ|rcsb pdb:6OIK|rcsb pdb:6OMM|rcsb pdb:6ORV|rcsb pdb:6OS9|rcsb pdb:6OSA|rcsb pdb:6OT0|rcsb pdb:6P9X|rcsb pdb:6P9Y|rcsb pdb:6PB0|rcsb pdb:6PB1|rcsb pdb:6PT0|rcsb pdb:6UUN|rcsb pdb:6UUS|rcsb pdb:6UVA|rcsb pdb:6VCB|rcsb pdb:6VMS|rcsb pdb:6VN7|rcsb pdb:6WHA|rcsb pdb:6WHC|rcsb pdb:6WI9|rcsb pdb:6WPW|rcsb pdb:6WZG|rcsb pdb:6X18|rcsb pdb:6X19|rcsb pdb:6X1A|rcsb pdb:6XBJ|rcsb pdb:6XBK|rcsb pdb:6XBL|rcsb pdb:6XBM|rcsb pdb:6XOX|rcsb pdb:7AUE|rcsb pdb:7BB6|rcsb pdb:7BB7|rcsb pdb:7C2E|rcsb pdb:7CFM|rcsb pdb:7CFN|rcsb pdb:7CKW|rcsb pdb:7CKX|rcsb pdb:7CKY|rcsb pdb:7CKZ|rcsb pdb:7CMU|rcsb pdb:7CMV|rcsb pdb:7CRH|rcsb pdb:7CX2|rcsb pdb:7CX4|rcsb pdb:7D76|rcsb pdb:7D77|rcsb pdb:7D7M|rcsb pdb:7DFL|rcsb pdb:7E2X|rcsb pdb:7E2Y|rcsb pdb:7E2Z|rcsb pdb:7E32|rcsb pdb:7E33|rcsb pdb:7E9G|rcsb pdb:7E9H|rcsb pdb:7CX3|rcsb pdb:7EB2|rcsb pdb:7JOZ|rcsb pdb:7JV5|rcsb pdb:7JVP|rcsb pdb:7JVQ|rcsb pdb:7JVR|rcsb pdb:7K7L|rcsb pdb:7K7Z|rcsb pdb:7KH0|rcsb pdb:7L0P|rcsb pdb:7L0Q|rcsb pdb:7L0R|rcsb pdb:7L0S|rcsb pdb:7L1U|rcsb pdb:7L1V|rcsb pdb:7LCI|reactome:R-HSA-1296041|reactome:R-HSA-163359|reactome:R-HSA-202040|reactome:R-HSA-2485179|reactome:R-HSA-2514859|reactome:R-HSA-381676|reactome:R-HSA-381753|reactome:R-HSA-392170|reactome:R-HSA-392451|reactome:R-HSA-392851|reactome:R-HSA-400042|reactome:R-HSA-4086398|reactome:R-HSA-416476|reactome:R-HSA-416482|reactome:R-HSA-418217|reactome:R-HSA-418555|reactome:R-HSA-418592|reactome:R-HSA-418594|reactome:R-HSA-418597|reactome:R-HSA-420092|reactome:R-HSA-428930|reactome:R-HSA-432040|reactome:R-HSA-456926|reactome:R-HSA-500657|reactome:R-HSA-6814122|reactome:R-HSA-8964315|reactome:R-HSA-8964616|reactome:R-HSA-9009391|reactome:R-HSA-9660821|reactome:R-HSA-997272|ensembl:ENST00000610897(transcript)|go:"GO:0001917"(photoreceptor inner segment)|go:"GO:0003924"(GTPase activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005834"(heterotrimeric G-protein complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0007165"(signal transduction)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007191"(adenylate cyclase-activating dopamine receptor signaling pathway)|go:"GO:0007200"(phospholipase C-activating G protein-coupled receptor signaling pathway)|go:"GO:0007204"(positive regulation of cytosolic calcium ion concentration)|go:"GO:0007213"(G protein-coupled acetylcholine receptor signaling pathway)|go:"GO:0007265"(Ras protein signal transduction)|go:"GO:0008283"(cell population proliferation)|go:"GO:0010659"(cardiac muscle cell apoptotic process)|go:"GO:0016020"(membrane)|go:"GO:0030425"(dendrite)|go:"GO:0030507"(spectrin binding)|go:"GO:0031682"(G-protein gamma-subunit binding)|go:"GO:0042622"(photoreceptor outer segment membrane)|go:"GO:0044297"(cell body)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045202"(synapse)|go:"GO:0047391"(alkylglycerophosphoethanolamine phosphodiesterase activity)|go:"GO:0050909"(sensory perception of taste)|go:"GO:0051020"(GTPase binding)|go:"GO:0060041"(retina development in camera-type eye)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071380"(cellular response to prostaglandin E stimulus)|go:"GO:0071456"(cellular response to hypoxia)|go:"GO:0071870"(cellular response to catecholamine stimulus)|go:"GO:0097381"(photoreceptor disc membrane)|ensembl:ENSG00000078369(gene)|ensembl:ENST00000378609(transcript)|refseq:NP_001269467.1|refseq:NP_001269468.1|dip:DIP-599N|refseq:NP_002065.1|refseq:XP_016856548.1|refseq:XP_016856549.1|refseq:XP_016856550.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:zP/G70MXiSQpzbyyWFTWrJFQENk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F8VYE8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043886|ensembl:ENSP00000448981 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f8vye8_human(display_long)|uniprotkb:PPP1CC(gene name)|psi-mi:PPP1CC(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000186298(gene)|ensembl:ENST00000550991(transcript)|go:"GO:0000164"(protein phosphatase type 1 complex)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005977"(glycogen metabolic process)|go:"GO:0046872"(metal ion binding)|go:"GO:0051301"(cell division)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|go:"GO:0106306"|go:"GO:0106307"|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR006186("Serine/threonine-specific protein phosphatase and bis(5-nucleosyl)-tetraphosphatase")|interpro:IPR029052|interpro:IPR031675|interpro:IPR037979 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:EBrlHzeyjZfe+nSqdttxrL78UMY9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PDY7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27047401|ensembl:ENSP00000417497 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pdy7_human(display_long)|uniprotkb:PHLDB2(gene name)|psi-mi:PHLDB2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000144824(gene)|ensembl:ENST00000478922(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0045111"(intermediate filament cytoskeleton) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VjKiFxjcFcMdcPEO4BXsU5DX9cw9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P16144 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-948678|ensembl:ENSP00000200181|uniprotkb:O14690|uniprotkb:O14691|uniprotkb:O15339|uniprotkb:O15340|uniprotkb:O15341|uniprotkb:Q9UIQ4|uniprotkb:A0AVL6|uniprotkb:Q0VF97 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:itb4_human(display_long)|uniprotkb:GP150(gene name synonym)|uniprotkb:ITGB4(gene name)|psi-mi:ITGB4(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 dip:DIP-40182N|ensembl:ENSG00000132470(gene)|ensembl:ENST00000200181(transcript)|go:"GO:0001664"(G protein-coupled receptor binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005604"(basement membrane)|go:"GO:0005730"(nucleolus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006914"(autophagy)|go:"GO:0007155"(cell adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0008305"(integrin complex)|go:"GO:0009611"(response to wounding)|go:"GO:0009925"(basal plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0016477"(cell migration)|go:"GO:0030054"(cell junction)|go:"GO:0030056"(hemidesmosome)|go:"GO:0031252"(cell leading edge)|go:"GO:0031581"(hemidesmosome assembly)|go:"GO:0031965"(nuclear membrane)|go:"GO:0032290"(peripheral nervous system myelin formation)|go:"GO:0033627"(cell adhesion mediated by integrin)|go:"GO:0035878"(nail development)|go:"GO:0043235"(receptor complex)|go:"GO:0043589"(skin morphogenesis)|go:"GO:0046847"(filopodium assembly)|go:"GO:0048333"(mesodermal cell differentiation)|go:"GO:0048870"(cell motility)|go:"GO:0061450"(trophoblast cell migration)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000742(EGF-like, type 3)|interpro:IPR002369(Integrin beta subunit, N-terminal)|interpro:IPR003644(Na-Ca exchanger/integrin-beta4)|interpro:IPR003961(Fibronectin, type III)|interpro:IPR012013(Integrin beta-4 subunit)|interpro:IPR012896(Integrin beta subunit, tail)|interpro:IPR013111(EGF, extracellular)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR015812(Integrin beta subunit)|interpro:IPR016201(Plexin-like fold)|interpro:IPR033760|interpro:IPR036116|interpro:IPR036349|interpro:IPR036465|interpro:IPR038081|interpro:IPR040622|mint:P16144|rcsb pdb:1QG3|rcsb pdb:2YRZ|rcsb pdb:3F7P|rcsb pdb:3F7Q|rcsb pdb:3F7R|rcsb pdb:3FQ4|rcsb pdb:3FSO|rcsb pdb:3H6A|rcsb pdb:4Q58|rcsb pdb:4WTW|rcsb pdb:4WTX|rcsb pdb:6GVK|rcsb pdb:6GVL|reactome:R-HSA-2022090|reactome:R-HSA-3000157|reactome:R-HSA-3000170|reactome:R-HSA-446107|refseq:NP_000204.3|refseq:NP_001005619.1|refseq:NP_001005731.1|refseq:NP_001308052.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XSzTESyjef5LPBxsph8tWNGJ2u49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:K7ELC7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26519491|ensembl:ENSP00000466019 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k7elc7_human(display_long)|uniprotkb:RPL27(gene name)|psi-mi:RPL27(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000131469(gene)|ensembl:ENST00000586277(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001141(Ribosomal protein L27e)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR018262|interpro:IPR038655|interpro:IPR041991 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:sY/e/2jPIUJK12kkFbmdm5zxboY9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H0YN81 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27047386|ensembl:ENSP00000453902 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h0yn81_human(display_long)|uniprotkb:WDR61(gene name)|psi-mi:WDR61(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000140395(gene)|ensembl:ENST00000560569(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR020472|interpro:IPR036322 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:urh8CEObp8kxNPTCILIxhma000g9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96C19 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-4290759|uniprotkb:Q5JYW9|ensembl:ENSP00000365147 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:efhd2_human(display_long)|uniprotkb:EFHD2(gene name)|psi-mi:EFHD2(display_short)|uniprotkb:SWS1(gene name synonym)|uniprotkb:Swiprosin-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_077305.2|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR040365|mint:Q96C19|rcsb pdb:5H0P|rcsb pdb:5I2L|rcsb pdb:5I2O|rcsb pdb:5I2Q|reactome:R-HSA-9013405|go:"GO:0045296"(cadherin binding)|ensembl:ENSG00000142634(gene)|ensembl:ENST00000375980(transcript)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0045121"(membrane raft) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XBEoBjyjLxPn5MvaBph9sdsgdLk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A0A075B7D9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27045706|ensembl:ENSP00000474522|ensembl:ENSP00000488803 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a0a075b7d9_human(display_long)|uniprotkb:TAF15(gene name)|psi-mi:TAF15(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000270647(gene)|ensembl:ENSG00000276833(gene)|ensembl:ENST00000603777(transcript)|ensembl:ENST00000633578(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR001876(Zinc finger, RanBP2-type)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034870|interpro:IPR034875|interpro:IPR035979|interpro:IPR036443 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:QP8A/3t9iZotETBjhCYzAHx520g9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P40429 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-720205|uniprotkb:A8K505|ensembl:ENSP00000375730 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl13a_human(display_long)|uniprotkb:23 kDa highly basic protein(gene name synonym)|uniprotkb:RPL13A(gene name)|psi-mi:RPL13A(display_short)|uniprotkb:Large ribosomal subunit protein uL13(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036555.1|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|rcsb pdb:6OLF|ensembl:ENSG00000142541(gene)|ensembl:ENST00000391857(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0015934"(large ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0097452"(GAIT complex)|go:"GO:1901194"(negative regulation of formation of translation preinitiation complex)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR005755(Ribosomal protein L13, eukaryotic/archaeal)|interpro:IPR005822(Ribosomal protein L13)|interpro:IPR023563|interpro:IPR036899|mint:P40429|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|refseq:NP_001257420.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:pcKDTEBZXxtm1MAH+4nv0p3PqFs9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:K7ELC2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21351501|ensembl:ENSP00000466010 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k7elc2_human(display_long)|uniprotkb:RPS15(gene name)|psi-mi:RPS15(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000115268(gene)|ensembl:ENST00000593052(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|interpro:IPR002222(Ribosomal protein S19/S15)|interpro:IPR005713(Ribosomal protein S15, eukaryotic/archaeal)|interpro:IPR020934|interpro:IPR023575|go:"GO:0003723"(RNA binding)|refseq:NP_001295155.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ojF8M6L9TAZbpoLsx23wauz3djs9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NR30 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357942|uniprotkb:Q13436|uniprotkb:Q5VX41|uniprotkb:Q68D35|uniprotkb:B2RDL0|intact:EBI-2555822|ensembl:ENSP00000346120 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ddx21_human(display_long)|uniprotkb:DDX21(gene name)|psi-mi:DDX21(display_short)|uniprotkb:Nucleolar RNA helicase II(gene name synonym)|uniprotkb:Nucleolar RNA helicase Gu(gene name synonym)|uniprotkb:RH II/Gu(gene name synonym)|uniprotkb:Gu-alpha(gene name synonym)|uniprotkb:DEAD box protein 21(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004719.2|dip:DIP-32941N|refseq:NP_001243839.1|ensembl:ENSG00000165732(gene)|ensembl:ENST00000354185(transcript)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0002735"(positive regulation of myeloid dendritic cell cytokine production)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005739"(mitochondrion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006366"(transcription by RNA polymerase II)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0030515"(snoRNA binding)|go:"GO:0035198"(miRNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0045087"(innate immune response)|go:"GO:0051607"(defense response to virus)|go:"GO:0062176"(R-loop disassembly)|go:"GO:0097322"(7SK snRNA binding)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR012562(GUCT)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR027417|interpro:IPR035979|mint:Q9NR30|rcsb pdb:2M3D|rcsb pdb:6L5L|rcsb pdb:6L5M|rcsb pdb:6L5N|rcsb pdb:6L5O|reactome:R-HSA-5250924|reactome:R-HSA-6791226|go:"GO:0005829"(cytosol) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:NSmxvs3DBWvKpVDEAHIpqy7/b6w9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PB61 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6190851|ensembl:ENSP00000421592 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pb61_human(display_long)|uniprotkb:ALYREF(gene name)|psi-mi:ALYREF(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000183684(gene)|ensembl:ENST00000505490(transcript)|go:"GO:0003723"(RNA binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR025715|interpro:IPR035979|go:"GO:0016607"(nuclear speck)|refseq:NP_005773.3 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:1TYm+flGafmObpUMr0SV5tuEDR49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92769 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-301821|uniprotkb:Q5SRI8|uniprotkb:Q5SZ86|uniprotkb:Q8NEH4|uniprotkb:B4DL58|ensembl:ENSP00000430432|uniprotkb:E1P561|uniprotkb:B3KRS5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hdac2_human(display_long)|uniprotkb:HDAC2(gene name)|psi-mi:HDAC2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0009913"(epidermal cell differentiation)|go:"GO:0010718"(positive regulation of epithelial to mesenchymal transition)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0016358"(dendrite development)|go:"GO:0016575"(histone deacetylation)|go:"GO:0016580"(Sin3 complex)|go:"GO:0016581"(NuRD complex)|go:"GO:0019213"(deacetylase activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0031000"(response to caffeine)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0032041"("NAD-dependent histone deacetylase activity (H3-K14 specific)")|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032732"(positive regulation of interleukin-1 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032967"(positive regulation of collagen biosynthetic process)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033558"(protein deacetylase activity)|go:"GO:0034605"(cellular response to heat)|go:"GO:0035094"(response to nicotine)|go:"GO:0035098"("ESC/E(Z) complex")|go:"GO:0042220"(response to cocaine)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0042493"|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042733"(embryonic digit morphogenesis)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043044"|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043392"(negative regulation of DNA binding)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045347"(negative regulation of MHC class II biosynthetic process)|go:"GO:0045862"(positive regulation of proteolysis)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048149"(behavioral response to ethanol)|go:"GO:0004407"(histone deacetylase activity)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0055093"(response to hyperoxia)|go:"GO:0060789"(hair follicle placode formation)|go:"GO:0061000"(negative regulation of dendritic spine development)|go:"GO:0061029"(eyelid development in camera-type eye)|go:"GO:0061198"(fungiform papilla formation)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070301"(cellular response to hydrogen peroxide)|go:"GO:0070829"(obsolete heterochromatin maintenance)|go:"GO:0070932"(histone H3 deacetylation)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:0071300"(cellular response to retinoic acid)|go:"GO:0071560"(cellular response to transforming growth factor beta stimulus)|go:"GO:1902437"(positive regulation of male mating behavior)|go:"GO:1903351"(cellular response to dopamine)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:2000273"(positive regulation of signaling receptor activity)|go:"GO:2000757"(negative regulation of peptidyl-lysine acetylation)|interpro:IPR000286(Histone deacetylase superfamily)|interpro:IPR003084(Histone deacetylase)|interpro:IPR023696|interpro:IPR023801|interpro:IPR037138|mint:Q92769|rcsb pdb:3MAX|rcsb pdb:4LXZ|rcsb pdb:4LY1|rcsb pdb:5IWG|rcsb pdb:5IX0|rcsb pdb:6G3O|rcsb pdb:6WBW|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|ensembl:ENSG00000196591(gene)|ensembl:ENST00000519065(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0001975"(response to amphetamine)|go:"GO:0003300"(cardiac muscle hypertrophy)|go:"GO:0003682"(chromatin binding)|go:"GO:0003723"(RNA binding)|rcsb pdb:6WHN|rcsb pdb:6WHO|rcsb pdb:6WHQ|rcsb pdb:6WHZ|rcsb pdb:6WI3|rcsb pdb:6XDM|rcsb pdb:6XEB|rcsb pdb:6XEC|rcsb pdb:7KBG|rcsb pdb:7KBH|rcsb pdb:7LTG|rcsb pdb:7LTK|rcsb pdb:7LTL|reactome:R-HSA-193670|reactome:R-HSA-2122947|reactome:R-HSA-2644606|reactome:R-HSA-2894862|reactome:R-HSA-3214815|reactome:R-HSA-350054|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-4551638|reactome:R-HSA-6804758|reactome:R-HSA-73762|reactome:R-HSA-8943724|reactome:R-HSA-9022692|reactome:R-HSA-9022699|reactome:R-HSA-9615017|reactome:R-HSA-9619665|reactome:R-HSA-9679191|reactome:R-HSA-983231|rcsb pdb:6WBZ|refseq:NP_001518.3|dip:DIP-24220N|refseq:XP_011534090.1|refseq:XP_016866288.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:K4PpGz9E9/TrQZsgvrJuc+uYCn89606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P54709 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1054481|uniprotkb:B7Z1N7|ensembl:ENSP00000286371 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:at1b3_human(display_long)|uniprotkb:Sodium/potassium-dependent ATPase subunit beta-3(gene name synonym)|uniprotkb:ATP1B3(gene name)|psi-mi:ATP1B3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001670.1|ensembl:ENSG00000069849(gene)|ensembl:ENST00000286371(transcript)|go:"GO:0001671"(ATPase activator activity)|go:"GO:0005391"("P-type sodium:potassium-exchanging transporter activity")|go:"GO:0005886"(plasma membrane)|go:"GO:0005890"("sodium:potassium-exchanging ATPase complex")|go:"GO:0005901"(caveola)|go:"GO:0006883"(cellular sodium ion homeostasis)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030674"(protein-macromolecule adaptor activity)|go:"GO:0032781"(positive regulation of ATP-dependent activity)|go:"GO:0035725"(sodium ion transmembrane transport)|go:"GO:0036126"(sperm flagellum)|go:"GO:0036376"(sodium ion export across plasma membrane)|go:"GO:0042470"(melanosome)|go:"GO:0050821"(protein stabilization)|go:"GO:0051117"(ATPase binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0086009"(membrane repolarization)|go:"GO:1901018"(positive regulation of potassium ion transmembrane transporter activity)|go:"GO:1903278"(positive regulation of sodium ion export across plasma membrane)|go:"GO:1903288"(positive regulation of potassium ion import across plasma membrane)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR000402(ATPase, P-type cation exchange, beta subunit)|interpro:IPR038702|mint:P54709|reactome:R-HSA-210991|reactome:R-HSA-5578775|reactome:R-HSA-936837|reactome:R-HSA-9679191|dip:DIP-50717N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:M7gSVe1bjKF7LqCZh/raoHBvp7M9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14828 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-4401333|ensembl:ENSP00000307275|ensembl:ENSP00000461521|uniprotkb:A9Z1W6|uniprotkb:B1AVS6|uniprotkb:O15128|uniprotkb:Q96FR8|uniprotkb:Q9BPY0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:scam3_human(display_long)|uniprotkb:SCAMP3(gene name)|psi-mi:SCAMP3(display_short)|uniprotkb:C1orf3(gene name synonym)|uniprotkb:PROPIN1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000116521(gene)|ensembl:ENSG00000263290(gene)|ensembl:ENST00000302631(transcript)|ensembl:ENST00000570831(transcript)|go:"GO:0006892"(post-Golgi vesicle-mediated transport)|go:"GO:0015031"(protein transport)|go:"GO:0016021"(integral component of membrane)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0070062"(extracellular exosome)|interpro:IPR007273(SCAMP)|mint:O14828|ensembl:ENSP00000307275|ensembl:ENST00000355379|ensembl:ENSP00000347540|ensembl:ENSP00000461521|ensembl:ENST00000573013|ensembl:ENSP00000458542|refseq:NP_005689.2|refseq:NP_443069.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:q1GaoVa7cLS2hGHVUM5Nv2oX4x09606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P60866 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353105|uniprotkb:P17075|uniprotkb:Q5M8S9|uniprotkb:B2R4F4|uniprotkb:B4DW28|ensembl:ENSP00000009589|ensembl:ENSP00000427788|ensembl:ENSP00000503327|ensembl:ENSP00000504123|ensembl:ENSP00000504154|ensembl:ENSP00000504670 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs20_human(display_long)|uniprotkb:RPS20(gene name)|psi-mi:RPS20(display_short)|uniprotkb:Small ribosomal subunit protein uS10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001014.1|refseq:NP_001139699.1|dip:DIP-31245N|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|ensembl:ENSG00000008988(gene)|ensembl:ENST00000009589(transcript)|ensembl:ENST00000521262(transcript)|ensembl:ENST00000676461(transcript)|ensembl:ENST00000676918(transcript)|ensembl:ENST00000678039(transcript)|ensembl:ENST00000678683(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0045202"(synapse)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097371"(MDM2/MDM4 family protein binding)|go:"GO:1901798"(positive regulation of signal transduction by p53 class mediator)|go:"GO:1990948"(ubiquitin ligase inhibitor activity)|interpro:IPR001848(Ribosomal protein S10)|interpro:IPR005729(Ribosomal protein S10, eukaryotic/archaeal)|interpro:IPR018268|interpro:IPR027486|interpro:IPR036838|mint:P60866|rcsb pdb:4UG0|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6xNxX+eP59AOm0KraCysRHUqMFw9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H0U4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1045214|ensembl:ENSP00000310226|uniprotkb:A8K7S1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rab1b_human(display_long)|uniprotkb:RAB1B(gene name)|psi-mi:RAB1B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000174903(gene)|ensembl:ENST00000311481(transcript)|go:"GO:0000045"(autophagosome assembly)|go:"GO:0000139"(Golgi membrane)|go:"GO:0003924"(GTPase activity)|go:"GO:0003925"(G protein activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0012505"(endomembrane system)|go:"GO:0019068"(virion assembly)|go:"GO:0030133"(transport vesicle)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0034045"(phagophore assembly site membrane)|go:"GO:0048471"(perinuclear region of cytoplasm)|refseq:NP_112243.1|go:"GO:0070062"(extracellular exosome)|go:"GO:1903020"(positive regulation of glycoprotein metabolic process)|go:"GO:2000785"(regulation of autophagosome assembly)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|mint:Q9H0U4|rcsb pdb:3JZA|rcsb pdb:3NKV|rcsb pdb:4HLQ|rcsb pdb:4I1O|rcsb pdb:5O74|rcsb pdb:5SZH|rcsb pdb:5SZK|rcsb pdb:6SKU|reactome:R-HSA-162658|reactome:R-HSA-204005|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-8873719|reactome:R-HSA-8876198|dip:DIP-42462N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:EI6DHq7xCboSkoqGY5NmVY4Iqf09606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q12906 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-78756|uniprotkb:A8K6F2|uniprotkb:O43409|uniprotkb:Q6P1X1|uniprotkb:Q86XY7|uniprotkb:Q99544|uniprotkb:Q99545|uniprotkb:Q9BZH4|uniprotkb:Q9BZH5|uniprotkb:Q9NQ95|uniprotkb:Q9NQ96|uniprotkb:Q9NQ97|uniprotkb:Q9NQ98|uniprotkb:Q9NQ99|uniprotkb:Q9NQA0|uniprotkb:Q9NQA1|uniprotkb:Q9NQA2|uniprotkb:Q9NRN2|uniprotkb:Q9NRN3|uniprotkb:Q9NRN4|uniprotkb:Q9UMZ9|uniprotkb:Q9UN00|uniprotkb:Q9UN84|uniprotkb:Q9UNA2|ensembl:ENSP00000468156|intact:EBI-10970055|uniprotkb:G5E9M5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ilf3_human(display_long)|uniprotkb:ILF3(gene name)|psi-mi:ILF3(display_short)|uniprotkb:MPHOSPH4(gene name synonym)|uniprotkb:NF90(gene name synonym)|uniprotkb:Nuclear factor of activated T-cells 90 kDa(gene name synonym)|uniprotkb:Double-stranded RNA-binding protein 76(gene name synonym)|uniprotkb:Translational control protein 80(gene name synonym)|uniprotkb:Nuclear factor associated with dsRNA(gene name synonym)|uniprotkb:M-phase phosphoprotein 4(gene name synonym)|uniprotkb:DRBF(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000129351(gene)|ensembl:ENST00000590261(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0003727"(single-stranded RNA binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0035925"(mRNA 3'-UTR AU-rich region binding)|go:"GO:0045071"(negative regulation of viral genome replication)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0051607"(defense response to virus)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR006561(DZF)|interpro:IPR014720(Double-stranded RNA-binding-like)|interpro:IPR033099|interpro:IPR043519|mint:Q12906|rcsb pdb:2L33|rcsb pdb:3P1X|refseq:NP_001131145.1|refseq:NP_004507.2|refseq:NP_036350.2|refseq:NP_060090.2|refseq:NP_703194.1|refseq:XP_016882252.1|refseq:XP_011526286.2|dip:DIP-29853N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iri+WBUtektANRSCpBO1XBCd9Wk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:D6RBV2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043686|ensembl:ENSP00000423998 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:d6rbv2_human(display_long)|uniprotkb:LMAN2(gene name)|psi-mi:LMAN2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000169223(gene)|ensembl:ENST00000515209(transcript)|go:"GO:0016020"(membrane)|interpro:IPR005052(Legume-like lectin)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR035664 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Lm1MuO6MqJf8FtLYmScGw74ExQ89606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q00610 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354967|intact:EBI-28974011|ensembl:ENSP00000269122|uniprotkb:Q6N0A0|uniprotkb:Q86TF2|uniprotkb:D3DU00 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:clh1_human(display_long)|uniprotkb:Clathrin heavy chain on chromosome 17(gene name synonym)|uniprotkb:CLTC(gene name)|psi-mi:CLTC(display_short)|uniprotkb:CLH17(gene name synonym)|uniprotkb:KIAA0034(gene name synonym)|uniprotkb:CLTCL2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000141367(gene)|ensembl:ENST00000269122(transcript)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005819"(spindle)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0006914"(autophagy)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0050750"(low-density lipoprotein particle receptor binding)|go:"GO:0030118"(clathrin coat)|go:"GO:0030130"(clathrin coat of trans-Golgi network vesicle)|go:"GO:0051301"(cell division)|go:"GO:0060236"(regulation of mitotic spindle organization)|go:"GO:0030132"(clathrin coat of coated pit)|go:"GO:0030136"(clathrin-coated vesicle)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0070062"(extracellular exosome)|go:"GO:0031623"(receptor internalization)|go:"GO:0032051"(clathrin light chain binding)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033572"(transferrin transport)|go:"GO:0036020"(endolysosome membrane)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045334"(clathrin-coated endocytic vesicle)|go:"GO:0048268"(clathrin coat assembly)|refseq:NP_004850.1|ensembl:ENSP00000269122|ensembl:ENST00000393043|ensembl:ENSP00000376763|go:"GO:0071439"(clathrin complex)|go:"GO:0072583"(clathrin-dependent endocytosis)|go:"GO:0072686"(mitotic spindle)|go:"GO:0097718"(disordered domain specific binding)|go:"GO:0150093"(amyloid-beta clearance by transcytosis)|go:"GO:1900126"(negative regulation of hyaluronan biosynthetic process)|go:"GO:1903077"(negative regulation of protein localization to plasma membrane)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1990381"(ubiquitin-specific protease binding)|go:"GO:1990498"(mitotic spindle microtubule)|interpro:IPR000547(Clathrin, heavy chain/VPS, 7-fold repeat)|interpro:IPR011990(Tetratricopeptide-like helical)|interpro:IPR015348(Clathrin, heavy chain, linker, core motif)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR016025(Clathrin, heavy chain, linker and propeller)|interpro:IPR016341(Clathrin, heavy chain)|interpro:IPR022365|mint:Q00610|rcsb pdb:2XZG|rcsb pdb:4G55|rcsb pdb:6E4L|rcsb pdb:6QNN|rcsb pdb:6QNP|reactome:R-HSA-168275|reactome:R-HSA-177504|reactome:R-HSA-190873|reactome:R-HSA-196025|reactome:R-HSA-2132295|reactome:R-HSA-3928665|reactome:R-HSA-432720|reactome:R-HSA-432722|reactome:R-HSA-437239|reactome:R-HSA-5099900|reactome:R-HSA-5140745|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8866427|reactome:R-HSA-8964038|reactome:R-HSA-9013420|reactome:R-HSA-9013424 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:oGsLXL5J5MHO+ronpDIG9hJ11sU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q12797 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2967294|ensembl:ENSP00000368767|uniprotkb:B4E2K4|uniprotkb:F5H667|uniprotkb:Q9NRI0|uniprotkb:Q9Y4J0|uniprotkb:Q9H2C4|uniprotkb:A6NDF4|uniprotkb:Q9NRI1|uniprotkb:A6NHI2|uniprotkb:B4DIC9|uniprotkb:B7ZM95|uniprotkb:E5RGP5|uniprotkb:Q6NXR7|uniprotkb:Q8TB28|uniprotkb:Q9H291|intact:EBI-8994140|uniprotkb:A0A0A0MSK8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:asph_human(display_long)|uniprotkb:ASPH(gene name)|psi-mi:ASPH(display_short)|uniprotkb:Aspartate beta-hydroxylase(gene name synonym)|uniprotkb:Peptide-aspartate beta-dioxygenase(gene name synonym)|uniprotkb:BAH(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000198363(gene)|ensembl:ENST00000379454(transcript)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005513"(detection of calcium ion)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0006936"(muscle contraction)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0009055"(electron transfer activity)|go:"GO:0010524"(positive regulation of calcium ion transport into cytosol)|go:"GO:0010649"(regulation of cell communication by electrical coupling)|go:"GO:0010880"(regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum)|go:"GO:0010881"(regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion)|go:"GO:0014701"(junctional sarcoplasmic reticulum membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030176"(integral component of endoplasmic reticulum membrane)|go:"GO:0031585"(regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity)|go:"GO:0032237"(activation of store-operated calcium channel activity)|go:"GO:0032541"(cortical endoplasmic reticulum)|go:"GO:0033017"(sarcoplasmic reticulum membrane)|go:"GO:0033018"(sarcoplasmic reticulum lumen)|go:"GO:0033198"(response to ATP)|go:"GO:0034704"(calcium channel complex)|go:"GO:0042264"(peptidyl-aspartic acid hydroxylation)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0045862"(positive regulation of proteolysis)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0055074"(calcium ion homeostasis)|go:"GO:0060314"(regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0060316"(positive regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0062101"(peptidyl-aspartic acid 3-dioxygenase activity)|go:"GO:0070588"(calcium ion transmembrane transport)|go:"GO:0071277"(cellular response to calcium ion)|go:"GO:0090316"(positive regulation of intracellular protein transport)|go:"GO:0097202"(activation of cysteine-type endopeptidase activity)|interpro:IPR007803(Aspartyl/Asparaginyl beta-hydroxylase)|interpro:IPR007943(Aspartyl beta-hydroxylase, N-terminal)|interpro:IPR011990(Tetratricopeptide-like helical)|rcsb pdb:5APA|rcsb pdb:5JQY|interpro:IPR019734|rcsb pdb:5JTC|interpro:IPR027443|interpro:IPR039038|rcsb pdb:5JZ6|mint:Q12797|rcsb pdb:5JZ8|rcsb pdb:5JZA|rcsb pdb:5JZU|rcsb pdb:6Q9F|rcsb pdb:6Q9I|rcsb pdb:6QA5|rcsb pdb:6RK9|rcsb pdb:6YYU|rcsb pdb:6YYV|rcsb pdb:6YYW|rcsb pdb:6YYX|rcsb pdb:6YYY|rcsb pdb:6Z6Q|rcsb pdb:6Z6R|rcsb pdb:7BMI|rcsb pdb:7BMJ|rcsb pdb:7E6J|reactome:R-HSA-5578775|reactome:R-HSA-2672351|refseq:NP_001158222.1|refseq:NP_004309.2|refseq:NP_064549.1|refseq:NP_115855.1|refseq:NP_115856.1|refseq:NP_001158223.1|refseq:NP_001158225.1|refseq:NP_001158227.1|refseq:NP_001158228.1|refseq:NP_115857.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8Sv1CuwqdVCK6/PF6kL0hkX3/tw9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04350 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355007|uniprotkb:B3KQP4|uniprotkb:Q969E5|ensembl:ENSP00000264071 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb4a_human(display_long)|uniprotkb:TUBB4A(gene name)|psi-mi:TUBB4A(display_short)|uniprotkb:TUBB4(gene name synonym)|uniprotkb:TUBB5(gene name synonym)|uniprotkb:Tubulin 5 beta(gene name synonym)|uniprotkb:Tubulin beta-4 chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006078.2|ensembl:ENSG00000104833(gene)|ensembl:ENST00000264071(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005874"(microtubule)|go:"GO:0005930"(axoneme)|go:"GO:0033269"(internode region of axon)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043209"(myelin sheath)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|go:"GO:0031115"(negative regulation of microtubule polymerization)|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P04350|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-2565942|reactome:R-HSA-3371497|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620912|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8854518|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|refseq:NP_001276052.1|refseq:NP_001276056.1|refseq:NP_001276058.1|refseq:NP_001276059.1|refseq:NP_001276060.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:mMveBNZkQs2x0dyHm/ghVWBe4/49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NWH9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2814558|uniprotkb:A8K5V8|uniprotkb:Q6ZNF2|uniprotkb:B2RTX3|uniprotkb:Q9H7C3|uniprotkb:Q658J7|uniprotkb:Q52MB3|uniprotkb:Q9H8U9|uniprotkb:Q86TK6|uniprotkb:Q2VPK7|ensembl:ENSP00000369887 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sltm_human(display_long)|uniprotkb:SLTM(gene name)|psi-mi:SLTM(display_short)|uniprotkb:MET(gene name synonym)|uniprotkb:Modulator of estrogen-induced transcription(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_006720753.1|refseq:NP_079031.2|refseq:NP_001013865.1|refseq:XP_016878069.1|ensembl:ENSG00000137776(gene)|ensembl:ENST00000380516(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006915"(apoptotic process)|go:"GO:0016604"(nuclear body)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0050684"(regulation of mRNA processing)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR003034(DNA-binding SAP)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034780|interpro:IPR035979|interpro:IPR036361|mint:Q9NWH9 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/B0FdPpFi/TvMq9aGjuLOQ3zIuo9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9K025 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26962012|ensembl:ENSP00000387688 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9k025_human(display_long)|uniprotkb:RPL35A(gene name)|psi-mi:RPL35A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000182899(gene)|ensembl:ENST00000442341(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001780(Ribosomal protein L35Ae)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR018266|interpro:IPR038661 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8N1PDXRk9/Uc1RI723BiErluIM49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14108 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1564650|uniprotkb:Q53Y63|uniprotkb:B4DKD8|uniprotkb:E7EM68|ensembl:ENSP00000264896 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:scrb2_human(display_long)|uniprotkb:Lysosome membrane protein II(gene name synonym)|uniprotkb:Scavenger receptor class B member 2(gene name synonym)|uniprotkb:85 kDa lysosomal membrane sialoglycoprotein(gene name synonym)|uniprotkb:CD36 antigen-like 2(gene name synonym)|uniprotkb:SCARB2(gene name)|psi-mi:SCARB2(display_short)|uniprotkb:CD36L2(gene name synonym)|uniprotkb:LIMPII(gene name synonym)|uniprotkb:LIMP2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001191184.1|refseq:NP_005497.1|ensembl:ENSG00000138760(gene)|ensembl:ENST00000264896(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001786"(phosphatidylserine binding)|go:"GO:0004888"(transmembrane signaling receptor activity)|go:"GO:0005044"(scavenger receptor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006622"(protein targeting to lysosome)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0007605"(sensory perception of sound)|go:"GO:0010008"(endosome membrane)|go:"GO:0010467"(gene expression)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0015485"(cholesterol binding)|go:"GO:0015917"(aminophospholipid transport)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0031210"(phosphatidylcholine binding)|go:"GO:0031902"(late endosome membrane)|go:"GO:0038024"(cargo receptor activity)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043471"(regulation of cellular carbohydrate catabolic process)|go:"GO:0051087"(chaperone binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904978"(regulation of endosome organization)|go:"GO:1905123"(regulation of glucosylceramidase activity)|go:"GO:1905671"(regulation of lysosome organization)|interpro:IPR002159(CD36 antigen)|interpro:IPR005429(Lysosome membrane protein II)|mint:Q14108|rcsb pdb:4F7B|rcsb pdb:4Q4B|rcsb pdb:4Q4F|rcsb pdb:4TVZ|rcsb pdb:4TW0|rcsb pdb:4TW2|rcsb pdb:5UPH|rcsb pdb:5XBM|rcsb pdb:6I2K|reactome:R-HSA-8856825|reactome:R-HSA-8856828 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:FXyG5dJv7OqGjSgl5slIqNxUqoI9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62854 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353438|uniprotkb:P02383|uniprotkb:Q3MHD8|uniprotkb:P70394|uniprotkb:Q06722|uniprotkb:Q6IRY4|ensembl:ENSP00000348849|ensembl:ENSP00000450339|ensembl:ENSP00000496643 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs26_human(display_long)|uniprotkb:RPS26(gene name)|psi-mi:RPS26(display_short)|uniprotkb:Small ribosomal subunit protein eS26(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001020.2|refseq:XP_005276741.1|rcsb pdb:6OLG|rcsb pdb:6OLF|ensembl:ENST00000356464(transcript)|ensembl:ENST00000552361(transcript)|ensembl:ENST00000646449(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0033119"(negative regulation of RNA splicing)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045296"(cadherin binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098556"(cytoplasmic side of rough endoplasmic reticulum membrane)|interpro:IPR000892(Ribosomal protein S26e)|interpro:IPR038551|mint:P62854|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6G5H|ensembl:ENSG00000197728(gene)|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-156827 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:bo2ruYMNjjLCMo/kwAWzmlJrrjU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B1ALY0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21595594|ensembl:ENSP00000397839 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b1aly0_human(display_long)|uniprotkb:PALM2AKAP2(gene name)|psi-mi:PALM2AKAP2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000157654(gene)|ensembl:ENST00000413420(transcript)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0016020"(membrane)|interpro:IPR004965(Paralemmin) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VFNGVQdN4+OWGrCnCA4thrUFmSU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O43293 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-77293|uniprotkb:A0AVN4|uniprotkb:B3KQE2|uniprotkb:Q05JY4|ensembl:ENSP00000301264|ensembl:ENSP00000442973 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dapk3_human(display_long)|uniprotkb:DAPK3(gene name)|psi-mi:DAPK3(display_short)|uniprotkb:ZIPK(gene name synonym)|uniprotkb:DAP-like kinase(gene name synonym)|uniprotkb:Zipper-interacting protein kinase(gene name synonym)|uniprotkb:MYPT1 kinase(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001339.1|refseq:XP_005259565.1|ensembl:ENSG00000167657(gene)|ensembl:ENST00000301264(transcript)|ensembl:ENST00000545797(transcript)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005884"(actin filament)|go:"GO:0006325"(chromatin organization)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0006915"(apoptotic process)|go:"GO:0006940"(regulation of smooth muscle contraction)|go:"GO:0007088"(regulation of mitotic nuclear division)|go:"GO:0007346"(regulation of mitotic cell cycle)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008140"(cAMP response element binding protein binding)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0016605"(PML body)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0030182"(neuron differentiation)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0031267"(small GTPase binding)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043519"(regulation of myosin II filament organization)|go:"GO:0043522"(leucine zipper domain binding)|go:"GO:0045121"(membrane raft)|go:"GO:0046777"(protein autophosphorylation)|go:"GO:0051893"(regulation of focal adhesion assembly)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0097190"(apoptotic signaling pathway)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|go:"GO:2000145"(regulation of cell motility)|go:"GO:2000249"(regulation of actin cytoskeleton reorganization)|go:"GO:2001241"(positive regulation of extrinsic apoptotic signaling pathway in absence of ligand)|interpro:IPR000719(Protein kinase, core)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR042870|mint:O43293|rcsb pdb:1YRP|rcsb pdb:2J90|rcsb pdb:3BHY|rcsb pdb:3BQR|rcsb pdb:5A6N|rcsb pdb:5A6O|rcsb pdb:5VJA|reactome:R-HSA-418889 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:s8wsdvHltjaM7k0sJRNSjpXVpwM9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P26006 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2550768|uniprotkb:B7ZM80|ensembl:ENSP00000315190|uniprotkb:A7E246|uniprotkb:B9EGQ1|uniprotkb:D3DTX4|uniprotkb:D3DTX5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ita3_human(display_long)|uniprotkb:ITGA3(gene name)|psi-mi:ITGA3(display_short)|uniprotkb:MSK18(gene name synonym)|uniprotkb:Galactoprotein B3(gene name synonym)|uniprotkb:VLA-3 subunit alpha(gene name synonym)|uniprotkb:FRP-2(gene name synonym)|uniprotkb:CD49 antigen-like family member C(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0042493"|go:"GO:0043235"(receptor complex)|go:"GO:0043236"(laminin binding)|go:"GO:0043588"(skin development)|go:"GO:0046872"(metal ion binding)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0048333"(mesodermal cell differentiation)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0060076"(excitatory synapse)|go:"GO:0060135"(maternal process involved in female pregnancy)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071944"(cell periphery)|go:"GO:0072006"(nephron development)|go:"GO:0097060"(synaptic membrane)|go:"GO:0097062"(dendritic spine maintenance)|go:"GO:0097205"(renal filtration)|go:"GO:0035640"(exploration behavior)|go:"GO:1990812"(growth cone filopodium)|interpro:IPR000413(Integrins alpha chain)|interpro:IPR013517(FG-GAP)|interpro:IPR013519(Integrin alpha beta-propellor)|interpro:IPR013649(Integrin alpha-2)|interpro:IPR018184|interpro:IPR028994|interpro:IPR032695|mint:P26006|reactome:R-HSA-210991|reactome:R-HSA-216083|reactome:R-HSA-3000157|reactome:R-HSA-8874081|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|ensembl:ENSG00000005884(gene)|ensembl:ENST00000320031(transcript)|go:"GO:0001764"(neuron migration)|go:"GO:0001968"(fibronectin binding)|go:"GO:0002020"(protease binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005518"(collagen binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0007507"(heart development)|go:"GO:0007613"(memory)|go:"GO:0008305"(integrin complex)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0010634"(positive regulation of epithelial cell migration)|go:"GO:0010811"(positive regulation of cell-substrate adhesion)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0017015"(regulation of transforming growth factor beta receptor signaling pathway)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030111"(regulation of Wnt signaling pathway)|go:"GO:0030324"(lung development)|go:"GO:0030510"(regulation of BMP signaling pathway)|go:"GO:0031345"(negative regulation of cell projection organization)|go:"GO:0031527"(filopodium membrane)|go:"GO:0034667"(integrin alpha3-beta1 complex)|go:"GO:0034698"(response to gonadotropin)|go:"GO:0035024"(negative regulation of Rho protein signal transduction)|refseq:NP_002195.1|dip:DIP-140N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:gmrsTA4D01ARM8U0n7b2HBjo9vs9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8NC51 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-523558|uniprotkb:Q8WUH0|uniprotkb:Q96SE2|uniprotkb:Q9BTY3|uniprotkb:Q9BUM4|uniprotkb:Q9Y367|uniprotkb:Q9Y4S3|uniprotkb:Q5VU19|intact:EBI-1058614|ensembl:ENSP00000360034|uniprotkb:Q5VU20|uniprotkb:Q5VU22 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pairb_human(display_long)|uniprotkb:PAI1 RNA-binding protein 1(gene name synonym)|uniprotkb:SERPINE1 mRNA-binding protein 1(gene name synonym)|uniprotkb:CGI-55(orf name)|uniprotkb:SERBP1(gene name)|psi-mi:SERBP1(display_short)|uniprotkb:PAIRBP1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000142864(gene)|ensembl:ENST00000370995(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0016020"(membrane)|go:"GO:0030578"(PML body organization)|go:"GO:0032183"(SUMO binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043022"(ribosome binding)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0045296"(cadherin binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0070062"(extracellular exosome)|interpro:IPR006861(Hyaluronan/mRNA binding protein)|interpro:IPR027205|interpro:IPR032381|interpro:IPR039764|mint:Q8NC51|rcsb pdb:4V6X|rcsb pdb:6Z6M|rcsb pdb:6Z6N|refseq:NP_001018077.1|refseq:NP_001018078.1|refseq:NP_001018079.1|refseq:NP_056455.3|dip:DIP-33819N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:lVkIPRkoXs3B4Qop1pA2zG/RKlo9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P16278 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-989638|uniprotkb:B7Z6B0|intact:EBI-1018741|uniprotkb:P16279|ensembl:ENSP00000306920|ensembl:ENSP00000382333|uniprotkb:B2R7H8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:bgal_human(display_long)|uniprotkb:ELNR1(gene name synonym)|uniprotkb:Acid beta-galactosidase(gene name synonym)|uniprotkb:Elastin receptor 1(gene name synonym)|uniprotkb:GLB1(gene name)|psi-mi:GLB1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000395.2|refseq:NP_001073279.1|refseq:NP_001129074.1|ensembl:ENSG00000170266(gene)|ensembl:ENST00000399402(transcript)|go:"GO:0004565"(beta-galactosidase activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005737"(cytoplasm)|go:"GO:0005773"(vacuole)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0006027"(glycosaminoglycan catabolic process)|go:"GO:0006687"(glycosphingolipid metabolic process)|go:"GO:0016936"(galactoside binding)|go:"GO:0019388"(galactose catabolic process)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0042340"(keratan sulfate catabolic process)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044262"(cellular carbohydrate metabolic process)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051413"(response to cortisone)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904016"(response to Thyroglobulin triiodothyronine)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR001944(Glycoside hydrolase, family 35)|interpro:IPR008979(Galactose-binding like)|interpro:IPR017853(Glycoside hydrolase, catalytic core)|interpro:IPR019801|interpro:IPR025300|interpro:IPR026283|interpro:IPR031330|mint:P16278|rcsb pdb:3THC|rcsb pdb:3THD|rcsb pdb:3WEZ|rcsb pdb:3WF0|rcsb pdb:3WF1|rcsb pdb:3WF2|rcsb pdb:3WF3|rcsb pdb:3WF4|reactome:R-HSA-1660662|reactome:R-HSA-2022857|reactome:R-HSA-2024096|reactome:R-HSA-2206308|reactome:R-HSA-4085001|ensembl:ENST00000307363(transcript)|reactome:R-HSA-4341670|reactome:R-HSA-6798695|refseq:NP_001303969.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:L/REQ2uBBZimHZnDpo3URvdGTdA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H792 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2609701|uniprotkb:Q6ZS78|uniprotkb:Q8TEG7|uniprotkb:Q8NCM3|uniprotkb:Q8NAZ4|ensembl:ENSP00000309230|ensembl:ENSP00000452796|ensembl:ENSP00000507603 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:peak1_human(display_long)|uniprotkb:PEAK1(gene name)|psi-mi:PEAK1(display_short)|uniprotkb:KIAA2002(gene name synonym)|uniprotkb:Sugen kinase 269(gene name synonym)|uniprotkb:Tyrosine-protein kinase SgK269(gene name synonym)|uniprotkb:Pseudopodium-enriched atypical kinase 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011520335.1|refseq:XP_011520336.1|refseq:XP_011520337.1|refseq:XP_011520338.1|refseq:XP_011520339.1|refseq:XP_011520341.1|refseq:XP_011520340.1|refseq:NP_079052.2|refseq:XP_005254727.1|refseq:XP_005254728.1|refseq:XP_005254730.1|refseq:XP_005254731.1|refseq:XP_005254732.1|ensembl:ENSG00000173517(gene)|ensembl:ENST00000312493(transcript)|ensembl:ENST00000560626(transcript)|ensembl:ENST00000682557(transcript)|go:"GO:0004672"(protein kinase activity)|go:"GO:0004715"(non-membrane spanning protein tyrosine kinase activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005925"(focal adhesion)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016477"(cell migration)|go:"GO:0034446"(substrate adhesion-dependent cell spreading)|go:"GO:0042802"(identical protein binding)|go:"GO:0046777"(protein autophosphorylation)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0051893"(regulation of focal adhesion assembly)|interpro:IPR000719(Protein kinase, core)|interpro:IPR008266(Tyrosine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|rcsb pdb:6BHC|reactome:R-HSA-9013420|reactome:R-HSA-9013424|ensembl:ENSP00000309230|ensembl:ENSP00000452796|ensembl:ENSP00000507603|dip:DIP-56276N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:z2Q9mOQSYpc1fQJHovBCFsctX749606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q12905 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357925|uniprotkb:A6NDB0|uniprotkb:Q5SR10|uniprotkb:Q5SR11|uniprotkb:Q7L7R3|uniprotkb:Q9BWD4|uniprotkb:Q9P1N0|uniprotkb:B2R8G7|ensembl:ENSP00000355011 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ilf2_human(display_long)|uniprotkb:PRO3063(orf name)|uniprotkb:NF45(gene name synonym)|uniprotkb:ILF2(gene name)|psi-mi:ILF2(display_short)|uniprotkb:Nuclear factor of activated T-cells 45 kDa(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004506.2|refseq:NP_001254738.1|ensembl:ENSG00000143621(gene)|ensembl:ENST00000361891(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0016020"(membrane)|go:"GO:0035580"(specific granule lumen)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:1904724"(tertiary granule lumen)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR006561(DZF)|interpro:IPR043519|mint:Q12905|reactome:R-HSA-6798695 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HwUDuY6Ev7csoTThxZCW8nJT88o9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P17844 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351962|uniprotkb:O75681|uniprotkb:Q53Y61|uniprotkb:B4DLW8|uniprotkb:E7ETL9|uniprotkb:B5BU21|uniprotkb:D3DU32|ensembl:ENSP00000225792|ensembl:ENSP00000403085|ensembl:ENSP00000463168|ensembl:ENSP00000464337|ensembl:ENSP00000504794 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ddx5_human(display_long)|uniprotkb:HLR1(gene name synonym)|uniprotkb:DDX5(gene name)|psi-mi:DDX5(display_short)|uniprotkb:HELR(gene name synonym)|uniprotkb:G17P1(gene name synonym)|uniprotkb:DEAD box protein 5(gene name synonym)|uniprotkb:RNA helicase p68(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004387.1|refseq:NP_001307524.1|refseq:NP_001307525.1|dip:DIP-29844N|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2001014"(regulation of skeletal muscle cell differentiation)|interpro:IPR000629(RNA helicase, ATP-dependent, DEAD-box, conserved site)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR012587(P68HR)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR014014(RNA helicase, DEAD-box type, Q motif)|interpro:IPR027417|mint:P17844|rcsb pdb:3FE2|rcsb pdb:4A4D|reactome:R-HSA-3899300|reactome:R-HSA-72163|reactome:R-HSA-9018519|reactome:R-HSA-9682706|reactome:R-HSA-9694686|ensembl:ENST00000225792(transcript)|ensembl:ENST00000450599(transcript)|ensembl:ENST00000577922(transcript)|ensembl:ENST00000585111(transcript)|ensembl:ENST00000676785(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000380"(alternative mRNA splicing, via spliceosome)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0000956"(nuclear-transcribed mRNA catabolic process)|go:"GO:0001837"(epithelial to mesenchymal transition)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0009299"(mRNA transcription)|go:"GO:0016020"(membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0030509"(BMP signaling pathway)|go:"GO:0030520"(intracellular estrogen receptor signaling pathway)|go:"GO:0030521"(androgen receptor signaling pathway)|go:"GO:0035500"(MH2 domain binding)|go:"GO:0036002"(pre-mRNA binding)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0043517"(positive regulation of DNA damage response, signal transduction by p53 class mediator)|go:"GO:0045069"(regulation of viral genome replication)|go:"GO:0045445"(myoblast differentiation)|go:"GO:0045667"(regulation of osteoblast differentiation)|go:"GO:0046332"(SMAD binding)|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0048511"(rhythmic process)|go:"GO:0050681"(androgen receptor binding)|go:"GO:0060765"(regulation of androgen receptor signaling pathway)|go:"GO:0061614"(miRNA transcription)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070412"(R-SMAD binding)|go:"GO:0070878"(primary miRNA binding)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:0072332"(intrinsic apoptotic signaling pathway by p53 class mediator)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1903800"(positive regulation of production of miRNAs involved in gene silencing by miRNA)|ensembl:ENSG00000108654(gene) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:BlaILQg90jqkI5+DdA0k5YTCGOo9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P10321 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1051396|uniprotkb:O78067|uniprotkb:O78072|uniprotkb:O78090|uniprotkb:O78149|uniprotkb:Q29921|uniprotkb:Q9UM42|intact:EBI-13916949|uniprotkb:O02863|intact:EBI-6163576|intact:EBI-4400689|intact:EBI-6163558|uniprotkb:O02864|uniprotkb:O02865|uniprotkb:O02866|uniprotkb:O02958|uniprotkb:O19505|uniprotkb:O19652|uniprotkb:O19676|uniprotkb:O62879|uniprotkb:O62882|uniprotkb:O62883|uniprotkb:O62888|uniprotkb:O78060|uniprotkb:O78061|uniprotkb:O78062|uniprotkb:O78063|uniprotkb:O78068|uniprotkb:O78069|uniprotkb:O78083|uniprotkb:O78091|uniprotkb:O78165|uniprotkb:O78166|uniprotkb:O78178|uniprotkb:O78202|uniprotkb:O78203|uniprotkb:O78211|uniprotkb:O78214|uniprotkb:P04222|uniprotkb:P30499|uniprotkb:P30500|uniprotkb:P30501|uniprotkb:P30502|uniprotkb:P30503|uniprotkb:P30504|uniprotkb:P30505|uniprotkb:P30506|uniprotkb:P30507|uniprotkb:P30508|uniprotkb:P30509|uniprotkb:P30510|uniprotkb:P79498|uniprotkb:Q07000|uniprotkb:Q29631|uniprotkb:Q29641|uniprotkb:Q29643|uniprotkb:Q29652|uniprotkb:Q29743|uniprotkb:Q29768|uniprotkb:Q29862|uniprotkb:Q29864|uniprotkb:Q29865|uniprotkb:Q29867|uniprotkb:Q29959|uniprotkb:Q29960|uniprotkb:Q29963|uniprotkb:Q29986|uniprotkb:Q29989|uniprotkb:Q9MY74|uniprotkb:Q9MYI3|uniprotkb:Q9TNN7|uniprotkb:Q9TNZ8|uniprotkb:Q9TPS4|uniprotkb:Q9TPV8|uniprotkb:Q9TPX2|uniprotkb:Q9TQB4|uniprotkb:Q9TQJ5|uniprotkb:Q9TQP9|uniprotkb:Q9UM32|uniprotkb:Q9UM33|uniprotkb:Q9UQS9|uniprotkb:Q29990|uniprotkb:Q29991|uniprotkb:Q29992|uniprotkb:Q29993|uniprotkb:Q30192|uniprotkb:Q31605|uniprotkb:Q31627|uniprotkb:Q9GJ33|uniprotkb:Q9MY30|uniprotkb:Q860R1|uniprotkb:Q860R2|uniprotkb:Q95463|uniprotkb:Q95603|uniprotkb:Q95604|uniprotkb:Q99528|uniprotkb:Q9BD28|uniprotkb:Q9GIK4|uniprotkb:Q9GIK8|intact:EBI-9978491|intact:EBI-3905378|intact:EBI-6163573|intact:EBI-1058803|intact:EBI-13917304|uniprotkb:Q9MY31|uniprotkb:Q9MY35|uniprotkb:Q9MY49|ensembl:ENSP00000365402 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hlac_human(display_long)|uniprotkb:HLA-Cw(gene name synonym)|uniprotkb:Human leukocyte antigen C(gene name synonym)|uniprotkb:HLAC(gene name synonym)|uniprotkb:HLA-C(gene name)|psi-mi:HLA-C(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002108.4|ensembl:ENSG00000204525(gene)|ensembl:ENST00000376228(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0002250"(adaptive immune response)|go:"GO:0002486"(antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006955"(immune response)|go:"GO:0009986"(cell surface)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0016020"(membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0042605"(peptide antigen binding)|go:"GO:0042612"(MHC class I protein complex)|go:"GO:0045087"(innate immune response)|go:"GO:0046977"(TAP binding)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071556"(integral component of lumenal side of endoplasmic reticulum membrane)|interpro:IPR001039(MHC class I, alpha chain, alpha1 and alpha2)|interpro:IPR003597(Immunoglobulin C1-set)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR010579(MHC class I, alpha chain, C-terminal)|interpro:IPR011161(MHC class I-like antigen recognition)|interpro:IPR011162(MHC classes I and II-like antigen recognition)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR037055|mint:P10321|rcsb pdb:1EFX|rcsb pdb:1IM9|rcsb pdb:1QQD|rcsb pdb:3BZF|rcsb pdb:4NT6|rcsb pdb:5VGD|rcsb pdb:5VGE|rcsb pdb:5W67|rcsb pdb:5W69|rcsb pdb:5W6A|rcsb pdb:6JTO|rcsb pdb:6PA1|rcsb pdb:6PAG|reactome:R-HSA-1236974|reactome:R-HSA-1236977|reactome:R-HSA-198933|reactome:R-HSA-2172127|reactome:R-HSA-6798695|reactome:R-HSA-877300|reactome:R-HSA-909733|reactome:R-HSA-983170 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VYYWt9SpNZEuu0jZkdCHEe65lAE9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46781 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351206|uniprotkb:Q4QRK7|uniprotkb:Q9BVZ0|ensembl:ENSP00000302896|ensembl:ENSP00000375632|ensembl:ENSP00000375633|ensembl:ENSP00000478449|ensembl:ENSP00000479917|ensembl:ENSP00000480135|ensembl:ENSP00000480662|ensembl:ENSP00000481194|ensembl:ENSP00000481553|ensembl:ENSP00000481655|ensembl:ENSP00000481764|ensembl:ENSP00000481822|ensembl:ENSP00000482023|ensembl:ENSP00000482274|ensembl:ENSP00000482338|ensembl:ENSP00000482475|ensembl:ENSP00000483179|ensembl:ENSP00000484394|uniprotkb:A9C4C1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs9_human(display_long)|uniprotkb:RPS9(gene name)|psi-mi:RPS9(display_short)|uniprotkb:Small ribosomal subunit protein uS4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001004.2|refseq:NP_001308630.1|refseq:NP_001308631.1|refseq:NP_001308633.1|ensembl:ENSG00000170889(gene)|ensembl:ENSG00000274005(gene)|ensembl:ENSG00000274626(gene)|ensembl:ENSG00000274646(gene)|ensembl:ENSG00000274950(gene)|ensembl:ENSG00000275323(gene)|ensembl:ENSG00000277079(gene)|ensembl:ENSG00000277359(gene)|ensembl:ENSG00000278081(gene)|ensembl:ENSG00000278270(gene)|ensembl:ENST00000302907(transcript)|ensembl:ENST00000391752(transcript)|ensembl:ENST00000391753(transcript)|ensembl:ENST00000610826(transcript)|ensembl:ENST00000610953(transcript)|ensembl:ENST00000611921(transcript)|ensembl:ENST00000614737(transcript)|ensembl:ENST00000615346(transcript)|ensembl:ENST00000616082(transcript)|ensembl:ENST00000616536(transcript)|ensembl:ENST00000616839(transcript)|ensembl:ENST00000616877(transcript)|ensembl:ENST00000616928(transcript)|ensembl:ENST00000617291(transcript)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|ensembl:ENST00000618751(transcript)|go:"GO:0005829"(cytosol)|ensembl:ENST00000619229(transcript)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|ensembl:ENST00000620720(transcript)|ensembl:ENST00000620940(transcript)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0045182"(translation regulator activity)|go:"GO:0045202"(synapse)|go:"GO:0045903"(positive regulation of translational fidelity)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:1990932"(5.8S rRNA binding)|interpro:IPR001912(Ribosomal protein S4)|interpro:IPR002942(RNA-binding S4)|interpro:IPR005710(Ribosomal protein S4/S9, eukaryotic/archaeal)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|interpro:IPR018079|interpro:IPR022801|interpro:IPR036986|mint:P46781|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|go:"GO:0005634"(nucleus)|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|go:"GO:0005654"(nucleoplasm)|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PGNjkKMs8bMMOSOz2AQvwuCvO1A9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:G3V1L9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10969999|ensembl:ENSP00000348416 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:g3v1l9_human(display_long)|uniprotkb:TJP1(gene name)|psi-mi:TJP1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000104067(gene)|ensembl:ENST00000356107(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0030054"(cell junction)|interpro:IPR000906(ZU5)|interpro:IPR001452(Src homology-3)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR005417(Zona occludens protein)|interpro:IPR005418(Zona occludens protein ZO-1)|interpro:IPR008144(Guanylate kinase)|interpro:IPR008145(Guanylate kinase/L-type calcium channel region)|interpro:IPR027417|interpro:IPR035597|interpro:IPR036028|interpro:IPR036034|refseq:NP_001317168.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JBbFQ8e+Bwgp1srXtX4HCReBVkU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P10619 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-989654|uniprotkb:Q9BW68|uniprotkb:Q561W6|uniprotkb:Q5JZH1|uniprotkb:Q96KJ2|uniprotkb:Q9BR08|ensembl:ENSP00000361537|ensembl:ENSP00000475524|ensembl:ENSP00000493613|ensembl:ENSP00000191018|uniprotkb:B2R798 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ppgb_human(display_long)|uniprotkb:Cathepsin A(gene name synonym)|uniprotkb:Carboxypeptidase C(gene name synonym)|uniprotkb:Protective protein for beta-galactosidase(gene name synonym)|uniprotkb:CTSA(gene name)|psi-mi:CTSA(display_short)|uniprotkb:PPGB(gene name synonym)|uniprotkb:Carboxypeptidase L(gene name synonym)|uniprotkb:Protective protein cathepsin A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000064601(gene)|interpro:IPR001563(Peptidase S10, serine carboxypeptidase)|interpro:IPR018202|interpro:IPR029058|interpro:IPR033124|rcsb pdb:1IVY|rcsb pdb:3BP4|rcsb pdb:3BP7|rcsb pdb:3BXN|rcsb pdb:4AZ0|rcsb pdb:4AZ3|rcsb pdb:4CI9|rcsb pdb:4CIA|rcsb pdb:4CIB|rcsb pdb:4MWS|rcsb pdb:4MWT|rcsb pdb:6WIA|reactome:R-HSA-1660662|reactome:R-HSA-2132295|reactome:R-HSA-4085001|reactome:R-HSA-4341670|reactome:R-HSA-6798695|ensembl:ENST00000191018(transcript)|ensembl:ENST00000372459(transcript)|ensembl:ENST00000607482(transcript)|ensembl:ENST00000646241(transcript)|go:"GO:0004180"(carboxypeptidase activity)|go:"GO:0004185"(serine-type carboxypeptidase activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0006508"(proteolysis)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0008047"(enzyme activator activity)|go:"GO:0016020"(membrane)|go:"GO:0031647"(regulation of protein stability)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904714"(regulation of chaperone-mediated autophagy)|go:"GO:1904715"(negative regulation of chaperone-mediated autophagy)|refseq:NP_000299.2|refseq:NP_001161066.1|refseq:NP_001121167.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:l/CZaKjZTuZu1ROoJJZVsxobYrQ9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35613 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-750709|uniprotkb:Q7Z796|uniprotkb:Q8IZL7|intact:EBI-2553051|uniprotkb:A6NJW1|uniprotkb:D3YLG5|ensembl:ENSP00000333769 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:basi_human(display_long)|uniprotkb:Leukocyte activation antigen M6(gene name synonym)|uniprotkb:Collagenase stimulatory factor(gene name synonym)|uniprotkb:Extracellular matrix metalloproteinase inducer(gene name synonym)|uniprotkb:5F7(gene name synonym)|uniprotkb:Tumor cell-derived collagenase stimulatory factor(gene name synonym)|uniprotkb:OK blood group antigen(gene name synonym)|uniprotkb:BSG(gene name)|psi-mi:BSG(display_short)|uniprotkb:UNQ6505/PRO21383(orf name)|uniprotkb:Hepatoma-associated antigen(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001719.2|refseq:NP_940991.1|refseq:NP_940993.1|refseq:NP_001309172.1|refseq:NP_940992.1|refseq:XP_016882662.1|dip:DIP-50310N|ensembl:ENSG00000172270(gene)|ensembl:ENST00000333511(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001525"(angiogenesis)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001750"(photoreceptor outer segment)|go:"GO:0001917"(photoreceptor inner segment)|go:"GO:0002080"(acrosomal membrane)|go:"GO:0003407"(neural retina development)|go:"GO:0005537"(mannose binding)|go:"GO:0005739"(mitochondrion)|go:"GO:0005768"(endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007156"(homophilic cell adhesion via plasma membrane adhesion molecules)|go:"GO:0007166"(cell surface receptor signaling pathway)|go:"GO:0007411"(axon guidance)|go:"GO:0007566"(embryo implantation)|go:"GO:0010575"(positive regulation of vascular endothelial growth factor production)|go:"GO:0010595"(positive regulation of endothelial cell migration)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0030424"(axon)|go:"GO:0030593"(neutrophil chemotaxis)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042383"(sarcolemma)|go:"GO:0042470"(melanosome)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043434"(response to peptide hormone)|go:"GO:0045121"(membrane raft)|go:"GO:0045296"(cadherin binding)|go:"GO:0045494"(photoreceptor cell maintenance)|go:"GO:0046598"(positive regulation of viral entry into host cell)|go:"GO:0046689"(response to mercury ion)|go:"GO:0046697"(decidualization)|go:"GO:0051591"(response to cAMP)|go:"GO:0061154"(endothelial tube morphogenesis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070593"(dendrite self-avoidance)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0098632"(cell-cell adhesion mediator activity)|go:"GO:1904466"(positive regulation of matrix metallopeptidase secretion)|interpro:IPR003598(Immunoglobulin subtype 2)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR043204|interpro:IPR044157|mint:P35613|rcsb pdb:3B5H|rcsb pdb:3I84|rcsb pdb:3I85|rcsb pdb:3QQN|rcsb pdb:4U0Q|rcsb pdb:5X0T|rcsb pdb:5XF0|rcsb pdb:6LYY|rcsb pdb:6LZ0|rcsb pdb:7CKO|rcsb pdb:7CKR|rcsb pdb:7DA5|reactome:R-HSA-1474228|reactome:R-HSA-210991|reactome:R-HSA-216083|reactome:R-HSA-433692|reactome:R-HSA-5619070|reactome:R-HSA-70268|rcsb pdb:3QR2 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:jVbDR+TKBzTjXoxR4At6XQg59ZA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P55072 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355164|uniprotkb:Q969G7|uniprotkb:Q9UCD5|uniprotkb:B2R5T8|uniprotkb:Q0V924|uniprotkb:Q2TAI5|intact:EBI-1046421|ensembl:ENSP00000351777 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tera_human(display_long)|uniprotkb:VCP(gene name)|psi-mi:VCP(display_short)|uniprotkb:"15S Mg(2+)-ATPase p97 subunit"(gene name synonym)|uniprotkb:Valosin-containing protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_009057.1|rcsb pdb:7BPA|rcsb pdb:7BPB|rcsb pdb:7JY5|reactome:R-HSA-110320|reactome:R-HSA-3371511|reactome:R-HSA-382556|reactome:R-HSA-532668|reactome:R-HSA-5358346|reactome:R-HSA-5362768|reactome:R-HSA-5678895|reactome:R-HSA-5689877|reactome:R-HSA-5689896|reactome:R-HSA-6798695|reactome:R-HSA-8866654|reactome:R-HSA-8876725|reactome:R-HSA-9013407|reactome:R-HSA-9646399|reactome:R-HSA-9678110|reactome:R-HSA-9694614|rcsb pdb:7BP9|go:"GO:0032510"(endosome to lysosome transport via multivesicular body sorting pathway)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034098"(VCP-NPL4-UFD1 AAA ATPase complex)|go:"GO:0034605"(cellular response to heat)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0035617"(stress granule disassembly)|go:"GO:0035800"(deubiquitinase activator activity)|go:"GO:0035861"(site of double-strand break)|go:"GO:0036297"(interstrand cross-link repair)|go:"GO:0036435"(K48-linked polyubiquitin modification-dependent protein binding)|go:"GO:0036503"(ERAD pathway)|go:"GO:0036513"(Derlin-1 retrotranslocation complex)|go:"GO:0042288"(MHC class I protein binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043161"(proteasome-mediated ubiquitin-dependent protein catabolic process)|go:"GO:0032436"(positive regulation of proteasomal ubiquitin-dependent protein catabolic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043531"(ADP binding)|go:"GO:0044389"(ubiquitin-like protein ligase binding)|go:"GO:0045184"(establishment of protein localization)|go:"GO:0045732"(positive regulation of protein catabolic process)|go:"GO:0045879"(negative regulation of smoothened signaling pathway)|go:"GO:0046034"(ATP metabolic process)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050807"(regulation of synapse organization)|go:"GO:0051228"(mitotic spindle disassembly)|go:"GO:0061857"(endoplasmic reticulum stress-induced pre-emptive quality control)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070842"(aggresome assembly)|go:"GO:0071712"(ER-associated misfolded protein catabolic process)|go:"GO:0072389"(flavin adenine dinucleotide catabolic process)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0097352"(autophagosome maturation)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0106300"(protein-DNA covalent cross-linking repair)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1903006"(positive regulation of protein K63-linked deubiquitination)|go:"GO:1903007"(positive regulation of Lys63-specific deubiquitinase activity)|go:"GO:1903715"(regulation of aerobic respiration)|go:"GO:1903843"(cellular response to arsenite ion)|go:"GO:1903862"(positive regulation of oxidative phosphorylation)|go:"GO:1904288"(BAT3 complex binding)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1904949"(ATPase complex)|go:"GO:1905634"(regulation of protein localization to chromatin)|go:"GO:1990381"(ubiquitin-specific protease binding)|go:"GO:1990730"(VCP-NSFL1C complex)|go:"GO:2001171"(positive regulation of ATP biosynthetic process)|interpro:IPR003338(AAA ATPase VAT, N-terminal)|interpro:IPR003593(AAA+ ATPase, core)|ensembl:ENSG00000165280(gene)|ensembl:ENST00000358901(transcript)|go:"GO:0000502"(proteasome complex)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005811"(lipid droplet)|go:"GO:0005829"(cytosol)|go:"GO:0006281"(DNA repair)|go:"GO:0006302"(double-strand break repair)|go:"GO:0006734"(NADH metabolic process)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0006919"(activation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0008289"(lipid binding)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0010498"(proteasomal protein catabolic process)|go:"GO:0010918"(positive regulation of mitochondrial membrane potential)|go:"GO:0016236"(macroautophagy)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0019079"(viral genome replication)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0019985"(translesion synthesis)|go:"GO:0030433"(ubiquitin-dependent ERAD pathway)|go:"GO:0030968"(endoplasmic reticulum unfolded protein response)|go:"GO:0030970"(retrograde protein transport, ER to cytosol)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0031593"(polyubiquitin modification-dependent protein binding)|go:"GO:0031625"(ubiquitin protein ligase binding)|interpro:IPR003959(AAA ATPase, core)|interpro:IPR003960(AAA ATPase, conserved site)|interpro:IPR004201(Cell division protein 48, CDC48, domain 2)|interpro:IPR005938(AAA ATPase, CDC48)|interpro:IPR009010(Aspartate decarboxylase-like fold)|interpro:IPR015415(Vps4 oligomerisation, C-terminal)|interpro:IPR027417|interpro:IPR029067|interpro:IPR041569|mint:P55072|rcsb pdb:3EBB|rcsb pdb:3HU1|rcsb pdb:3HU2|rcsb pdb:3HU3|rcsb pdb:3QC8|rcsb pdb:3QQ7|rcsb pdb:3QQ8|rcsb pdb:3QWZ|rcsb pdb:3TIW|rcsb pdb:4KDI|rcsb pdb:4KDL|rcsb pdb:4KLN|rcsb pdb:4KO8|rcsb pdb:4KOD|rcsb pdb:4P0A|rcsb pdb:5B6C|rcsb pdb:5C18|rcsb pdb:5C19|rcsb pdb:5C1A|rcsb pdb:5C1B|rcsb pdb:5DYG|rcsb pdb:5DYI|rcsb pdb:5EPP|rcsb pdb:5FTJ|rcsb pdb:5FTK|rcsb pdb:5FTL|rcsb pdb:5FTM|rcsb pdb:5FTN|rcsb pdb:5GLF|rcsb pdb:5IFS|rcsb pdb:5IFW|rcsb pdb:5KIW|rcsb pdb:5KIY|rcsb pdb:5X4L|rcsb pdb:6G2V|rcsb pdb:6G2W|rcsb pdb:6G2X|rcsb pdb:6G2Y|rcsb pdb:6G2Z|rcsb pdb:6G30|rcsb pdb:6HD0|rcsb pdb:6MCK|rcsb pdb:7BP8|dip:DIP-33543N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HrjDhdsDcgaf8HEbqqMjUqxPaEs9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62879 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356942|uniprotkb:P54312|uniprotkb:P11016|uniprotkb:B3KPU1|ensembl:ENSP00000305260|ensembl:ENSP00000377501|ensembl:ENSP00000377503 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gbb2_human(display_long)|uniprotkb:GNB2(gene name)|psi-mi:GNB2(display_short)|uniprotkb:Transducin beta chain 2(gene name synonym)|uniprotkb:G protein subunit beta-2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005264.2|go:"GO:0031682"(G-protein gamma-subunit binding)|go:"GO:0031982"(vesicle)|go:"GO:0044297"(cell body)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051020"(GTPase binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001632(G-protein, beta subunit)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR016346(Guanine nucleotide-binding protein, beta subunit)|interpro:IPR019775|interpro:IPR020472|interpro:IPR036322|mint:P62879|reactome:R-HSA-1296041|reactome:R-HSA-163359|reactome:R-HSA-202040|reactome:R-HSA-381676|reactome:R-HSA-392170|reactome:R-HSA-392451|reactome:R-HSA-392851|reactome:R-HSA-400042|reactome:R-HSA-4086398|reactome:R-HSA-416476|reactome:R-HSA-416482|reactome:R-HSA-418217|reactome:R-HSA-418555|reactome:R-HSA-418592|reactome:R-HSA-418594|reactome:R-HSA-418597|reactome:R-HSA-420092|reactome:R-HSA-428930|reactome:R-HSA-432040|reactome:R-HSA-456926|reactome:R-HSA-500657|reactome:R-HSA-6814122|reactome:R-HSA-8964315|reactome:R-HSA-8964616|reactome:R-HSA-9009391|reactome:R-HSA-9660821|reactome:R-HSA-997272|go:"GO:0016020"(membrane)|ensembl:ENSG00000172354(gene)|ensembl:ENST00000303210(transcript)|ensembl:ENST00000393924(transcript)|ensembl:ENST00000393926(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005246"(calcium channel regulator activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005834"(heterotrimeric G-protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0007186"(G protein-coupled receptor signaling pathway) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dingPUxdpAhe7UMLquv0eqXNtUM9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P19474 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-81290|uniprotkb:Q96RF8|uniprotkb:Q5XPV5|ensembl:ENSP00000254436 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ro52_human(display_long)|uniprotkb:TRIM21(gene name)|psi-mi:TRIM21(display_short)|uniprotkb:RNF81(gene name synonym)|uniprotkb:Sjoegren syndrome type A antigen(gene name synonym)|uniprotkb:"Ro(SS-A)"(gene name synonym)|uniprotkb:52 kDa ribonucleoprotein autoantigen Ro/SS-A(gene name synonym)|uniprotkb:Tripartite motif-containing protein 21(gene name synonym)|uniprotkb:RING finger protein 81(gene name synonym)|uniprotkb:52 kDa Ro protein(gene name synonym)|uniprotkb:RO52(gene name synonym)|uniprotkb:SSA1(gene name synonym)|uniprotkb:RING-type E3 ubiquitin transferase TRIM21(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003132.2|go:"GO:0019901"(protein kinase binding)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031648"(protein destabilization)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0032092"(positive regulation of protein binding)|go:"GO:0032479"(regulation of type I interferon production)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0032897"(negative regulation of viral transcription)|go:"GO:0034341"(response to interferon-gamma)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0045087"(innate immune response)|go:"GO:0045787"(positive regulation of cell cycle)|go:"GO:0045824"(negative regulation of innate immune response)|go:"GO:0046596"(regulation of viral entry into host cell)|go:"GO:0046598"(positive regulation of viral entry into host cell)|go:"GO:0051091"(positive regulation of DNA-binding transcription factor activity)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051865"(protein autoubiquitination)|go:"GO:0061630"(ubiquitin protein ligase activity)|go:"GO:0070534"(protein K63-linked ubiquitination)|go:"GO:0090086"(negative regulation of protein deubiquitination)|ensembl:ENSG00000132109(gene)|ensembl:ENST00000254436(transcript)|go:"GO:0000209"(protein polyubiquitination)|go:"GO:0000932"(P-body)|go:"GO:0003677"(DNA binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0004842"(ubiquitin-protein transferase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005776"(autophagosome)|go:"GO:0005829"(cytosol)|go:"GO:0006513"(protein monoubiquitination)|go:"GO:0007049"(cell cycle)|go:"GO:0008270"(zinc ion binding)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0010508"(positive regulation of autophagy)|go:"GO:0016567"(protein ubiquitination)|interpro:IPR006574(SPRY-associated)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR017907|interpro:IPR020457|interpro:IPR035831|interpro:IPR043136|mint:P19474|rcsb pdb:2IWG|rcsb pdb:5JPX|rcsb pdb:5OLM|rcsb pdb:6FGA|rcsb pdb:6S53|rcsb pdb:7BBD|reactome:R-HSA-1834941|reactome:R-HSA-3134975|reactome:R-HSA-877300|reactome:R-HSA-983168|go:"GO:1902187"|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000315(Zinc finger, B-box)|interpro:IPR001841(Zinc finger, RING-type)|interpro:IPR001870("B302 (SPRY)-like")|interpro:IPR003613(U box)|interpro:IPR003877(SPla/RYanodine receptor SPRY)|interpro:IPR003879(Butyrophylin-like) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/9rpwdudXQWv8z8JLmRecXf3YQM9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13555 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1383465|uniprotkb:O00561|uniprotkb:Q5SWX4|uniprotkb:Q8NIA4|uniprotkb:O15378|uniprotkb:Q13556|uniprotkb:Q5SQZ3|uniprotkb:Q5SQZ4|uniprotkb:Q8N4I3|uniprotkb:Q13279|uniprotkb:Q13282|uniprotkb:Q7KYX5|uniprotkb:A0A0A0MS52|uniprotkb:A0A0A0MT11 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:kcc2g_human(display_long)|uniprotkb:CAMK(gene name synonym)|uniprotkb:CAMK-II(gene name synonym)|uniprotkb:CAMK2G(gene name)|psi-mi:CAMK2G(display_short)|uniprotkb:CAMKG(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001213.2|refseq:NP_751909.1|refseq:NP_751913.1|refseq:XP_005270260.1|refseq:NP_001307827.1|refseq:NP_001191421.1|dip:DIP-51315N|mint:Q13555|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-877300|reactome:R-HSA-9022692|reactome:R-HSA-936837|reactome:R-HSA-9609736|reactome:R-HSA-9617324|reactome:R-HSA-9620244|reactome:R-HSA-9649948|reactome:R-HSA-9656223|go:"GO:0004683"(calmodulin-dependent protein kinase activity)|go:"GO:0004723"(calcium-dependent protein serine/threonine phosphatase activity)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005954"(calcium- and calmodulin-dependent protein kinase complex)|go:"GO:0007399"(nervous system development)|go:"GO:0010975"(regulation of neuron projection development)|go:"GO:0014733"(regulation of skeletal muscle adaptation)|go:"GO:0016020"(membrane)|go:"GO:0030073"(insulin secretion)|go:"GO:0030154"(cell differentiation)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0033017"(sarcoplasmic reticulum membrane)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043005"(neuron projection)|go:"GO:0051924"(regulation of calcium ion transport)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|interpro:IPR000719(Protein kinase, core)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR013543(Calcium/calmodulin dependent protein kinase II, association-domain)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR032710|rcsb pdb:2UX0|rcsb pdb:2V7O|reactome:R-HSA-111932|reactome:R-HSA-3371571|reactome:R-HSA-399719|reactome:R-HSA-438066|reactome:R-HSA-442729|reactome:R-HSA-442982|reactome:R-HSA-5576892|reactome:R-HSA-5578775|reactome:R-HSA-5673000|reactome:R-HSA-5673001|reactome:R-HSA-6802946 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qtCEps5UkV7tprB2QmjCDK5YyIo9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y608 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1023718|uniprotkb:Q68CV3|uniprotkb:Q9NXH5|uniprotkb:A8K649|uniprotkb:A8MXR0|uniprotkb:B4DY63|ensembl:ENSP00000338727 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lrrf2_human(display_long)|uniprotkb:LRRFIP2(gene name)|psi-mi:LRRFIP2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001127841.1|refseq:NP_006300.1|refseq:NP_060194.1|refseq:XP_011532519.1|refseq:XP_011532520.1|refseq:XP_011532521.1|refseq:NP_001269620.1|ensembl:ENSG00000093167(gene)|ensembl:ENST00000336686(transcript)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0030275"(LRR domain binding)|interpro:IPR019139|mint:Q9Y608|refseq:XP_005265596.1|refseq:XP_005265597.1|refseq:XP_016862973.1|refseq:NP_001335239.1|refseq:NP_001335240.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ma/crL7UY91uJ8bqLfkX3K8aQLI9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NY12 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2510382|ensembl:ENSP00000226796|ensembl:ENSP00000378127|uniprotkb:Q5MJQ2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gar1_human(display_long)|uniprotkb:GAR1(gene name)|psi-mi:GAR1(display_short)|uniprotkb:NOLA1(gene name synonym)|uniprotkb:snoRNP protein GAR1(gene name synonym)|uniprotkb:Nucleolar protein family A member 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000109534(gene)|ensembl:ENST00000226796(transcript)|ensembl:ENST00000394631(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005697"(telomerase holoenzyme complex)|go:"GO:0007004"(telomere maintenance via telomerase)|go:"GO:0031429"(box H/ACA snoRNP complex)|go:"GO:0034513"(box H/ACA snoRNA binding)|go:"GO:0070034"(telomerase RNA binding)|go:"GO:0072589"(box H/ACA scaRNP complex)|go:"GO:0090661"(box H/ACA telomerase RNP complex)|interpro:IPR007504(Gar1 protein RNA-binding region)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR038664|mint:Q9NY12|rcsb pdb:7BGB|reactome:R-HSA-171319|go:"GO:0000454"(snoRNA guided rRNA pseudouridine synthesis)|reactome:R-HSA-6790901|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0001650"(fibrillar center)|go:"GO:0003723"(RNA binding)|refseq:NP_061856.1|refseq:NP_127460.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:voLJvYfWyMWtTf0VSd7XeY3psC09606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q02878 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-359655|uniprotkb:Q2M3Q3|uniprotkb:Q8WW97|ensembl:ENSP00000202773|ensembl:ENSP00000403172 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl6_human(display_long)|uniprotkb:RPL6(gene name)|psi-mi:RPL6(display_short)|uniprotkb:TXREB1(gene name synonym)|uniprotkb:Tax-responsive enhancer element-binding protein 107(gene name synonym)|uniprotkb:Neoplasm-related protein C140(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL6(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000961.2|refseq:NP_001019833.1|ensembl:ENSG00000089009(gene)|ensembl:ENST00000202773(transcript)|ensembl:ENST00000424576(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045296"(cadherin binding)|interpro:IPR000915(Ribosomal protein L6E)|interpro:IPR005568(Ribosomal protein L6, N-terminal)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR041997|mint:Q02878|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_001307066.1|refseq:NP_001307067.1|refseq:NP_001307068.1|refseq:NP_001307069.1|refseq:NP_001307070.1|refseq:XP_016875270.1|refseq:XP_016875271.1|dip:DIP-27547N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Y7fx3ToInzucV2QmI8KLSdHxai09606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KTE4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044197|ensembl:ENSP00000462938|ensembl:ENSP00000464538 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3kte4_human(display_long)|uniprotkb:RPL19(gene name)|psi-mi:RPL19(display_short)|uniprotkb:hCG_31402(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000108298(gene)|ensembl:ENST00000579260(transcript)|ensembl:ENST00000582193(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|interpro:IPR000196(Ribosomal protein L19/L19e)|interpro:IPR015972(Ribosomal protein L19/L19e, domain 1)|interpro:IPR023638|interpro:IPR033935|interpro:IPR035970|interpro:IPR039547|refseq:NP_001317129.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dWWvlwafnDx2VZf33AQNK2OYgZ89606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8WWI1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350367|uniprotkb:O15462|uniprotkb:O95346|uniprotkb:Q9UKC1|uniprotkb:Q9UQM5|uniprotkb:Q9Y6A7|uniprotkb:Q5TBK6|uniprotkb:E9PLH4 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lmo7_human(display_long)|uniprotkb:LMO7(gene name)|psi-mi:LMO7(display_short)|uniprotkb:FBX20(gene name synonym)|uniprotkb:FBXO20(gene name synonym)|uniprotkb:KIAA0858(gene name synonym)|uniprotkb:F-box only protein 20(gene name synonym)|uniprotkb:LOMP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005349.3|refseq:NP_056667.2|refseq:NP_001293009.1|go:"GO:0004842"(ubiquitin-protein transferase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0009986"(cell surface)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0023051"(regulation of signaling)|go:"GO:0030155"(regulation of cell adhesion)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR001715(Calponin-like actin-binding)|go:"GO:0000151"(ubiquitin ligase complex)|interpro:IPR001781(Zinc finger, LIM-type)|interpro:IPR003096(SM22/calponin)|interpro:IPR029978|interpro:IPR031865|interpro:IPR036034|interpro:IPR036872|rcsb pdb:2EAQ|reactome:R-HSA-8951664|reactome:R-HSA-983168|ensembl:ENST00000341547|ensembl:ENSP00000342112|ensembl:ENSG00000136153|refseq:NP_001317512.1|mint:Q8WWI1|dip:DIP-33107N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:d8c3oZaqaloIUBqxgvpNI3PP2fU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5T123 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044486|ensembl:ENSP00000363358 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:q5t123_human(display_long)|uniprotkb:SH3BGRL3(gene name)|psi-mi:SH3BGRL3(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000142669(gene)|ensembl:ENST00000319041(transcript)|go:"GO:0016604"(nuclear body)|interpro:IPR006993(SH3-binding, glutamic acid-rich protein)|interpro:IPR036249 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VEP2h1cViK1rlIRDlUivO6IGCFc9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BPX5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-711189|ensembl:ENSP00000259477|ensembl:ENSP00000345361|uniprotkb:Q7Z523 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arp5l_human(display_long)|uniprotkb:Arp2/3 complex 16 kDa subunit 2(gene name synonym)|uniprotkb:ARPC5L(gene name)|psi-mi:ARPC5L(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_112240.1|ensembl:ENSG00000136950(gene)|ensembl:ENST00000259477(transcript)|ensembl:ENST00000353214(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0016477"(cell migration)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098978"(glutamatergic synapse)|interpro:IPR006789("ARP2/3 complex 16 kDa subunit (p16-Arc)")|interpro:IPR030075|interpro:IPR036743|mint:Q9BPX5|rcsb pdb:6YW6|dip:DIP-50399N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JVproBu8rIrnlk39yXPC+ZrvoOk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:A8MUD9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11602746|ensembl:ENSP00000379729|ensembl:ENSP00000379730|ensembl:ENSP00000379731 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:a8mud9_human(display_long)|uniprotkb:RPL7(gene name)|psi-mi:RPL7(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_006716526.1|ensembl:ENSG00000147604(gene)|ensembl:ENST00000396465(transcript)|ensembl:ENST00000396466(transcript)|ensembl:ENST00000396467(transcript)|go:"GO:0000463"("maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0022625"(cytosolic large ribosomal subunit)|interpro:IPR005998(Ribosomal protein L7, eukaryotic)|interpro:IPR012988(Ribosomal protein L30, N-terminal)|interpro:IPR016082(Ribosomal protein L30, C-terminal)|interpro:IPR018038|interpro:IPR035808|interpro:IPR036919|interpro:IPR039699 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZPGgv6gGXRetikv7sN95EYHryY89606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0R0F0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25617677|ensembl:ENSP00000471185 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0r0f0_human(display_long)|uniprotkb:RPS5(gene name)|psi-mi:RPS5(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000083845(gene)|ensembl:ENST00000596314(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|interpro:IPR000235(Ribosomal protein S7)|interpro:IPR005716(Ribosomal protein S7, eukaryotic/archaeal)|interpro:IPR020606|interpro:IPR023798|interpro:IPR036823 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3ceaJ1M9KY7/jKixP6YofUX1ivc9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P39019 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354451|ensembl:ENSP00000469228|ensembl:ENSP00000470004|ensembl:ENSP00000470972 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs19_human(display_long)|uniprotkb:RPS19(gene name)|psi-mi:RPS19(display_short)|uniprotkb:Small ribosomal subunit protein eS19(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001013.1|ensembl:ENSG00000105372(gene)|ensembl:ENST00000593863(transcript)|ensembl:ENST00000598742(transcript)|go:"GO:0000028"(ribosomal small subunit assembly)|go:"GO:0000462"("maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0002548"(monocyte chemotaxis)|go:"GO:0003723"(RNA binding)|ensembl:ENST00000600467(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0007000"(nucleolus organization)|go:"GO:0009991"(response to extracellular stimulus)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0017134"(fibroblast growth factor binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0030490"(maturation of SSU-rRNA)|go:"GO:0031640"(killing of cells of another organism)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042802"(identical protein binding)|go:"GO:0050829"(defense response to Gram-negative bacterium)|go:"GO:0051272"(positive regulation of cellular component movement)|go:"GO:0060265"(positive regulation of respiratory burst involved in inflammatory response)|go:"GO:0060266"(negative regulation of respiratory burst involved in inflammatory response)|go:"GO:0061844"(antimicrobial humoral immune response mediated by antimicrobial peptide)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001266(Ribosomal protein S19e)|interpro:IPR018277|interpro:IPR036388|interpro:IPR036390|mint:P39019|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_001308412.1|refseq:NP_001308413.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3YqdJJJG+2nqoBf3PLu1fs7pVkY9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68366 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351772|uniprotkb:A8MUB1|uniprotkb:P05215|ensembl:ENSP00000248437|uniprotkb:B3KNQ6|intact:EBI-11134566 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tba4a_human(display_long)|uniprotkb:TUBA4A(gene name)|psi-mi:TUBA4A(display_short)|uniprotkb:Tubulin alpha-1 chain(gene name synonym)|uniprotkb:Alpha-tubulin 1(gene name synonym)|uniprotkb:Testis-specific alpha-tubulin(gene name synonym)|uniprotkb:Tubulin H2-alpha(gene name synonym)|uniprotkb:TUBA1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005991.1|ensembl:ENSG00000127824(gene)|ensembl:ENST00000248437(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005874"(microtubule)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0019901"(protein kinase binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002452(Alpha tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P68366|reactome:R-HSA-114608|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-2565942|reactome:R-HSA-3371497|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620912|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8854518|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|refseq:NP_001265481.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6Oj9O8u7E6cLUJ1eT6y5slbk7uQ9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P48634 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-347545|uniprotkb:Q05BK4|uniprotkb:Q4LE37|uniprotkb:Q8MGQ9|uniprotkb:O95875|uniprotkb:Q5SQ29|uniprotkb:Q5SQ30|uniprotkb:Q5ST84|uniprotkb:Q5STX6|uniprotkb:Q5STX7|uniprotkb:Q68DW9|uniprotkb:Q6P9P7|uniprotkb:Q6PIN1|uniprotkb:Q96QC6|uniprotkb:B0UZL3|uniprotkb:B0UZE9|uniprotkb:B0UX77|ensembl:ENSP00000365175|ensembl:ENSP00000365201|ensembl:ENSP00000372947|ensembl:ENSP00000372956|ensembl:ENSP00000387477|ensembl:ENSP00000387910|ensembl:ENSP00000396812|ensembl:ENSP00000400540|ensembl:ENSP00000404619|ensembl:ENSP00000408226|ensembl:ENSP00000409444|ensembl:ENSP00000413977|ensembl:ENSP00000415182|ensembl:ENSP00000415363 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:prc2a_human(display_long)|uniprotkb:HLA-B-associated transcript 2(gene name synonym)|uniprotkb:PRRC2A(gene name)|psi-mi:PRRC2A(display_short)|uniprotkb:G2(gene name synonym)|uniprotkb:Protein G2(gene name synonym)|uniprotkb:BAT2(gene name synonym)|uniprotkb:Large proline-rich protein BAT2(gene name synonym)|uniprotkb:Proline-rich and coiled-coil-containing protein 2A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_542417.2|refseq:NP_004629.3|ensembl:ENSP00000372956|ensembl:ENSP00000404619|ensembl:ENSP00000415182|ensembl:ENSP00000415363|ensembl:ENSP00000387910|ensembl:ENSP00000413977|ensembl:ENSP00000408226|ensembl:ENSP00000409444|ensembl:ENSP00000400540|ensembl:ENSP00000387477|ensembl:ENSP00000396812|ensembl:ENSP00000365175|ensembl:ENSP00000365201|ensembl:ENSP00000372947|ensembl:ENSG00000204469(gene)|ensembl:ENSG00000206427(gene)|ensembl:ENSG00000225164(gene)|ensembl:ENSG00000225748(gene)|ensembl:ENSG00000226618(gene)|ensembl:ENSG00000231370(gene)|ensembl:ENSG00000231825(gene)|ensembl:ENST00000376007(transcript)|ensembl:ENST00000376033(transcript)|ensembl:ENST00000383455(transcript)|ensembl:ENST00000383464(transcript)|ensembl:ENST00000414956(transcript)|ensembl:ENST00000416335(transcript)|ensembl:ENST00000422962(transcript)|ensembl:ENST00000428775(transcript)|ensembl:ENST00000430737(transcript)|ensembl:ENST00000432252(transcript)|ensembl:ENST00000435971(transcript)|ensembl:ENST00000439762(transcript)|ensembl:ENST00000454306(transcript)|ensembl:ENST00000458561(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0016020"(membrane)|go:"GO:0030154"(cell differentiation)|go:"GO:0070062"(extracellular exosome)|interpro:IPR009738(BAT2, N-terminal)|interpro:IPR033184|mint:P48634 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6XZhA7FHJ4ckoWPf1yI/OnaNwjo9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P05387 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352813|ensembl:ENSP00000322419|ensembl:ENSP00000431240|uniprotkb:Q6FG96 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rla2_human(display_long)|uniprotkb:RPLP2(gene name)|psi-mi:RPLP2(display_short)|uniprotkb:RPP2(gene name synonym)|uniprotkb:D11S2243E(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-44(gene name synonym)|uniprotkb:Large ribosomal subunit protein P2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000177600(gene)|ensembl:ENST00000321153(transcript)|ensembl:ENST00000530797(transcript)|go:"GO:0002182"(cytoplasmic translational elongation)|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-72689|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|interpro:IPR027534|interpro:IPR038716|interpro:IPR044076|mint:P05387|rcsb pdb:1S4J|rcsb pdb:2JDL|rcsb pdb:2LBF|rcsb pdb:2W1O|rcsb pdb:4BEH|rcsb pdb:4V6X|rcsb pdb:5DDZ|rcsb pdb:5GU4|go:"GO:0003735"(structural constituent of ribosome)|reactome:R-HSA-156827|reactome:R-HSA-156902|refseq:NP_000995.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IBI+x82JJYg66MPhGKw1/pI/bQA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H3BPE1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11017948|ensembl:ENSP00000455274 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h3bpe1_human(display_long)|uniprotkb:MACF1(gene name)|psi-mi:MACF1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000127603(gene)|go:"GO:0003779"(actin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0008017"(microtubule binding)|go:"GO:0016020"(membrane)|go:"GO:0042995"(cell projection)|go:"GO:0045104"(intermediate filament cytoskeleton organization)|interpro:IPR001101(Plectin repeat)|interpro:IPR001452(Src homology-3)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR003108(Growth-arrest-specific protein 2)|interpro:IPR011992(EF-Hand type)|interpro:IPR018159|interpro:IPR018247|interpro:IPR035915|interpro:IPR036534|interpro:IPR036872|interpro:IPR041573|interpro:IPR041615|interpro:IPR043197|ensembl:ENST00000564288(transcript) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Tbj2Vjo+mBjKq45T/hWeiwxKC6c9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62753 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356625|uniprotkb:P08227|uniprotkb:P10660|uniprotkb:Q4VBY7|uniprotkb:Q8N6Z7|ensembl:ENSP00000369757 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs6_human(display_long)|uniprotkb:RPS6(gene name)|psi-mi:RPS6(display_short)|uniprotkb:Phosphoprotein NP33(gene name synonym)|uniprotkb:Small ribosomal subunit protein eS6(gene name synonym)|uniprotkb:OK/SW-cl.2(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001001.2|reactome:R-HSA-166208|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|interpro:IPR014401(Ribosomal protein S6, eukaryotic)|interpro:IPR018282|mint:P62753|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6F4P|rcsb pdb:6F4Q|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|ensembl:ENSG00000137154(gene)|ensembl:ENST00000380394(transcript)|go:"GO:0000082"(G1/S transition of mitotic cell cycle)|go:"GO:0001890"(placenta development)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0002309"(T cell proliferation involved in immune response)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0006924"(activation-induced cell death of T cells)|go:"GO:0007369"(gastrulation)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022605"(mammalian oogenesis stage)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030425"(dendrite)|go:"GO:0031929"(TOR signaling)|go:"GO:0033077"(T cell differentiation in thymus)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042593"(glucose homeostasis)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0044297"(cell body)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048821"(erythrocyte development)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001377(Ribosomal protein S6e)|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|dip:DIP-31507N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:beDuXCIqL99V9JlVfpzx7MdpH689606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O60884 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352957|ensembl:ENSP00000314030|uniprotkb:O14711|uniprotkb:B2R7L7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dnja2_human(display_long)|uniprotkb:DNAJA2(gene name)|psi-mi:DNAJA2(display_short)|uniprotkb:HIRIP4(gene name synonym)|uniprotkb:CPR3(gene name synonym)|uniprotkb:HIRA-interacting protein 4(gene name synonym)|uniprotkb:Cell cycle progression restoration gene 3 protein(gene name synonym)|uniprotkb:Dnj3(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-14(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000069345(gene)|ensembl:ENST00000317089(transcript)|go:"GO:0001671"(ATPase activator activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005829"(cytosol)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0009408"(response to heat)|go:"GO:0016020"(membrane)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0042026"(protein refolding)|go:"GO:0046872"(metal ion binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051087"(chaperone binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001305(Heat shock protein DnaJ, cysteine-rich region)|interpro:IPR001623(Heat shock protein DnaJ, N-terminal)|interpro:IPR002939(Chaperone DnaJ, C-terminal)|interpro:IPR008971(HSP40/DnaJ peptide-binding)|interpro:IPR012724(Chaperone DnaJ)|interpro:IPR036410|interpro:IPR036869|interpro:IPR044713|mint:O60884|reactome:R-HSA-3371497|interpro:IPR018253|refseq:NP_005871.1|dip:DIP-33143N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:c+JdHn0cKVKqRZCvK6DRYWs+zkQ9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11717 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1048580|uniprotkb:Q7Z7G9|uniprotkb:Q96PT5|ensembl:ENSP00000349437 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mpri_human(display_long)|uniprotkb:Insulin-like growth factor 2 receptor(gene name synonym)|uniprotkb:Insulin-like growth factor II receptor(gene name synonym)|uniprotkb:M6P/IGF2 receptor(gene name synonym)|uniprotkb:300 kDa mannose 6-phosphate receptor(gene name synonym)|uniprotkb:IGF2R(gene name)|psi-mi:IGF2R(display_short)|uniprotkb:MPRI(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000867.2|go:"GO:0001965"(G-protein alpha-subunit binding)|go:"GO:0001972"(retinoic acid binding)|go:"GO:0005010"(insulin-like growth factor-activated receptor activity)|go:"GO:0005520"(insulin-like growth factor binding)|go:"GO:0005537"(mannose binding)|go:"GO:0005641"(nuclear envelope lumen)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005770"(late endosome)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006898"(receptor-mediated endocytosis)|ensembl:ENSG00000197081(gene)|go:"GO:0007041"(lysosomal transport)|go:"GO:0007165"(signal transduction)|ensembl:ENST00000356956(transcript)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0001889"(liver development)|go:"GO:0007283"(spermatogenesis)|go:"GO:0009791"(post-embryonic development)|go:"GO:0009986"(cell surface)|go:"GO:0010008"(endosome membrane)|go:"GO:0016020"(membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0030118"(clathrin coat)|go:"GO:0030133"(transport vesicle)|go:"GO:0030139"(endocytic vesicle)|go:"GO:0030140"(trans-Golgi network transport vesicle)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0031100"(animal organ regeneration)|go:"GO:0031995"(insulin-like growth factor II binding)|go:"GO:0032526"(response to retinoic acid)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0044794"(positive regulation by host of viral process)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051219"(phosphoprotein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904772"(response to tetrachloromethane)|go:"GO:1905394"(retromer complex binding)|interpro:IPR000479(Cation-independent mannose-6-phosphate receptor)|interpro:IPR000562(Type II fibronectin, collagen-binding)|interpro:IPR009011(Mannose-6-phosphate receptor, binding)|interpro:IPR013806(Kringle-like fold)|interpro:IPR036943|interpro:IPR044865|mint:P11717|rcsb pdb:1E6F|rcsb pdb:1GP0|rcsb pdb:1GP3|rcsb pdb:1GQB|rcsb pdb:1JPL|rcsb pdb:1JWG|rcsb pdb:1LF8|rcsb pdb:2CNJ|rcsb pdb:2L29|rcsb pdb:2L2A|rcsb pdb:2M68|rcsb pdb:2M6T|rcsb pdb:2V5N|rcsb pdb:2V5O|rcsb pdb:2V5P|rcsb pdb:5IEI|rcsb pdb:6N5X|rcsb pdb:6N5Y|rcsb pdb:6P8I|rcsb pdb:6V02|rcsb pdb:6Z30|rcsb pdb:6Z31|rcsb pdb:6Z32|reactome:R-HSA-432722|reactome:R-HSA-6798695|reactome:R-HSA-6811440|reactome:R-HSA-8856825|reactome:R-HSA-8856828|dip:DIP-6027N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7lkG6WR8MQ/SONiTV/8g1ZTtKTU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P52272 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-486809|uniprotkb:Q9Y492|uniprotkb:Q15584|uniprotkb:Q8WZ44|uniprotkb:Q96H56|uniprotkb:Q9BWL9|intact:EBI-28985795|ensembl:ENSP00000325376 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hnrpm_human(display_long)|uniprotkb:HNRNPM(gene name)|psi-mi:HNRNPM(display_short)|uniprotkb:HNRPM(gene name synonym)|uniprotkb:NAGR1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005959.2|refseq:NP_112480.2|ensembl:ENSG00000099783(gene)|ensembl:ENST00000325495(transcript)|go:"GO:0000380"(alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0016020"(membrane)|go:"GO:0016363"(nuclear matrix)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0042382"(paraspeckles)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:0071014"(post-mRNA release spliceosomal complex)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000815"(regulation of mRNA stability involved in response to oxidative stress)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR024666|interpro:IPR024667|interpro:IPR034990|interpro:IPR035979|mint:P52272|rcsb pdb:2DGV|rcsb pdb:2DH9|rcsb pdb:2DO0|rcsb pdb:2OT8|reactome:R-HSA-6803529|reactome:R-HSA-72163|reactome:R-HSA-72203|dip:DIP-29336N|ensembl:ENSP00000325376|ensembl:ENST00000348943|ensembl:ENSP00000325732 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5FnCgrz0xltEkgw3yh70KP2jz5g9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F8VUA6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046329|ensembl:ENSP00000447894 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f8vua6_human(display_long)|uniprotkb:RPL18(gene name)|psi-mi:RPL18(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000063177(gene)|ensembl:ENST00000550973(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR000039(Ribosomal protein L18e)|interpro:IPR021131|interpro:IPR036227 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Qg1tsN0iJU9IOK8rsNCaWj0QHfg9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EPB3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21264855|ensembl:ENSP00000391446 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7epb3_human(display_long)|uniprotkb:RPL14(gene name)|psi-mi:RPL14(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000188846(gene)|ensembl:ENST00000416518(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR002784(Ribosomal protein L14)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR039660|interpro:IPR041985 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:INjqgtDGHHmR14PAmHVezlKncoE9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7ENU7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27047372|ensembl:ENSP00000411176 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7enu7_human(display_long)|uniprotkb:RPL15(gene name)|psi-mi:RPL15(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000174748(gene)|ensembl:ENST00000412097(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR000439(Ribosomal protein L15e)|interpro:IPR012678(Ribosomal protein L23/L15e, core)|interpro:IPR020925|interpro:IPR024794 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ub7xeWFcJ54/gWrUASDmAabM9ak9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P02786 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355727|uniprotkb:Q59G55|uniprotkb:Q9UCN0|uniprotkb:Q9UCU5|uniprotkb:Q9UDF9|uniprotkb:Q9UK21|uniprotkb:Q1HE24|uniprotkb:D3DXB0|ensembl:ENSP00000353224|ensembl:ENSP00000376197 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tfr1_human(display_long)|uniprotkb:TFRC(gene name)|psi-mi:TFRC(display_short)|uniprotkb:T9(gene name synonym)|uniprotkb:p90(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001121620.1|refseq:NP_003225.2|refseq:NP_001300894.1|refseq:NP_001300895.1|ensembl:ENSG00000072274(gene)|ensembl:ENST00000360110(transcript)|ensembl:ENST00000392396(transcript)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0004998"(transferrin receptor activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005905"(clathrin-coated pit)|go:"GO:0006826"(iron ion transport)|go:"GO:0006879"(cellular iron ion homeostasis)|go:"GO:0008235"(metalloexopeptidase activity)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0010008"(endosome membrane)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0010637"(negative regulation of mitochondrial fusion)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030316"(osteoclast differentiation)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0030890"(positive regulation of B cell proliferation)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031623"(receptor internalization)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0033572"(transferrin transport)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0035690"|go:"GO:0042102"(positive regulation of T cell proliferation)|go:"GO:0042470"(melanosome)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045780"(positive regulation of bone resorption)|go:"GO:0045830"(positive regulation of isotype switching)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0055037"(recycling endosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:0150104"(transport across blood-brain barrier)|go:"GO:1900182"(positive regulation of protein localization to nucleus)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1990712"(HFE-transferrin receptor complex)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|interpro:IPR003137(Protease-associated PA)|interpro:IPR007365(Transferrin receptor-like, dimerisation)|interpro:IPR007484(Peptidase M28)|interpro:IPR029513|interpro:IPR036757|interpro:IPR037324|interpro:IPR039373|mint:P02786|rcsb pdb:1CX8|rcsb pdb:1DE4|rcsb pdb:1SUV|rcsb pdb:2NSU|rcsb pdb:3KAS|rcsb pdb:3S9L|rcsb pdb:3S9M|rcsb pdb:3S9N|rcsb pdb:6D03|rcsb pdb:6D04|rcsb pdb:6D05|rcsb pdb:6GSR|rcsb pdb:6H5I|rcsb pdb:6OKD|rcsb pdb:6W3H|rcsb pdb:6WRV|rcsb pdb:6WRW|rcsb pdb:6WRX|rcsb pdb:6Y76|reactome:R-HSA-432722|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013406|reactome:R-HSA-9013407|reactome:R-HSA-9013408|reactome:R-HSA-9013409|reactome:R-HSA-9013423|reactome:R-HSA-917977|reactome:R-HSA-9696270|reactome:R-HSA-9696273|dip:DIP-2736N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:TWJEaKElrOrDMMqSefG5icrTbIU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75044 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1051034|ensembl:ENSP00000459615|uniprotkb:A2RUF3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:srgp2_human(display_long)|uniprotkb:Formin-binding protein 2(gene name synonym)|uniprotkb:SRGAP2(gene name)|psi-mi:SRGAP2(display_short)|uniprotkb:FNBP2(gene name synonym)|uniprotkb:KIAA0456(gene name synonym)|uniprotkb:ARHGAP34(gene name synonym)|uniprotkb:Rho GTPase-activating protein 34(gene name synonym)|uniprotkb:SRGAP2A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001164108.1|refseq:NP_056141.2|ensembl:ENSG00000266028(gene)|ensembl:ENST00000573034(transcript)|go:"GO:0003363"(lamellipodium assembly involved in ameboidal cell migration)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0007165"(signal transduction)|go:"GO:0014069"(postsynaptic density)|go:"GO:0021816"(extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration)|go:"GO:0030027"(lamellipodium)|go:"GO:0030336"(negative regulation of cell migration)|go:"GO:0031267"(small GTPase binding)|go:"GO:0034446"(substrate adhesion-dependent cell spreading)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043547"(positive regulation of GTPase activity)|go:"GO:0044327"(dendritic spine head)|go:"GO:0045211"(postsynaptic membrane)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0046847"(filopodium assembly)|go:"GO:0048812"(neuron projection morphogenesis)|go:"GO:0051014"(actin filament severing)|go:"GO:0051056"(regulation of small GTPase mediated signal transduction)|go:"GO:0060996"(dendritic spine development)|go:"GO:2001223"(negative regulation of neuron migration)|interpro:IPR000198(RhoGAP)|interpro:IPR001060(Cdc15/Fes/CIP4)|interpro:IPR001452(Src homology-3)|interpro:IPR008936(Rho GTPase activation protein)|interpro:IPR027267|interpro:IPR030252|interpro:IPR031160|interpro:IPR035648|interpro:IPR036028|mint:O75044|rcsb pdb:2DL8|rcsb pdb:4RTT|rcsb pdb:4RUG|rcsb pdb:5I6J|rcsb pdb:5I6R|rcsb pdb:5I7D|reactome:R-HSA-428543|reactome:R-HSA-5663220|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013406|reactome:R-HSA-9013420|reactome:R-HSA-9013423|reactome:R-HSA-9035034|dip:DIP-37618N|refseq:XP_005277567.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/0NBTrPy/51L4LGytNP/80OifEE9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0R117 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044265|ensembl:ENSP00000471584 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0r117_human(display_long)|uniprotkb:RPL18A(gene name)|psi-mi:RPL18A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000105640(gene)|ensembl:ENST00000600147(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR021138|interpro:IPR023573|interpro:IPR028877 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:8SmNfN4PVIDCunGHH+Qogfm5f2U9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96N67 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2433703|uniprotkb:Q00M63|uniprotkb:Q2PPY7|uniprotkb:Q45RE8|uniprotkb:Q45RE9|uniprotkb:Q5T1B9|uniprotkb:Q5T1C0|uniprotkb:Q6ZV32|uniprotkb:Q8TB82|uniprotkb:Q96NG6|uniprotkb:Q9C092|intact:EBI-7303260|intact:MINT-1683616|uniprotkb:Q96NI0|intact:EBI-28980506|ensembl:ENSP00000489124 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011540628.1|refseq:NP_001258931.1|refseq:NP_212132.2|ensembl:ENST00000251157|ensembl:ENSP00000251157|ensembl:ENST00000340370|ensembl:ENSP00000340742|ensembl:ENST00000404627|ensembl:ENSP00000384446|ensembl:ENST00000454575|ensembl:ENSP00000413583|ensembl:ENST00000634264|ensembl:ENSP00000489284|ensembl:ENST00000635123|ensembl:ENSP00000489499|ensembl:ENSP00000489124|refseq:NP_001258928.1|refseq:NP_001258929.1|refseq:NP_001258930.1|refseq:NP_001317543.1|ensembl:ENSG00000116641(gene)|ensembl:ENST00000635253(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005925"(focal adhesion)|go:"GO:0007264"(small GTPase mediated signal transduction)|go:"GO:0007409"(axonogenesis)|go:"GO:0022027"(interkinetic nuclear migration)|go:"GO:0030424"(axon)|go:"GO:0030426"(growth cone)|go:"GO:0031175"(neuron projection development)|go:"GO:0031267"(small GTPase binding)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0043005"(neuron projection)|go:"GO:0045178"(basal part of cell)|go:"GO:0045200"(establishment of neuroblast polarity)|go:"GO:0050767"(regulation of neurogenesis)|go:"GO:0090630"(activation of GTPase activity)|go:"GO:0120163"(negative regulation of cold-induced thermogenesis)|go:"GO:1904754"(positive regulation of vascular associated smooth muscle cell migration)|interpro:IPR010703(Dedicator of cytokinesis)|interpro:IPR021816|interpro:IPR026791|interpro:IPR027007|interpro:IPR027357|interpro:IPR035892|interpro:IPR037808|interpro:IPR043161|interpro:IPR043162|mint:Q96N67|rcsb pdb:6AJ4|rcsb pdb:6AJL|reactome:R-HSA-8875555|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-983231 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:M0R0K9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046305|ensembl:ENSP00000471303 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:m0r0k9_human(display_long)|uniprotkb:TRIM28(gene name)|psi-mi:TRIM28(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000130726(gene)|ensembl:ENST00000597136(transcript)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0046872"(metal ion binding)|interpro:IPR001487(Bromodomain)|interpro:IPR001965(Zinc finger, PHD-type)|interpro:IPR011011(Zinc finger, FYVE/PHD-type)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR019786|interpro:IPR019787|interpro:IPR036427|interpro:IPR037373 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HQxN0/O6+t1WruhFhwdAIM3dXgo9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B7Z596 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27047359|ensembl:ENSP00000453724 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b7z596_human(display_long)|uniprotkb:TPM1(gene name)|psi-mi:TPM1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000140416(gene)|ensembl:ENST00000560959(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005829"(cytosol)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016021"(integral component of membrane)|interpro:IPR000533(Tropomyosin)|refseq:XP_005254703.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4/cs7f+ItEbmJjKhICVrcmMxod49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9ULV0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-311356|uniprotkb:B0I1R3|uniprotkb:Q0P656|uniprotkb:Q9H6Y6|intact:EBI-28979562|ensembl:ENSP00000285039 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myo5b_human(display_long)|uniprotkb:MYO5B(gene name)|psi-mi:MYO5B(display_short)|uniprotkb:KIAA1119(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000285039|ensembl:ENST00000592688|ensembl:ENSP00000466368|ensembl:ENSG00000167306(gene)|ensembl:ENST00000285039(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0003091"(renal water homeostasis)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0007015"(actin filament organization)|go:"GO:0015031"(protein transport)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0016197"(endosomal transport)|go:"GO:0016459"(myosin complex)|go:"GO:0030050"(vesicle transport along actin filament)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031982"(vesicle)|go:"GO:0032991"(protein-containing complex)|go:"GO:0045179"(apical cortex)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002710(Dilute)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR027417|interpro:IPR036103|interpro:IPR036961|interpro:IPR037990|mint:Q9ULV0|rcsb pdb:4J5M|rcsb pdb:4LNZ|rcsb pdb:4LWZ|rcsb pdb:4LX0|reactome:R-HSA-432040|refseq:NP_001073936.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:p6fM9FBgui27LRlshWAjPe47Ftc9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q07065 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-702400|uniprotkb:Q504S5|uniprotkb:Q53ES6|ensembl:ENSP00000367265 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ckap4_human(display_long)|uniprotkb:CKAP4(gene name)|psi-mi:CKAP4(display_short)|uniprotkb:63-kDa cytoskeleton-linking membrane protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006816.2|ensembl:ENSG00000136026(gene)|ensembl:ENST00000378026(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005811"(lipid droplet)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0035577"(azurophil granule membrane)|go:"GO:0035579"(specific granule membrane)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042599"(lamellar body)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0070062"(extracellular exosome)|interpro:IPR028428|mint:Q07065|reactome:R-HSA-381426|reactome:R-HSA-5683826|reactome:R-HSA-6798695|reactome:R-HSA-8957275|reactome:R-HSA-9696264|reactome:R-HSA-9696270 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Q1hrxqh5k4Myf7J0To8Ecm/xxs49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q05682 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1642116|uniprotkb:Q13978|uniprotkb:Q13979|uniprotkb:Q14741|uniprotkb:Q14742|uniprotkb:Q9UD91|uniprotkb:A8K0X1|ensembl:ENSP00000354826 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cald1_human(display_long)|uniprotkb:CALD1(gene name)|psi-mi:CALD1(display_short)|uniprotkb:CAD(gene name synonym)|uniprotkb:CDM(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004333.1|refseq:NP_149129.2|refseq:NP_149130.1|refseq:NP_149131.1|refseq:NP_149347.2|refseq:XP_016868140.1|refseq:XP_016868141.1|ensembl:ENSG00000122786(gene)|ensembl:ENST00000361675(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0003779"(actin binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005523"(tropomyosin binding)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0006936"(muscle contraction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0017022"(myosin binding)|go:"GO:0030016"(myofibril)|go:"GO:0030478"(actin cap)|go:"GO:0045296"(cadherin binding)|go:"GO:0051017"(actin filament bundle assembly)|interpro:IPR006017(Caldesmon)|interpro:IPR006018(Caldesmon and lymphocyte specific protein)|mint:Q05682|reactome:R-HSA-445355 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fvHmtqnSPixs/3150s7LOA1Bvpw9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q03001 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-310758|uniprotkb:Q5TBT0|uniprotkb:Q8N1T8|uniprotkb:Q8N8J3|uniprotkb:Q8WXK9|uniprotkb:Q96AK9|uniprotkb:Q96DQ5|uniprotkb:B7Z3H1|uniprotkb:Q9UN10|uniprotkb:Q9H555|uniprotkb:Q5TBT2|uniprotkb:Q8WXK8|uniprotkb:O94833|uniprotkb:Q12825|uniprotkb:Q13266|uniprotkb:Q13267|uniprotkb:Q13775|uniprotkb:Q5TF23|uniprotkb:Q96J76|uniprotkb:Q96QT5|uniprotkb:Q9UGD7|uniprotkb:Q9UGD8|intact:EBI-350219|uniprotkb:E7ERU0|intact:EBI-350252|uniprotkb:Q5TF24|intact:EBI-310783 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dyst_human(display_long)|uniprotkb:DST(gene name)|psi-mi:DST(display_short)|uniprotkb:BPAG1(gene name synonym)|uniprotkb:DMH(gene name synonym)|uniprotkb:DT(gene name synonym)|uniprotkb:KIAA0728(gene name synonym)|uniprotkb:230 kDa bullous pemphigoid antigen(gene name synonym)|uniprotkb:Hemidesmosomal plaque protein(gene name synonym)|uniprotkb:Dystonia musculorum protein(gene name synonym)|uniprotkb:BP230(gene name synonym)|uniprotkb:BP240(gene name synonym)|uniprotkb:230/240 kDa bullous pemphigoid antigen(gene name synonym)|uniprotkb:Bullous pemphigoid antigen 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_016866713.1|refseq:NP_001714.1|refseq:NP_056363.2|mint:Q03001|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005604"(basement membrane)|go:"GO:0005634"(nucleus)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005882"(intermediate filament)|go:"GO:0005925"(focal adhesion)|go:"GO:0005938"(cell cortex)|go:"GO:0007010"(cytoskeleton organization)|go:"GO:0007155"(cell adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0008017"(microtubule binding)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008090"(retrograde axonal transport)|go:"GO:0009611"(response to wounding)|go:"GO:0009925"(basal plasma membrane)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030011"(maintenance of cell polarity)|go:"GO:0030018"(Z disc)|go:"GO:0030056"(hemidesmosome)|go:"GO:0030424"(axon)|go:"GO:0031122"(cytoplasmic microtubule organization)|go:"GO:0031252"(cell leading edge)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031581"(hemidesmosome assembly)|go:"GO:0031673"(H zone)|go:"GO:0035371"(microtubule plus-end)|go:"GO:0042060"(wound healing)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0045104"(intermediate filament cytoskeleton organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0048870"(cell motility)|go:"GO:0051010"(microtubule plus-end binding)|go:"GO:1904115"(axon cytoplasm)|interpro:IPR018159|interpro:IPR018247|interpro:IPR035915|interpro:IPR036534|interpro:IPR036872|interpro:IPR041573|interpro:IPR041615|interpro:IPR043197|rcsb pdb:3GJO|reactome:R-HSA-2022090|reactome:R-HSA-446107|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9696264|reactome:R-HSA-9696270|reactome:R-HSA-9696273|interpro:IPR001101(Plectin repeat)|interpro:IPR001452(Src homology-3)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR003108(Growth-arrest-specific protein 2)|interpro:IPR011992(EF-Hand type)|ensembl:ENST00000244364|ensembl:ENSP00000244364|ensembl:ENSG00000151914|ensembl:ENST00000370765|ensembl:ENSP00000359801|ensembl:ENST00000370788|ensembl:ENSP00000359824|ensembl:ENST00000439203|ensembl:ENSP00000404924|refseq:NP_001138241.1|refseq:NP_001138242.1|refseq:NP_899236.1|dip:DIP-33131N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5jynCc9AQYiyXSw6P4v3wzlVNU49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62266 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353072|ensembl:ENSP00000296674|ensembl:ENSP00000498621|uniprotkb:P39028|uniprotkb:Q6IB08 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs23_human(display_long)|uniprotkb:RPS23(gene name)|psi-mi:RPS23(display_short)|uniprotkb:Small ribosomal subunit protein uS12(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|ensembl:ENSG00000186468(gene)|ensembl:ENST00000296674(transcript)|ensembl:ENST00000651545(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0034063"(stress granule assembly)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045202"(synapse)|go:"GO:1990145"(maintenance of translational fidelity)|interpro:IPR005680(Ribosomal protein S23, eukaryotic/archaeal)|interpro:IPR006032(Ribosomal protein S12/S23)|rcsb pdb:5T2C|rcsb pdb:5VYC|interpro:IPR012340(Nucleic acid-binding, OB-fold)|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|mint:P62266|rcsb pdb:6G4W|rcsb pdb:4CXG|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:4CXH|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:4UG0|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|refseq:NP_001016.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:MWZPvSL/G45ocaxA5AXKCkDQxNU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62277 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351850|uniprotkb:P19116|uniprotkb:Q02546|uniprotkb:Q29200|uniprotkb:Q498Y0|uniprotkb:B2R549|ensembl:ENSP00000435777 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs13_human(display_long)|uniprotkb:RPS13(gene name)|psi-mi:RPS13(display_short)|uniprotkb:Small ribosomal subunit protein uS15(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001008.1|ensembl:ENSG00000110700(gene)|ensembl:ENST00000525634(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0033119"(negative regulation of RNA splicing)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070181"(small ribosomal subunit rRNA binding)|interpro:IPR000589(Ribosomal protein S15)|interpro:IPR009068(S15/NS1, RNA-binding)|interpro:IPR012606(Ribosomal protein S13/S15, N-terminal)|interpro:IPR023029|mint:P62277|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6OM7|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GmlWYkXKxX6YwpEtzNABb+ZcytI9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62906 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356860|uniprotkb:P52859|uniprotkb:P53025|uniprotkb:Q5TZT6|uniprotkb:Q8J013|uniprotkb:B2R801|ensembl:ENSP00000363018 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl10a_human(display_long)|uniprotkb:RPL10A(gene name)|psi-mi:RPL10A(display_short)|uniprotkb:NEDD6(gene name synonym)|uniprotkb:CSA-19(gene name synonym)|uniprotkb:Neural precursor cell expressed developmentally down-regulated protein 6(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_009035.3|ensembl:ENSG00000198755(gene)|ensembl:ENST00000322203(transcript)|go:"GO:0000470"(maturation of LSU-rRNA)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045471"(response to ethanol)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002143(Ribosomal protein L1)|interpro:IPR016095(Ribosomal protein L1, 3-layer alpha/beta-sandwich)|interpro:IPR023673|interpro:IPR023674|interpro:IPR028364|mint:P62906|rcsb pdb:4UG0|rcsb pdb:4V6X|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LU8|rcsb pdb:6OLG|rcsb pdb:6QZP|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:wrXKX6vzZ3ovXP3yUoL1/r+NGiw9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15511 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352975|uniprotkb:A6NEC4|uniprotkb:Q6PG42|ensembl:ENSP00000352918 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arpc5_human(display_long)|uniprotkb:ARPC5(gene name)|psi-mi:ARPC5(display_short)|uniprotkb:ARC16(gene name synonym)|uniprotkb:Arp2/3 complex 16 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005708.1|refseq:NP_001257368.1|dip:DIP-33144N|ensembl:ENSG00000162704(gene)|ensembl:ENST00000359856(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005768"(endosome)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0014909"(smooth muscle cell migration)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016477"(cell migration)|go:"GO:0021769"(orbitofrontal cortex development)|go:"GO:0030011"(maintenance of cell polarity)|go:"GO:0030027"(lamellipodium)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0030426"(growth cone)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0035861"(site of double-strand break)|go:"GO:0051639"(actin filament network formation)|go:"GO:0061842"(microtubule organizing center localization)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097581"(lamellipodium organization)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR006789("ARP2/3 complex 16 kDa subunit (p16-Arc)")|interpro:IPR036743|mint:O15511|rcsb pdb:6UHC|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-6798695|reactome:R-HSA-8856828|reactome:R-HSA-9664422 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kfZQK6CXdREnQNI1h+GlQpB/gPI9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62280 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1047710|uniprotkb:B2R4F5|uniprotkb:P04643|uniprotkb:Q498Y6|uniprotkb:Q6IRY0|ensembl:ENSP00000270625 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs11_human(display_long)|uniprotkb:RPS11(gene name)|psi-mi:RPS11(display_short)|uniprotkb:Small ribosomal subunit protein uS17(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001006.1|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000266(Ribosomal protein S17)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR019979|interpro:IPR028333|interpro:IPR032440|mint:P62280|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|go:"GO:0005840"(ribosome)|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|ensembl:ENSG00000142534(gene)|ensembl:ENST00000270625(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|rcsb pdb:6OM0|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0fqJjtWAuz31VTKt2mbteRoi8vA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E5RI99 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-11602717|ensembl:ENSP00000429483 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e5ri99_human(display_long)|uniprotkb:RPL30(gene name)|psi-mi:RPL30(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000156482(gene)|ensembl:ENST00000521726(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0022625"(cytosolic large ribosomal subunit)|interpro:IPR000231(Ribosomal protein L30e)|interpro:IPR004038(Ribosomal protein L7Ae/L30e/S12e/Gadd45)|interpro:IPR022991|interpro:IPR029064|interpro:IPR039109 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/XtNkobILICE8La679+Vydnf6cs9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P19338 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-346967|uniprotkb:Q53SK1|uniprotkb:Q8NB06|uniprotkb:Q9UDG1|uniprotkb:Q9UCF0|intact:EBI-352553|ensembl:ENSP00000318195 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nucl_human(display_long)|uniprotkb:NCL(gene name)|psi-mi:NCL(display_short)|uniprotkb:Protein C23(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005372.2|dip:DIP-89N|ensembl:ENSG00000115053(gene)|ensembl:ENST00000322723(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005938"(cell cortex)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042162"(telomeric DNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0044547"(DNA topoisomerase binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071364"(cellular response to epidermal growth factor stimulus)|go:"GO:1901838"(positive regulation of transcription of nucleolar large rRNA by RNA polymerase I)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR003954(RNA recognition, region 1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034230|interpro:IPR034233|interpro:IPR034234|interpro:IPR034235|interpro:IPR035979|mint:P19338|rcsb pdb:2FC8|rcsb pdb:2FC9|rcsb pdb:2KRR|reactome:R-HSA-6791226 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PbsEnzoLR4dES5SnMwx08Hr6yeo9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46778 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350634|uniprotkb:Q16699|ensembl:ENSP00000346027|ensembl:ENSP00000351021|ensembl:ENSP00000370569|ensembl:ENSP00000370574 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl21_human(display_long)|uniprotkb:RPL21(gene name)|psi-mi:RPL21(display_short)|uniprotkb:Large ribosomal subunit protein eL21(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:6LU8|refseq:NP_000973.2|ensembl:ENSG00000122026(gene)|ensembl:ENST00000272274(transcript)|ensembl:ENST00000311549(transcript)|ensembl:ENST00000319826(transcript)|ensembl:ENST00000326092(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|interpro:IPR001147(Ribosomal protein L21e)|interpro:IPR008991(Translation protein SH3-like)|interpro:IPR018259|interpro:IPR036948|mint:P46778|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6OLE|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:UCth+WL9Oj1Y9I5m4i/9X0a5WHk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6NZI2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2559016|uniprotkb:O00535|uniprotkb:Q96H74|uniprotkb:Q6GMY1|uniprotkb:B2RAW7|uniprotkb:Q9BT85|uniprotkb:Q9HAP4|ensembl:ENSP00000349541 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cavn1_human(display_long)|uniprotkb:CAVIN1(gene name)|psi-mi:CAVIN1(display_short)|uniprotkb:Cavin-1(gene name synonym)|uniprotkb:PTRF(gene name synonym)|uniprotkb:Polymerase I and transcript release factor(gene name synonym)|uniprotkb:FKSG13(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_036364.2|ensembl:ENSG00000177469(gene)|ensembl:ENST00000357037(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005901"(caveola)|go:"GO:0006361"(transcription initiation from RNA polymerase I promoter)|go:"GO:0006363"(termination of RNA polymerase I transcription)|go:"GO:0009303"(rRNA transcription)|go:"GO:0009306"(protein secretion)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042134"(rRNA primary transcript binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045121"(membrane raft)|go:"GO:2000147"(positive regulation of cell motility)|interpro:IPR026752|mint:Q6NZI2|reactome:R-HSA-73863|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|interpro:IPR033297|dip:DIP-48550N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:55dzpwSSfj8aEzmgHKYdrHfgYBg9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8WVC2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10276945|ensembl:ENSP00000388332 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:q8wvc2_human(display_long)|uniprotkb:RPS21(gene name)|psi-mi:RPS21(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000171858(gene)|ensembl:ENST00000450116(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001931(Ribosomal protein S21e)|interpro:IPR018279|interpro:IPR038579 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7TrXVkTVYP1Z3LvgeEAQqa3nWow9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:C9JNW5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6190023|ensembl:ENSP00000420380 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:c9jnw5_human(display_long)|uniprotkb:RPL24(gene name)|psi-mi:RPL24(display_short)|uniprotkb:hCG_2023003(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000114391(gene)|ensembl:ENST00000469605(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|interpro:IPR000988(Ribosomal protein L24e)|interpro:IPR011017(TRASH)|interpro:IPR023442|interpro:IPR038630 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:OE53tm5RMpxZtGwHcVKogk9J89A9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y4I1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1054086|uniprotkb:O60653|uniprotkb:Q07902|uniprotkb:Q16249|uniprotkb:Q9UE30|uniprotkb:Q9UE31|uniprotkb:A8MZC5|ensembl:ENSP00000382177 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myo5a_human(display_long)|uniprotkb:Dilute myosin heavy chain, non-muscle(gene name synonym)|uniprotkb:Myosin heavy chain 12(gene name synonym)|uniprotkb:Myoxin(gene name synonym)|uniprotkb:MYO5A(gene name)|psi-mi:MYO5A(display_short)|uniprotkb:MYH12(gene name synonym)|uniprotkb:Myosin-12(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000250.3|refseq:XP_005254454.1|ensembl:ENSG00000197535(gene)|ensembl:ENST00000399231(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0001726"(ruffle)|go:"GO:0003723"(RNA binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006892"(post-Golgi vesicle-mediated transport)|go:"GO:0007015"(actin filament organization)|go:"GO:0015031"(protein transport)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0016459"(myosin complex)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030050"(vesicle transport along actin filament)|go:"GO:0030426"(growth cone)|go:"GO:0031267"(small GTPase binding)|go:"GO:0032402"(melanosome transport)|go:"GO:0032433"(filopodium tip)|go:"GO:0032593"(insulin-responsive compartment)|go:"GO:0032869"(cellular response to insulin stimulus)|go:"GO:0042470"(melanosome)|go:"GO:0043005"(neuron projection)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002710(Dilute)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR027417|interpro:IPR036103|interpro:IPR036961|interpro:IPR037988|mint:Q9Y4I1|rcsb pdb:4D07|rcsb pdb:4J5L|rcsb pdb:4LLI|rcsb pdb:4LX1|rcsb pdb:4LX2|rcsb pdb:5JCY|rcsb pdb:5JCZ|reactome:R-HSA-1445148|reactome:R-HSA-2029482|reactome:R-HSA-264876|reactome:R-HSA-9664422 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:z4bbPG/RrXSmBWT6I0nbIztGp809606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35268 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354533|intact:EBI-1055963|uniprotkb:Q6IBD1|uniprotkb:B2R495|ensembl:ENSP00000346088 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl22_human(display_long)|uniprotkb:RPL22(gene name)|psi-mi:RPL22(display_short)|uniprotkb:Heparin-binding protein HBp15(gene name synonym)|uniprotkb:Epstein-Barr virus small RNA-associated protein(gene name synonym)|uniprotkb:EBER-associated protein(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL22(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000974.1|ensembl:ENSG00000116251(gene)|ensembl:ENST00000234875(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0008201"(heparin binding)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042802"(identical protein binding)|go:"GO:0045182"(translation regulator activity)|go:"GO:0046632"(alpha-beta T cell differentiation)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098793"(presynapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099577"(regulation of translation at presynapse, modulating synaptic transmission)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR002671(Ribosomal protein L22e)|interpro:IPR038526|mint:P35268|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|reactome:R-HSA-72706|rcsb pdb:6Z6L|rcsb pdb:6Z6M|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0TVillnqDkHmdTwxIedAJCVAdzY9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:D6RAN4 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26879233|ensembl:ENSP00000421872 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:d6ran4_human(display_long)|uniprotkb:RPL9(gene name)|psi-mi:RPL9(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000163682(gene)|ensembl:ENST00000503040(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|go:"GO:0019843"(rRNA binding)|interpro:IPR000702(Ribosomal protein L6)|interpro:IPR002359(Ribosomal protein L6, conserved site-2)|interpro:IPR020040|interpro:IPR036789 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6DaaQaVRyM4Ll74N78bXZxenY5Q9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:D6R938 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-20722987|ensembl:ENSP00000423677 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:d6r938_human(display_long)|uniprotkb:CAMK2D(gene name)|psi-mi:CAMK2D(display_short)|uniprotkb:hCG_22679(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000145349(gene)|ensembl:ENST00000514328(transcript)|go:"GO:0004683"(calmodulin-dependent protein kinase activity)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|interpro:IPR000719(Protein kinase, core)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR013543(Calcium/calmodulin dependent protein kinase II, association-domain)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR032710|refseq:NP_001308503.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:q1yS9I1HDEPTopAGWNwPHPPI7zA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14639 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-487024|uniprotkb:A6NI16|uniprotkb:Q5T6N3|uniprotkb:Q5JVV1|uniprotkb:Q15039|uniprotkb:Q68CQ9|uniprotkb:Q9BUP1|uniprotkb:Q5T6N5|uniprotkb:B3KVH2|uniprotkb:Q5T6N2|uniprotkb:A6NJ06|uniprotkb:A8MXA9|uniprotkb:Q5JVV2|ensembl:ENSP00000277895 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ablm1_human(display_long)|uniprotkb:Actin-binding LIM protein family member 1(gene name synonym)|uniprotkb:Actin-binding double zinc finger protein(gene name synonym)|uniprotkb:Limatin(gene name synonym)|uniprotkb:ABLIM1(gene name)|psi-mi:ABLIM1(display_short)|uniprotkb:ABLIM(gene name synonym)|uniprotkb:KIAA0059(gene name synonym)|uniprotkb:LIMAB1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001003407.1|refseq:NP_002304.3|refseq:NP_006711.3|ensembl:ENSG00000099204(gene)|ensembl:ENST00000277895(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0007010"(cytoskeleton organization)|go:"GO:0007601"(visual perception)|go:"GO:0009887"(animal organ morphogenesis)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0046872"(metal ion binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0060271"(cilium assembly)|interpro:IPR001781(Zinc finger, LIM-type)|interpro:IPR003128(Villin headpiece)|interpro:IPR028448|interpro:IPR032402|interpro:IPR036886|mint:O14639|reactome:R-HSA-418885|go:"GO:0030032"(lamellipodium assembly)|refseq:NP_001309811.1|refseq:NP_001309821.1|refseq:NP_001309822.1|refseq:NP_001309825.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Dsx3GrmdlsYUmQvuW59NfYF7MJg9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75396 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1058865|ensembl:ENSP00000463393|uniprotkb:A8K1G0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sc22b_human(display_long)|uniprotkb:SEC22B(gene name)|psi-mi:SEC22B(display_short)|uniprotkb:SEC22L1(gene name synonym)|uniprotkb:SEC22 vesicle-trafficking protein homolog B(gene name synonym)|uniprotkb:SEC22 vesicle-trafficking protein-like 1(gene name synonym)|uniprotkb:ER-Golgi SNARE of 24 kDa(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000265808(gene)|ensembl:ENST00000578049(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005484"(SNAP receptor activity)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006890"(retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum)|go:"GO:0008021"(synaptic vesicle)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0015031"(protein transport)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019905"(syntaxin binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030137"(COPI-coated vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031201"(SNARE complex)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0042470"(melanosome)|go:"GO:0045732"(positive regulation of protein catabolic process)|go:"GO:0048280"(vesicle fusion with Golgi apparatus)|go:"GO:1902902"(negative regulation of autophagosome assembly)|interpro:IPR001388(Synaptobrevin)|interpro:IPR010908(Longin)|interpro:IPR011012(Longin-like)|interpro:IPR042855|interpro:IPR044565|mint:O75396|rcsb pdb:2NUP|rcsb pdb:2NUT|rcsb pdb:3EGD|rcsb pdb:3EGX|refseq:NP_004883.3|reactome:R-HSA-204005|reactome:R-HSA-5694530|reactome:R-HSA-6811434|reactome:R-HSA-1236974|dip:DIP-50458N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:DRKtD169T9eYZ2kFufLapidvcKs9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7ETK0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25617761|ensembl:ENSP00000415549 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7etk0_human(display_long)|uniprotkb:RPS24(gene name)|psi-mi:RPS24(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138326(gene)|ensembl:ENST00000435275(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR001976(Ribosomal protein S24e)|interpro:IPR012678(Ribosomal protein L23/L15e, core)|interpro:IPR018098|rcsb pdb:6ZVJ|rcsb pdb:7A09 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Pm8ixG9+zH0UJuOG2HDx6ALJtA09606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KT29 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046261|ensembl:ENSP00000462773 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3kt29_human(display_long)|uniprotkb:RPL23(gene name)|psi-mi:RPL23(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000125691(gene)|ensembl:ENST00000577407(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR000218(Ribosomal protein L14b/L23e)|interpro:IPR019972|interpro:IPR036853 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4EGiT0FnfGXs2kD/VxQYL7+8GNY9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62701 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354303|uniprotkb:P12631|uniprotkb:P12750|uniprotkb:P27576|uniprotkb:Q14727|uniprotkb:P55831|uniprotkb:Q6IPY4|ensembl:ENSP00000362744 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs4x_human(display_long)|uniprotkb:RPS4X(gene name)|psi-mi:RPS4X(display_short)|uniprotkb:CCG2(gene name synonym)|uniprotkb:RPS4(gene name synonym)|uniprotkb:SCAR(gene name synonym)|uniprotkb:Single copy abundant mRNA protein(gene name synonym)|uniprotkb:SCR10(gene name synonym)|uniprotkb:Small ribosomal subunit protein eS4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000998.1|rcsb pdb:6OLI|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|ensembl:ENSG00000198034(gene)|ensembl:ENST00000316084(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005844"(polysome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0007275"(multicellular organism development)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0019843"(rRNA binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0045202"(synapse)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000876(Ribosomal protein S4e)|interpro:IPR002942(RNA-binding S4)|interpro:IPR005824(KOW)|interpro:IPR013843(Ribosomal protein S4e, N-terminal)|interpro:IPR013845(Ribosomal protein S4e, central)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR018199|interpro:IPR032277|interpro:IPR036986|interpro:IPR038237|interpro:IPR041982|mint:P62701|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|go:"GO:0045727"(positive regulation of translation)|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2ZuLXqBSDkK0CtN3mnIDoFAR8yI9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:H7BXY5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27047342|ensembl:ENSP00000343928 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h7bxy5_human(display_long)|uniprotkb:NEXN(gene name)|psi-mi:NEXN(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000162614(gene)|ensembl:ENST00000342754(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0007411"(axon guidance)|go:"GO:0015629"(actin cytoskeleton)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013098(Immunoglobulin I-set)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR043204|go:"GO:0007155"(cell adhesion) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:CpJomxfjiWO5xuSaNT52UxWgiIQ9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P59998 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351872|uniprotkb:O15509|uniprotkb:C9JWM7|uniprotkb:E7ETI0|uniprotkb:Q6P0W5|uniprotkb:Q96QJ3|ensembl:ENSP00000380431|uniprotkb:F6TTL5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arpc4_human(display_long)|uniprotkb:ARPC4(gene name)|psi-mi:ARPC4(display_short)|uniprotkb:ARC20(gene name synonym)|uniprotkb:Arp2/3 complex 20 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001185709.1|refseq:NP_005709.1|ensembl:ENSG00000241553(gene)|ensembl:ENST00000397261(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0019899"(enzyme binding)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0042995"(cell projection)|go:"GO:0045010"(actin nucleation)|go:"GO:0070062"(extracellular exosome)|interpro:IPR008384(ARP23 complex 20 kDa subunit)|interpro:IPR034666|mint:P59998|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|refseq:NP_001020130.1|refseq:NP_001020131.1|dip:DIP-33188N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Iqe60TWfO3QBVOY+fOqZd9JWfIE9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F5H527 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043824|ensembl:ENSP00000444743 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f5h527_human(display_long)|uniprotkb:SSH2(gene name)|psi-mi:SSH2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000141298(gene)|ensembl:ENST00000540801(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0004725"(protein tyrosine phosphatase activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0008138"(protein tyrosine/serine/threonine phosphatase activity)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030837"(negative regulation of actin filament polymerization)|go:"GO:0106306"|go:"GO:0106307"|interpro:IPR000340(Protein-tyrosine phosphatase, dual specificity)|interpro:IPR000387(Protein-tyrosine phosphatase)|interpro:IPR014876(DEK C terminal)|interpro:IPR016130(Protein-tyrosine phosphatase, active site)|interpro:IPR020422|interpro:IPR029021|interpro:IPR043587|interpro:IPR043588|refseq:NP_001269058.1|refseq:XP_005258115.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qv9sogSADxE6dsjk4IkcV67fYks9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04844 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-719731|uniprotkb:Q5JYR6|uniprotkb:Q9UBE1|uniprotkb:Q6IBA5|uniprotkb:Q96E21|uniprotkb:Q9BUQ3|ensembl:ENSP00000237530 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rpn2_human(display_long)|uniprotkb:Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 63 kDa subunit(gene name synonym)|uniprotkb:Ribophorin-2(gene name synonym)|uniprotkb:Ribophorin II(gene name synonym)|uniprotkb:RIBIIR(gene name synonym)|uniprotkb:RPN2(gene name)|psi-mi:RPN2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001129243.1|refseq:NP_002942.2|ensembl:ENSG00000118705(gene)|ensembl:ENST00000237530(transcript)|go:"GO:0000421"(autophagosome membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0006464"(cellular protein modification process)|go:"GO:0006487"(protein N-linked glycosylation)|go:"GO:0007568"(aging)|go:"GO:0008250"(oligosaccharyltransferase complex)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016604"(nuclear body)|go:"GO:0018279"(protein N-linked glycosylation via asparagine)|go:"GO:0042493"|go:"GO:0043022"(ribosome binding)|interpro:IPR008814(Ribophorin II)|mint:P04844|rcsb pdb:6S7O|rcsb pdb:6S7T|reactome:R-HSA-1799339|reactome:R-HSA-446203|reactome:R-HSA-9694548|refseq:NP_001311234.1|refseq:NP_001311235.1|refseq:NP_001311228.1|refseq:NP_001311230.1|refseq:NP_001311231.1|refseq:NP_001311232.1|refseq:NP_001311233.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7bTuuEb3ykWQvkI/5DKpga48s/w9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E9PKZ0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043777|ensembl:ENSP00000434535 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e9pkz0_human(display_long)|uniprotkb:RPL8(gene name)|psi-mi:RPL8(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR008991(Translation protein SH3-like)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR014722(Translation protein SH3-like, subgroup)|interpro:IPR014726(Ribosomal protein L2, domain 3)|interpro:IPR022666|interpro:IPR022669|ensembl:ENSG00000161016(gene)|ensembl:ENST00000532702(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005737"(cytoplasm)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|interpro:IPR002171(Ribosomal protein L2) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:zhxB5WvYK0K3beG3G/5IlG+bhHk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14643 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-465548|ensembl:ENSP00000497605|uniprotkb:Q14660|uniprotkb:Q99897|uniprotkb:E7EPX7|uniprotkb:E9PDE9 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:itpr1_human(display_long)|uniprotkb:ITPR1(gene name)|psi-mi:ITPR1(display_short)|uniprotkb:INSP3R1(gene name synonym)|uniprotkb:Type 1 inositol 1,4,5-trisphosphate receptor(gene name synonym)|uniprotkb:IP3 receptor isoform 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000150995(gene)|ensembl:ENST00000649015(transcript)|go:"GO:0001666"(response to hypoxia)|go:"GO:0005220"(inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005637"(nuclear inner membrane)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005955"(calcineurin complex)|go:"GO:0006816"(calcium ion transport)|go:"GO:0007165"(signal transduction)|go:"GO:0009791"(post-embryonic development)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015085"(calcium ion transmembrane transporter activity)|go:"GO:0015278"(calcium-release channel activity)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016529"(sarcoplasmic reticulum)|go:"GO:0019855"(calcium channel inhibitor activity)|go:"GO:0030658"(transport vesicle membrane)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0031088"(platelet dense granule membrane)|go:"GO:0031094"(platelet dense tubular network)|go:"GO:0031095"(platelet dense tubular network membrane)|go:"GO:0032469"(endoplasmic reticulum calcium ion homeostasis)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0042045"(epithelial fluid transport)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050849"(negative regulation of calcium-mediated signaling)|go:"GO:0050882"(voluntary musculoskeletal movement)|go:"GO:0051209"(release of sequestered calcium ion into cytosol)|go:"GO:0070059"(intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress)|go:"GO:0070679"(inositol 1,4,5 trisphosphate binding)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|interpro:IPR000493(Inositol 1,4,5-trisphosphate-binding protein receptor)|interpro:IPR000699(Intracellular calcium-release channel)|interpro:IPR005821(Ion transport)|interpro:IPR013662(RyR and IP3R Homology associated)|interpro:IPR014821(Inositol 1,4,5-trisphosphate/ryanodine receptor)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR016093(MIR motif)|interpro:IPR035910|interpro:IPR036300|reactome:R-HSA-112043|reactome:R-HSA-114508|reactome:R-HSA-139853|reactome:R-HSA-1489509|go:"GO:0098695"(inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels)|reactome:R-HSA-2029485|reactome:R-HSA-2871809|reactome:R-HSA-381676|reactome:R-HSA-4086398|reactome:R-HSA-418457|reactome:R-HSA-422356|reactome:R-HSA-5218921|reactome:R-HSA-5578775|reactome:R-HSA-5607763|reactome:R-HSA-9664323|reactome:R-HSA-983695|refseq:NP_001093422.2|refseq:NP_002213.5|refseq:XP_011531985.1|dip:DIP-29714N|refseq:NP_001161744.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:54BRt783vU5D9fCHNO5uFJy1N7I9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:D6RAT0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-26961837|ensembl:ENSP00000421770|ensembl:ENSP00000426282 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:d6rat0_human(display_long)|uniprotkb:RPS3A(gene name)|psi-mi:RPS3A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000145425(gene)|ensembl:ENST00000506126(transcript)|ensembl:ENST00000514682(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030154"(cell differentiation)|interpro:IPR001593(Ribosomal protein S3Ae)|interpro:IPR018281|interpro:IPR027500 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nmsVY7SxpguJwfV0VSemxZrZhY89606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6NYC8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2557469|uniprotkb:A8MSS7|uniprotkb:Q8NDQ4|uniprotkb:A2AIB8|uniprotkb:Q9BRL9|uniprotkb:B7ZCV7|uniprotkb:Q8TF52|uniprotkb:Q6ZUJ6|uniprotkb:Q68CK8|uniprotkb:A4UBI6|uniprotkb:A6NCB7|uniprotkb:A2AB01|uniprotkb:Q6ZTV1|ensembl:ENSP00000274853|ensembl:ENSP00000373067|ensembl:ENSP00000382150|ensembl:ENSP00000383400|ensembl:ENSP00000388790|ensembl:ENSP00000400129|ensembl:ENSP00000400990|ensembl:ENSP00000404066|ensembl:ENSP00000405234|ensembl:ENSP00000412456|ensembl:ENSP00000413596|ensembl:ENSP00000416648|ensembl:ENSP00000480270 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ppr18_human(display_long)|uniprotkb:PPP1R18(gene name)|psi-mi:PPP1R18(display_short)|uniprotkb:HKMT1098(gene name synonym)|uniprotkb:KIAA1949(gene name synonym)|uniprotkb:Protein phosphatase 1 F-actin cytoskeleton-targeting subunit(gene name synonym)|uniprotkb:Protein phosphatase 1 regulatory subunit 18(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001128342.1|refseq:NP_597728.1|ensembl:ENSG00000146112(gene)|ensembl:ENSG00000206485(gene)|ensembl:ENSG00000225060(gene)|ensembl:ENSG00000229998(gene)|ensembl:ENST00000274853(transcript)|ensembl:ENST00000383573(transcript)|ensembl:ENST00000399199(transcript)|ensembl:ENST00000400554(transcript)|ensembl:ENST00000437121(transcript)|ensembl:ENST00000438815(transcript)|ensembl:ENST00000438945(transcript)|ensembl:ENSG00000230341(gene)|ensembl:ENST00000443517(transcript)|ensembl:ENSG00000234000(gene)|ensembl:ENST00000444206(transcript)|ensembl:ENST00000449705(transcript)|ensembl:ENST00000451544(transcript)|ensembl:ENST00000455935(transcript)|ensembl:ENST00000615527(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005856"(cytoskeleton)|go:"GO:0019902"(phosphatase binding)|interpro:IPR025903|interpro:IPR025907|interpro:IPR026671|mint:Q6NYC8 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:63zpNZuwQb7VD0pOrr6yaRpPNmA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q86V48 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350467|uniprotkb:Q5TH93|uniprotkb:Q8N4X3|uniprotkb:Q8TEH1|ensembl:ENSP00000303758|ensembl:ENSP00000393460 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:luzp1_human(display_long)|uniprotkb:LUZP1(gene name)|psi-mi:LUZP1(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001136018.1|refseq:NP_361013.3|refseq:XP_011540392.1|refseq:XP_011540393.1|ensembl:ENSG00000169641(gene)|ensembl:ENST00000302291(transcript)|ensembl:ENST00000418342(transcript)|go:"GO:0003281"(ventricular septum development)|go:"GO:0005634"(nucleus)|go:"GO:0016020"(membrane)|go:"GO:0021503"(neural fold bending)|go:"GO:0060840"(artery development)|go:"GO:0070062"(extracellular exosome)|interpro:IPR026734|mint:Q86V48|refseq:XP_016857741.1|dip:DIP-33113N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:l456S0i3H1z5fv6M4SNkdrls/c49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:K7EJV9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27047325|ensembl:ENSP00000465342 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:k7ejv9_human(display_long)|uniprotkb:RPL23A(gene name)|psi-mi:RPL23A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR019985|ensembl:ENSG00000198242(gene)|ensembl:ENST00000578181(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|go:"GO:0019843"(rRNA binding)|interpro:IPR001014(Ribosomal protein L23, conserved site)|interpro:IPR005633(Ribosomal protein L23/L25, N-terminal)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR012678(Ribosomal protein L23/L15e, core)|interpro:IPR013025(Ribosomal protein L25/L23) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:jiD2TPua+E02iWaXPiHHAsgXthA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P15880 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-443446|ensembl:ENSP00000341885|uniprotkb:Q3MIB1|uniprotkb:B2R5G0|uniprotkb:D3DU82 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs2_human(display_long)|uniprotkb:RPS2(gene name)|psi-mi:RPS2(display_short)|uniprotkb:RPS4(gene name synonym)|uniprotkb:40S ribosomal protein S4(gene name synonym)|uniprotkb:Protein LLRep3(gene name synonym)|uniprotkb:Small ribosomal subunit protein uS5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR014721(Ribosomal protein S5 domain 2-type fold)|rcsb pdb:6OLG|rcsb pdb:6OLI|interpro:IPR018192|rcsb pdb:6OLZ|interpro:IPR020568|mint:P15880|rcsb pdb:4UG0|rcsb pdb:6OM0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6EK0|rcsb pdb:6G18|rcsb pdb:6XA1|rcsb pdb:6G4S|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6G5H|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7JQB|rcsb pdb:7JQC|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-3214858|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-8876725|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:7A09|ensembl:ENSG00000140988(gene)|ensembl:ENST00000343262(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0017134"(fibroblast growth factor binding)|go:"GO:0019899"(enzyme binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0045296"(cadherin binding)|go:"GO:0051443"(positive regulation of ubiquitin-protein transferase activity)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000851(Ribosomal protein S5)|interpro:IPR005324(Ribosomal protein S5, C-terminal)|interpro:IPR005711(Ribosomal protein S5, eukaryotic/archaeal)|interpro:IPR013810(Ribosomal protein S5, N-terminal)|refseq:NP_002943.2 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:JUr2Y3cGk00S8KaTVPymshfaHhc9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62979 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357375|ensembl:ENSP00000272317|ensembl:ENSP00000383981|ensembl:ENSP00000385659|uniprotkb:P14798|uniprotkb:Q6LBL4|uniprotkb:Q9BQ77|uniprotkb:P02248|uniprotkb:P02249|uniprotkb:P02250|uniprotkb:P62988|uniprotkb:Q29120|uniprotkb:Q6LDU5|uniprotkb:Q8WYN8|uniprotkb:Q91887|uniprotkb:Q91888|uniprotkb:Q9BWD6|uniprotkb:Q9BX98|uniprotkb:Q9UEF2|uniprotkb:Q9UEG1|uniprotkb:Q9UEK8|uniprotkb:Q9UPK7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs27a_human(display_long)|uniprotkb:RPS27A(gene name)|psi-mi:RPS27A(display_short)|uniprotkb:UBA80(gene name synonym)|uniprotkb:UBCEP1(gene name synonym)|uniprotkb:Ubiquitin carboxyl extension protein 80(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8863795|reactome:R-HSA-8866652|reactome:R-HSA-8866654|reactome:R-HSA-8875360|reactome:R-HSA-8876493|reactome:R-HSA-8932339|reactome:R-HSA-8939236|reactome:R-HSA-8939902|reactome:R-HSA-8941858|reactome:R-HSA-8948747|reactome:R-HSA-8948751|reactome:R-HSA-8854050|reactome:R-HSA-8951664|reactome:R-HSA-901032|reactome:R-HSA-9010553|reactome:R-HSA-9013507|reactome:R-HSA-9013973|reactome:R-HSA-9014325|reactome:R-HSA-9020702|reactome:R-HSA-9033241|reactome:R-HSA-912631|reactome:R-HSA-917729|reactome:R-HSA-917937|reactome:R-HSA-936440|reactome:R-HSA-936964|reactome:R-HSA-937039|reactome:R-HSA-937041|reactome:R-HSA-937042|reactome:R-HSA-937072|reactome:R-HSA-9604323|reactome:R-HSA-9613829|reactome:R-HSA-9615710|reactome:R-HSA-9633012|reactome:R-HSA-9636383|reactome:R-HSA-9637628|reactome:R-HSA-9645460|reactome:R-HSA-9646399|reactome:R-HSA-9648002|reactome:R-HSA-9664873|reactome:R-HSA-9683683|reactome:R-HSA-9694493|reactome:R-HSA-9705462|reactome:R-HSA-9706369|reactome:R-HSA-9706377|reactome:R-HSA-9708530|reactome:R-HSA-975110|reactome:R-HSA-975163|reactome:R-HSA-975956|reactome:R-HSA-975957|reactome:R-HSA-977225|reactome:R-HSA-983168|reactome:R-HSA-975144|ensembl:ENSG00000143947(gene)|ensembl:ENST00000272317(transcript)|ensembl:ENST00000402285(transcript)|ensembl:ENST00000404735(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0019941"(modification-dependent protein catabolic process)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0010008"(endosome membrane)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0031386"(protein tag)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0031982"(vesicle)|go:"GO:0046872"(metal ion binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000626(Ubiquitin)|interpro:IPR002906(Ribosomal protein S27a)|interpro:IPR011332(Ribosomal protein, zinc-binding)|interpro:IPR019954|interpro:IPR019956|interpro:IPR029071|interpro:IPR038582|mint:P62979|rcsb pdb:2KHW|rcsb pdb:2KOX|rcsb pdb:2KTF|rcsb pdb:2KWU|rcsb pdb:2KWV|rcsb pdb:2L0F|rcsb pdb:2L0T|rcsb pdb:2XK5|rcsb pdb:3AXC|rcsb pdb:3I3T|rcsb pdb:3K9P|rcsb pdb:3N30|rcsb pdb:3N32|rcsb pdb:3NHE|rcsb pdb:3NOB|rcsb pdb:3NS8|rcsb pdb:3PHD|rcsb pdb:3PHW|rcsb pdb:3TBL|rcsb pdb:3VDZ|rcsb pdb:4R62|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:6G18|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:5A2Q|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:5AJ0|rcsb pdb:6IP8|rcsb pdb:6J99|rcsb pdb:5FLX|rcsb pdb:6KFP|rcsb pdb:5LKS|rcsb pdb:6KG6|rcsb pdb:6KIU|rcsb pdb:6KIV|rcsb pdb:6KIW|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6SQO|rcsb pdb:5T2C|rcsb pdb:5WVO|rcsb pdb:6SQR|rcsb pdb:6SQS|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:5YDK|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6DC6|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:7K5I|reactome:R-HSA-110312|reactome:R-HSA-110314|reactome:R-HSA-110320|reactome:R-HSA-1169091|reactome:R-HSA-1169408|reactome:R-HSA-1234176|reactome:R-HSA-1236382|reactome:R-HSA-1236974|reactome:R-HSA-1253288|reactome:R-HSA-1295596|reactome:R-HSA-1358803|reactome:R-HSA-156827|reactome:R-HSA-156902|rcsb pdb:6ZXF|reactome:R-HSA-162588|reactome:R-HSA-168638|reactome:R-HSA-168927|reactome:R-HSA-168928|rcsb pdb:6ZXG|reactome:R-HSA-174048|reactome:R-HSA-174084|reactome:R-HSA-174113|reactome:R-HSA-174154|reactome:R-HSA-174178|reactome:R-HSA-174184|rcsb pdb:6ZXH|reactome:R-HSA-174490|reactome:R-HSA-175474|reactome:R-HSA-179409|reactome:R-HSA-1799339|reactome:R-HSA-180534|reactome:R-HSA-180585|reactome:R-HSA-182971|reactome:R-HSA-187577|rcsb pdb:7A09|rcsb pdb:7BWD|reactome:R-HSA-192823|reactome:R-HSA-195253|reactome:R-HSA-201681|reactome:R-HSA-2565942|reactome:R-HSA-202424|reactome:R-HSA-205043|reactome:R-HSA-2644606|reactome:R-HSA-2672351|reactome:R-HSA-209543|reactome:R-HSA-209560|reactome:R-HSA-2691232|reactome:R-HSA-2871837|reactome:R-HSA-2894862|reactome:R-HSA-2979096|reactome:R-HSA-3134975|reactome:R-HSA-3322077|reactome:R-HSA-349425|reactome:R-HSA-211733|reactome:R-HSA-3769402|reactome:R-HSA-3785653|reactome:R-HSA-382556|reactome:R-HSA-400253|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-450408|reactome:R-HSA-2122947|reactome:R-HSA-4608870|reactome:R-HSA-4641257|reactome:R-HSA-2122948|reactome:R-HSA-4641258|reactome:R-HSA-2173788|reactome:R-HSA-4641263|reactome:R-HSA-5205685|reactome:R-HSA-532668|reactome:R-HSA-2173791|reactome:R-HSA-5357905|reactome:R-HSA-2173795|reactome:R-HSA-2173796|reactome:R-HSA-2408557|reactome:R-HSA-2467813|reactome:R-HSA-5357956|reactome:R-HSA-5358346|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-5362768|reactome:R-HSA-5607761|reactome:R-HSA-2559585|reactome:R-HSA-5607764|reactome:R-HSA-5610780|reactome:R-HSA-5610783|reactome:R-HSA-5610785|reactome:R-HSA-5632684|reactome:R-HSA-5654726|reactome:R-HSA-5654727|reactome:R-HSA-5654732|reactome:R-HSA-5654733|reactome:R-HSA-5655862|reactome:R-HSA-5656169|reactome:R-HSA-5656121|reactome:R-HSA-5658442|reactome:R-HSA-5668541|reactome:R-HSA-5675221|reactome:R-HSA-5675482|reactome:R-HSA-5676590|reactome:R-HSA-5678895|reactome:R-HSA-5684264|reactome:R-HSA-5685942|reactome:R-HSA-5687128|reactome:R-HSA-5689603|reactome:R-HSA-5689877|reactome:R-HSA-5689880|reactome:R-HSA-5689896|reactome:R-HSA-5689901|reactome:R-HSA-5693565|reactome:R-HSA-5693607|reactome:R-HSA-5696394|reactome:R-HSA-5696395|reactome:R-HSA-5696397|reactome:R-HSA-5696400|reactome:R-HSA-6781823|reactome:R-HSA-6781827|reactome:R-HSA-6782135|reactome:R-HSA-6782210|reactome:R-HSA-6783310|reactome:R-HSA-6791226|reactome:R-HSA-6804756|reactome:R-HSA-6804757|reactome:R-HSA-6804760|reactome:R-HSA-6807004|reactome:R-HSA-68827|reactome:R-HSA-68949|reactome:R-HSA-69017|reactome:R-HSA-69231|reactome:R-HSA-69481|reactome:R-HSA-69541|reactome:R-HSA-69601|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-75815|reactome:R-HSA-8849469|reactome:R-HSA-8852276|refseq:NP_001129064.1|refseq:NP_001170884.1|refseq:NP_002945.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2LSJafy6vjKHYZcZVx8zZaOXRis9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y4K1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-5453777|uniprotkb:B4DU04|uniprotkb:O00296|uniprotkb:Q5VWJ2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:crbg1_human(display_long)|uniprotkb:CRYBG1(gene name)|psi-mi:CRYBG1(display_short)|uniprotkb:AIM1(gene name synonym)|uniprotkb:Absent in melanoma 1 protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001615.2|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR000772(Ricin B lectin)|rcsb pdb:2DAD|rcsb pdb:3CW3|interpro:IPR035992|rcsb pdb:6VRO|go:"GO:0030246"(carbohydrate binding) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:mdQxrU/fgkY/DzoaZsyeED+jPFk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P08708 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358255|uniprotkb:B2R4U4|intact:EBI-8012092|intact:EBI-11603362|intact:MINT-8395037|uniprotkb:P0CW22|ensembl:ENSP00000483755|ensembl:ENSP00000498019 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs17_human(display_long)|uniprotkb:RPS17(gene name)|psi-mi:RPS17(display_short)|uniprotkb:Small ribosomal subunit protein eS17(gene name synonym)|uniprotkb:RPS17L(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001012.1|ensembl:ENSG00000182774(gene)|ensembl:ENSG00000278229(gene)|ensembl:ENST00000617731(transcript)|ensembl:ENST00000647841(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0006413"(translational initiation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0042274"(ribosomal small subunit biogenesis)|interpro:IPR001210(Ribosomal protein S17e)|interpro:IPR018273|interpro:IPR036401|mint:P08708|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|go:"GO:0034101"(erythrocyte homeostasis)|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBS|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:st+xQCXdSObiy6cJD1cSx869V289606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62241 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351811|uniprotkb:Q6IRL7|uniprotkb:P09058|ensembl:ENSP00000379888 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs8_human(display_long)|uniprotkb:RPS8(gene name)|psi-mi:RPS8(display_short)|uniprotkb:Small ribosomal subunit protein eS8(gene name synonym)|uniprotkb:OK/SW-cl.83(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001003.1|ensembl:ENSG00000142937(gene)|ensembl:ENST00000396651(transcript)|go:"GO:0000462"("maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)")|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001047(Ribosomal protein S8e)|interpro:IPR018283|interpro:IPR022309|interpro:IPR042563|mint:P62241|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:6G5H|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975957|reactome:R-HSA-975956 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3rpCBdQyRWR+TCKnupbnCp30jKE9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6FI13 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353620|uniprotkb:P20670|uniprotkb:B2R5F0|ensembl:ENSP00000358155|ensembl:ENSP00000475814 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h2a2a_human(display_long)|uniprotkb:H2AC18(gene name)|psi-mi:H2AC18(display_short)|uniprotkb:H2AC19(gene name)|psi-mi:H2AC19(display_short)|uniprotkb:H2A-clustered histone 18(gene name synonym)|uniprotkb:H2A-clustered histone 19(gene name synonym)|uniprotkb:H2AFO(gene name synonym)|uniprotkb:HIST2H2AA(gene name synonym)|uniprotkb:HIST2H2AA3(gene name synonym)|uniprotkb:HIST2H2AA4(gene name synonym)|uniprotkb:Histone H2A.2(gene name synonym)|uniprotkb:Histone H2A/o(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001035807.1|refseq:NP_003507.1|ensembl:ENSG00000203812(gene)|ensembl:ENSG00000272196(gene)|ensembl:ENST00000369159(transcript)|ensembl:ENST00000607355(transcript)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006342"|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002119(Histone H2A)|interpro:IPR007125(Histone core)|interpro:IPR009072(Histone-fold)|interpro:IPR032454|interpro:IPR032458|rcsb pdb:6SE6|rcsb pdb:6SEE|rcsb pdb:6SEF|rcsb pdb:6SEG|rcsb pdb:6Y5D|rcsb pdb:7JZV|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214815|reactome:R-HSA-3214847|reactome:R-HSA-3214858|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-5689603|reactome:R-HSA-5689880|reactome:R-HSA-5689901|reactome:R-HSA-606279|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9609690|reactome:R-HSA-9610379|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-977225|dip:DIP-33167N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:PMuIm2XMN5q4wk+wYJ94mmnCe4w9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P23396 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351193|uniprotkb:Q498B5|uniprotkb:Q8NI95|uniprotkb:B2R7N5|ensembl:ENSP00000433821|ensembl:ENSP00000434643|ensembl:ENSP00000436971|uniprotkb:J3KN86 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs3_human(display_long)|uniprotkb:RPS3(gene name)|psi-mi:RPS3(display_short)|uniprotkb:Small ribosomal subunit protein uS3(gene name synonym)|uniprotkb:OK/SW-cl.26(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000996.2|ensembl:ENSG00000149273(gene)|ensembl:ENST00000524851(transcript)|ensembl:ENST00000527446(transcript)|ensembl:ENST00000531188(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003677"(DNA binding)|go:"GO:0003684"(damaged DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0003906"("DNA-(apurinic or apyrimidinic site) endonuclease activity")|go:"GO:0004520"(endodeoxyribonuclease activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005743"(mitochondrial inner membrane)|go:"GO:0005759"(mitochondrial matrix)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005844"(polysome)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006281"(DNA repair)|go:"GO:0006412"(translation)|go:"GO:0006413"(translational initiation)|go:"GO:0006915"(apoptotic process)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0007059"(chromosome segregation)|go:"GO:0008017"(microtubule binding)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015631"(tubulin binding)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0019899"(enzyme binding)|go:"GO:0019900"(kinase binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031116"(positive regulation of microtubule polymerization)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0031397"(negative regulation of protein ubiquitination)|go:"GO:0032079"(positive regulation of endodeoxyribonuclease activity)|go:"GO:0032357"(oxidized purine DNA binding)|go:"GO:0032358"(oxidized pyrimidine DNA binding)|go:"GO:0032587"(ruffle membrane)|go:"GO:0032743"(positive regulation of interleukin-2 production)|go:"GO:0034614"(cellular response to reactive oxygen species)|go:"GO:0042104"(positive regulation of activated T cell proliferation)|go:"GO:0042769"(obsolete DNA damage response, detection of DNA damage)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043507"(positive regulation of JUN kinase activity)|go:"GO:0044390"(ubiquitin-like protein conjugating enzyme binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045738"(negative regulation of DNA repair)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0045739"(positive regulation of DNA repair)|go:"GO:0050862"(positive regulation of T cell receptor signaling pathway)|go:"GO:0051018"(protein kinase A binding)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051225"(spindle assembly)|go:"GO:0051301"(cell division)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:0051536"(iron-sulfur cluster binding)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0061481"(response to TNF agonist)|go:"GO:1902231"(positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage)|go:"GO:1902546"(positive regulation of DNA N-glycosylase activity)|go:"GO:1905053"(positive regulation of base-excision repair)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2001235"(positive regulation of apoptotic signaling pathway)|go:"GO:2001272"(positive regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001351(Ribosomal protein S3, C-terminal)|go:"GO:0070181"(small ribosomal subunit rRNA binding)|interpro:IPR004044(K Homology, type 2)|go:"GO:0070301"(cellular response to hydrogen peroxide)|interpro:IPR005703(Ribosomal protein S3, eukaryotic/archaeal)|go:"GO:0071159"(NF-kappaB complex)|interpro:IPR009019(K Homology, prokaryotic type)|interpro:IPR015946(K homology-like, alpha/beta)|go:"GO:0071356"(cellular response to tumor necrosis factor)|interpro:IPR018280|interpro:IPR036419|mint:P23396|rcsb pdb:1WH9|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|go:"GO:0072686"(mitotic spindle)|go:"GO:0097100"(supercoiled DNA binding)|rcsb pdb:6QZP|go:"GO:0140078"("class I DNA-(apurinic or apyrimidinic site) endonuclease activity")|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|refseq:NP_001243731.1|refseq:NP_001247436.1|refseq:NP_001247435.1|dip:DIP-33177N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fsDW18AMR3YyEEIhMVcngYRWkps9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P25398 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354542|uniprotkb:Q76M58|ensembl:ENSP00000230050 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs12_human(display_long)|uniprotkb:RPS12(gene name)|psi-mi:RPS12(display_short)|uniprotkb:Small ribosomal subunit protein eS12(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001007.2|ensembl:ENSG00000112306(gene)|ensembl:ENST00000230050(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|interpro:IPR000530(Ribosomal protein S12e)|interpro:IPR004038(Ribosomal protein L7Ae/L30e/S12e/Gadd45)|interpro:IPR029064|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72702|reactome:R-HSA-72695|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:80AIouzSdCvnLUSA7qsMp6naZ3g9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P47755 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-762451|uniprotkb:B4DG50|ensembl:ENSP00000354947 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:caza2_human(display_long)|uniprotkb:CapZ alpha-2(gene name synonym)|uniprotkb:CAPZA2(gene name)|psi-mi:CAPZA2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006127.1|ensembl:ENSG00000198898(gene)|ensembl:ENST00000361183(transcript)|go:"GO:0005576"(extracellular region)|go:"GO:0005829"(cytosol)|go:"GO:0005903"(brush border)|go:"GO:0008290"(F-actin capping protein complex)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002189(F-actin capping protein, alpha subunit)|interpro:IPR017865|interpro:IPR037282|interpro:IPR042276|interpro:IPR042489|mint:P47755|reactome:R-HSA-2132295|reactome:R-HSA-3371497|reactome:R-HSA-6807878|reactome:R-HSA-6811436|reactome:R-HSA-879415|reactome:R-HSA-9662360|reactome:R-HSA-983231|go:"GO:0016020"(membrane) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7+0w8fJ0OowIwAC7/tdNqiGSepc9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62857 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353027|ensembl:ENSP00000472469|uniprotkb:P25112 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs28_human(display_long)|uniprotkb:RPS28(gene name)|psi-mi:RPS28(display_short)|uniprotkb:Small ribosomal subunit protein eS28(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 mint:P62857|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4S|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|ensembl:ENSG00000233927(gene)|ensembl:ENST00000600659(transcript)|go:"GO:0000028"(ribosomal small subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030490"(maturation of SSU-rRNA)|go:"GO:0042254"(ribosome biogenesis)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098556"(cytoplasmic side of rough endoplasmic reticulum membrane)|interpro:IPR000289(Ribosomal protein S28e)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR028626|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZM7|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|refseq:NP_001022.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:G4t8mOlzIiHEOXu+uS+AfySWAnM9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y2D5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1754555|uniprotkb:Q9UG26|uniprotkb:B1ALX9|uniprotkb:B2RTU4|uniprotkb:B3KQ00|uniprotkb:B4DTZ2|uniprotkb:B7ZW07|uniprotkb:B9EJB5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:akap2_human(display_long)|uniprotkb:AKAP2(gene name)|psi-mi:AKAP2(display_short)|uniprotkb:KIAA0920(gene name synonym)|uniprotkb:Protein kinase A-anchoring protein 2(gene name synonym)|uniprotkb:AKAP-KL(gene name synonym)|uniprotkb:PRKA2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001004065.2|refseq:NP_001130034.1|refseq:NP_001185585.1|refseq:NP_009134.1|refseq:NP_671492.1|interpro:IPR029304 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:xfHb6tD0ToXJPHpl4MlbKczjzSg9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62424 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354172|uniprotkb:P11518|uniprotkb:Q5T8U4|ensembl:ENSP00000361076|ensembl:ENSP00000487443 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl7a_human(display_long)|uniprotkb:RPL7A(gene name)|psi-mi:RPL7A(display_short)|uniprotkb:SURF-3(gene name synonym)|uniprotkb:SURF3(gene name synonym)|uniprotkb:Surfeit locus protein 3(gene name synonym)|uniprotkb:PLA-X polypeptide(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL8(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000963.1|dip:DIP-31502N|ensembl:ENSG00000148303(gene)|ensembl:ENSG00000280858(gene)|ensembl:ENST00000323345(transcript)|ensembl:ENST00000630979(transcript)|go:"GO:0000470"(maturation of LSU-rRNA)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045296"(cadherin binding)|interpro:IPR001921(Ribosomal protein L7A)|interpro:IPR004037(Ribosomal protein L7Ae)|interpro:IPR004038(Ribosomal protein L7Ae/L30e/S12e/Gadd45)|interpro:IPR018492|interpro:IPR029064|mint:P62424|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|go:"GO:0005634"(nucleus)|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:shPtLmc+oabT/rSwho+tP1iJy4k9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3KRX5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044183|ensembl:ENSP00000462203 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3krx5_human(display_long)|uniprotkb:RPL17(gene name)|psi-mi:RPL17(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000265681(gene)|ensembl:ENST00000583637(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0006412"(translation)|go:"GO:0015934"(large ribosomal subunit)|interpro:IPR001063(Ribosomal protein L22/L17)|interpro:IPR018260|interpro:IPR036394|interpro:IPR005721(Ribosomal protein L22/L17, eukaryotic/archaeal) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:1AdD2EtesCPZ9VXQOU5UauzxscY9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q69YQ0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351113|uniprotkb:O15081|intact:EBI-10965349|uniprotkb:B7Z758|uniprotkb:F5H1H6|ensembl:ENSP00000325785|ensembl:ENSP00000393363|ensembl:ENSP00000439633 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cytsa_human(display_long)|uniprotkb:SPECC1L(gene name)|psi-mi:SPECC1L(display_short)|uniprotkb:Renal carcinoma antigen NY-REN-22(gene name synonym)|uniprotkb:CYTSA(gene name synonym)|uniprotkb:KIAA0376(gene name synonym)|uniprotkb:Sperm antigen with calponin homology and coiled-coil domains 1-like(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_056145.4|refseq:NP_001241661.2|dip:DIP-33173N|ensembl:ENSG00000100014(gene)|ensembl:ENST00000314328(transcript)|ensembl:ENST00000437398(transcript)|ensembl:ENST00000541492(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005819"(spindle)|go:"GO:0005921"(gap junction)|go:"GO:0007049"(cell cycle)|go:"GO:0007155"(cell adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0031941"(filamentous actin)|go:"GO:0051301"(cell division)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR036872|interpro:IPR040166|mint:Q69YQ0 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iYg2RCRo/dMtmwyppU7ywkhkolI9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P12814 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351710|uniprotkb:Q9BTN1|uniprotkb:Q1HE25|uniprotkb:B7TY16|intact:EBI-3866221|uniprotkb:B3V8S3|uniprotkb:B4DHH3|ensembl:ENSP00000193403 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actn1_human(display_long)|uniprotkb:ACTN1(gene name)|psi-mi:ACTN1(display_short)|uniprotkb:Alpha-actinin cytoskeletal isoform(gene name synonym)|uniprotkb:Non-muscle alpha-actinin-1(gene name synonym)|uniprotkb:F-actin cross-linking protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001093.1|refseq:NP_001123477.1|refseq:NP_001123476.1|dip:DIP-33184N|ensembl:ENSG00000072110(gene)|ensembl:ENST00000193403(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0001726"(ruffle)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005916"(fascia adherens)|go:"GO:0005925"(focal adhesion)|go:"GO:0007015"(actin filament organization)|go:"GO:0017166"(vinculin binding)|go:"GO:0030018"(Z disc)|go:"GO:0030220"(platelet formation)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0031093"(platelet alpha granule lumen)|go:"GO:0031143"(pseudopodium)|go:"GO:0036344"(platelet morphogenesis)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0042995"(cell projection)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0051015"(actin filament binding)|go:"GO:0051017"(actin filament bundle assembly)|go:"GO:0051271"(negative regulation of cellular component movement)|go:"GO:0051639"(actin filament network formation)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099186"(structural constituent of postsynapse)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR014837(EF-hand, Ca insensitive)|interpro:IPR018159|interpro:IPR018247|interpro:IPR036872|mint:P12814|rcsb pdb:2EYI|rcsb pdb:2EYN|rcsb pdb:2N8Y|rcsb pdb:2N8Z|reactome:R-HSA-114608|reactome:R-HSA-3000170|reactome:R-HSA-373753|reactome:R-HSA-446388|reactome:R-HSA-9013405|reactome:R-HSA-9013418|reactome:R-HSA-9035034 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:guTURyt26f1ort4NAlYyabNc+WE9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NZR1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-4289968|uniprotkb:B4DEW6|ensembl:ENSP00000249700 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tmod2_human(display_long)|uniprotkb:TMOD2(gene name)|psi-mi:TMOD2(display_short)|uniprotkb:NTMOD(gene name synonym)|uniprotkb:Neuronal tropomodulin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000128872(gene)|ensembl:ENST00000249700(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005523"(tropomyosin binding)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005865"(striated muscle thin filament)|go:"GO:0006936"(muscle contraction)|go:"GO:0007015"(actin filament organization)|go:"GO:0007270"(neuron-neuron synaptic transmission)|go:"GO:0007399"(nervous system development)|go:"GO:0007611"(learning or memory)|go:"GO:0030016"(myofibril)|go:"GO:0030239"(myofibril assembly)|go:"GO:0030426"(growth cone)|go:"GO:0045202"(synapse)|go:"GO:0045745"(positive regulation of G protein-coupled receptor signaling pathway)|go:"GO:0051694"(pointed-end actin filament capping)|interpro:IPR004934(Tropomodulin)|interpro:IPR030130|interpro:IPR032675|reactome:R-HSA-390522|refseq:NP_001136357.1|refseq:NP_055363.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:km9yOQf3wlXkMxXa/wKFxquWej09606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62140 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352350|uniprotkb:P37140|uniprotkb:Q5U087|uniprotkb:Q6FG45|uniprotkb:D6W565|uniprotkb:B2R5V4|ensembl:ENSP00000296122|ensembl:ENSP00000351298|ensembl:ENSP00000378769 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pp1b_human(display_long)|uniprotkb:PPP1CB(gene name)|psi-mi:PPP1CB(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002700.1|refseq:NP_996759.1|ensembl:ENSG00000213639(gene)|ensembl:ENST00000296122(transcript)|ensembl:ENST00000358506(transcript)|ensembl:ENST00000395366(transcript)|go:"GO:0000164"(protein phosphatase type 1 complex)|go:"GO:0000165"(MAPK cascade)|go:"GO:0004722"(protein serine/threonine phosphatase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0005977"(glycogen metabolic process)|go:"GO:0005979"(regulation of glycogen biosynthetic process)|go:"GO:0005981"(regulation of glycogen catabolic process)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007049"(cell cycle)|go:"GO:0016791"(phosphatase activity)|go:"GO:0017018"(myosin phosphatase activity)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030155"(regulation of cell adhesion)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0042587"(glycogen granule)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0043153"(entrainment of circadian clock by photoperiod)|go:"GO:0046872"(metal ion binding)|go:"GO:0050115"(myosin-light-chain-phosphatase activity)|go:"GO:0051301"(cell division)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|go:"GO:0106306"|go:"GO:0106307"|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR006186("Serine/threonine-specific protein phosphatase and bis(5-nucleosyl)-tetraphosphatase")|interpro:IPR029052|interpro:IPR031675|mint:P62140|reactome:R-HSA-163560|reactome:R-HSA-2173788|reactome:R-HSA-2565942|reactome:R-HSA-400253|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|reactome:R-HSA-5673000|reactome:R-HSA-9660537|dip:DIP-33220N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:VtNJVyimeiEuRDDWtGswTqoSOH89606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P30050 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352743|uniprotkb:Q6PB27|uniprotkb:Q5VVV2|ensembl:ENSP00000354739 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl12_human(display_long)|uniprotkb:RPL12(gene name)|psi-mi:RPL12(display_short)|uniprotkb:Large ribosomal subunit protein uL11(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000967.1|ensembl:ENSG00000197958(gene)|ensembl:ENST00000361436(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015934"(large ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070180"(large ribosomal subunit rRNA binding)|interpro:IPR000911(Ribosomal protein L11)|interpro:IPR020783|interpro:IPR020784|interpro:IPR020785|interpro:IPR036769|interpro:IPR036796|mint:P30050|rcsb pdb:4V6X|rcsb pdb:5A8L|rcsb pdb:5AJ0|rcsb pdb:6OLG|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:TNPEtl60cILofaPzUznvZiw6D7E9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04843 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355963|ensembl:ENSP00000296255|uniprotkb:D3DNB6|uniprotkb:Q68DT1|uniprotkb:B2R5Z0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rpn1_human(display_long)|uniprotkb:RPN1(gene name)|psi-mi:RPN1(display_short)|uniprotkb:Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 67 kDa subunit(gene name synonym)|uniprotkb:Ribophorin-1(gene name synonym)|uniprotkb:Ribophorin I(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000163902(gene)|ensembl:ENST00000296255(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006487"(protein N-linked glycosylation)|go:"GO:0008250"(oligosaccharyltransferase complex)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0018279"(protein N-linked glycosylation via asparagine)|go:"GO:0042470"(melanosome)|interpro:IPR007676(Ribophorin I)|mint:P04843|rcsb pdb:6S7O|rcsb pdb:6S7T|reactome:R-HSA-1799339|reactome:R-HSA-446203|reactome:R-HSA-9694548|go:"GO:0006464"(cellular protein modification process)|refseq:NP_002941.1|dip:DIP-38152N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rvQThNB/dCCNR9+IDssZo1qgZUE9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P52907 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355586|uniprotkb:Q53FQ6|uniprotkb:Q6FHD5|ensembl:ENSP00000263168 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:caza1_human(display_long)|uniprotkb:CAPZA1(gene name)|psi-mi:CAPZA1(display_short)|uniprotkb:CapZ alpha-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006126.1|ensembl:ENSG00000116489(gene)|ensembl:ENST00000263168(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0008290"(F-actin capping protein complex)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0034329"(cell junction assembly)|go:"GO:0045296"(cadherin binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071203"(WASH complex)|interpro:IPR002189(F-actin capping protein, alpha subunit)|interpro:IPR017865|interpro:IPR037282|interpro:IPR042276|interpro:IPR042489|mint:P52907|rcsb pdb:1MQ1|rcsb pdb:1MWN|reactome:R-HSA-2132295|reactome:R-HSA-3371497|reactome:R-HSA-6807878|reactome:R-HSA-6811436|reactome:R-HSA-879415|reactome:R-HSA-8950505|reactome:R-HSA-9662360|reactome:R-HSA-983231 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:97S4WPtjgt4MDLoptRhQ2yH8UNE9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14573 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351055|uniprotkb:Q14649|uniprotkb:Q5TAQ2|intact:EBI-28978202|ensembl:ENSP00000363435|ensembl:ENSP00000475177 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:itpr3_human(display_long)|uniprotkb:ITPR3(gene name)|psi-mi:ITPR3(display_short)|uniprotkb:Type 3 inositol 1,4,5-trisphosphate receptor(gene name synonym)|uniprotkb:IP3 receptor isoform 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002215.2|ensembl:ENSP00000363435|ensembl:ENSP00000475177|ensembl:ENSG00000096433(gene)|ensembl:ENST00000374316(transcript)|ensembl:ENST00000605930(transcript)|go:"GO:0000822"(inositol hexakisphosphate binding)|go:"GO:0005220"(inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005640"(nuclear outer membrane)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007204"(positive regulation of cytosolic calcium ion concentration)|go:"GO:0015278"(calcium-release channel activity)|go:"GO:0016020"(membrane)|go:"GO:0016529"(sarcoplasmic reticulum)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0031095"(platelet dense tubular network membrane)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043209"(myelin sheath)|go:"GO:0043235"(receptor complex)|go:"GO:0043533"(inositol 1,3,4,5 tetrakisphosphate binding)|go:"GO:0045177"(apical part of cell)|go:"GO:0050913"(sensory perception of bitter taste)|go:"GO:0050916"(sensory perception of sweet taste)|go:"GO:0050917"(sensory perception of umami taste)|go:"GO:0051209"(release of sequestered calcium ion into cytosol)|go:"GO:0051592"(response to calcium ion)|go:"GO:0060291"(long-term synaptic potentiation)|go:"GO:0060402"(calcium ion transport into cytosol)|go:"GO:0070679"(inositol 1,4,5 trisphosphate binding)|interpro:IPR000493(Inositol 1,4,5-trisphosphate-binding protein receptor)|interpro:IPR000699(Intracellular calcium-release channel)|interpro:IPR005821(Ion transport)|interpro:IPR013662(RyR and IP3R Homology associated)|interpro:IPR014821(Inositol 1,4,5-trisphosphate/ryanodine receptor)|interpro:IPR016093(MIR motif)|interpro:IPR035910|interpro:IPR036300|mint:Q14573|rcsb pdb:6DQJ|rcsb pdb:6DQN|rcsb pdb:6DQS|rcsb pdb:6DQV|rcsb pdb:6DQZ|rcsb pdb:6DR0|rcsb pdb:6DR2|rcsb pdb:6DRA|rcsb pdb:6DRC|rcsb pdb:6UQK|reactome:R-HSA-112043|reactome:R-HSA-114508|reactome:R-HSA-139853|reactome:R-HSA-1489509|reactome:R-HSA-2029485|reactome:R-HSA-2871809|reactome:R-HSA-381676|reactome:R-HSA-4086398|reactome:R-HSA-422356|reactome:R-HSA-5218921|reactome:R-HSA-5578775|reactome:R-HSA-5607763|reactome:R-HSA-9664323|go:"GO:0007613"(memory)|reactome:R-HSA-983695 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:O+1OC4E0IrAOt+D672eXnhWHy3I9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UQ03 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-723376|uniprotkb:O94767|uniprotkb:Q8TAN1|uniprotkb:A8K0W3|ensembl:ENSP00000261861 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cor2b_human(display_long)|uniprotkb:Coronin-like protein C(gene name synonym)|uniprotkb:Protein FC96(gene name synonym)|uniprotkb:CORO2B(gene name)|psi-mi:CORO2B(display_short)|uniprotkb:KIAA0925(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001177385.1|refseq:NP_001177386.1|refseq:NP_006082.3|refseq:NP_001310943.1|refseq:NP_001310944.1|ensembl:ENSG00000103647(gene)|ensembl:ENST00000261861(transcript)|go:"GO:0003093"(regulation of glomerular filtration)|go:"GO:0003779"(actin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005925"(focal adhesion)|go:"GO:0010812"(negative regulation of cell-substrate adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0017166"(vinculin binding)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0032956"(regulation of actin cytoskeleton organization)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0051015"(actin filament binding)|go:"GO:0051497"(negative regulation of stress fiber assembly)|go:"GO:0080135"(regulation of cellular response to stress)|go:"GO:1904950"(negative regulation of establishment of protein localization)|go:"GO:1904951"(positive regulation of establishment of protein localization)|go:"GO:1990147"(talin binding)|interpro:IPR001680(WD40 repeat)|interpro:IPR015048(Region of unknown function DUF1899)|interpro:IPR015505(Coronin)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR027339|interpro:IPR036322 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:7KUlG6rFuomPMKz+8jqEzXKFsN89606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11940 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-81531|intact:EBI-28983164|ensembl:ENSP00000313007|ensembl:ENSP00000428749|ensembl:ENSP00000428840|ensembl:ENSP00000429119|ensembl:ENSP00000429790|ensembl:ENSP00000429892|ensembl:ENSP00000430012|uniprotkb:Q15097|uniprotkb:Q93004 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pabp1_human(display_long)|uniprotkb:PABPC1(gene name)|psi-mi:PABPC1(display_short)|uniprotkb:PAB1(gene name synonym)|uniprotkb:PABP1(gene name synonym)|uniprotkb:PABPC2(gene name synonym)|uniprotkb:PABP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 interpro:IPR006515(Polyadenylate binding protein, human types 1, 2, 3, 4)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979|interpro:IPR036053|mint:P11940|rcsb pdb:1CVJ|rcsb pdb:1G9L|rcsb pdb:1JGN|rcsb pdb:1JH4|rcsb pdb:2K8G|rcsb pdb:2RQG|rcsb pdb:2RQH|rcsb pdb:2X04|rcsb pdb:3KTP|rcsb pdb:3KTR|rcsb pdb:3KUI|rcsb pdb:3KUJ|rcsb pdb:3KUR|rcsb pdb:3KUS|rcsb pdb:3KUT|rcsb pdb:3PKN|interpro:IPR003954(RNA recognition, region 1)|rcsb pdb:3PTH|rcsb pdb:4F02|rcsb pdb:4F25|rcsb pdb:4F26|ensembl:ENSG00000070756(gene)|ensembl:ENST00000318607(transcript)|ensembl:ENST00000520142(transcript)|ensembl:ENST00000520804(transcript)|ensembl:ENST00000521865(transcript)|ensembl:ENST00000522658(transcript)|ensembl:ENST00000522720(transcript)|ensembl:ENST00000523555(transcript)|go:"GO:0000184"(nuclear-transcribed mRNA catabolic process, nonsense-mediated decay)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0016020"(membrane)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0030027"(lamellipodium)|go:"GO:0005634"(nucleus)|go:"GO:0031047"(gene silencing by RNA)|go:"GO:0031252"(cell leading edge)|go:"GO:0005737"(cytoplasm)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0045070"(positive regulation of viral genome replication)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006378"(mRNA polyadenylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008143"("poly(A) binding")|go:"GO:0048255"(mRNA stabilization)|go:"GO:0008266"("poly(U) RNA binding")|go:"GO:0008494"(translation activator activity)|go:"GO:0060213"("positive regulation of nuclear-transcribed mRNA poly(A) tail shortening")|go:"GO:0070062"(extracellular exosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1900153"(positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000623"(negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR002004(Polyadenylate-binding protein/Hyperplastic disc protein)|rcsb pdb:5DX1|refseq:NP_002559.2|rcsb pdb:5DX8|rcsb pdb:5DXA|rcsb pdb:5LGP|rcsb pdb:5LGQ|rcsb pdb:5LGR|rcsb pdb:5LGS|reactome:R-HSA-156827|reactome:R-HSA-429947|reactome:R-HSA-450408|reactome:R-HSA-72649|reactome:R-HSA-9010553|reactome:R-HSA-975956|reactome:R-HSA-975957|ensembl:ENSP00000313007|ensembl:ENSP00000430012|ensembl:ENSP00000428749|ensembl:ENSP00000429119|ensembl:ENSP00000428840|ensembl:ENSP00000429790|ensembl:ENSP00000429892|refseq:XP_005250918.1|dip:DIP-31613N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XudTSPq2h9ckKAc48X88RVafPRU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5T7N0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27046230|ensembl:ENSP00000359338 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:q5t7n0_human(display_long)|uniprotkb:RPL5(gene name)|psi-mi:RPL5(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000122406(gene)|ensembl:ENST00000315741(transcript)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005840"(ribosome)|go:"GO:0006412"(translation)|go:"GO:0008097"(5S rRNA binding)|interpro:IPR005485(Ribosomal protein L5, eukaryotic) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:G2WCoBiV7wnUmxmX2I09K6pee6E9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O43166 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-310678|uniprotkb:O95321|uniprotkb:Q9UDU4|uniprotkb:Q9UNU4|intact:EBI-11025469|intact:EBI-28973250|uniprotkb:J3KP19|ensembl:ENSP00000450832 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:si1l1_human(display_long)|uniprotkb:SIPA1L1(gene name)|psi-mi:SIPA1L1(display_short)|uniprotkb:E6TP1(gene name synonym)|uniprotkb:KIAA0440(gene name synonym)|uniprotkb:High-risk human papilloma viruses E6 oncoproteins targeted protein 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENST00000358550|ensembl:ENSP00000351352|ensembl:ENST00000381232|ensembl:ENSP00000370630|ensembl:ENSP00000450832|refseq:NP_001271174.1|refseq:NP_001271175.1|refseq:NP_056371.1|refseq:XP_005267573.1|refseq:XP_011534932.1|refseq:XP_011534933.1|refseq:XP_011534934.1|refseq:XP_011534937.1|refseq:XP_016876648.1|refseq:XP_016876649.1|refseq:XP_016876650.1|refseq:XP_016876651.1|refseq:XP_016876652.1|refseq:XP_016876653.1|refseq:XP_016876654.1|refseq:XP_016876655.1|refseq:XP_016876656.1|refseq:XP_016876657.1|refseq:XP_016876658.1|refseq:XP_016876659.1|refseq:XP_016876660.1|refseq:XP_016876661.1|refseq:XP_016876662.1|refseq:XP_016876663.1|refseq:XP_016876664.1|refseq:XP_016876665.1|refseq:XP_016876666.1|refseq:XP_016876667.1|refseq:XP_016876668.1|refseq:XP_016876669.1|refseq:XP_016876675.1|refseq:XP_016876676.1|refseq:XP_016876677.1|refseq:XP_016876678.1|refseq:XP_016876679.1|refseq:XP_016876680.1|refseq:XP_016876681.1|refseq:XP_016876682.1|ensembl:ENSG00000197555(gene)|ensembl:ENST00000555818(transcript)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0043087"(regulation of GTPase activity)|go:"GO:0043197"(dendritic spine)|go:"GO:0046875"(ephrin receptor binding)|go:"GO:0048013"(ephrin receptor signaling pathway)|go:"GO:0048167"(regulation of synaptic plasticity)|go:"GO:0048814"(regulation of dendrite morphogenesis)|go:"GO:0050770"(regulation of axonogenesis)|go:"GO:0051056"(regulation of small GTPase mediated signal transduction)|go:"GO:0061001"(regulation of dendritic spine morphogenesis)|go:"GO:0090630"(activation of GTPase activity)|interpro:IPR000331(Rap/ran-GAP)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR021818|interpro:IPR030770|interpro:IPR035974|interpro:IPR036034|mint:O43166|reactome:R-HSA-6794361 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:whpEjAhxfeYqeZ1IbjNl6romgXk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9ULJ8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2515561|ensembl:ENSP00000344524|ensembl:ENSP00000398870|uniprotkb:O76059|uniprotkb:Q9NXT2|uniprotkb:F8W7J9|uniprotkb:A1L494|uniprotkb:B2RWQ1|uniprotkb:E9PCA0|uniprotkb:E9PCK6|uniprotkb:E9PDX1|intact:EBI-11031420 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:neb1_human(display_long)|uniprotkb:PPP1R9A(gene name)|psi-mi:PPP1R9A(display_short)|uniprotkb:KIAA1222(gene name synonym)|uniprotkb:Neurabin-I(gene name synonym)|uniprotkb:Neural tissue-specific F-actin-binding protein I(gene name synonym)|uniprotkb:Protein phosphatase 1 regulatory subunit 9A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000158528(gene)|ensembl:ENST00000340694(transcript)|ensembl:ENST00000433881(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007015"(actin filament organization)|go:"GO:0007568"(aging)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008157"(protein phosphatase 1 binding)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0019722"(calcium-mediated signaling)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030175"(filopodium)|go:"GO:0030425"(dendrite)|go:"GO:0030833"(regulation of actin filament polymerization)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031175"(neuron projection development)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0044326"(dendritic spine neck)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0051015"(actin filament binding)|go:"GO:0051020"(GTPase binding)|go:"GO:0051489"(regulation of filopodium assembly)|go:"GO:0051497"(negative regulation of stress fiber assembly)|go:"GO:0051823"(regulation of synapse structural plasticity)|go:"GO:0051963"(regulation of synapse assembly)|go:"GO:0060079"(excitatory postsynaptic potential)|go:"GO:0060999"(positive regulation of dendritic spine development)|go:"GO:0061001"(regulation of dendritic spine morphogenesis)|go:"GO:0097237"(cellular response to toxic substance)|go:"GO:0098871"(postsynaptic actin cytoskeleton)|go:"GO:0098974"(postsynaptic actin cytoskeleton organization)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1900272"(negative regulation of long-term synaptic potentiation)|go:"GO:1900454"(positive regulation of long-term synaptic depression)|go:"GO:1904049"(negative regulation of spontaneous neurotransmitter secretion)|go:"GO:1990761"(growth cone lamellipodium)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR001660(Sterile alpha motif SAM)|go:"GO:0019901"(protein kinase binding)|interpro:IPR029994|interpro:IPR036034|interpro:IPR040645|interpro:IPR043446|mint:Q9ULJ8|rcsb pdb:1WF8|interpro:IPR013761(Sterile alpha motif-type)|refseq:XP_016867892.1|refseq:XP_016867894.1|refseq:XP_016867895.1|refseq:NP_001159632.1|refseq:NP_001159633.1|refseq:NP_001159634.1|refseq:NP_060120.2|refseq:NP_001159635.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:WoKc99IJ5LLtXFS0vmzxpg8CgHc9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BUF5 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356735|uniprotkb:Q9HA42|ensembl:ENSP00000318697|uniprotkb:B3KM76 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb6_human(display_long)|uniprotkb:TUBB6(gene name)|psi-mi:TUBB6(display_short)|uniprotkb:Tubulin beta class V(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000176014(gene)|ensembl:ENST00000317702(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|refseq:NP_115914.1|interpro:IPR036525|interpro:IPR037103|mint:Q9BUF5|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|refseq:NP_001290453.1|refseq:NP_001290454.1|refseq:NP_001290455.1|refseq:NP_001290456.1|refseq:NP_001290457.1|refseq:NP_001290458.1|refseq:NP_001290459.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/IC9o8wSAOu+lNgq44Qqu5hEof49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62081 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354360|uniprotkb:Q6IPH1|uniprotkb:P23821|uniprotkb:P24818|uniprotkb:Q57Z92|ensembl:ENSP00000385018|ensembl:ENSP00000385286|ensembl:ENSP00000495273|ensembl:ENSP00000496654|ensembl:ENSP00000496757 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rs7_human(display_long)|uniprotkb:RPS7(gene name)|psi-mi:RPS7(display_short)|uniprotkb:Small ribosomal subunit protein eS7(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001002.1|ensembl:ENSG00000171863(gene)|ensembl:ENST00000403564(transcript)|ensembl:ENST00000406376(transcript)|ensembl:ENST00000462576(transcript)|ensembl:ENST00000645674(transcript)|ensembl:ENST00000646909(transcript)|go:"GO:0001843"(neural tube closure)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0005840"(ribosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0006364"(rRNA processing)|go:"GO:0006412"(translation)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0022627"(cytosolic small ribosomal subunit)|go:"GO:0030154"(cell differentiation)|go:"GO:0032040"(small-subunit processome)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0045202"(synapse)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0050821"(protein stabilization)|go:"GO:1902255"(positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator)|go:"GO:1904667"(negative regulation of ubiquitin protein ligase activity)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:1990948"(ubiquitin ligase inhibitor activity)|go:"GO:2000059"(negative regulation of ubiquitin-dependent protein catabolic process)|interpro:IPR000554(Ribosomal protein S7e)|mint:P62081|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G4W|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBD|rcsb pdb:6YBW|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOK|rcsb pdb:6ZON|rcsb pdb:6ZP4|rcsb pdb:6ZUO|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6790901|reactome:R-HSA-6791226|reactome:R-HSA-72649|reactome:R-HSA-72689|reactome:R-HSA-72695|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6G4S intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:l4aG6I34lmzYhNapbdv2CAAwRwg9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P47756 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353595|uniprotkb:Q5U0L4|uniprotkb:Q8TB49|uniprotkb:Q9NUC4|uniprotkb:Q32Q68|ensembl:ENSP00000364284|ensembl:ENSP00000501528 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:capzb_human(display_long)|uniprotkb:CAPZB(gene name)|psi-mi:CAPZB(display_short)|uniprotkb:CapZ beta(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001193469.1|refseq:NP_004921.1|go:"GO:0045296"(cadherin binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0051490"(negative regulation of filopodium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071203"(WASH complex)|go:"GO:0097224"(sperm connecting piece)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0098686"(hippocampal mossy fiber to CA3 synapse)|interpro:IPR001698(F-actin capping protein, beta subunit)|interpro:IPR019771|interpro:IPR037282|interpro:IPR042276|interpro:IPR043175|mint:P47756|reactome:R-HSA-2132295|reactome:R-HSA-3371497|reactome:R-HSA-6807878|reactome:R-HSA-6811436|reactome:R-HSA-9013405|reactome:R-HSA-9035034|reactome:R-HSA-9662360|reactome:R-HSA-983231|ensembl:ENSG00000077549(gene)|ensembl:ENST00000375142(transcript)|ensembl:ENST00000674432(transcript)|go:"GO:0000902"(cell morphogenesis)|go:"GO:0003779"(actin binding)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005903"(brush border)|go:"GO:0007010"(cytoskeleton organization)|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0008290"(F-actin capping protein complex)|go:"GO:0010591"(regulation of lamellipodium assembly)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0022604"(regulation of cell morphogenesis)|go:"GO:0030017"(sarcomere)|go:"GO:0030027"(lamellipodium)|go:"GO:0030032"(lamellipodium assembly)|go:"GO:0030863"(cortical cytoskeleton)|refseq:NP_001269091.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qRXsrB2fLT1DMVIVRWKFYe4Aln49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P05388 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354101|uniprotkb:Q9BVK4|intact:EBI-8012155|intact:MINT-8395053|uniprotkb:Q3B7A4|ensembl:ENSP00000339027|ensembl:ENSP00000376299|ensembl:ENSP00000449328 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rla0_human(display_long)|uniprotkb:RPLP0(gene name)|psi-mi:RPLP0(display_short)|uniprotkb:60S ribosomal protein L10E(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000993.1|refseq:NP_444505.1|ensembl:ENSG00000089157(gene)|ensembl:ENST00000228306(transcript)|ensembl:ENST00000392514(transcript)|ensembl:ENST00000551150(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0030425"(dendrite)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070180"(large ribosomal subunit rRNA binding)|go:"GO:0071353"(cellular response to interleukin-4)|go:"GO:0098794"(postsynapse)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001790(Ribosomal protein L10)|interpro:IPR030670|interpro:IPR040637|interpro:IPR043141|interpro:IPR043164|mint:P05388|rcsb pdb:4V6W|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:6OLG|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-8950505|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:xv3QHqnXxvCd3BOIeHVkqEnSNNk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13885 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-711595|ensembl:ENSP00000369703|uniprotkb:Q6FGZ8|uniprotkb:Q8IWR2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb2a_human(display_long)|uniprotkb:TUBB2A(gene name)|psi-mi:TUBB2A(display_short)|uniprotkb:TUBB2(gene name synonym)|uniprotkb:Tubulin beta class IIa(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-389957|reactome:R-HSA-983189|reactome:R-HSA-9668328|ensembl:ENSG00000137267(gene)|ensembl:ENST00000333628(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0001764"(neuron migration)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903561"(extracellular vesicle)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:Q13885|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|refseq:NP_001060.1|refseq:NP_001297244.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XN9uTGU0KxQjMod0AGnM+XJoHyk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62805 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-302023|ensembl:ENSP00000244537|ensembl:ENSP00000347168|ensembl:ENSP00000350767|ensembl:ENSP00000366974|ensembl:ENSP00000366956|ensembl:ENSP00000462667|ensembl:ENSP00000367034|ensembl:ENSP00000478519|ensembl:ENSP00000478786|ensembl:ENSP00000443017|ensembl:ENSP00000462355|ensembl:ENSP00000479106|ensembl:ENSP00000479461|uniprotkb:A2VCL0|uniprotkb:P02304|uniprotkb:P02305|uniprotkb:Q6DRA9|uniprotkb:Q6FGB8|uniprotkb:Q6NWP7|ensembl:ENSP00000479794|ensembl:ENSP00000480960|ensembl:ENSP00000481343|ensembl:ENSP00000481486|ensembl:ENSP00000481507|ensembl:ENSP00000482412|ensembl:ENSP00000484789|ensembl:ENSP00000489319|ensembl:ENSP00000489567 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:h4_human(display_long)|uniprotkb:H4-16(gene name)|psi-mi:H4-16(display_short)|uniprotkb:H4C1(gene name)|psi-mi:H4C1(display_short)|uniprotkb:H4C11(gene name)|psi-mi:H4C11(display_short)|uniprotkb:H4C12(gene name)|psi-mi:H4C12(display_short)|uniprotkb:H4C13(gene name)|psi-mi:H4C13(display_short)|uniprotkb:H4C14(gene name)|psi-mi:H4C14(display_short)|uniprotkb:H4C15(gene name)|psi-mi:H4C15(display_short)|uniprotkb:H4C2(gene name)|psi-mi:H4C2(display_short)|uniprotkb:H4C3(gene name)|psi-mi:H4C3(display_short)|uniprotkb:H4C4(gene name)|psi-mi:H4C4(display_short)|uniprotkb:H4C5(gene name)|psi-mi:H4C5(display_short)|uniprotkb:H4C6(gene name)|psi-mi:H4C6(display_short)|uniprotkb:H4C8(gene name)|psi-mi:H4C8(display_short)|uniprotkb:H4C9(gene name)|psi-mi:H4C9(display_short)|uniprotkb:H4/A(gene name synonym)|uniprotkb:H4/B(gene name synonym)|uniprotkb:H4/C(gene name synonym)|uniprotkb:H4/D(gene name synonym)|uniprotkb:H4/E(gene name synonym)|uniprotkb:H4/G(gene name synonym)|uniprotkb:H4/H(gene name synonym)|uniprotkb:H4/I(gene name synonym)|uniprotkb:H4/J(gene name synonym)|uniprotkb:H4/K(gene name synonym)|uniprotkb:H4/M(gene name synonym)|uniprotkb:H4/N(gene name synonym)|uniprotkb:H4/O(gene name synonym)|uniprotkb:H4F2(gene name synonym)|uniprotkb:H4FA(gene name synonym)|uniprotkb:H4FB(gene name synonym)|uniprotkb:H4FC(gene name synonym)|uniprotkb:H4FD(gene name synonym)|uniprotkb:H4FE(gene name synonym)|uniprotkb:H4FG(gene name synonym)|uniprotkb:H4FH(gene name synonym)|uniprotkb:H4FI(gene name synonym)|uniprotkb:H4FJ(gene name synonym)|uniprotkb:H4FK(gene name synonym)|uniprotkb:H4FM(gene name synonym)|uniprotkb:H4FN(gene name synonym)|uniprotkb:H4FO(gene name synonym)|uniprotkb:HIST1H4A(gene name synonym)|uniprotkb:HIST1H4B(gene name synonym)|uniprotkb:HIST1H4C(gene name synonym)|uniprotkb:HIST1H4D(gene name synonym)|uniprotkb:HIST1H4E(gene name synonym)|uniprotkb:HIST1H4F(gene name synonym)|uniprotkb:HIST1H4H(gene name synonym)|uniprotkb:HIST1H4I(gene name synonym)|uniprotkb:HIST1H4J(gene name synonym)|uniprotkb:HIST1H4K(gene name synonym)|uniprotkb:HIST1H4L(gene name synonym)|uniprotkb:HIST2H4(gene name synonym)|uniprotkb:HIST2H4A(gene name synonym)|uniprotkb:HIST2H4B(gene name synonym)|uniprotkb:HIST4H4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000197061(gene)|ensembl:ENSG00000276180(gene)|ensembl:ENSG00000197238(gene)|ensembl:ENSG00000276966(gene)|ensembl:ENSG00000277157(gene)|ensembl:ENSG00000270276(gene)|ensembl:ENSG00000197837(gene)|ensembl:ENSG00000270882(gene)|ensembl:ENSG00000278637(gene)|ensembl:ENSG00000273542(gene)|ensembl:ENSG00000274618(gene)|ensembl:ENSG00000278705(gene)|ensembl:ENSG00000275126(gene)|ensembl:ENSG00000158406(gene)|dip:DIP-33079N|ensembl:ENST00000244537(transcript)|ensembl:ENST00000355057(transcript)|ensembl:ENST00000358064(transcript)|ensembl:ENST00000377727(transcript)|ensembl:ENST00000377745(transcript)|ensembl:ENST00000377803(transcript)|ensembl:ENST00000539745(transcript)|ensembl:ENST00000578186(transcript)|ensembl:ENST00000579512(transcript)|ensembl:ENST00000611927(transcript)|ensembl:ENST00000612061(transcript)|ensembl:ENST00000613412(transcript)|ensembl:ENST00000614247(transcript)|ensembl:ENST00000614272(transcript)|ensembl:ENST00000615164(transcript)|ensembl:ENST00000615353(transcript)|ensembl:ENST00000617569(transcript)|ensembl:ENST00000618193(transcript)|ensembl:ENST00000618305(transcript)|ensembl:ENST00000621520(transcript)|ensembl:ENST00000634560(transcript)|ensembl:ENST00000634956(transcript)|go:"GO:0000228"(nuclear chromosome)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0006335"(DNA replication-dependent chromatin assembly)|go:"GO:0006336"(DNA replication-independent chromatin assembly)|go:"GO:0006352"(DNA-templated transcription, initiation)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0032200"(telomere organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0045653"(negative regulation of megakaryocyte differentiation)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0005576"(extracellular region)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001951(Histone H4)|interpro:IPR004823("TATA box binding protein associated factor (TAF)")|rcsb pdb:3AZE|rcsb pdb:3AZF|rcsb pdb:3AZG|rcsb pdb:3AZH|rcsb pdb:3AZI|rcsb pdb:3AYW|rcsb pdb:3AZJ|rcsb pdb:3AZK|rcsb pdb:3AZL|rcsb pdb:3AZM|rcsb pdb:3AZN|rcsb pdb:3CFS|rcsb pdb:3CFV|rcsb pdb:3F9W|rcsb pdb:3F9X|rcsb pdb:3F9Y|rcsb pdb:3F9Z|rcsb pdb:3IJ1|rcsb pdb:3JPX|rcsb pdb:3NQJ|rcsb pdb:3NQU|rcsb pdb:3O36|rcsb pdb:3QBY|rcsb pdb:3QZS|rcsb pdb:3QZT|rcsb pdb:3QZV|rcsb pdb:3R45|rcsb pdb:3UVW|rcsb pdb:3UVX|rcsb pdb:3UVY|rcsb pdb:3UW9|rcsb pdb:3W96|rcsb pdb:3W97|rcsb pdb:3W98|rcsb pdb:3W99|rcsb pdb:3WA9|rcsb pdb:3WAA|rcsb pdb:3WKJ|rcsb pdb:3WTP|rcsb pdb:3X1S|rcsb pdb:3X1T|rcsb pdb:3X1U|rcsb pdb:3X1V|rcsb pdb:4GQB|rcsb pdb:4H9N|rcsb pdb:4H9O|rcsb pdb:4H9P|rcsb pdb:4H9Q|rcsb pdb:4H9R|rcsb pdb:4H9S|rcsb pdb:4HGA|rcsb pdb:4M38|rcsb pdb:4N3W|rcsb pdb:4N4F|rcsb pdb:4QUT|rcsb pdb:4QUU|rcsb pdb:4QYD|rcsb pdb:4U9W|rcsb pdb:4YM5|rcsb pdb:4YM6|rcsb pdb:4YY6|rcsb pdb:4YYD|rcsb pdb:4YYG|rcsb pdb:4YYH|rcsb pdb:4YYI|rcsb pdb:4YYJ|rcsb pdb:4YYK|rcsb pdb:4YYM|rcsb pdb:4YYN|rcsb pdb:4Z2M|rcsb pdb:4Z5T|rcsb pdb:5AV5|rcsb pdb:5AV6|rcsb pdb:5AV8|rcsb pdb:5AV9|rcsb pdb:5AVB|rcsb pdb:5AVC|rcsb pdb:5AY8|rcsb pdb:5B0Y|rcsb pdb:5B0Z|rcsb pdb:5B24|rcsb pdb:5B2I|rcsb pdb:5B2J|rcsb pdb:5B31|rcsb pdb:5B32|rcsb pdb:5B33|rcsb pdb:5B40|rcsb pdb:5BNV|rcsb pdb:5BNX|rcsb pdb:5BO0|rcsb pdb:5C3I|rcsb pdb:5CPI|interpro:IPR019809|interpro:IPR035425|mint:P62805|rcsb pdb:1ZKK|rcsb pdb:2BQZ|rcsb pdb:2CV5|rcsb pdb:2IG0|rcsb pdb:2KWN|rcsb pdb:2KWO|rcsb pdb:2LVM|rcsb pdb:2QQS|rcsb pdb:2RJE|rcsb pdb:2RNY|interpro:IPR009072(Histone-fold)|rcsb pdb:2RS9|rcsb pdb:3A6N|rcsb pdb:3AFA|rcsb pdb:3AN2|rcsb pdb:3AV1|rcsb pdb:3AV2|rcsb pdb:5GT3|rcsb pdb:5GTC|rcsb pdb:5GXQ|rcsb pdb:5JA4|rcsb pdb:5JRG|rcsb pdb:5KDM|rcsb pdb:5TEG|rcsb pdb:5X7X|rcsb pdb:5XF3|rcsb pdb:5XF4|rcsb pdb:5XF5|rcsb pdb:5Y0C|rcsb pdb:5Y0D|rcsb pdb:5YE3|rcsb pdb:5YE4|rcsb pdb:5Z23|rcsb pdb:5Z30|rcsb pdb:5ZBX|rcsb pdb:5ZGC|rcsb pdb:5CPJ|rcsb pdb:6A5L|rcsb pdb:6A5O|rcsb pdb:5CPK|rcsb pdb:6A5P|rcsb pdb:5FA5|rcsb pdb:6A5R|rcsb pdb:6A5T|rcsb pdb:6A5U|rcsb pdb:6ACP|rcsb pdb:6BUZ|rcsb pdb:6C0W|rcsb pdb:6E0C|rcsb pdb:6E0P|rcsb pdb:6FML|rcsb pdb:6HKT|rcsb pdb:6HTS|rcsb pdb:6INQ|rcsb pdb:6IR9|rcsb pdb:6J4W|rcsb pdb:6J4X|rcsb pdb:6J4Y|rcsb pdb:6J4Z|rcsb pdb:6J50|rcsb pdb:6J51|rcsb pdb:6JOU|rcsb pdb:6JR0|rcsb pdb:6JR1|rcsb pdb:6K1I|rcsb pdb:6K1J|rcsb pdb:6K1K|rcsb pdb:6KE9|rcsb pdb:6KVD|rcsb pdb:6KXV|rcsb pdb:6L49|rcsb pdb:6L4A|rcsb pdb:6L9H|rcsb pdb:6L9Z|rcsb pdb:6LA2|rcsb pdb:6LA8|rcsb pdb:6LA9|rcsb pdb:6LAB|rcsb pdb:6LE9|rcsb pdb:6LER|rcsb pdb:6M3V|rcsb pdb:6M44|rcsb pdb:6M4D|rcsb pdb:5FFW|rcsb pdb:5FWE|rcsb pdb:5GSE|rcsb pdb:5GSU|rcsb pdb:5GT0|rcsb pdb:6M4G|rcsb pdb:6M4H|rcsb pdb:6MLC|rcsb pdb:6MUO|rcsb pdb:6MUP|rcsb pdb:6O1D|rcsb pdb:6R0C|rcsb pdb:6R8Y|rcsb pdb:6R8Z|rcsb pdb:6R90|rcsb pdb:6R91|refseq:NP_001029249.1|refseq:NP_003486.1|refseq:NP_003529.1|refseq:NP_003530.1|refseq:NP_003531.1|refseq:NP_003532.1|refseq:NP_003533.1|refseq:NP_003534.1|refseq:NP_003535.1|refseq:NP_003536.1|refseq:NP_003537.1|refseq:NP_003539.1|rcsb pdb:6R92|rcsb pdb:6R93|rcsb pdb:6R94|rcsb pdb:6RNY|rcsb pdb:6RXS|rcsb pdb:6SE0|rcsb pdb:6SE6|rcsb pdb:6SEE|rcsb pdb:6SEF|rcsb pdb:6SEG|rcsb pdb:6T79|rcsb pdb:6T7A|rcsb pdb:6T7B|rcsb pdb:6T7C|rcsb pdb:6T7D|rcsb pdb:6T90|rcsb pdb:6T93|rcsb pdb:6UPK|rcsb pdb:6UPL|rcsb pdb:6USJ|rcsb pdb:6V2K|rcsb pdb:6V92|rcsb pdb:6VO5|rcsb pdb:6X59|rcsb pdb:6X5A|rcsb pdb:6XJD|rcsb pdb:6Y5D|rcsb pdb:6YOV|rcsb pdb:7A08|rcsb pdb:7BWD|rcsb pdb:7BXT|rcsb pdb:7BY0|rcsb pdb:7C0M|rcsb pdb:7CCQ|rcsb pdb:7CCR|rcsb pdb:7CIZ|rcsb pdb:7CJ0|rcsb pdb:7D1Z|rcsb pdb:7D20|rcsb pdb:7DBP|rcsb pdb:7JO9|rcsb pdb:7JOA|rcsb pdb:7JZV|rcsb pdb:7K5X|rcsb pdb:7K5Y|rcsb pdb:7K60|rcsb pdb:7K61|rcsb pdb:7K63|rcsb pdb:7LMK|rcsb pdb:7LMM|rcsb pdb:7LYC|reactome:R-HSA-110328|reactome:R-HSA-110329|reactome:R-HSA-110330|reactome:R-HSA-110331|reactome:R-HSA-1221632|reactome:R-HSA-171306|reactome:R-HSA-1912408|reactome:R-HSA-201722|reactome:R-HSA-212300|reactome:R-HSA-2299718|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559586|reactome:R-HSA-3214815|reactome:R-HSA-3214841|reactome:R-HSA-3214842|reactome:R-HSA-3214847|reactome:R-HSA-3214858|reactome:R-HSA-427359|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-4551638|reactome:R-HSA-5250924|reactome:R-HSA-5334118|reactome:R-HSA-5578749|reactome:R-HSA-5617472|reactome:R-HSA-5625886|reactome:R-HSA-5693565|refseq:NP_068803.1|refseq:NP_778224.1|reactome:R-HSA-5693571|reactome:R-HSA-5693607|reactome:R-HSA-606279|reactome:R-HSA-69473|reactome:R-HSA-73728|reactome:R-HSA-73772|reactome:R-HSA-8936459|reactome:R-HSA-8939236|reactome:R-HSA-9018519|reactome:R-HSA-912446|reactome:R-HSA-9609690|reactome:R-HSA-9610379|reactome:R-HSA-9616222|reactome:R-HSA-9670095|reactome:R-HSA-9710421|reactome:R-HSA-977225 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LZSfhrpw0PcDREEoJ1UMkBvnUfA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P39023 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1056348|uniprotkb:Q15548|uniprotkb:Q5I0G0|uniprotkb:B2RDV9|ensembl:ENSP00000346001 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl3_human(display_long)|uniprotkb:RPL3(gene name)|psi-mi:RPL3(display_short)|uniprotkb:HIV-1 TAR RNA-binding protein B(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL3(gene name synonym)|uniprotkb:OK/SW-cl.32(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000958.1|ensembl:ENSG00000100316(gene)|ensembl:ENST00000216146(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0032991"(protein-containing complex)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071353"(cellular response to interleukin-4)|interpro:IPR000597(Ribosomal protein L3)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR019926|mint:P39023|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:j3MVAYfO/bziJBPmH4zCFqFskZ89606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P63244 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-296739|ensembl:ENSP00000426909|uniprotkb:P25388|uniprotkb:P99049|intact:EBI-923003|uniprotkb:B3KTJ0|uniprotkb:Q53HU2|uniprotkb:Q5J8M6|uniprotkb:Q5VLR4|uniprotkb:Q6FH47|intact:EBI-2559282|uniprotkb:D3DWS0 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rack1_human(display_long)|uniprotkb:Small ribosomal subunit protein RACK1(gene name synonym)|uniprotkb:HLC7(orf name)|uniprotkb:PIG21(orf name)|uniprotkb:RACK1(gene name)|psi-mi:RACK1(display_short)|uniprotkb:Cell proliferation-inducing gene 21 protein(gene name synonym)|uniprotkb:GNB2L1(gene name synonym)|uniprotkb:Guanine nucleotide-binding protein subunit beta-2-like 1(gene name synonym)|uniprotkb:Guanine nucleotide-binding protein subunit beta-like protein 12.3(gene name synonym)|uniprotkb:Human lung cancer oncogene 7 protein(gene name synonym)|uniprotkb:Receptor for activated C kinase(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:4AOW|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|rcsb pdb:5AJ0|rcsb pdb:5FLX|rcsb pdb:5LKS|rcsb pdb:5OA3|rcsb pdb:5T2C|rcsb pdb:5VYC|rcsb pdb:6EK0|mint:P63244|rcsb pdb:6FEC|rcsb pdb:6G18|rcsb pdb:6G51|rcsb pdb:6G53|rcsb pdb:6G5H|rcsb pdb:6G5I|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6YBS|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZLW|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:6ZMT|rcsb pdb:6ZMW|rcsb pdb:6ZN5|rcsb pdb:6ZOJ|rcsb pdb:6ZOL|rcsb pdb:6ZON|rcsb pdb:6ZP4|ensembl:ENSG00000204628(gene)|ensembl:ENST00000512805(transcript)|go:"GO:0001891"(phagocytic cup)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|go:"GO:0006919"(activation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0007049"(cell cycle)|go:"GO:0007369"(gastrulation)|go:"GO:0008200"(ion channel inhibitor activity)|go:"GO:0008656"(cysteine-type endopeptidase activator activity involved in apoptotic process)|rcsb pdb:6ZV6|rcsb pdb:6ZVH|rcsb pdb:6ZVJ|rcsb pdb:6ZXD|rcsb pdb:6ZXE|rcsb pdb:6ZXF|rcsb pdb:6ZXG|rcsb pdb:6ZXH|rcsb pdb:7A09|rcsb pdb:7K5I|reactome:R-HSA-5357905|reactome:R-HSA-5357956|reactome:R-HSA-5626978|rcsb pdb:6ZUO|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0019899"(enzyme binding)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0030178"(negative regulation of Wnt signaling pathway)|go:"GO:0030292"(protein tyrosine kinase inhibitor activity)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0030332"(cyclin binding)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030425"(dendrite)|go:"GO:0030496"(midbody)|go:"GO:0030971"(receptor tyrosine kinase binding)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032436"(positive regulation of proteasomal ubiquitin-dependent protein catabolic process)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0033137"(negative regulation of peptidyl-serine phosphorylation)|go:"GO:0035591"(signaling adaptor activity)|go:"GO:0042169"(SH2 domain binding)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043022"(ribosome binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0042998"(positive regulation of Golgi to plasma membrane protein transport)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043204"(perikaryon)|go:"GO:0043473"(pigmentation)|go:"GO:0043547"(positive regulation of GTPase activity)|go:"GO:0045296"(cadherin binding)|go:"GO:0045879"(negative regulation of smoothened signaling pathway)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048511"(rhythmic process)|go:"GO:0050765"(negative regulation of phagocytosis)|go:"GO:0051302"(regulation of cell division)|go:"GO:0051343"(positive regulation of cyclic-nucleotide phosphodiesterase activity)|go:"GO:0051434"(BH3 domain binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0051898"(negative regulation of protein kinase B signaling)|go:"GO:0051901"(positive regulation of mitochondrial depolarization)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071333"(cellular response to glucose stimulus)|go:"GO:0071363"(cellular response to growth factor stimulus)|go:"GO:0072344"(rescue of stalled ribosome)|go:"GO:1900102"(negative regulation of endoplasmic reticulum unfolded protein response)|go:"GO:1903208"(negative regulation of hydrogen peroxide-induced neuron death)|go:"GO:1990630"(IRE1-RACK1-PP2A complex)|go:"GO:2000114"(regulation of establishment of cell polarity)|go:"GO:2000543"(positive regulation of gastrulation)|go:"GO:2001244"(positive regulation of intrinsic apoptotic signaling pathway)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR020472|interpro:IPR036322|go:"GO:0060090"(molecular adaptor activity)|refseq:NP_006089.1|dip:DIP-46736N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LXHlhPtxUzHJNncoPteGw2iXsFg9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P02511 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-739060|uniprotkb:O43416|uniprotkb:B0YIX0|uniprotkb:Q9UC37|uniprotkb:Q9UC38|uniprotkb:Q9UC39|uniprotkb:Q9UC40|uniprotkb:Q9UC41|ensembl:ENSP00000227251|ensembl:ENSP00000433560|ensembl:ENSP00000434247|ensembl:ENSP00000435931|ensembl:ENSP00000436051|ensembl:ENSP00000436089|ensembl:ENSP00000437149|ensembl:ENSP00000483554|ensembl:ENSP00000498735|ensembl:ENSP00000499082 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cryab_human(display_long)|uniprotkb:CRYAB(gene name)|psi-mi:CRYAB(display_short)|uniprotkb:CRYA2(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-27(gene name synonym)|uniprotkb:"Alpha(B)-crystallin"(gene name synonym)|uniprotkb:Rosenthal fiber component(gene name synonym)|uniprotkb:Heat shock protein beta-5(gene name synonym)|uniprotkb:HSPB5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000109846(gene)|ensembl:ENST00000227251(transcript)|ensembl:ENST00000526180(transcript)|ensembl:ENST00000527899(transcript)|ensembl:ENST00000527950(transcript)|ensembl:ENST00000531198(transcript)|ensembl:ENST00000533475(transcript)|ensembl:ENST00000533879(transcript)|ensembl:ENST00000616970(transcript)|ensembl:ENST00000650687(transcript)|ensembl:ENST00000651164(transcript)|go:"GO:0001540"(amyloid-beta binding)|go:"GO:0001666"(response to hypoxia)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006457"(protein folding)|go:"GO:0006936"(muscle contraction)|go:"GO:0007021"(tubulin complex assembly)|go:"GO:0007517"(muscle organ development)|go:"GO:0008017"(microtubule binding)|go:"GO:0009986"(cell surface)|go:"GO:0010259"(multicellular organism aging)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0010941"(regulation of cell death)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0030018"(Z disc)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0030424"(axon)|go:"GO:0031109"(microtubule polymerization or depolymerization)|go:"GO:0031333"(negative regulation of protein-containing complex assembly)|go:"GO:0031430"(M band)|go:"GO:0032355"(response to estradiol)|go:"GO:0032387"(negative regulation of intracellular transport)|go:"GO:0032432"(actin filament bundle)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042542"(response to hydrogen peroxide)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043154"(negative regulation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051403"(stress-activated MAPK cascade)|go:"GO:0060561"(apoptotic process involved in morphogenesis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0071480"(cellular response to gamma radiation)|go:"GO:0097060"(synaptic membrane)|go:"GO:0097512"(cardiac myofibril)|go:"GO:1905907"(negative regulation of amyloid fibril formation)|go:"GO:2000378"(negative regulation of reactive oxygen species metabolic process)|interpro:IPR001436(Alpha crystallin/Heat shock protein)|interpro:IPR002068(Heat shock protein Hsp20)|interpro:IPR003090(Alpha-crystallin, N-terminal)|interpro:IPR008978(HSP20-like chaperone)|interpro:IPR037882|mint:P02511|rcsb pdb:2KLR|rcsb pdb:2N0K|rcsb pdb:2WJ7|rcsb pdb:2Y1Y|rcsb pdb:2Y1Z|rcsb pdb:2YGD|rcsb pdb:3J07|rcsb pdb:2Y22|rcsb pdb:3L1G|rcsb pdb:3SGM|rcsb pdb:3SGN|rcsb pdb:3SGO|rcsb pdb:3SGP|rcsb pdb:3SGR|rcsb pdb:3SGS|rcsb pdb:4M5S|rcsb pdb:4M5T|rcsb pdb:5VVV|rcsb pdb:6BP9|reactome:R-HSA-3371571|refseq:NP_001876.1|refseq:XP_011540910.1|refseq:NP_001276736.1|refseq:NP_001276737.1|dip:DIP-35017N intact:EBI-27046166(see-also) - crc64:AE08BED46B7849CB figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:495Z42oQhkAUdADrAEOKIC5oICo9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P04792 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352682|uniprotkb:Q6FI47|uniprotkb:Q96C20|uniprotkb:Q96EI7|uniprotkb:Q9UC34|uniprotkb:Q9UC35|uniprotkb:Q9UC36|uniprotkb:Q9UC31|ensembl:ENSP00000248553|uniprotkb:B2R4N8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hspb1_human(display_long)|uniprotkb:HSPB1(gene name)|psi-mi:HSPB1(display_short)|uniprotkb:HSP27(gene name synonym)|uniprotkb:HSP28(gene name synonym)|uniprotkb:Heat shock 27 kDa protein(gene name synonym)|uniprotkb:Stress-responsive protein 27(gene name synonym)|uniprotkb:Estrogen-regulated 24 kDa protein(gene name synonym)|uniprotkb:28 kDa heat shock protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001531.1|ensembl:ENSG00000106211(gene)|ensembl:ENST00000248553(transcript)|go:"GO:0000502"(proteasome complex)|go:"GO:0001895"(retina homeostasis)|go:"GO:0001932"(regulation of protein phosphorylation)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005819"(spindle)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006446"(regulation of translational initiation)|go:"GO:0006469"(negative regulation of protein kinase activity)|go:"GO:0006986"(response to unfolded protein)|go:"GO:0008426"(protein kinase C inhibitor activity)|go:"GO:0009615"(response to virus)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030018"(Z disc)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0035924"(cellular response to vascular endothelial growth factor stimulus)|go:"GO:0038033"(positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043122"(regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043130"(ubiquitin binding)|go:"GO:0043536"(positive regulation of blood vessel endothelial cell migration)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0045766"(positive regulation of angiogenesis)|go:"GO:0061077"(chaperone-mediated protein folding)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0099641"(anterograde axonal protein transport)|go:"GO:1902176"(negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway)|go:"GO:1904115"(axon cytoplasm)|go:"GO:2001028"(positive regulation of endothelial cell chemotaxis)|interpro:IPR001436(Alpha crystallin/Heat shock protein)|interpro:IPR002068(Heat shock protein Hsp20)|interpro:IPR008978(HSP20-like chaperone)|interpro:IPR037876|mint:P04792|rcsb pdb:2N3J|rcsb pdb:3Q9P|rcsb pdb:3Q9Q|rcsb pdb:4MJH|rcsb pdb:6DV5|rcsb pdb:6GJH|reactome:R-HSA-4420097|reactome:R-HSA-450408|reactome:R-HSA-5687128|reactome:R-HSA-9009391|dip:DIP-412N intact:EBI-27046166(see-also) - crc64:1B4DC44A6F6606D5 figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:vrDXIdzP30aHSDLHOh2D4x54eJY9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:B4DR52 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-21357538 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:b4dr52_human(display_long) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0000786"(nucleosome)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0046982"(protein heterodimerization activity)|rcsb pdb:7BG9|interpro:IPR009072(Histone-fold)|interpro:IPR007125(Histone core)|interpro:IPR000558(Histone H2B) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:yuMvD088vLfoSAYLEcV3evV+1T09606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P0DP23 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25817233|ensembl:ENSP00000349467|intact:EBI-28973196|uniprotkb:P02593|uniprotkb:P62158|uniprotkb:P70667|uniprotkb:P99014|uniprotkb:Q13942|uniprotkb:Q53S29|uniprotkb:Q61379|uniprotkb:Q61380|uniprotkb:Q96HK3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:calm1_human(display_long)|uniprotkb:CALM1(gene name)|psi-mi:CALM1(display_short)|uniprotkb:CALM(gene name synonym)|uniprotkb:CAM(gene name synonym)|uniprotkb:CAM1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:2I08|rcsb pdb:2JZI|rcsb pdb:2K0E|rcsb pdb:2K0F|rcsb pdb:2K0J|rcsb pdb:2K61|rcsb pdb:2KNE|rcsb pdb:2KUG|rcsb pdb:2KUH|rcsb pdb:2L53|rcsb pdb:2L7L|rcsb pdb:2LGF|rcsb pdb:2LL6|rcsb pdb:2LL7|rcsb pdb:2LQC|rcsb pdb:2LQP|rcsb pdb:2LV6|rcsb pdb:2M0J|rcsb pdb:2M0K|rcsb pdb:2M55|rcsb pdb:2MG5|rcsb pdb:2N27|rcsb pdb:2N6A|rcsb pdb:2N77|rcsb pdb:2N8J|rcsb pdb:2R28|rcsb pdb:2V01|rcsb pdb:2V02|rcsb pdb:2VAY|rcsb pdb:2HF5|rcsb pdb:2W73|rcsb pdb:2WEL|rcsb pdb:2X0G|go:"GO:0098901"(regulation of cardiac muscle cell action potential)|go:"GO:0140056"(organelle localization by membrane tethering)|go:"GO:1900242"(regulation of synaptic vesicle endocytosis)|go:"GO:1901842"(negative regulation of high voltage-gated calcium channel activity)|go:"GO:1901844"(regulation of cell communication by electrical coupling involved in cardiac conduction)|go:"GO:1902494"(catalytic complex)|go:"GO:1905913"(negative regulation of calcium ion export across plasma membrane)|go:"GO:1990456"(mitochondrion-endoplasmic reticulum membrane tethering)|go:"GO:2000300"(regulation of synaptic vesicle exocytosis)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR018247|mint:P0DP23|rcsb pdb:1AJI|rcsb pdb:1CDL|rcsb pdb:1CLL|rcsb pdb:1CTR|rcsb pdb:1IWQ|rcsb pdb:1J7O|rcsb pdb:1J7P|rcsb pdb:1K90|go:"GO:0097718"(disordered domain specific binding)|rcsb pdb:1K93|rcsb pdb:1L7Z|rcsb pdb:1LVC|ensembl:ENSG00000198668(gene)|ensembl:ENST00000356978(transcript)|go:"GO:0000086"(G2/M transition of mitotic cell cycle)|go:"GO:0000922"(spindle pole)|go:"GO:0001975"(response to amphetamine)|go:"GO:0002027"(regulation of heart rate)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005513"(detection of calcium ion)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005876"(spindle microtubule)|go:"GO:0005886"(plasma membrane)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007190"(activation of adenylate cyclase activity)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0008179"(adenylate cyclase binding)|go:"GO:0010800"(positive regulation of peptidyl-threonine phosphorylation)|go:"GO:0010801"(negative regulation of peptidyl-threonine phosphorylation)|go:"GO:0010856"(adenylate cyclase activator activity)|go:"GO:0010880"(regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum)|go:"GO:0010881"(regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion)|go:"GO:0016240"(autophagosome membrane docking)|go:"GO:0019855"(calcium channel inhibitor activity)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0021762"(substantia nigra development)|go:"GO:0030017"(sarcomere)|go:"GO:0030234"(enzyme regulator activity)|go:"GO:0030235"(nitric-oxide synthase regulator activity)|go:"GO:0030426"(growth cone)|go:"GO:0031432"(titin binding)|go:"GO:0031800"(type 3 metabotropic glutamate receptor binding)|go:"GO:0031954"(positive regulation of protein autophosphorylation)|go:"GO:0031966"(mitochondrial membrane)|go:"GO:0031982"(vesicle)|go:"GO:0031997"(N-terminal myristoylation domain binding)|go:"GO:0032465"(regulation of cytokinesis)|go:"GO:0032516"(positive regulation of phosphoprotein phosphatase activity)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034704"(calcium channel complex)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0043209"(myelin sheath)|go:"GO:0043388"(positive regulation of DNA binding)|go:"GO:0043539"(protein serine/threonine kinase activator activity)|go:"GO:0043548"(phosphatidylinositol 3-kinase binding)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0048306"(calcium-dependent protein binding)|go:"GO:0050848"(regulation of calcium-mediated signaling)|go:"GO:0050998"(nitric-oxide synthase binding)|go:"GO:0051000"(positive regulation of nitric-oxide synthase activity)|go:"GO:0051343"(positive regulation of cyclic-nucleotide phosphodiesterase activity)|go:"GO:0051412"(response to corticosterone)|go:"GO:0051592"(response to calcium ion)|go:"GO:0055117"(regulation of cardiac muscle contraction)|go:"GO:0060314"(regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0060315"(negative regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0060316"(positive regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0071902"(positive regulation of protein serine/threonine kinase activity)|go:"GO:0072542"(protein phosphatase activator activity)|go:"GO:0090151"(establishment of protein localization to mitochondrial membrane)|go:"GO:0030672"(synaptic vesicle membrane)|rcsb pdb:1PK0|rcsb pdb:1S26|rcsb pdb:1SK6|rcsb pdb:1SW8|rcsb pdb:1UP5|rcsb pdb:1WRZ|rcsb pdb:1XFU|rcsb pdb:1XFV|rcsb pdb:1XFW|rcsb pdb:1XFX|rcsb pdb:1XFY|rcsb pdb:1XFZ|rcsb pdb:1Y6W|rcsb pdb:1YR5|rcsb pdb:1YRT|rcsb pdb:1YRU|rcsb pdb:1ZOT|rcsb pdb:1ZUZ|rcsb pdb:2BE6|rcsb pdb:1NKF|rcsb pdb:2F3Y|rcsb pdb:2F3Z|rcsb pdb:2Y4V|rcsb pdb:3DVE|rcsb pdb:3DVJ|rcsb pdb:3DVK|rcsb pdb:3DVM|rcsb pdb:3EWT|rcsb pdb:3EWV|rcsb pdb:3G43|rcsb pdb:3HR4|rcsb pdb:3J41|rcsb pdb:3O77|rcsb pdb:3O78|rcsb pdb:3OXQ|rcsb pdb:3SUI|rcsb pdb:3UCT|rcsb pdb:3UCW|rcsb pdb:3UCY|rcsb pdb:4BW7|rcsb pdb:4BW8|rcsb pdb:4BYF|rcsb pdb:4DCK|rcsb pdb:4DJC|rcsb pdb:4GOW|rcsb pdb:4JPZ|rcsb pdb:4JQ0|rcsb pdb:4L79|rcsb pdb:4LZX|rcsb pdb:4M1L|rcsb pdb:4OVN|rcsb pdb:4Q57|rcsb pdb:4Q5U|rcsb pdb:4UMO|rcsb pdb:4UPU|rcsb pdb:4V0C|rcsb pdb:5COC|rcsb pdb:3BYA|rcsb pdb:5DBR|rcsb pdb:5DOW|rcsb pdb:5DSU|rcsb pdb:5GGM|rcsb pdb:5I0I|rcsb pdb:5J03|rcsb pdb:5J8H|rcsb pdb:5JQA|rcsb pdb:5JTH|rcsb pdb:5K7L|rcsb pdb:5K8Q|rcsb pdb:5OEO|rcsb pdb:5TP5|rcsb pdb:5TP6|rcsb pdb:5V02|rcsb pdb:5V03|rcsb pdb:5V7X|rcsb pdb:5WBX|rcsb pdb:5WC5|rcsb pdb:6B8L|rcsb pdb:6B8M|rcsb pdb:6B8N|rcsb pdb:6B8P|rcsb pdb:6B8Q|rcsb pdb:6BUT|rcsb pdb:6C1D|rcsb pdb:6C1G|rcsb pdb:6C1H|rcsb pdb:6CNM|rcsb pdb:6CNN|rcsb pdb:6CNO|rcsb pdb:6DAD|rcsb pdb:6DAE|rcsb pdb:6DAF|rcsb pdb:6DAH|rcsb pdb:6E2F|rcsb pdb:6E2G|rcsb pdb:6EEB|rcsb pdb:6FEG|rcsb pdb:6FEH|rcsb pdb:6GDK|rcsb pdb:6GDL|rcsb pdb:6HCS|rcsb pdb:6HR1|rcsb pdb:6JI8|rcsb pdb:6JII|rcsb pdb:6JIU|rcsb pdb:6JIY|rcsb pdb:6JRS|rcsb pdb:6JV2|rcsb pdb:6K4K|rcsb pdb:6K4L|rcsb pdb:6K4R|rcsb pdb:6M2W|rcsb pdb:6M7H|rcsb pdb:6MUD|rcsb pdb:6MUE|rcsb pdb:6N5W|rcsb pdb:6O5G|rcsb pdb:6OS4|rcsb pdb:6PAW|rcsb pdb:6PBX|rcsb pdb:6PBY|rcsb pdb:6U39|rcsb pdb:6U3A|rcsb pdb:6U3B|rcsb pdb:6U3D|rcsb pdb:6UZZ|rcsb pdb:6V00|rcsb pdb:6V01|rcsb pdb:6X32|rcsb pdb:6X33|rcsb pdb:6X35|rcsb pdb:6X36|rcsb pdb:6XXX|rcsb pdb:6XY3|rcsb pdb:6XYR|rcsb pdb:6Y4P|rcsb pdb:6Y94|rcsb pdb:6Y95|rcsb pdb:6YNS|rcsb pdb:6YNU|rcsb pdb:6ZBI|rcsb pdb:7KL5|reactome:R-HSA-111932|reactome:R-HSA-111933|reactome:R-HSA-111957|reactome:R-HSA-111997|reactome:R-HSA-114608|reactome:R-HSA-1445148|reactome:R-HSA-442982|reactome:R-HSA-445355|reactome:R-HSA-451308|reactome:R-HSA-1474151|reactome:R-HSA-5210891|reactome:R-HSA-5218920|reactome:R-HSA-5218921|reactome:R-HSA-163615|reactome:R-HSA-180024|reactome:R-HSA-5576892|reactome:R-HSA-1855204|reactome:R-HSA-2025928|reactome:R-HSA-5578775|reactome:R-HSA-5607763|reactome:R-HSA-5626467|reactome:R-HSA-5627123|reactome:R-HSA-203615|reactome:R-HSA-2151201|reactome:R-HSA-2514859|reactome:R-HSA-5673000|reactome:R-HSA-2672351|reactome:R-HSA-5673001|reactome:R-HSA-6802946|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-2871809|reactome:R-HSA-4086398|reactome:R-HSA-70221|reactome:R-HSA-8876725|reactome:R-HSA-9009391|reactome:R-HSA-418359|reactome:R-HSA-425561|reactome:R-HSA-438066|reactome:R-HSA-442720|reactome:R-HSA-9022535|reactome:R-HSA-9022692|reactome:R-HSA-936837|reactome:R-HSA-9617324|reactome:R-HSA-9619229|reactome:R-HSA-9619483|reactome:R-HSA-9620244|reactome:R-HSA-9648002|reactome:R-HSA-9649948|reactome:R-HSA-9656223|reactome:R-HSA-9664323|reactome:R-HSA-983695|reactome:R-HSA-442729|refseq:NP_001316851.1|refseq:NP_001734.1|refseq:NP_005175.2|refseq:NP_008819.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:tTYcOd9bOh211njZVz7cYVybAMQ9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62158 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-397435|uniprotkb:P02593|uniprotkb:P70667|uniprotkb:P99014|uniprotkb:Q13942|uniprotkb:Q53S29|uniprotkb:Q61379|uniprotkb:Q61380|uniprotkb:Q96HK3|uniprotkb:P0DP25|uniprotkb:P0DP24|uniprotkb:P0DP23 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:calm_human(display_long)|uniprotkb:CALM1(gene name)|psi-mi:CALM1(display_short)|uniprotkb:CALM(gene name synonym)|uniprotkb:CAM(gene name synonym)|uniprotkb:CAM1(gene name synonym)|uniprotkb:CALM2(gene name)|psi-mi:CALM2(display_short)|uniprotkb:CAMB(gene name synonym)|uniprotkb:CALM3(gene name)|psi-mi:CALM3(display_short)|uniprotkb:CAM3(gene name synonym)|uniprotkb:CAMC(gene name synonym)|uniprotkb:CAMIII(gene name synonym)|uniprotkb:CAM2(gene name synonym)|uniprotkb:CALML2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 rcsb pdb:3SUI|rcsb pdb:2LGF|rcsb pdb:2LQC|rcsb pdb:2LQP|rcsb pdb:2Y4V|rcsb pdb:4JQ0|rcsb pdb:4LZX|rcsb pdb:4M1L|go:"GO:0010800"(positive regulation of peptidyl-threonine phosphorylation)|rcsb pdb:3J41|rcsb pdb:2LL6|go:"GO:0002027"(regulation of heart rate)|go:"GO:0005513"(detection of calcium ion)|go:"GO:0010881"(regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion)|go:"GO:0030017"(sarcomere)|go:"GO:0030801"(obsolete positive regulation of cyclic nucleotide metabolic process)|go:"GO:0032516"(positive regulation of phosphoprotein phosphatase activity)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0051343"(positive regulation of cyclic-nucleotide phosphodiesterase activity)|go:"GO:0072542"(protein phosphatase activator activity)|go:"GO:1901844"(regulation of cell communication by electrical coupling involved in cardiac conduction)|rcsb pdb:2LV6|rcsb pdb:2N6A|refseq:NP_001734.1|refseq:NP_005175.2|refseq:NP_008819.1|interpro:IPR011992(EF-Hand type)|interpro:IPR018247|interpro:IPR002048(Calcium-binding EF-hand)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0005876"(spindle microtubule)|go:"GO:0000922"(spindle pole)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005980"(glycogen catabolic process)|go:"GO:0006936"(muscle contraction)|go:"GO:0060315"(negative regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0002576"(platelet degranulation)|go:"GO:0060316"(positive regulation of ryanodine-sensitive calcium-release channel activity)|go:"GO:0032465"(regulation of cytokinesis)|go:"GO:0050999"(regulation of nitric-oxide synthase activity)|rcsb pdb:1AJI|rcsb pdb:1CDL|rcsb pdb:1CLL|rcsb pdb:1CTR|rcsb pdb:1IWQ|rcsb pdb:1J7O|rcsb pdb:1J7P|rcsb pdb:1K90|rcsb pdb:1K93|rcsb pdb:1L7Z|rcsb pdb:1LVC|rcsb pdb:1NKF|rcsb pdb:1PK0|rcsb pdb:1S26|rcsb pdb:1SK6|rcsb pdb:1SW8|rcsb pdb:1WRZ|rcsb pdb:1XFU|rcsb pdb:1XFV|rcsb pdb:1XFW|rcsb pdb:1XFX|rcsb pdb:1XFY|rcsb pdb:1XFZ|rcsb pdb:1Y6W|rcsb pdb:1YR5|rcsb pdb:1YRT|rcsb pdb:1YRU|rcsb pdb:1ZOT|rcsb pdb:1ZUZ|rcsb pdb:2BE6|rcsb pdb:2F3Y|rcsb pdb:2F3Z|rcsb pdb:2HF5|rcsb pdb:2I08|rcsb pdb:2JZI|rcsb pdb:2K0E|rcsb pdb:2K0F|rcsb pdb:2K0J|rcsb pdb:2K61|rcsb pdb:2KNE|rcsb pdb:2KUG|rcsb pdb:2KUH|rcsb pdb:2L53|rcsb pdb:2L7L|rcsb pdb:2R28|rcsb pdb:2V01|rcsb pdb:2V02|rcsb pdb:2VAY|rcsb pdb:2W73|rcsb pdb:2WEL|rcsb pdb:2X0G|rcsb pdb:3BYA|rcsb pdb:3DVE|rcsb pdb:3DVJ|rcsb pdb:3DVK|rcsb pdb:3DVM|rcsb pdb:3EWT|rcsb pdb:3EWV|rcsb pdb:3G43|rcsb pdb:3HR4|rcsb pdb:3O77|rcsb pdb:3O78|rcsb pdb:3OXQ|rcsb pdb:3UCT|rcsb pdb:3UCW|rcsb pdb:3UCY|rcsb pdb:4DCK|go:"GO:0010801"(negative regulation of peptidyl-threonine phosphorylation)|go:"GO:0019901"(protein kinase binding)|go:"GO:0031954"(positive regulation of protein autophosphorylation)|go:"GO:0043539"(protein serine/threonine kinase activator activity)|go:"GO:0071902"(positive regulation of protein serine/threonine kinase activity)|go:"GO:0000165"(MAPK cascade)|rcsb pdb:2M0J|rcsb pdb:2M0K|rcsb pdb:4UMO|rcsb pdb:4V0C|go:"GO:0031982"(vesicle)|rcsb pdb:4Q5U|rcsb pdb:4UPU|reactome:R-HSA-2672351|reactome:R-HSA-418359|reactome:R-HSA-425561|reactome:R-HSA-5576892|reactome:R-HSA-5578775|reactome:R-HSA-936837|refseq:NP_001292555.1|rcsb pdb:4OVN|rcsb pdb:5COC|go:"GO:0021762"(substantia nigra development)|go:"GO:0070062"(extracellular exosome)|rcsb pdb:4BW7|rcsb pdb:4BW8|rcsb pdb:4L79|rcsb pdb:5DBR|rcsb pdb:4DJC|rcsb pdb:2M55|rcsb pdb:2LL7|go:"GO:0019855"(calcium channel inhibitor activity)|go:"GO:0001975"(response to amphetamine)|go:"GO:0007190"(activation of adenylate cyclase activity)|go:"GO:0030235"(nitric-oxide synthase regulator activity)|go:"GO:0030426"(growth cone)|go:"GO:0051000"(positive regulation of nitric-oxide synthase activity)|go:"GO:0051412"(response to corticosterone)|go:"GO:1901841"(regulation of high voltage-gated calcium channel activity)|rcsb pdb:2N77|go:"GO:0032991"(protein-containing complex)|go:"GO:0006479"(protein methylation)|go:"GO:0014069"(postsynaptic density)|rcsb pdb:5DSU|reactome:R-HSA-8876725|rcsb pdb:4GOW|rcsb pdb:4Q57|go:"GO:0043647"(inositol phosphate metabolic process)|go:"GO:0022400"(regulation of rhodopsin mediated signaling pathway)|go:"GO:0038095"(Fc-epsilon receptor signaling pathway)|go:"GO:0005576"(extracellular region)|go:"GO:0005737"(cytoplasm)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0010880"(regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031432"(titin binding)|go:"GO:0031996"(thioesterase binding)|go:"GO:0031997"(N-terminal myristoylation domain binding)|go:"GO:0043274"(phospholipase binding)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0051592"(response to calcium ion)|go:"GO:0055117"(regulation of cardiac muscle contraction)|rcsb pdb:2MG5|go:"GO:0005088"|go:"GO:0007223"(Wnt signaling pathway, calcium modulating pathway)|go:"GO:0008440"(inositol-1,4,5-trisphosphate 3-kinase activity)|go:"GO:0015276"(ligand-gated ion channel activity)|go:"GO:0005634"(nucleus)|rcsb pdb:4JPZ|ensembl:ENST00000272298|ensembl:ENST00000291295|ensembl:ENST00000356978|ensembl:ENST00000596362|refseq:NP_001292553.1|refseq:NP_001292554.1|rcsb pdb:4BYF|reactome:R-HSA-111932|reactome:R-HSA-111933|reactome:R-HSA-111957|reactome:R-HSA-111997|reactome:R-HSA-114608|reactome:R-HSA-1445148|reactome:R-HSA-1474151|reactome:R-HSA-180024|reactome:R-HSA-1855204|reactome:R-HSA-203615|reactome:R-HSA-2514859|reactome:R-HSA-2871809|reactome:R-HSA-4086398|reactome:R-HSA-442717|reactome:R-HSA-442729|reactome:R-HSA-442745|reactome:R-HSA-442982|reactome:R-HSA-445355|reactome:R-HSA-451308|reactome:R-HSA-5218920|reactome:R-HSA-5218921|reactome:R-HSA-5607763|reactome:R-HSA-5626467|reactome:R-HSA-5627123|reactome:R-HSA-5673001|reactome:R-HSA-70221|reactome:R-HSA-983695|ensembl:ENSG00000143933|ensembl:ENSG00000160014|ensembl:ENSG00000198668|ensembl:ENSP00000272298|ensembl:ENSP00000291295|ensembl:ENSP00000349467|ensembl:ENSP00000472141|rcsb pdb:5NIN|rcsb pdb:5VMS|rcsb pdb:5WSU|rcsb pdb:5WSV|rcsb pdb:6U39|rcsb pdb:6U3A|rcsb pdb:6U3B|rcsb pdb:6U3D|rcsb pdb:2N8J|rcsb pdb:5GGM|rcsb pdb:5J8H|reactome:R-HSA-163615|reactome:R-HSA-5210891|refseq:NP_001316851.1|refseq:NP_001316852.1|refseq:NP_001316853.1|refseq:NP_001316854.1|refseq:NP_001316855.1|rcsb pdb:2N27|rcsb pdb:5DOW|rcsb pdb:5I0I|rcsb pdb:5J03|rcsb pdb:5K7L|rcsb pdb:5K8Q|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0000086"(G2/M transition of mitotic cell cycle)|go:"GO:0043388"(positive regulation of DNA binding)|dip:DIP-31794N|rcsb pdb:1UP5|rcsb pdb:5JQA|rcsb pdb:5JTH|rcsb pdb:5OEO|rcsb pdb:5TP5|rcsb pdb:5TP6|rcsb pdb:5V02|rcsb pdb:5V03|rcsb pdb:5V7X|rcsb pdb:5WBX|rcsb pdb:5WC5|rcsb pdb:6B8L|rcsb pdb:6B8M|rcsb pdb:6B8N|rcsb pdb:6B8P|rcsb pdb:6B8Q|rcsb pdb:6C1D|rcsb pdb:6C1G|rcsb pdb:6C1H|rcsb pdb:6CNM|rcsb pdb:6CNN|rcsb pdb:6CNO|rcsb pdb:6FEG|rcsb pdb:6FEH|reactome:R-HSA-2025928|reactome:R-HSA-2151201|go:"GO:0034704"(calcium channel complex)|go:"GO:0010856"(adenylate cyclase activator activity)|go:"GO:0051186"(obsolete cofactor metabolic process)|go:"GO:0075206"(obsolete positive regulation by host of symbiont cAMP-mediated signal transduction)|go:"GO:0060314"(regulation of ryanodine-sensitive calcium-release channel activity)|interpro:IPR039030|go:"GO:1902494"(catalytic complex)|go:"GO:0043234"|go:"GO:0008179"(adenylate cyclase binding)|go:"GO:0097718"(disordered domain specific binding)|go:"GO:0030819"(obsolete positive regulation of cAMP biosynthetic process)|rcsb pdb:6BUT|rcsb pdb:6DAD|rcsb pdb:6DAE|rcsb pdb:6DAF|rcsb pdb:6DAH|rcsb pdb:6E2F|rcsb pdb:6E2G|rcsb pdb:6EEB|rcsb pdb:6GDK|rcsb pdb:6GDL|rcsb pdb:6HCS|rcsb pdb:6JI8|rcsb pdb:6JII|rcsb pdb:6JIU|rcsb pdb:6JIY|rcsb pdb:6JRS|rcsb pdb:6JV2|rcsb pdb:6K4K|rcsb pdb:6K4L|rcsb pdb:6K4R|rcsb pdb:6MUD|rcsb pdb:6MUE|rcsb pdb:6N5W|rcsb pdb:6O5G|reactome:R-HSA-438066|reactome:R-HSA-442720|reactome:R-HSA-5673000|reactome:R-HSA-6802946|reactome:R-HSA-6802949|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-9009391|reactome:R-HSA-9022535|reactome:R-HSA-9022692|reactome:R-HSA-9617324|reactome:R-HSA-9619229|reactome:R-HSA-9619483|reactome:R-HSA-9620244|go:"GO:0019722"(calcium-mediated signaling)|rcsb pdb:6PBX|rcsb pdb:6PBY|reactome:R-HSA-9649948|go:"GO:0005623"(obsolete cell)|rcsb pdb:6HR1|rcsb pdb:6OS4|rcsb pdb:6Y4P|rcsb pdb:6Y94|rcsb pdb:6Y95|reactome:R-HSA-9664323|go:"GO:0030234"(enzyme regulator activity)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0016032"(viral process)|rcsb pdb:6M7H|rcsb pdb:6UZZ|rcsb pdb:6V00|rcsb pdb:6V01|rcsb pdb:6PLM|rcsb pdb:6S5T|rcsb pdb:6SZ5|rcsb pdb:6XXF|rcsb pdb:6Y4O intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:tTYcOd9bOh211njZVz7cYVybAMQ9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68104 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352162|uniprotkb:P04719|uniprotkb:P04720|intact:EBI-2834776|intact:EBI-8011754|intact:MINT-4903558|uniprotkb:Q6IQ15|ensembl:ENSP00000330054|ensembl:ENSP00000339053|ensembl:ENSP00000339063|ensembl:ENSP00000348651|ensembl:ENSP00000392366|ensembl:ENSP00000479055|ensembl:ENSP00000503192|ensembl:ENSP00000503249|ensembl:ENSP00000503823|ensembl:ENSP00000504335|intact:EBI-16423274 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ef1a1_human(display_long)|uniprotkb:EEF1A1(gene name)|psi-mi:EEF1A1(display_short)|uniprotkb:EEF1A(gene name synonym)|uniprotkb:EF1A(gene name synonym)|uniprotkb:LENG7(gene name synonym)|uniprotkb:Eukaryotic elongation factor 1 A-1(gene name synonym)|uniprotkb:Elongation factor Tu(gene name synonym)|uniprotkb:Leukocyte receptor cluster member 7(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011533816.1|ensembl:ENSG00000156508(gene)|ensembl:ENST00000309268(transcript)|ensembl:ENST00000316292(transcript)|ensembl:ENST00000331523(transcript)|ensembl:ENST00000356303(transcript)|ensembl:ENST00000455918(transcript)|ensembl:ENST00000615060(transcript)|ensembl:ENST00000676710(transcript)|ensembl:ENST00000677236(transcript)|ensembl:ENST00000678508(transcript)|ensembl:ENST00000678702(transcript)|go:"GO:0000049"(tRNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003746"(translation elongation factor activity)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005615"(extracellular space)|go:"GO:0005829"(cytosol)|go:"GO:0005853"(eukaryotic translation elongation factor 1 complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0006412"(translation)|go:"GO:0006414"(translational elongation)|go:"GO:0016020"(membrane)|go:"GO:0019900"(kinase binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0032587"(ruffle membrane)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071364"(cellular response to epidermal growth factor stimulus)|go:"GO:0098574"(cytoplasmic side of lysosomal membrane)|go:"GO:1900022"(regulation of D-erythro-sphingosine kinase activity)|go:"GO:1904714"(regulation of chaperone-mediated autophagy)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR000795(Protein synthesis factor, GTP-binding)|interpro:IPR004160(Translation elongation factor EFTu/EF1A, C-terminal)|interpro:IPR004161(Translation elongation factor EFTu/EF1A, domain 2)|interpro:IPR004539(Translation elongation factor EF1A, eukaryotic and archaeal)|interpro:IPR009000(Translation elongation and initiation factors/Ribosomal, beta-barrel)|interpro:IPR009001(Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal)|interpro:IPR027417|interpro:IPR031157|mint:P68104|rcsb pdb:1SYW|rcsb pdb:3C5J|rcsb pdb:6ZMO|reactome:R-HSA-156842|reactome:R-HSA-156902|reactome:R-HSA-3371511|reactome:R-HSA-6798695|reactome:R-HSA-8876725|reactome:R-HSA-9613829|dip:DIP-31277N|refseq:NP_001393.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:d3REF87FDKboAjyvlJJEXtqhrcw9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68371 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351356|uniprotkb:P05217|uniprotkb:A2BFA2|ensembl:ENSP00000341289 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb4b_human(display_long)|uniprotkb:TUBB4B(gene name)|psi-mi:TUBB4B(display_short)|uniprotkb:TUBB2C(gene name synonym)|uniprotkb:Tubulin beta-2 chain(gene name synonym)|uniprotkb:Tubulin beta-2C chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006079.1|ensembl:ENSG00000188229(gene)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005874"(microtubule)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0042267"(natural killer cell mediated cytotoxicity)|go:"GO:0042288"(MHC class I protein binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903561"(extracellular vesicle)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|go:"GO:0005200"(structural constituent of cytoskeleton)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P68371|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2132295|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-2565942|reactome:R-HSA-3371497|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620912|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6798695|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8854518|reactome:R-HSA-8955332|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-9668328|reactome:R-HSA-983189|ensembl:ENST00000340384(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0003725"(double-stranded RNA binding) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:4LwMs7E7eILMjB9Z/1bstAp22CY9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P36578 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-348313|ensembl:ENSP00000311430|uniprotkb:P39029|uniprotkb:Q4VBR0|uniprotkb:Q969Z9|uniprotkb:A8K502 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl4_human(display_long)|uniprotkb:RPL4(gene name)|psi-mi:RPL4(display_short)|uniprotkb:RPL1(gene name synonym)|uniprotkb:60S ribosomal protein L1(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000174444(gene)|ensembl:ENST00000307961(transcript)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006412"(translation)|go:"GO:0016020"(membrane)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR002136(Ribosomal protein L4/L1e)|interpro:IPR013000(Ribosomal protein L4/L1e, eukaryotic/archaeal, conserved site)|interpro:IPR025755|mint:P36578|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A8L|rcsb pdb:5AJ0|rcsb pdb:5LKS|rcsb pdb:5T2C|rcsb pdb:6EK0|rcsb pdb:6IP5|rcsb pdb:6IP6|rcsb pdb:6IP8|rcsb pdb:6LQM|rcsb pdb:6LSR|rcsb pdb:6LSS|rcsb pdb:6LU8|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|interpro:IPR023574|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM7|rcsb pdb:6QZP|rcsb pdb:6W6L|rcsb pdb:6XA1|rcsb pdb:6Y0G|rcsb pdb:6Y2L|rcsb pdb:6Y57|rcsb pdb:6Y6X|rcsb pdb:6Z6L|rcsb pdb:6Z6M|rcsb pdb:6Z6N|rcsb pdb:6ZM7|rcsb pdb:6ZME|rcsb pdb:6ZMI|rcsb pdb:6ZMO|rcsb pdb:7BHP|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|reactome:R-HSA-975957|rcsb pdb:6OM0|refseq:NP_000959.2|dip:DIP-27559N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:34il/jyrW0Dqj0eA8GBFgUk05XU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H3K6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1642537|uniprotkb:A1L454|uniprotkb:A7YDY3|ensembl:ENSP00000331127|ensembl:ENSP00000498355 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:bola2_human(display_long)|uniprotkb:BOLA2(gene name)|psi-mi:BOLA2(display_short)|uniprotkb:BOLA2B(gene name)|psi-mi:BOLA2B(display_short)|uniprotkb:BOLA2A(gene name synonym)|uniprotkb:My016(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001026997.1|refseq:NP_001034271.1|refseq:NP_001307508.1|refseq:XP_016855107.1|ensembl:ENSG00000169627(gene)|ensembl:ENSG00000183336(gene)|ensembl:ENST00000330978(transcript)|ensembl:ENST00000651894(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006879"(cellular iron ion homeostasis)|go:"GO:0044571"([2Fe-2S] cluster assembly)|go:"GO:0051536"(iron-sulfur cluster binding)|go:"GO:0097428"(protein maturation by iron-sulfur cluster transfer)|interpro:IPR002634(BolA-like protein)|interpro:IPR036065|mint:Q9H3K6|reactome:R-HSA-8950505 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5TcFdmQcwx5trexmXkWp9Arn5zE9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14839 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-372916|uniprotkb:Q8IXZ5|intact:EBI-28978241|ensembl:ENSP00000440542 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:chd4_human(display_long)|uniprotkb:CHD4(gene name)|psi-mi:CHD4(display_short)|uniprotkb:ATP-dependent helicase CHD4(gene name synonym)|uniprotkb:Mi-2 autoantigen 218 kDa protein(gene name synonym)|uniprotkb:Mi2-beta(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000440542|ensembl:ENST00000645095|ensembl:ENSP00000496634|refseq:NP_001264.2|refseq:XP_006719021.1|refseq:NP_001284482.1|ensembl:ENSG00000111642(gene)|ensembl:ENST00000544040(transcript)|go:"GO:0000785"(chromatin)|go:"GO:0001221"(transcription coregulator binding)|go:"GO:0003677"(DNA binding)|go:"GO:0003678"(DNA helicase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0008270"(zinc ion binding)|go:"GO:0016020"(membrane)|go:"GO:0016581"(NuRD complex)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043044"|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070615"|go:"GO:0090575"(RNA polymerase II transcription regulator complex)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|interpro:IPR000330(SNF2-related)|interpro:IPR000953(Chromo domain)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR001965(Zinc finger, PHD-type)|interpro:IPR002464(DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site)|interpro:IPR009462(Protein of unknown function DUF1086)|interpro:IPR009463(Protein of unknown function DUF1087)|interpro:IPR011011(Zinc finger, FYVE/PHD-type)|interpro:IPR012957(CHD, C-terminal 2)|interpro:IPR012958(CHD, N-terminal)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR016197(Chromo domain-like)|interpro:IPR019786|interpro:IPR019787|interpro:IPR023780|interpro:IPR027417|interpro:IPR038718|mint:Q14839|rcsb pdb:1MM2|rcsb pdb:1MM3|rcsb pdb:2EE1|rcsb pdb:2L5U|rcsb pdb:2L75|rcsb pdb:2N5N|rcsb pdb:4O9I|rcsb pdb:6BGG|rcsb pdb:6Q3M|rcsb pdb:6RYR|rcsb pdb:6RYU|reactome:R-HSA-3214815|reactome:R-HSA-427389|reactome:R-HSA-6804758|reactome:R-HSA-73762|reactome:R-HSA-8943724|reactome:R-HSA-9031628|reactome:R-HSA-9679191|dip:DIP-31183N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:E9eHT/41SIFRiz54J81hvPQeHIE9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P27824 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-355947|uniprotkb:D3DWQ3|uniprotkb:B2R5V8|ensembl:ENSP00000421434|ensembl:ENSP00000421813|ensembl:ENSP00000424063|ensembl:ENSP00000424745|ensembl:ENSP00000491760|ensembl:ENSP00000492372|ensembl:ENSP00000492868|ensembl:ENSP00000505013|ensembl:ENSP00000505202|ensembl:ENSP00000505526|ensembl:ENSP00000505960|ensembl:ENSP00000506003|ensembl:ENSP00000506021|ensembl:ENSP00000506061|ensembl:ENSP00000506078|ensembl:ENSP00000506509|ensembl:ENSP00000506568|ensembl:ENSP00000506583|ensembl:ENSP00000247461|ensembl:ENSP00000391646|intact:EBI-9513217|uniprotkb:B4DGP8|uniprotkb:B4E2T8|uniprotkb:D6R9K3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:calx_human(display_long)|uniprotkb:CANX(gene name)|psi-mi:CANX(display_short)|uniprotkb:Major histocompatibility complex class I antigen-binding protein p88(gene name synonym)|uniprotkb:p90(gene name synonym)|uniprotkb:IP90(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001019820.1|refseq:NP_001737.1|refseq:XP_011532967.1|go:"GO:0099059"(integral component of presynaptic active zone membrane)|interpro:IPR001580(Calreticulin/calnexin)|interpro:IPR009033(Calreticulin/calnexin, P)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR018124|mint:P27824|reactome:R-HSA-168316|reactome:R-HSA-2132295|reactome:R-HSA-8984722|reactome:R-HSA-901042|reactome:R-HSA-9020956|reactome:R-HSA-9683686|reactome:R-HSA-9694548|reactome:R-HSA-983170|ensembl:ENST00000452673(transcript)|ensembl:ENST00000502296(transcript)|ensembl:ENST00000504734(transcript)|ensembl:ENST00000509563(transcript)|ensembl:ENST00000513246(transcript)|ensembl:ENST00000638425(transcript)|ensembl:ENST00000638706(transcript)|ensembl:ENST00000639938(transcript)|ensembl:ENST00000680013(transcript)|ensembl:ENST00000680042(transcript)|ensembl:ENST00000680092(transcript)|ensembl:ENST00000680618(transcript)|ensembl:ENST00000681072(transcript)|ensembl:ENST00000681168(transcript)|ensembl:ENST00000681476(transcript)|ensembl:ENST00000681674(transcript)|ensembl:ENST00000681712(transcript)|ensembl:ENST00000681733(transcript)|ensembl:ENST00000681903(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005790"(smooth endoplasmic reticulum)|ensembl:ENST00000247461(transcript)|go:"GO:0005840"(ribosome)|go:"GO:0006457"(protein folding)|go:"GO:0007568"(aging)|go:"GO:0009306"(protein secretion)|go:"GO:0016020"(membrane)|go:"GO:0019082"(viral protein processing)|go:"GO:0030246"(carbohydrate binding)|go:"GO:0030424"(axon)|go:"GO:0030968"(endoplasmic reticulum unfolded protein response)|go:"GO:0032839"(dendrite cytoplasm)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034185"(apolipoprotein binding)|go:"GO:0034975"(protein folding in endoplasmic reticulum)|go:"GO:0035255"(ionotropic glutamate receptor binding)|go:"GO:0042470"(melanosome)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0044233"(mitochondria-associated endoplasmic reticulum membrane)|go:"GO:0044322"(endoplasmic reticulum quality control compartment)|go:"GO:0048488"(synaptic vesicle endocytosis)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071556"(integral component of lumenal side of endoplasmic reticulum membrane)|go:"GO:0072583"(clathrin-dependent endocytosis)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099055"(integral component of postsynaptic membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|ensembl:ENSG00000127022(gene)|ensembl:ENSG00000283777(gene)|dip:DIP-457N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Vy9HZjl19IXifyFpueW0LXi9ENk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15143 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1044647|uniprotkb:Q9BU00|ensembl:ENSP00000388802|ensembl:ENSP00000389631|ensembl:ENSP00000398110|ensembl:ENSP00000403211|ensembl:ENSP00000410238|ensembl:ENSP00000494033|ensembl:ENSP00000496599 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arc1b_human(display_long)|uniprotkb:Arp2/3 complex 41 kDa subunit(gene name synonym)|uniprotkb:p41-ARC(gene name synonym)|uniprotkb:ARPC1B(gene name)|psi-mi:ARPC1B(display_short)|uniprotkb:ARC41(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005711.1|ensembl:ENSG00000130429(gene)|ensembl:ENST00000427217(transcript)|ensembl:ENST00000431816(transcript)|ensembl:ENST00000451682(transcript)|ensembl:ENST00000455009(transcript)|ensembl:ENST00000458033(transcript)|ensembl:ENST00000645391(transcript)|ensembl:ENST00000646101(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0032355"(response to estradiol)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0036284"(tubulobulbar complex)|go:"GO:0043627"(response to estrogen)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR017383(Actin-related protein 2/3 complex, subunit 1)|interpro:IPR030141|interpro:IPR036322|mint:O15143|rcsb pdb:6UHC|rcsb pdb:6YW6|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-9664422|refseq:XP_006715888.1|refseq:XP_006715889.1|dip:DIP-41254N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:sx7R5hirSnqoXyOlW6ltrpNjUIs9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13547 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-301834|uniprotkb:Q92534|ensembl:ENSP00000362649 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hdac1_human(display_long)|uniprotkb:HDAC1(gene name)|psi-mi:HDAC1(display_short)|uniprotkb:RPD3L1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000116478(gene)|ensembl:ENST00000373548(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000792"(heterochromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000979"(RNA polymerase II core promoter sequence-specific DNA binding)|go:"GO:0001046"(core promoter sequence-specific DNA binding)|go:"GO:0001975"(response to amphetamine)|go:"GO:0002039"(p53 binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0004407"(histone deacetylase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006325"(chromatin organization)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006346"(DNA methylation-dependent heterochromatin assembly)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006476"(protein deacetylation)|go:"GO:0007492"(endoderm development)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0009913"(epidermal cell differentiation)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016575"(histone deacetylation)|go:"GO:0016580"(Sin3 complex)|go:"GO:0016581"(NuRD complex)|go:"GO:0019899"(enzyme binding)|go:"GO:0021766"(hippocampus development)|go:"GO:0030182"(neuron differentiation)|go:"GO:0031000"(response to caffeine)|go:"GO:0032041"("NAD-dependent histone deacetylase activity (H3-K14 specific)")|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032732"(positive regulation of interleukin-1 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033558"(protein deacetylase activity)|go:"GO:0034599"(cellular response to oxidative stress)|go:"GO:0035851"(Krueppel-associated box domain binding)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0042493"|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042733"(embryonic digit morphogenesis)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043044"|go:"GO:0019213"(deacetylase activity)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070888"(E-box binding)|go:"GO:0070932"(histone H3 deacetylation)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:0071356"(cellular response to tumor necrosis factor)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1900221"(regulation of amyloid-beta clearance)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:2000273"(positive regulation of signaling receptor activity)|go:"GO:2000343"("positive regulation of chemokine (C-X-C motif) ligand 2 production")|go:"GO:2000676"(positive regulation of type B pancreatic cell apoptotic process)|go:"GO:2000757"(negative regulation of peptidyl-lysine acetylation)|go:"GO:2001243"(negative regulation of intrinsic apoptotic signaling pathway)|interpro:IPR000286(Histone deacetylase superfamily)|interpro:IPR003084(Histone deacetylase)|interpro:IPR023696|interpro:IPR023801|interpro:IPR037138|mint:Q13547|rcsb pdb:1TYI|rcsb pdb:4BKX|rcsb pdb:5ICN|rcsb pdb:6Z2J|rcsb pdb:6Z2K|rcsb pdb:7AO8|rcsb pdb:7AO9|rcsb pdb:7AOA|reactome:R-HSA-1362277|reactome:R-HSA-1362300|reactome:R-HSA-1538133|reactome:R-HSA-193670|reactome:R-HSA-201722|reactome:R-HSA-2122947|reactome:R-HSA-2173795|reactome:R-HSA-2173796|reactome:R-HSA-2644606|reactome:R-HSA-2894862|reactome:R-HSA-3214815|reactome:R-HSA-350054|reactome:R-HSA-3769402|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-4551638|reactome:R-HSA-4641265|reactome:R-HSA-6804758|reactome:R-HSA-69205|reactome:R-HSA-73762|reactome:R-HSA-8936459|reactome:R-HSA-8943724|reactome:R-HSA-9018519|reactome:R-HSA-9022538|reactome:R-HSA-9022692|go:"GO:0017053"(transcription repressor complex)|go:"GO:0043066"(negative regulation of apoptotic process)|reactome:R-HSA-9022699|reactome:R-HSA-9022702|reactome:R-HSA-9615017|reactome:R-HSA-9679191|reactome:R-HSA-983231|go:"GO:0043524"(negative regulation of neuron apoptotic process)|go:"GO:0043922"(negative regulation by host of viral transcription)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046676"(negative regulation of insulin secretion)|go:"GO:0047485"(protein N-terminus binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0052548"(regulation of endopeptidase activity)|go:"GO:0055093"(response to hyperoxia)|go:"GO:0060766"(negative regulation of androgen receptor signaling pathway)|go:"GO:0060789"(hair follicle placode formation)|go:"GO:0061029"(eyelid development in camera-type eye)|go:"GO:0061198"(fungiform papilla formation)|go:"GO:0043124"(negative regulation of I-kappaB kinase/NF-kappaB signaling)|refseq:NP_004955.2|dip:DIP-24184N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:RP+yIBWH55NgoPTY1nKXqeJL/xY9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:E7EVX8 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-25631241|ensembl:ENSP00000375635|ensembl:ENSP00000479035 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:e7evx8_human(display_long)|uniprotkb:PRPF31(gene name)|psi-mi:PRPF31(display_short)|uniprotkb:U4/U6 small nuclear ribonucleoprotein Prp31(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000105618(gene)|ensembl:ENSG00000275885(gene)|ensembl:ENST00000391755(transcript)|ensembl:ENST00000616532(transcript)|go:"GO:0000244"(spliceosomal tri-snRNP complex assembly)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0015030"(Cajal body)|go:"GO:0046540"(U4/U6 x U5 tri-snRNP complex)|interpro:IPR002687(Pre-mRNA processing ribonucleoprotein, binding region)|interpro:IPR012976(NOSIC)|interpro:IPR019175|interpro:IPR027105|interpro:IPR036070|interpro:IPR042239 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:r8cb1ChKZCoIXQDCTL5OWoWKens9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15145 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351829|uniprotkb:O00554|ensembl:ENSP00000228825 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arpc3_human(display_long)|uniprotkb:ARPC3(gene name)|psi-mi:ARPC3(display_short)|uniprotkb:ARC21(gene name synonym)|uniprotkb:Arp2/3 complex 21 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000111229(gene)|ensembl:ENST00000228825(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0030027"(lamellipodium)|go:"GO:0031941"(filamentous actin)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0061850"(growth cone leading edge)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070358"(actin polymerization-dependent cell motility)|go:"GO:1990090"(cellular response to nerve growth factor stimulus)|interpro:IPR007204(ARP2/3 complex, 21 kDa p21-Arc subunit)|interpro:IPR036753|mint:O15145|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|refseq:NP_001274151.1|refseq:NP_001265485.1|dip:DIP-33187N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:u4h1270mPo3E3GBrEurYtpUYTQM9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O15144 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352356|uniprotkb:Q92801|uniprotkb:Q9P1D4|ensembl:ENSP00000295685|ensembl:ENSP00000327137 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arpc2_human(display_long)|uniprotkb:ARPC2(gene name)|psi-mi:ARPC2(display_short)|uniprotkb:ARC34(gene name synonym)|uniprotkb:PRO2446(orf name)|uniprotkb:Arp2/3 complex 34 kDa subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005722.1|refseq:NP_690601.1|go:"GO:0005925"(focal adhesion)|go:"GO:0010592"(positive regulation of lamellipodium assembly)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0036195"(muscle cell projection membrane)|go:"GO:0043005"(neuron projection)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070358"(actin polymerization-dependent cell motility)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1900026"(positive regulation of substrate adhesion-dependent cell spreading)|interpro:IPR007188(Arp2/3 complex, 34kDa subunit p34-Arc)|interpro:IPR034666|mint:O15144|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|go:"GO:0005885"(Arp2/3 protein complex)|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|reactome:R-HSA-3928662|ensembl:ENSG00000163466(gene)|ensembl:ENST00000295685(transcript)|ensembl:ENST00000315717(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005768"(endosome)|go:"GO:0005829"(cytosol)|dip:DIP-33197N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:v5OozQTt614rvrBBoUavbAzjgZ49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P27635 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352398|uniprotkb:A3KQT0|uniprotkb:Q16470|uniprotkb:Q2HXT7|uniprotkb:Q53FH7|uniprotkb:Q6FGN8|uniprotkb:Q8TDA5|intact:EBI-3046680|uniprotkb:D3DWW6|ensembl:ENSP00000341730|ensembl:ENSP00000358832 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rl10_human(display_long)|uniprotkb:RPL10(gene name)|psi-mi:RPL10(display_short)|uniprotkb:QM(gene name synonym)|uniprotkb:Protein QM(gene name synonym)|uniprotkb:Tumor suppressor QM(gene name synonym)|uniprotkb:Laminin receptor homolog(gene name synonym)|uniprotkb:DXS648E(gene name synonym)|uniprotkb:Large ribosomal subunit protein uL16(gene name synonym)|uniprotkb:Ribosomal protein L10(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001243506.2|refseq:NP_001243509.2|refseq:NP_001290553.1|refseq:NP_001290554.1|refseq:NP_001290555.1|ensembl:ENSG00000147403(gene)|ensembl:ENST00000344746(transcript)|ensembl:ENST00000369817(transcript)|go:"GO:0000027"(ribosomal large subunit assembly)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0002181"(cytoplasmic translation)|go:"GO:0003723"(RNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0005634"(nucleus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0006417"(regulation of translation)|refseq:NP_006004.3|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0032991"(protein-containing complex)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0045182"(translation regulator activity)|go:"GO:1990403"(embryonic brain development)|interpro:IPR001197(Ribosomal protein L10e)|interpro:IPR016180(Ribosomal protein L10e/L16)|interpro:IPR018255|interpro:IPR036920|mint:P27635|rcsb pdb:2PA2|rcsb pdb:5AJ0|rcsb pdb:6OLE|rcsb pdb:6OLF|rcsb pdb:6OLG|rcsb pdb:6OLI|rcsb pdb:6OLZ|rcsb pdb:6OM0|rcsb pdb:6OM7|rcsb pdb:6W6L|reactome:R-HSA-156827|reactome:R-HSA-156902|reactome:R-HSA-1799339|reactome:R-HSA-192823|reactome:R-HSA-2408557|reactome:R-HSA-6791226|reactome:R-HSA-72689|reactome:R-HSA-72706|reactome:R-HSA-72764|reactome:R-HSA-9010553|reactome:R-HSA-9633012|reactome:R-HSA-975956|go:"GO:0016020"(membrane)|reactome:R-HSA-975957|dip:DIP-1133N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:wJnBcv39yvVz2CaZq8UKgxIpJeE9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UKL0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-926563|uniprotkb:Q15044|uniprotkb:Q6P2I9|uniprotkb:Q86VG5|intact:EBI-11087913|uniprotkb:J3KN32|ensembl:ENSP00000262241 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rcor1_human(display_long)|uniprotkb:RCOR1(gene name)|psi-mi:RCOR1(display_short)|uniprotkb:KIAA0071(gene name synonym)|uniprotkb:RCOR(gene name synonym)|uniprotkb:Protein CoREST(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_055971.2|dip:DIP-35263N|ensembl:ENSG00000089902(gene)|ensembl:ENST00000262241(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016575"(histone deacetylation)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019899"(enzyme binding)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0045654"(positive regulation of megakaryocyte differentiation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:1990391"(DNA repair complex)|interpro:IPR000949(ELM2)|interpro:IPR001005(SANT, DNA-binding)|interpro:IPR009057(Homeodomain-like)|interpro:IPR017884|interpro:IPR017930|mint:Q9UKL0|rcsb pdb:2IW5|rcsb pdb:2UXN|rcsb pdb:2UXX|rcsb pdb:2V1D|rcsb pdb:2X0L|rcsb pdb:2XAF|rcsb pdb:2XAG|rcsb pdb:2XAH|rcsb pdb:2XAJ|rcsb pdb:2XAQ|rcsb pdb:2XAS|rcsb pdb:2Y48|rcsb pdb:3ZMS|rcsb pdb:3ZMT|rcsb pdb:3ZMU|rcsb pdb:3ZMV|rcsb pdb:3ZMZ|rcsb pdb:3ZN0|rcsb pdb:3ZN1|rcsb pdb:4BAY|rcsb pdb:4KUM|rcsb pdb:4UV8|rcsb pdb:4UV9|rcsb pdb:4UVA|rcsb pdb:4UVB|rcsb pdb:4UVC|rcsb pdb:4UXN|rcsb pdb:4XBF|rcsb pdb:5H6Q|rcsb pdb:5H6R|rcsb pdb:5L3B|rcsb pdb:5L3C|rcsb pdb:5L3D|rcsb pdb:5L3E|rcsb pdb:5L3F|rcsb pdb:5L3G|rcsb pdb:5LBQ|rcsb pdb:5LGN|rcsb pdb:5LGT|rcsb pdb:5LGU|rcsb pdb:5LHG|rcsb pdb:5LHH|rcsb pdb:5LHI|rcsb pdb:5X60|rcsb pdb:5YJB|rcsb pdb:6K3E|rcsb pdb:6KGK|rcsb pdb:6KGL|rcsb pdb:6KGM|rcsb pdb:6KGN|rcsb pdb:6S35|rcsb pdb:6TE1|rcsb pdb:6VYP|rcsb pdb:6W4K|rcsb pdb:6WC6|rcsb pdb:7CDC|rcsb pdb:7CDD|rcsb pdb:7CDE|rcsb pdb:7CDF|rcsb pdb:7CDG|reactome:R-HSA-3214815|reactome:R-HSA-8943724|reactome:R-HSA-9679191|reactome:R-HSA-983231 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B1KfnjicGzKdWGnGGrZwjgpMQ309606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:J3QRS3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27044220|ensembl:ENSP00000464359 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:j3qrs3_human(display_long)|uniprotkb:MYL12A(gene name)|psi-mi:MYL12A(display_short)|uniprotkb:MRCL3(gene name synonym)|uniprotkb:hCG_2045956(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000101608(gene)|ensembl:ENST00000580887(transcript)|go:"GO:0005509"(calcium ion binding)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR015070(Region of unknown function DUF1880)|interpro:IPR018247|refseq:NP_001289978.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fnNK4lFewoss1VURWAwiP4XRPqI9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92747 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1020827|uniprotkb:Q7Z5U8|uniprotkb:Q86WU5|uniprotkb:Q8IXQ0|uniprotkb:A4D276|uniprotkb:D6W5S1|ensembl:ENSP00000262942|uniprotkb:B4DLQ7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arc1a_human(display_long)|uniprotkb:ARPC1A(gene name)|psi-mi:ARPC1A(display_short)|uniprotkb:SOP2L(gene name synonym)|uniprotkb:SOP2-like protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006400.2|ensembl:ENSG00000241685(gene)|ensembl:ENST00000262942(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR017383(Actin-related protein 2/3 complex, subunit 1)|interpro:IPR030140|interpro:IPR036322|mint:Q92747|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|dip:DIP-33142N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ACqXC+XYl9R9Z7mHhpw7vt1SPu49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11142 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351896|uniprotkb:Q9H3R6|ensembl:ENSP00000227378|ensembl:ENSP00000432083|ensembl:ENSP00000437125 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hsp7c_human(display_long)|uniprotkb:HSPA8(gene name)|psi-mi:HSPA8(display_short)|uniprotkb:HSC70(gene name synonym)|uniprotkb:HSP73(gene name synonym)|uniprotkb:HSPA10(gene name synonym)|uniprotkb:Heat shock 70 kDa protein 8(gene name synonym)|uniprotkb:Lipopolysaccharide-associated protein 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006588.1|refseq:NP_694881.1|refseq:XP_011541100.1|ensembl:ENSG00000109971(gene)|ensembl:ENST00000227378(transcript)|ensembl:ENST00000532636(transcript)|ensembl:ENST00000534624(transcript)|go:"GO:0000974"(Prp19 complex)|go:"GO:0001664"(G protein-coupled receptor binding)|go:"GO:0001786"(phosphatidylserine binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005770"(late endosome)|go:"GO:0005776"(autophagosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006397"(mRNA processing)|go:"GO:0006457"(protein folding)|go:"GO:0006986"(response to unfolded protein)|go:"GO:0008380"(RNA splicing)|go:"GO:0009267"(cellular response to starvation)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0023026"(MHC class II protein complex binding)|go:"GO:0030425"(dendrite)|go:"GO:0030674"(protein-macromolecule adaptor activity)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0031647"(regulation of protein stability)|go:"GO:0034620"(cellular response to unfolded protein)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0042026"(protein refolding)|go:"GO:0042470"(melanosome)|go:"GO:0005925"(focal adhesion)|go:"GO:0043195"(terminal bouton)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043254"(regulation of protein-containing complex assembly)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0044829"(positive regulation by host of viral genome replication)|go:"GO:0045296"(cadherin binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0046034"(ATP metabolic process)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051085"(chaperone cofactor-dependent protein refolding)|go:"GO:0051087"(chaperone binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0051787"(misfolded protein binding)|go:"GO:0055131"(C3HC4-type RING finger domain binding)|go:"GO:0061024"(membrane organization)|go:"GO:0061202"(clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane)|go:"GO:0061635"(regulation of protein complex stability)|go:"GO:0061684"(chaperone-mediated autophagy)|go:"GO:0061738"(late endosomal microautophagy)|go:"GO:0061740"(protein targeting to lysosome involved in chaperone-mediated autophagy)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:0098575"(lumenal side of lysosomal membrane)|go:"GO:0098684"(photoreceptor ribbon synapse)|go:"GO:0098690"(glycinergic synapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099175"(regulation of postsynapse organization)|go:"GO:0099523"(presynaptic cytosol)|go:"GO:0099524"(postsynaptic cytosol)|go:"GO:0099634"(postsynaptic specialization membrane)|go:"GO:0101031"(chaperone complex)|go:"GO:0140545"(protein disaggregase activity)|go:"GO:0140597"(protein carrier chaperone)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1902904"(negative regulation of supramolecular fiber organization)|go:"GO:1904589"(regulation of protein import)|go:"GO:1904764"(chaperone-mediated autophagy translocation complex disassembly)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1990832"(slow axonal transport)|go:"GO:1990833"(clathrin-uncoating ATPase activity)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR013126(Heat shock protein 70)|interpro:IPR018181|interpro:IPR029047|interpro:IPR029048|interpro:IPR043129|mint:P11142|rcsb pdb:3AGY|rcsb pdb:3AGZ|rcsb pdb:3ESK|rcsb pdb:3FZF|rcsb pdb:3FZH|rcsb pdb:3FZK|rcsb pdb:3FZL|rcsb pdb:3FZM|rcsb pdb:3LDQ|rcsb pdb:3M3Z|rcsb pdb:4H5N|rcsb pdb:4H5R|rcsb pdb:4H5T|rcsb pdb:4H5V|rcsb pdb:4H5W|rcsb pdb:4HWI|rcsb pdb:4KBQ|rcsb pdb:5AQF|rcsb pdb:5AQG|rcsb pdb:5AQH|rcsb pdb:5AQI|rcsb pdb:5AQJ|rcsb pdb:5AQK|rcsb pdb:5AQL|rcsb pdb:5AQM|rcsb pdb:5AQN|rcsb pdb:5AQO|rcsb pdb:5AQP|rcsb pdb:5AQQ|rcsb pdb:5AQR|rcsb pdb:5AQS|rcsb pdb:5AQT|rcsb pdb:5AQU|rcsb pdb:5AQV|rcsb pdb:6B1I|rcsb pdb:6B1M|rcsb pdb:6B1N|rcsb pdb:6ZYJ|reactome:R-HSA-3371453|reactome:R-HSA-3371497|reactome:R-HSA-3371568|reactome:R-HSA-3371571|reactome:R-HSA-432720|reactome:R-HSA-432722|reactome:R-HSA-447041|reactome:R-HSA-450408|reactome:R-HSA-6785807|reactome:R-HSA-6798695|reactome:R-HSA-72163|reactome:R-HSA-8856828|reactome:R-HSA-8876725|reactome:R-HSA-888590|reactome:R-HSA-9613354|reactome:R-HSA-9613829|reactome:R-HSA-9615710|dip:DIP-32874N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0I+wYut3naJRzzgmMSax/1mZZwA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q01804 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1054396|uniprotkb:Q147U2|uniprotkb:Q1ZYK1|uniprotkb:Q6PG39|uniprotkb:Q96MQ5|uniprotkb:Q9NT94|uniprotkb:Q9UPV6|uniprotkb:B4DYS4|ensembl:ENSP00000395487 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:otud4_human(display_long)|uniprotkb:HIN-1(gene name synonym)|uniprotkb:HIV-1-induced protein HIN-1(gene name synonym)|uniprotkb:OTUD4(gene name)|psi-mi:OTUD4(display_short)|uniprotkb:KIAA1046(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_005263136.1|refseq:NP_001096123.1|refseq:NP_059963.1|ensembl:ENSG00000164164(gene)|ensembl:ENST00000447906(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0004843"(thiol-dependent deubiquitinase)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0016579"(protein deubiquitination)|go:"GO:0034122"(negative regulation of toll-like receptor signaling pathway)|go:"GO:0045087"(innate immune response)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0061578"(Lys63-specific deubiquitinase activity)|go:"GO:0070536"(protein K63-linked deubiquitination)|go:"GO:0071108"(protein K48-linked deubiquitination)|go:"GO:1901537"(positive regulation of DNA demethylation)|go:"GO:1903093"(regulation of protein K48-linked deubiquitination)|go:"GO:2000660"(negative regulation of interleukin-1-mediated signaling pathway)|interpro:IPR003323(Ovarian tumour, otubain)|interpro:IPR038765 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:humMGfho0HKWE4zhO7+G00gIJfc9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P60660 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-300817|uniprotkb:P16475|uniprotkb:P24572|uniprotkb:P24573|uniprotkb:Q12790|ensembl:ENSP00000446955|ensembl:ENSP00000448101|uniprotkb:Q6IAZ0|uniprotkb:Q6IPY5|uniprotkb:Q561V9 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myl6_human(display_long)|uniprotkb:MYL6(gene name)|psi-mi:MYL6(display_short)|uniprotkb:Smooth muscle and nonmuscle myosin light chain alkali 6(gene name synonym)|uniprotkb:Myosin light chain alkali 3(gene name synonym)|uniprotkb:Myosin light chain 3(gene name synonym)|uniprotkb:17 kDa myosin light chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000092841(gene)|ensembl:ENST00000548293(transcript)|ensembl:ENST00000550697(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005829"(cytosol)|go:"GO:0005903"(brush border)|go:"GO:0006936"(muscle contraction)|go:"GO:0007519"(skeletal muscle tissue development)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0016020"(membrane)|go:"GO:0016459"(myosin complex)|go:"GO:0016461"(unconventional myosin complex)|go:"GO:0030049"(muscle filament sliding)|go:"GO:0031982"(vesicle)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|mint:P60660|reactome:R-HSA-3928663|reactome:R-HSA-416572|reactome:R-HSA-445355|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|refseq:NP_066299.2|refseq:NP_524147.2 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LhE3NUqcuHlOla13C0vjnFZfzy89606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14257 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-356710|uniprotkb:A8MTG6|uniprotkb:Q53XN8|ensembl:ENSP00000378349|uniprotkb:F8WCY5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rcn2_human(display_long)|uniprotkb:RCN2(gene name)|psi-mi:RCN2(display_short)|uniprotkb:ERC55(gene name synonym)|uniprotkb:Calcium-binding protein ERC-55(gene name synonym)|uniprotkb:E6-binding protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002893.1|ensembl:ENST00000394885(transcript)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|ensembl:ENSG00000117906(gene)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR018247|mint:Q14257|refseq:NP_001258766.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:99ru/7eYUvZ5xdb+x4inbib3PP89606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P37275 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2849734|uniprotkb:Q12924|uniprotkb:Q5T968|uniprotkb:Q13800|uniprotkb:Q2KJ05|uniprotkb:B4DJV0|uniprotkb:B4DUW9|uniprotkb:E9PCM7|uniprotkb:F5H4I8|uniprotkb:Q5VZ84|uniprotkb:Q8NB68|intact:EBI-11153310|ensembl:ENSP00000319248 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zeb1_human(display_long)|uniprotkb:ZEB1(gene name)|psi-mi:ZEB1(display_short)|uniprotkb:AREB6(gene name synonym)|uniprotkb:TCF8(gene name synonym)|uniprotkb:NIL-2-A zinc finger protein(gene name synonym)|uniprotkb:Negative regulator of IL2(gene name synonym)|uniprotkb:Transcription factor 8(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001121600.1|refseq:NP_001167565.1|refseq:NP_001167566.1|refseq:NP_110378.3|refseq:NP_001167564.1|refseq:NP_001167567.1|ensembl:ENSG00000148516(gene)|ensembl:ENST00000320985(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007399"(nervous system development)|go:"GO:0008270"(zinc ion binding)|go:"GO:0030154"(cell differentiation)|go:"GO:0045602"(negative regulation of endothelial cell differentiation)|go:"GO:0045666"(positive regulation of neuron differentiation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0048856"(anatomical structure development)|go:"GO:0070888"(E-box binding)|interpro:IPR001356(Homeobox)|interpro:IPR008598(Drought induced 19)|interpro:IPR009057(Homeodomain-like)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|rcsb pdb:2E19|reactome:R-HSA-6785807|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2QwbT74tbgA6Jec85fGMRYg0EBI9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13045 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351549|ensembl:ENSP00000491480|ensembl:ENSP00000324573|uniprotkb:B4DIL0|uniprotkb:F5H407|uniprotkb:J3QLG3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:flii_human(display_long)|uniprotkb:FLII(gene name)|psi-mi:FLII(display_short)|uniprotkb:FLIL(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002009.1|refseq:NP_001243193.1|ensembl:ENST00000327031(transcript)|ensembl:ENST00000638207(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005903"(brush border)|go:"GO:0005925"(focal adhesion)|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030239"(myofibril assembly)|go:"GO:0034451"(centriolar satellite)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR003591(Leucine-rich repeat, typical subtype)|interpro:IPR007122(Gelsolin)|interpro:IPR007123(Gelsolin region)|interpro:IPR029006|interpro:IPR029919|interpro:IPR032675|mint:Q13045|ensembl:ENSG00000177731(gene)|ensembl:ENSG00000284571(gene)|refseq:NP_001243194.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:hzls0Ir+lr0+wNsTUeIURV3fXVQ9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q6WCQ1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1022605|uniprotkb:Q3KQZ5|uniprotkb:Q5FB94|uniprotkb:Q6DHW2|uniprotkb:Q7Z5Y2|uniprotkb:Q8N390|uniprotkb:Q96G40|ensembl:ENSP00000342379 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mprip_human(display_long)|uniprotkb:MRIP(gene name synonym)|uniprotkb:Rho-interacting protein 3(gene name synonym)|uniprotkb:p116Rip(gene name synonym)|uniprotkb:MPRIP(gene name)|psi-mi:MPRIP(display_short)|uniprotkb:KIAA0864(gene name synonym)|uniprotkb:RHOIP3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000133030(gene)|ensembl:ENST00000341712(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0007015"(actin filament organization)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0045296"(cadherin binding)|go:"GO:0051015"(actin filament binding)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR039597|mint:Q6WCQ1|reactome:R-HSA-6802952|refseq:NP_055949.2|refseq:NP_958431.2 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:QoGbbg2ehuQogDM1Dlxzw6xj59s9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96JN0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-746045|uniprotkb:Q9H945|uniprotkb:Q9Y457|ensembl:ENSP00000348298|ensembl:ENSP00000360138|ensembl:ENSP00000360144|ensembl:ENSP00000501560|ensembl:ENSP00000501639|ensembl:ENSP00000502633|intact:EBI-8833163|uniprotkb:D3DR47|uniprotkb:Q5VW16|uniprotkb:Q7Z723|uniprotkb:Q86T32|uniprotkb:Q86T33|uniprotkb:Q8N3L6|uniprotkb:Q8N655 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lcor_human(display_long)|uniprotkb:LCOR(gene name)|psi-mi:LCOR(display_short)|uniprotkb:C10orf12(gene name synonym)|uniprotkb:KIAA1795(gene name synonym)|uniprotkb:MLR2(gene name synonym)|uniprotkb:Mblk1-related protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000196233(gene)|ensembl:ENST00000356016(transcript)|ensembl:ENST00000371097(transcript)|ensembl:ENST00000371103(transcript)|ensembl:ENST00000675471(transcript)|ensembl:ENST00000675537(transcript)|ensembl:ENST00000675971(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003677"(DNA binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0030331"(estrogen receptor binding)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:1990226"(histone methyltransferase binding)|go:"GO:1990381"(ubiquitin-specific protease binding)|interpro:IPR007889(Helix-turn-helix, Psq)|interpro:IPR009057(Homeodomain-like)|mint:Q96JN0|rcsb pdb:2COB|refseq:NP_001164236.1|refseq:NP_001164237.1|refseq:NP_115816.2|refseq:XP_016872275.1|refseq:XP_016872276.1|refseq:XP_016872277.1|refseq:NP_001333445.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:cOnk6EDDff86yaG1uG+dxEQ1Z689606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35580 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351758|intact:EBI-7850240|intact:MINT-8330016|uniprotkb:B2RWP9|uniprotkb:D3DTS1|uniprotkb:Q9BWG0|uniprotkb:Q12989|uniprotkb:Q16087|uniprotkb:Q149N3|ensembl:ENSP00000269243|uniprotkb:Q149N4|uniprotkb:Q6PK16|uniprotkb:F8VTL3|uniprotkb:Q4LE45 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myh10_human(display_long)|uniprotkb:MYH10(gene name)|psi-mi:MYH10(display_short)|uniprotkb:Myosin heavy chain 10(gene name synonym)|uniprotkb:Myosin heavy chain, non-muscle IIb(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain IIb(gene name synonym)|uniprotkb:Cellular myosin heavy chain, type B(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain B(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001243024.1|refseq:NP_001242941.1|refseq:NP_005955.3|ensembl:ENSG00000133026(gene)|ensembl:ENST00000269243(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0000281"(mitotic cytokinesis)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0005938"(cell cortex)|go:"GO:0007155"(cell adhesion)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0016459"(myosin complex)|go:"GO:0016460"(myosin II complex)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0030027"(lamellipodium)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030496"(midbody)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0032154"(cleavage furrow)|go:"GO:0035613"(RNA stem-loop binding)|go:"GO:0042641"(actomyosin)|go:"GO:0043531"(ADP binding)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0050714"(positive regulation of protein secretion)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097513"(myosin II filament)|go:"GO:0098885"(modification of postsynaptic actin cytoskeleton)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002928(Myosin tail)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR008989(Myosin S1 fragment, N-terminal)|interpro:IPR027417|interpro:IPR036961|mint:P35580|rcsb pdb:4PD3|reactome:R-HSA-3928663|reactome:R-HSA-416572|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|refseq:XP_016880169.1|refseq:XP_016880170.1|refseq:XP_016880171.1|dip:DIP-31110N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iSHfJZbrWg1L+vSpu1n7RmTTNN49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9Y657 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-727129|uniprotkb:Q7KZJ8|uniprotkb:Q9GZT2|uniprotkb:Q9H0N7|uniprotkb:A8K0X6|uniprotkb:B3KRQ4|ensembl:ENSP00000365019 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:spin1_human(display_long)|uniprotkb:Ovarian cancer-related protein(gene name synonym)|uniprotkb:SPIN1(gene name)|psi-mi:SPIN1(display_short)|uniprotkb:OCR(gene name synonym)|uniprotkb:SPIN(gene name synonym)|uniprotkb:Spindlin1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006708.2|ensembl:ENSG00000106723(gene)|ensembl:ENST00000375859(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006325"(chromatin organization)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0007276"(gamete generation)|go:"GO:0009303"(rRNA transcription)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0030177"(positive regulation of Wnt signaling pathway)|go:"GO:0031965"(nuclear membrane)|go:"GO:0035064"(methylated histone binding)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0051321"(meiotic cell cycle)|interpro:IPR003671(Spindlin/spermiogenesis-specific protein)|interpro:IPR029565|interpro:IPR042567|mint:Q9Y657|rcsb pdb:2NS2|rcsb pdb:4H75|rcsb pdb:4MZF|rcsb pdb:4MZG|rcsb pdb:4MZH|rcsb pdb:5JSG|rcsb pdb:5JSJ|rcsb pdb:5Y5W|rcsb pdb:6I8B|rcsb pdb:6I8L|rcsb pdb:6I8Y|rcsb pdb:6QPL|rcsb pdb:7BQZ|rcsb pdb:7BU9|rcsb pdb:7CNA|dip:DIP-40062N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:OY/wCdms/yjDXj5aY2QffHXXXUY9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q562R1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1773495|uniprotkb:Q562R2|uniprotkb:Q562S9|uniprotkb:Q562X8|uniprotkb:B2RPJ1|ensembl:ENSP00000416706 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actbl_human(display_long)|uniprotkb:ACTBL2(gene name)|psi-mi:ACTBL2(display_short)|uniprotkb:Kappa-actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001017992.1|ensembl:ENSG00000169067(gene)|ensembl:ENST00000423391(transcript)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005884"(actin filament)|go:"GO:0007409"(axonogenesis)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030424"(axon)|go:"GO:0035267"(NuA4 histone acetyltransferase complex)|go:"GO:0045202"(synapse)|go:"GO:0048870"(cell motility)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098973"(structural constituent of postsynaptic actin cytoskeleton)|go:"GO:0098978"(glutamatergic synapse)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:Q562R1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GTzKP5YRJGH8ocAJW0WEsdQFEdc9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9H6R7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-346906|uniprotkb:D6W532|uniprotkb:Q8IYK0|uniprotkb:Q9HBP5|ensembl:ENSP00000295148 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:wdcp_human(display_long)|uniprotkb:WDCP(gene name)|psi-mi:WDCP(display_short)|uniprotkb:C2orf44(gene name synonym)|uniprotkb:PP384(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001135791.1|refseq:NP_079479.1|ensembl:ENSG00000163026(gene)|ensembl:ENST00000295148(transcript)|go:"GO:0019900"(kinase binding)|go:"GO:0051259"(protein complex oligomerization)|interpro:IPR028041|mint:Q9H6R7 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:qT8Zfifj+1U5HvWjtXjKTiVj1OA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8N556 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-3893163|uniprotkb:A8K442|uniprotkb:Q59EY5|uniprotkb:Q9HBY1|uniprotkb:B4DMU2|uniprotkb:E9PDT7|ensembl:ENSP00000351245|ensembl:ENSP00000353402 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:afap1_human(display_long)|uniprotkb:AFAP1(gene name)|psi-mi:AFAP1(display_short)|uniprotkb:AFAP(gene name synonym)|uniprotkb:110 kDa actin filament-associated protein(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_011511846.1|refseq:NP_001128119.1|refseq:NP_940997.1|ensembl:ENSG00000196526(gene)|ensembl:ENST00000358461(transcript)|ensembl:ENST00000360265(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0009966"(regulation of signal transduction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0017124"(SH3 domain binding)|go:"GO:0042169"(SH2 domain binding)|go:"GO:0051493"(regulation of cytoskeleton organization)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR029907|interpro:IPR030113 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:RhPsp6U+J4FoLPSuXCw0KChvMOg9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q8N3V7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352936|intact:EBI-28982054|ensembl:ENSP00000377789|ensembl:ENSP00000428378|uniprotkb:O15271|uniprotkb:Q9UPX1|uniprotkb:A5PKZ8|uniprotkb:D3DQG8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:synpo_human(display_long)|uniprotkb:SYNPO(gene name)|psi-mi:SYNPO(display_short)|uniprotkb:KIAA1029(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000171992(gene)|ensembl:ENST00000394243(transcript)|ensembl:ENST00000522122(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030018"(Z disc)|go:"GO:0032233"(positive regulation of actin filament bundle assembly)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0051492"(regulation of stress fiber assembly)|go:"GO:0097444"(spine apparatus)|go:"GO:1905355"(spine apparatus assembly)|interpro:IPR028753|mint:Q8N3V7|go:"GO:0098886"(modification of dendritic spine)|refseq:NP_001103444.1|refseq:NP_001159680.1|refseq:NP_001159681.1|refseq:NP_009217.3|ensembl:ENST00000307662|ensembl:ENSP00000302139|ensembl:ENSP00000377789|ensembl:ENST00000519664|ensembl:ENSP00000429268|ensembl:ENSP00000428378|refseq:XP_011535854.1|refseq:XP_005268427.1|refseq:XP_005268428.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rCCRVthnF+JTqcwh9lD+GFoWIpo9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O60315 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-717614|uniprotkb:A0JP09|uniprotkb:Q9UED1|uniprotkb:B7Z2P2|uniprotkb:F5H814|ensembl:ENSP00000386854|ensembl:ENSP00000454157|ensembl:ENSP00000487174 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zeb2_human(display_long)|uniprotkb:Zinc finger homeobox protein 1b(gene name synonym)|uniprotkb:Smad-interacting protein 1(gene name synonym)|uniprotkb:ZEB2(gene name)|psi-mi:ZEB2(display_short)|uniprotkb:KIAA0569(gene name synonym)|uniprotkb:SIP1(gene name synonym)|uniprotkb:ZFX1B(gene name synonym)|uniprotkb:HRIHFB2411(orf name)|uniprotkb:ZFHX1B(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001165124.1|refseq:NP_055610.1|ensembl:ENST00000409487(transcript)|ensembl:ENST00000558170(transcript)|ensembl:ENST00000627532(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|ensembl:ENSG00000169554(gene)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007399"(nervous system development)|go:"GO:0019208"(phosphatase regulator activity)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045636"(positive regulation of melanocyte differentiation)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|go:"GO:0048023"(positive regulation of melanin biosynthetic process)|go:"GO:0048066"(developmental pigmentation)|go:"GO:0048856"(anatomical structure development)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0097324"(melanocyte migration)|go:"GO:1903056"(regulation of melanosome organization)|interpro:IPR001356(Homeobox)|interpro:IPR008598(Drought induced 19)|interpro:IPR009057(Homeodomain-like)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|mint:O60315|rcsb pdb:2DA7|go:"GO:0030511"(positive regulation of transforming growth factor beta receptor signaling pathway)|refseq:XP_006712944.1|refseq:XP_006712945.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:KIKq943mmyO6wbsDamXsyo0OnEo9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q16643 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351394|uniprotkb:Q9UFZ5|uniprotkb:B2RBG0|ensembl:ENSP00000308532|intact:EBI-4404710|uniprotkb:A8MV58 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dreb_human(display_long)|uniprotkb:DBN1(gene name)|psi-mi:DBN1(display_short)|uniprotkb:Developmentally-regulated brain protein(gene name synonym)|uniprotkb:D0S117E(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004386.2|refseq:NP_543157.1|refseq:XP_005265884.1|ensembl:ENSG00000113758(gene)|ensembl:ENST00000309007(transcript)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0003779"(actin binding)|go:"GO:0005522"(profilin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005921"(gap junction)|go:"GO:0007015"(actin filament organization)|go:"GO:0010643"(cell communication by chemical coupling)|go:"GO:0010644"(cell communication by electrical coupling)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0042641"(actomyosin)|go:"GO:0030425"(dendrite)|go:"GO:0045211"(postsynaptic membrane)|go:"GO:0045296"(cadherin binding)|go:"GO:0045773"(positive regulation of axon extension)|go:"GO:0048168"(regulation of neuronal synaptic plasticity)|go:"GO:0048812"(neuron projection morphogenesis)|go:"GO:0050773"(regulation of dendrite development)|go:"GO:0051015"(actin filament binding)|go:"GO:0051220"(cytoplasmic sequestering of protein)|go:"GO:0061003"(positive regulation of dendritic spine morphogenesis)|go:"GO:0061351"(neural precursor cell proliferation)|go:"GO:0098974"(postsynaptic actin cytoskeleton organization)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099524"(postsynaptic cytosol)|go:"GO:1902685"(positive regulation of receptor localization to synapse)|interpro:IPR002108(Actin-binding, cofilin/tropomyosin type)|interpro:IPR028438|interpro:IPR029006|mint:Q16643|go:"GO:0030426"(growth cone)|go:"GO:0030427"(site of polarized growth)|go:"GO:0030833"(regulation of actin filament polymerization)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031915"(positive regulation of synaptic plasticity)|rcsb pdb:5Y1Z|rcsb pdb:5ZZ9|reactome:R-HSA-9013405|reactome:R-HSA-9013407|reactome:R-HSA-9013418|reactome:R-HSA-9013422|go:"GO:0032507"(maintenance of protein location in cell)|refseq:XP_016864629.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0+VPJM5mTuG2jzmzGG3iLswmCUc9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q08211 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352022|intact:EBI-1058470|uniprotkb:Q5VY62|uniprotkb:Q6PD69|uniprotkb:Q99556|uniprotkb:B2RNV4|uniprotkb:Q05CI5|uniprotkb:Q12803|uniprotkb:Q32Q22|ensembl:ENSP00000356520 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:dhx9_human(display_long)|uniprotkb:DHX9(gene name)|psi-mi:DHX9(display_short)|uniprotkb:DDX9(gene name synonym)|uniprotkb:NDH2(gene name synonym)|uniprotkb:DExH-box helicase 9(gene name synonym)|uniprotkb:RNA helicase A(gene name synonym)|uniprotkb:LKP(gene name synonym)|uniprotkb:Nuclear DNA helicase II(gene name synonym)|uniprotkb:DEAH box protein 9(gene name synonym)|uniprotkb:Leukophysin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001348.2|dip:DIP-31504N|go:"GO:0017111"(nucleoside-triphosphatase activity)|go:"GO:0030423"(targeting of mRNA for destruction involved in RNA interference)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0032508"(DNA duplex unwinding)|go:"GO:0032727"(positive regulation of interferon-alpha production)|go:"GO:0032728"(positive regulation of interferon-beta production)|go:"GO:0032741"(positive regulation of interleukin-18 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033679"(3'-5' DNA/RNA helicase activity)|go:"GO:0034458"(3'-5' RNA helicase activity)|go:"GO:0034622"|go:"GO:0035197"(siRNA binding)|go:"GO:0035613"(RNA stem-loop binding)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0039695"(DNA-templated viral transcription)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0043138"(3'-5' DNA helicase activity)|go:"GO:0044806"(G-quadruplex DNA unwinding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045142"(triplex DNA binding)|go:"GO:0045739"(positive regulation of DNA repair)|go:"GO:0045740"(positive regulation of DNA replication)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046833"(positive regulation of RNA export from nucleus)|go:"GO:0046872"(metal ion binding)|go:"GO:0047429"(nucleoside-triphosphate diphosphatase activity)|go:"GO:0048146"(positive regulation of fibroblast proliferation)|go:"GO:0048511"(rhythmic process)|go:"GO:0050434"(positive regulation of viral transcription)|go:"GO:0050684"(regulation of mRNA processing)|go:"GO:0050691"(regulation of defense response to virus by host)|go:"GO:0050729"(positive regulation of inflammatory response)|go:"GO:0051028"(mRNA transport)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0060760"(positive regulation of response to cytokine stimulus)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0061676"(importin-alpha family protein binding)|go:"GO:0070063"(RNA polymerase binding)|go:"GO:0070269"(pyroptosis)|go:"GO:0070578"(RISC-loading complex)|go:"GO:0070922"(small RNA loading onto RISC)|go:"GO:0070934"(CRD-mediated mRNA stabilization)|go:"GO:0070937"(CRD-mediated mRNA stability complex)|go:"GO:0071356"(cellular response to tumor necrosis factor)|go:"GO:0071360"(cellular response to exogenous dsRNA)|go:"GO:0097165"(nuclear stress granule)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1903608"(protein localization to cytoplasmic stress granule)|go:"GO:1905172"(RISC complex binding)|go:"GO:1905538"(polysome binding)|go:"GO:1905698"(positive regulation of polysome binding)|go:"GO:1990518"(single-stranded 3'-5' DNA helicase activity)|go:"GO:1990825"(sequence-specific mRNA binding)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000373"("positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity")|go:"GO:2000637"(positive regulation of gene silencing by miRNA)|go:"GO:2000765"(regulation of cytoplasmic translation)|go:"GO:2000767"(positive regulation of cytoplasmic translation)|interpro:IPR001650(DNA/RNA helicase, C-terminal)|interpro:IPR002464(DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site)|interpro:IPR007502(Helicase-associated region)|interpro:IPR011545(DNA/RNA helicase, DEAD/DEAH box type, N-terminal)|interpro:IPR011709(Region of unknown function DUF1605)|interpro:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR014720(Double-stranded RNA-binding-like)|interpro:IPR027417|interpro:IPR044445|interpro:IPR044446|interpro:IPR044447|mint:Q08211|rcsb pdb:3LLM|rcsb pdb:3VYX|rcsb pdb:3VYY|reactome:R-HSA-1810476|reactome:R-HSA-3134963|reactome:R-HSA-72163|go:"GO:1904973"(positive regulation of viral translation)|ensembl:ENSG00000135829(gene)|ensembl:ENST00000367549(transcript)|go:"GO:0000380"(alternative mRNA splicing, via spliceosome)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000993"(RNA polymerase II complex binding)|go:"GO:0001069"(regulatory region RNA binding)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003677"(DNA binding)|go:"GO:0003678"(DNA helicase activity)|go:"GO:0003688"(DNA replication origin binding)|go:"GO:0003690"(double-stranded DNA binding)|go:"GO:0003697"(single-stranded DNA binding)|go:"GO:0003712"(transcription coregulator activity)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0003724"(RNA helicase activity)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0003727"(single-stranded RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005726"(perichromatin fibrils)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0006260"(DNA replication)|go:"GO:0006353"(DNA-templated transcription, termination)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006954"(inflammatory response)|go:"GO:0010501"(RNA secondary structure unwinding)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016442"(RISC complex)|go:"GO:0016604"(nuclear body) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:b0VP2Frtvwa9WbYVMwB6TbV2uGU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14247 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351886|intact:EBI-3959948|ensembl:ENSP00000301843|ensembl:ENSP00000500756|uniprotkb:Q8N707|uniprotkb:Q96H99 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:src8_human(display_long)|uniprotkb:CTTN(gene name)|psi-mi:CTTN(display_short)|uniprotkb:EMS1(gene name synonym)|uniprotkb:Amplaxin(gene name synonym)|uniprotkb:Oncogene EMS1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005222.2|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006898"(receptor-mediated endocytosis)|go:"GO:0006930"(substrate-dependent cell migration, cell extension)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0030027"(lamellipodium)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0030427"(site of polarized growth)|go:"GO:0030516"(regulation of axon extension)|go:"GO:0030833"(regulation of actin filament polymerization)|go:"GO:0030838"(positive regulation of actin filament polymerization)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0043197"(dendritic spine)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045296"(cadherin binding)|go:"GO:0045987"(positive regulation of smooth muscle contraction)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0048812"(neuron projection morphogenesis)|go:"GO:0048870"(cell motility)|go:"GO:0051015"(actin filament binding)|go:"GO:0097062"(dendritic spine maintenance)|go:"GO:0097581"(lamellipodium organization)|go:"GO:1903146"(regulation of autophagy of mitochondrion)|go:"GO:1990023"(mitotic spindle midzone)|go:"GO:2001237"(negative regulation of extrinsic apoptotic signaling pathway)|interpro:IPR001452(Src homology-3)|interpro:IPR003134(Hs1/Cortactin)|interpro:IPR015503(Cortactin)|interpro:IPR035716|interpro:IPR036028|mint:Q14247|rcsb pdb:1X69|rcsb pdb:2D1X|reactome:R-HSA-5627123|reactome:R-HSA-8856828|ensembl:ENSG00000085733(gene)|ensembl:ENSG00000288401(gene)|ensembl:ENST00000301843(transcript)|ensembl:ENST00000671805(transcript)|go:"GO:0001726"(ruffle)|go:"GO:0002102"(podosome)|go:"GO:0005522"(profilin binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005905"(clathrin-coated pit)|go:"GO:0005925"(focal adhesion)|go:"GO:0005938"(cell cortex)|refseq:NP_001171669.1|refseq:NP_612632.1|dip:DIP-33190N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uzhAnL5Fu9Mgg9/LWeNiaYIwNVU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O95785 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1387294|uniprotkb:B7ZM82|uniprotkb:Q4G0E0|uniprotkb:Q6P6B0|uniprotkb:Q6ZN24|uniprotkb:Q7LDY6|uniprotkb:Q7LDZ1|uniprotkb:Q96IG5|uniprotkb:Q96SQ6|uniprotkb:Q9BUR8|uniprotkb:Q9NPT1|intact:EBI-10967552|uniprotkb:B3KVH1|uniprotkb:M0QY21 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:wiz_human(display_long)|uniprotkb:WIZ(gene name)|psi-mi:WIZ(display_short)|uniprotkb:ZNF803(gene name synonym)|uniprotkb:Widely-interspaced zinc finger-containing protein(gene name synonym)|uniprotkb:Zinc finger protein 803(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_067064.2|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|refseq:NP_001317324.1|interpro:IPR036236|mint:O95785|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0010571"(positive regulation of nuclear cell cycle DNA replication)|go:"GO:0030496"(midbody)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0070062"(extracellular exosome)|go:"GO:1990226"(histone methyltransferase binding) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:FMQwuMDlEC/Zdsnayyl7kpQSmyg9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06748 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-78579|uniprotkb:P08693|uniprotkb:Q12826|uniprotkb:Q13440|uniprotkb:Q13441|uniprotkb:Q14115|uniprotkb:Q5EU94|uniprotkb:Q5EU95|uniprotkb:Q5EU96|uniprotkb:Q5EU97|uniprotkb:Q5EU98|uniprotkb:Q5EU99|uniprotkb:Q6V962|uniprotkb:Q8WTW5|uniprotkb:Q96AT6|uniprotkb:Q96DC4|uniprotkb:Q96EA5|uniprotkb:A8K3N7|uniprotkb:B5BU00|uniprotkb:Q9UDJ7|uniprotkb:D3DQL6|uniprotkb:Q9BYG9|ensembl:ENSP00000296930|ensembl:ENSP00000428755 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:npm_human(display_long)|uniprotkb:NPM1(gene name)|psi-mi:NPM1(display_short)|uniprotkb:NPM(gene name synonym)|uniprotkb:Nucleolar phosphoprotein B23(gene name synonym)|uniprotkb:Numatrin(gene name synonym)|uniprotkb:Nucleolar protein NO38(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002511.1|refseq:NP_954654.1|refseq:NP_001032827.1|dip:DIP-30932N|ensembl:ENSG00000181163(gene)|ensembl:ENST00000296930(transcript)|ensembl:ENST00000517671(transcript)|go:"GO:0000055"(ribosomal large subunit export from nucleus)|go:"GO:0000056"(ribosomal small subunit export from nucleus)|go:"GO:0001046"(core promoter sequence-specific DNA binding)|go:"GO:0001558"(regulation of cell growth)|go:"GO:0001652"(granular component)|go:"GO:0003682"(chromatin binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0004860"(protein kinase inhibitor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0006281"(DNA repair)|go:"GO:0006334"(nucleosome assembly)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0006407"(rRNA export from nucleus)|go:"GO:0006884"(cell volume homeostasis)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006913"(nucleocytoplasmic transport)|go:"GO:0007098"(centrosome cycle)|go:"GO:0007165"(signal transduction)|go:"GO:0007569"(cell aging)|go:"GO:0008104"(protein localization)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0010824"(regulation of centrosome duplication)|go:"GO:0010825"(positive regulation of centrosome duplication)|go:"GO:0010826"(negative regulation of centrosome duplication)|go:"GO:0015934"(large ribosomal subunit)|go:"GO:0015935"(small ribosomal subunit)|go:"GO:0016020"(membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0019843"(rRNA binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030957"(Tat protein binding)|go:"GO:0031398"(positive regulation of protein ubiquitination)|go:"GO:0031616"(spindle pole centrosome)|go:"GO:0032071"(regulation of endodeoxyribonuclease activity)|go:"GO:0032991"(protein-containing complex)|go:"GO:0032993"(protein-DNA complex)|go:"GO:0034644"(cellular response to UV)|go:"GO:0042255"(ribosome assembly)|go:"GO:0042273"(ribosomal large subunit biogenesis)|go:"GO:0042274"(ribosomal small subunit biogenesis)|go:"GO:0042393"(histone binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043023"(ribosomal large subunit binding)|go:"GO:0043024"(ribosomal small subunit binding)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043516"(regulation of DNA damage response, signal transduction by p53 class mediator)|go:"GO:0044387"(negative regulation of protein kinase activity by regulation of protein phosphorylation)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046599"(regulation of centriole replication)|go:"GO:0047485"(protein N-terminus binding)|go:"GO:0048025"(negative regulation of mRNA splicing, via spliceosome)|go:"GO:0050821"(protein stabilization)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0060699"(regulation of endoribonuclease activity)|go:"GO:0060735"(regulation of eIF2 alpha phosphorylation by dsRNA)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1902629"(regulation of mRNA stability involved in cellular response to UV)|go:"GO:1902751"(positive regulation of cell cycle G2/M phase transition)|go:"GO:1904751"(positive regulation of protein localization to nucleolus)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR004301(Nucleoplasmin)|interpro:IPR024057|interpro:IPR032569|interpro:IPR036824|mint:P06748|rcsb pdb:2LLH|rcsb pdb:2P1B|rcsb pdb:2VXD|rcsb pdb:5EHD|reactome:R-HSA-180746|reactome:R-HSA-3899300|reactome:R-HSA-606279|reactome:R-HSA-6804115|reactome:R-HSA-8869496 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HJ7Mg+XsIhuJiScPKiI0dIa6KpM9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68363 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-487083|intact:EBI-1384226|uniprotkb:P04687|uniprotkb:P05209|uniprotkb:Q27I68|ensembl:ENSP00000336799|uniprotkb:Q8WU19 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tba1b_human(display_long)|uniprotkb:TUBA1B(gene name)|psi-mi:TUBA1B(display_short)|uniprotkb:Tubulin alpha-ubiquitous chain(gene name synonym)|uniprotkb:Alpha-tubulin ubiquitous(gene name synonym)|uniprotkb:Tubulin K-alpha-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006073.2|ensembl:ENSG00000123416(gene)|ensembl:ENST00000336023(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0005881"(cytoplasmic microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0030705"(cytoskeleton-dependent intracellular transport)|go:"GO:0031625"(ubiquitin protein ligase binding)|reactome:R-HSA-983189|go:"GO:0071353"(cellular response to interleukin-4)|interpro:IPR000217(Tubulin)|go:"GO:0045121"(membrane raft)|interpro:IPR002452(Alpha tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P68363|rcsb pdb:2E4H|rcsb pdb:5IJ0|rcsb pdb:5IJ9|rcsb pdb:5N5N|rcsb pdb:6E7B|rcsb pdb:6E7C|rcsb pdb:6I2I|go:"GO:0051301"(cell division)|rcsb pdb:6J4V|rcsb pdb:6J8O|rcsb pdb:6QUS|rcsb pdb:6QUY|rcsb pdb:6QVE|rcsb pdb:6QVJ|rcsb pdb:6S8L|reactome:R-HSA-1445148|reactome:R-HSA-190840|reactome:R-HSA-190861|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3371497|reactome:R-HSA-380320|reactome:R-HSA-389960|reactome:R-HSA-389977|reactome:R-HSA-437239|reactome:R-HSA-5610787|reactome:R-HSA-5617833|reactome:R-HSA-5620924|reactome:R-HSA-5626467|reactome:R-HSA-5663220|reactome:R-HSA-6807878|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-68877|reactome:R-HSA-8852276|reactome:R-HSA-8955332|reactome:R-HSA-9013407|reactome:R-HSA-9609690|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9646399|reactome:R-HSA-9648025|reactome:R-HSA-2132295|reactome:R-HSA-9668328 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:D4YpuLCXl/S+53qV7P7sF81aARY9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P48681 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-10966836|ensembl:ENSP00000357206|uniprotkb:Q5SYZ6|uniprotkb:Q3LIF5|uniprotkb:O00552 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nest_human(display_long)|uniprotkb:NES(gene name)|psi-mi:NES(display_short)|uniprotkb:Nbla00170(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006608.1|ensembl:ENSG00000132688(gene)|ensembl:ENST00000368223(transcript)|go:"GO:0000086"(G2/M transition of mitotic cell cycle)|go:"GO:0005737"(cytoplasm)|go:"GO:0005882"(intermediate filament)|go:"GO:0007417"(central nervous system development)|go:"GO:0007420"(brain development)|go:"GO:0019215"(intermediate filament binding)|go:"GO:0030844"(positive regulation of intermediate filament depolymerization)|go:"GO:0031076"(embryonic camera-type eye development)|go:"GO:0031730"(CCR5 chemokine receptor binding)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0043086"(negative regulation of catalytic activity)|go:"GO:0043524"(negative regulation of neuron apoptotic process)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0048858"(cell projection morphogenesis)|go:"GO:0072089"(stem cell proliferation)|go:"GO:2000179"(positive regulation of neural precursor cell proliferation)|interpro:IPR018039|interpro:IPR031211|interpro:IPR039008|mint:P48681 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IEPf+MleiqNi+QAX57rAn4tYId09606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9P0K7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1023749|uniprotkb:Q6V1W9|uniprotkb:Q7Z5I4|uniprotkb:Q7Z733|uniprotkb:Q9P2L2|uniprotkb:Q9Y3T5|uniprotkb:E9PED3|intact:EBI-2555698|ensembl:ENSP00000265109|ensembl:ENSP00000388725|ensembl:ENSP00000422942 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rai14_human(display_long)|uniprotkb:Ankyrin repeat and coiled-coil structure-containing protein(gene name synonym)|uniprotkb:Retinoic acid-induced protein 14(gene name synonym)|uniprotkb:Novel retinal pigment epithelial cell protein(gene name synonym)|uniprotkb:RAI14(gene name)|psi-mi:RAI14(display_short)|uniprotkb:KIAA1334(gene name synonym)|uniprotkb:NORPEG(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001138992.1|refseq:NP_001138993.1|refseq:NP_001138994.1|refseq:NP_001138995.1|refseq:NP_001138997.1|refseq:NP_056392.2|refseq:XP_011512319.1|refseq:XP_011512320.1|refseq:XP_011512321.1|refseq:XP_011512322.1|refseq:XP_011512323.1|refseq:XP_011512324.1|ensembl:ENSG00000039560(gene)|ensembl:ENST00000265109(transcript)|ensembl:ENST00000428746(transcript)|ensembl:ENST00000503673(transcript)|go:"GO:0001650"(fibrillar center)|go:"GO:0003779"(actin binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005938"(cell cortex)|go:"GO:0007283"(spermatogenesis)|go:"GO:0030054"(cell junction)|go:"GO:0030154"(cell differentiation)|interpro:IPR002110(Ankyrin)|interpro:IPR020683|interpro:IPR036770|interpro:IPR042420|mint:Q9P0K7|refseq:XP_006714532.1|refseq:XP_016864824.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:m5hQYx6HEi9QEAey1UiNpeAp6tw9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61158 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351428|uniprotkb:P32391|ensembl:ENSP00000263238|uniprotkb:Q53QM2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arp3_human(display_long)|uniprotkb:ACTR3(gene name)|psi-mi:ACTR3(display_short)|uniprotkb:ARP3(gene name synonym)|uniprotkb:Actin-like protein 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005712.1|ensembl:ENSG00000115091(gene)|ensembl:ENST00000263238(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005903"(brush border)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0007163"(establishment or maintenance of cell polarity)|go:"GO:0008356"(asymmetric cell division)|go:"GO:0010592"(positive regulation of lamellipodium assembly)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016344"(meiotic chromosome movement towards spindle pole)|go:"GO:0030027"(lamellipodium)|go:"GO:0033206"(meiotic cytokinesis)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035861"(site of double-strand break)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0051653"(spindle localization)|go:"GO:0060271"(cilium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070358"(actin polymerization-dependent cell motility)|go:"GO:0071346"(cellular response to interferon-gamma)|interpro:IPR004000(Actin/actin-like)|interpro:IPR015623(Actin-related protein 3)|interpro:IPR020902|interpro:IPR043129|mint:P61158|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-8856828|reactome:R-HSA-9664422|dip:DIP-33140N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:XbkZeKzG8lGbT8dxYkGqeJT0vEg9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F5H6E2 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-27043849|ensembl:ENSP00000437685 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f5h6e2_human(display_long)|uniprotkb:MYO1C(gene name)|psi-mi:MYO1C(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000197879(gene)|ensembl:ENST00000545534(transcript)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0016459"(myosin complex)|go:"GO:0016604"(nuclear body)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR010926(Myosin tail 2)|interpro:IPR027417|interpro:IPR036072|interpro:IPR036961 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:HtLoTN1CwLk8DE71S9WSclJnYy09606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P61160 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353580|ensembl:ENSP00000260641|uniprotkb:O15142|uniprotkb:Q96C82|uniprotkb:B2RCP5|uniprotkb:D6W5F4|uniprotkb:E9PF41 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:arp2_human(display_long)|uniprotkb:ACTR2(gene name)|psi-mi:ACTR2(display_short)|uniprotkb:ARP2(gene name synonym)|uniprotkb:Actin-like protein 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138071(gene)|ensembl:ENST00000260641(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005885"(Arp2/3 protein complex)|go:"GO:0005925"(focal adhesion)|go:"GO:0007163"(establishment or maintenance of cell polarity)|go:"GO:0008306"(associative learning)|go:"GO:0008356"(asymmetric cell division)|go:"GO:0010592"(positive regulation of lamellipodium assembly)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016344"(meiotic chromosome movement towards spindle pole)|go:"GO:0016482"(cytosolic transport)|go:"GO:0030027"(lamellipodium)|go:"GO:0030478"(actin cap)|go:"GO:0033206"(meiotic cytokinesis)|go:"GO:0034314"(Arp2/3 complex-mediated actin nucleation)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0035861"(site of double-strand break)|go:"GO:0035902"(response to immobilization stress)|go:"GO:0035984"(cellular response to trichostatin A)|go:"GO:0045471"(response to ethanol)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0051653"(spindle localization)|go:"GO:0060271"(cilium assembly)|go:"GO:0061003"(positive regulation of dendritic spine morphogenesis)|go:"GO:0061825"(podosome core)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:1904813"(ficolin-1-rich granule lumen)|refseq:NP_001005386.1|refseq:NP_005713.1|go:"GO:1905168"(positive regulation of double-strand break repair via homologous recombination)|interpro:IPR004000(Actin/actin-like)|interpro:IPR020902|interpro:IPR043129|mint:P61160|rcsb pdb:6UHC|rcsb pdb:6YW6|rcsb pdb:6YW7|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-5663213|reactome:R-HSA-6798695|reactome:R-HSA-8856828|reactome:R-HSA-9664422|dip:DIP-33165N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:URQsZpIsMtsFZAnpLYDDvgKcPqA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q14573 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351055|uniprotkb:Q14649|uniprotkb:Q5TAQ2|intact:EBI-28978202|ensembl:ENSP00000363435|ensembl:ENSP00000475177 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:itpr3_human(display_long)|uniprotkb:ITPR3(gene name)|psi-mi:ITPR3(display_short)|uniprotkb:Type 3 inositol 1,4,5-trisphosphate receptor(gene name synonym)|uniprotkb:IP3 receptor isoform 3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002215.2|ensembl:ENSP00000363435|ensembl:ENSP00000475177|ensembl:ENSG00000096433(gene)|ensembl:ENST00000374316(transcript)|ensembl:ENST00000605930(transcript)|go:"GO:0000822"(inositol hexakisphosphate binding)|go:"GO:0005220"(inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005640"(nuclear outer membrane)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007204"(positive regulation of cytosolic calcium ion concentration)|go:"GO:0015278"(calcium-release channel activity)|go:"GO:0016020"(membrane)|go:"GO:0016529"(sarcoplasmic reticulum)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0031095"(platelet dense tubular network membrane)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043209"(myelin sheath)|go:"GO:0043235"(receptor complex)|go:"GO:0043533"(inositol 1,3,4,5 tetrakisphosphate binding)|go:"GO:0045177"(apical part of cell)|go:"GO:0050913"(sensory perception of bitter taste)|go:"GO:0050916"(sensory perception of sweet taste)|go:"GO:0050917"(sensory perception of umami taste)|go:"GO:0051209"(release of sequestered calcium ion into cytosol)|go:"GO:0051592"(response to calcium ion)|go:"GO:0060291"(long-term synaptic potentiation)|go:"GO:0060402"(calcium ion transport into cytosol)|go:"GO:0070679"(inositol 1,4,5 trisphosphate binding)|interpro:IPR000493(Inositol 1,4,5-trisphosphate-binding protein receptor)|interpro:IPR000699(Intracellular calcium-release channel)|interpro:IPR005821(Ion transport)|interpro:IPR013662(RyR and IP3R Homology associated)|interpro:IPR014821(Inositol 1,4,5-trisphosphate/ryanodine receptor)|interpro:IPR016093(MIR motif)|interpro:IPR035910|interpro:IPR036300|mint:Q14573|rcsb pdb:6DQJ|rcsb pdb:6DQN|rcsb pdb:6DQS|rcsb pdb:6DQV|rcsb pdb:6DQZ|rcsb pdb:6DR0|rcsb pdb:6DR2|rcsb pdb:6DRA|rcsb pdb:6DRC|rcsb pdb:6UQK|reactome:R-HSA-112043|reactome:R-HSA-114508|reactome:R-HSA-139853|reactome:R-HSA-1489509|reactome:R-HSA-2029485|reactome:R-HSA-2871809|reactome:R-HSA-381676|reactome:R-HSA-4086398|reactome:R-HSA-422356|reactome:R-HSA-5218921|reactome:R-HSA-5578775|reactome:R-HSA-5607763|reactome:R-HSA-9664323|go:"GO:0007613"(memory)|reactome:R-HSA-983695 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:O+1OC4E0IrAOt+D672eXnhWHy3I9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9NYL9 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352614|ensembl:ENSP00000308753|uniprotkb:Q9NT43|uniprotkb:Q9NZR0|uniprotkb:B2R6G7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tmod3_human(display_long)|uniprotkb:TMOD3(gene name)|psi-mi:TMOD3(display_short)|uniprotkb:Ubiquitous tropomodulin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000138594(gene)|ensembl:ENST00000308580(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005523"(tropomyosin binding)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005865"(striated muscle thin filament)|go:"GO:0005912"(adherens junction)|go:"GO:0006936"(muscle contraction)|go:"GO:0007015"(actin filament organization)|go:"GO:0030016"(myofibril)|go:"GO:0030239"(myofibril assembly)|refseq:NP_055362.1|go:"GO:0048821"(erythrocyte development)|go:"GO:0051694"(pointed-end actin filament capping)|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|go:"GO:1901992"(positive regulation of mitotic cell cycle phase transition)|interpro:IPR004934(Tropomodulin)|interpro:IPR030133|interpro:IPR032675|mint:Q9NYL9|reactome:R-HSA-390522|reactome:R-HSA-9013418|reactome:R-HSA-9696264|refseq:XP_016877576.1|refseq:XP_016877577.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:crEfCAAepSPAE8ByBpD4Sr14P5I9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96SB3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351275|uniprotkb:Q8TCR9|intact:EBI-28984643|ensembl:ENSP00000478767|intact:EBI-4401886|uniprotkb:D3DTX6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:neb2_human(display_long)|uniprotkb:Neurabin-II(gene name synonym)|uniprotkb:Spinophilin(gene name synonym)|uniprotkb:Protein phosphatase 1 regulatory subunit 9B(gene name synonym)|uniprotkb:PPP1R9B(gene name)|psi-mi:PPP1R9B(display_short)|uniprotkb:PPP1R6(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000108819(gene)|ensembl:ENST00000612501(transcript)|go:"GO:0000164"(protein phosphatase type 1 complex)|go:"GO:0001560"(regulation of cell growth by extracellular stimulus)|go:"GO:0001932"(regulation of protein phosphorylation)|go:"GO:0001975"(response to amphetamine)|go:"GO:0003006"(developmental process involved in reproduction)|go:"GO:0004672"(protein kinase activity)|go:"GO:0004864"(protein phosphatase inhibitor activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0007015"(actin filament organization)|go:"GO:0007096"(regulation of exit from mitosis)|go:"GO:0007568"(aging)|go:"GO:0007612"(learning)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008157"(protein phosphatase 1 binding)|go:"GO:0008380"(RNA splicing)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016358"(dendrite development)|go:"GO:0016477"(cell migration)|go:"GO:0019722"(calcium-mediated signaling)|go:"GO:0019900"(kinase binding)|go:"GO:0021766"(hippocampus development)|go:"GO:0021987"(cerebral cortex development)|go:"GO:0030027"(lamellipodium)|go:"GO:0030042"(actin filament depolymerization)|go:"GO:0030175"(filopodium)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0030425"(dendrite)|go:"GO:0030426"(growth cone)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031175"(neuron projection development)|go:"GO:0031749"(D2 dopamine receptor binding)|go:"GO:0032515"(negative regulation of phosphoprotein phosphatase activity)|go:"GO:0032587"(ruffle membrane)|go:"GO:0034695"(response to prostaglandin E)|go:"GO:0035094"(response to nicotine)|go:"GO:0035690"|go:"GO:0035902"(response to immobilization stress)|go:"GO:0042127"(regulation of cell population proliferation)|go:"GO:0043025"(neuronal cell body)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0044326"(dendritic spine neck)|go:"GO:0044327"(dendritic spine head)|go:"GO:0046847"(filopodium assembly)|go:"GO:0048545"(response to steroid hormone)|go:"GO:0050804"(modulation of chemical synaptic transmission)|go:"GO:0051015"(actin filament binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0060179"(male mating behavior)|go:"GO:0061458"(reproductive system development)|go:"GO:0071315"(cellular response to morphine)|go:"GO:0071364"(cellular response to epidermal growth factor stimulus)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:0097338"(response to clozapine)|go:"GO:1901653"(cellular response to peptide)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|go:"GO:1903119"(protein localization to actin cytoskeleton)|go:"GO:1904372"(positive regulation of protein localization to actin cortical patch)|go:"GO:1904373"(response to kainic acid)|go:"GO:1904386"(response to L-phenylalanine derivative)|go:"GO:1990778"(protein localization to cell periphery)|go:"GO:1990780"(cytoplasmic side of dendritic spine plasma membrane)|go:"GO:2000474"(regulation of opioid receptor signaling pathway)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR029921|interpro:IPR036034|interpro:IPR040645|interpro:IPR043446|mint:Q96SB3|ensembl:ENSP00000478767|refseq:NP_115984.3 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:X6fQLpaYhXCqzRlQNEoX67P/HbU9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P62136 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-357253|uniprotkb:P08129|uniprotkb:P20653|uniprotkb:P22802|uniprotkb:B2R908|intact:EBI-2623163|uniprotkb:Q07161|intact:EBI-2556927|uniprotkb:A6NNR3|ensembl:ENSP00000365936 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:pp1a_human(display_long)|uniprotkb:PPP1CA(gene name)|psi-mi:PPP1CA(display_short)|uniprotkb:PPP1A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001008709.1|refseq:NP_002699.1|refseq:NP_996756.1|dip:DIP-221N|dip:DIP-38195N|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0035970"(peptidyl-threonine dephosphorylation)|go:"GO:0036496"(regulation of translational initiation by eIF2 alpha dephosphorylation)|go:"GO:0042587"(glycogen granule)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0043153"(entrainment of circadian clock by photoperiod)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0046872"(metal ion binding)|go:"GO:0048754"(branching morphogenesis of an epithelial tube)|go:"GO:0051301"(cell division)|go:"GO:0060828"(regulation of canonical Wnt signaling pathway)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070262"(peptidyl-serine dephosphorylation)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0106306"|go:"GO:0106307"|go:"GO:1904886"(beta-catenin destruction complex disassembly)|go:"GO:2001241"(positive regulation of extrinsic apoptotic signaling pathway in absence of ligand)|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR006186("Serine/threonine-specific protein phosphatase and bis(5-nucleosyl)-tetraphosphatase")|interpro:IPR029052|interpro:IPR031675|interpro:IPR037979|mint:P62136|rcsb pdb:3E7A|rcsb pdb:3E7B|rcsb pdb:3EGG|rcsb pdb:3EGH|rcsb pdb:3HVQ|rcsb pdb:3N5U|rcsb pdb:3V4Y|rcsb pdb:4G9J|rcsb pdb:4MOV|rcsb pdb:4MOY|rcsb pdb:4MP0|rcsb pdb:4XPN|rcsb pdb:5IOH|rcsb pdb:6ALZ|rcsb pdb:6CZO|rcsb pdb:6DCX|rcsb pdb:6DNO|rcsb pdb:6G0I|rcsb pdb:6G0J|rcsb pdb:6GHM|rcsb pdb:6OBN|rcsb pdb:6OBP|rcsb pdb:6OBQ|rcsb pdb:6OBR|rcsb pdb:6OBS|rcsb pdb:6OBU|rcsb pdb:6ZEE|rcsb pdb:6ZEF|rcsb pdb:6ZEG|rcsb pdb:6ZEH|rcsb pdb:6ZEI|rcsb pdb:6ZEJ|rcsb pdb:6ZK6|reactome:R-HSA-163560|reactome:R-HSA-180024|reactome:R-HSA-2173788|reactome:R-HSA-400253|go:"GO:0098793"(presynapse)|ensembl:ENSG00000172531(gene)|ensembl:ENST00000376745(transcript)|go:"GO:0000164"(protein phosphatase type 1 complex)|go:"GO:0004721"(phosphoprotein phosphatase activity)|go:"GO:0004722"(protein serine/threonine phosphatase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005977"(glycogen metabolic process)|go:"GO:0005979"(regulation of glycogen biosynthetic process)|go:"GO:0005981"(regulation of glycogen catabolic process)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007049"(cell cycle)|go:"GO:0008157"(protein phosphatase 1 binding)|go:"GO:0010288"(response to lead ion)|go:"GO:0016311"(dephosphorylation)|go:"GO:0016791"(phosphatase activity)|go:"GO:0030324"(lung development) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IMypaKng+5AECbCd3N72pgzUlxQ9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46940 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-297509|ensembl:ENSP00000268182|uniprotkb:A7MBM3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:iqga1_human(display_long)|uniprotkb:IQGAP1(gene name)|psi-mi:IQGAP1(display_short)|uniprotkb:KIAA0051(gene name synonym)|uniprotkb:p195(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000140575(gene)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005547"(phosphatidylinositol-3,4,5-trisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005874"(microtubule)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|ensembl:ENST00000268182(transcript)|go:"GO:0001726"(ruffle)|go:"GO:0005925"(focal adhesion)|go:"GO:0007165"(signal transduction)|go:"GO:0007173"(epidermal growth factor receptor signaling pathway)|go:"GO:0005078"(MAP-kinase scaffold activity)|go:"GO:0005095"(GTPase inhibitor activity)|go:"GO:0007346"(regulation of mitotic cell cycle)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0016477"(cell migration)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0030424"(axon)|go:"GO:0030426"(growth cone)|go:"GO:0030496"(midbody)|go:"GO:0031234"(extrinsic component of cytoplasmic side of plasma membrane)|go:"GO:0031267"(small GTPase binding)|go:"GO:0032956"(regulation of actin cytoskeleton organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0036057"(slit diaphragm)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0043005"(neuron projection)|go:"GO:0043087"(regulation of GTPase activity)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043410"(positive regulation of MAPK cascade)|go:"GO:0043539"(protein serine/threonine kinase activator activity)|go:"GO:0044548"(S100 protein binding)|go:"GO:0045121"(membrane raft)|go:"GO:0045296"(cadherin binding)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0051015"(actin filament binding)|go:"GO:0051019"(mitogen-activated protein kinase binding)|go:"GO:0051894"(positive regulation of focal adhesion assembly)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071277"(cellular response to calcium ion)|go:"GO:0071364"(cellular response to epidermal growth factor stimulus)|go:"GO:0072015"(glomerular visceral epithelial cell development)|go:"GO:1900006"(positive regulation of dendrite development)|go:"GO:1900086"(positive regulation of peptidyl-tyrosine autophosphorylation)|go:"GO:1903829"(positive regulation of protein localization)|go:"GO:1904754"(positive regulation of vascular associated smooth muscle cell migration)|go:"GO:1990138"(neuron projection extension)|go:"GO:1990776"(response to angiotensin)|interpro:IPR000048(IQ calmodulin-binding region)|go:"GO:0030667"(secretory granule membrane)|interpro:IPR000593(RasGAP protein, C-terminal)|interpro:IPR001202(WW/Rsp5/WWP)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR001936(Ras GTPase-activating protein)|interpro:IPR008936(Rho GTPase activation protein)|interpro:IPR023152|interpro:IPR027417|interpro:IPR036872|mint:P46940|rcsb pdb:1X0H|rcsb pdb:2RR8|rcsb pdb:3FAY|rcsb pdb:3I6X|rcsb pdb:5L0O|reactome:R-HSA-373753|reactome:R-HSA-381676|reactome:R-HSA-5626467|reactome:R-HSA-5674135|reactome:R-HSA-6798695|reactome:R-HSA-6802946|reactome:R-HSA-6802948|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-8980692|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013406|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9649948|reactome:R-HSA-9656223|refseq:NP_003861.1|dip:DIP-32597N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:nXO2Z6Qn8EQGfziT8dnWz1pbK/w9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75369 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352089|intact:EBI-1754974|uniprotkb:Q13706|uniprotkb:Q59EC2|uniprotkb:Q6MZJ1|uniprotkb:Q8WXS9|uniprotkb:Q8WXT0|uniprotkb:Q8WXT1|uniprotkb:Q8WXT2|uniprotkb:Q9NRB5|uniprotkb:B2ZZ84|uniprotkb:Q9NT26|uniprotkb:Q9UEV9|intact:EBI-1960054|uniprotkb:C9JKE6|uniprotkb:B2ZZ85|uniprotkb:C9JMC4|ensembl:ENSP00000295956|uniprotkb:B2ZZ83|uniprotkb:Q60FE7|uniprotkb:Q8WXT3 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:flnb_human(display_long)|uniprotkb:FLNB(gene name)|psi-mi:FLNB(display_short)|uniprotkb:FLN1L(gene name synonym)|uniprotkb:FLN3(gene name synonym)|uniprotkb:TABP(gene name synonym)|uniprotkb:TAP(gene name synonym)|uniprotkb:Beta-filamin(gene name synonym)|uniprotkb:Actin-binding-like protein(gene name synonym)|uniprotkb:Thyroid autoantigen(gene name synonym)|uniprotkb:Truncated actin-binding protein(gene name synonym)|uniprotkb:ABP-280 homolog(gene name synonym)|uniprotkb:ABP-278(gene name synonym)|uniprotkb:Filamin-3(gene name synonym)|uniprotkb:Filamin homolog 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001157791.1|refseq:NP_001448.2|go:"GO:0003334"(keratinocyte development)|go:"GO:0003382"(epithelial cell morphogenesis)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005925"(focal adhesion)|go:"GO:0005938"(cell cortex)|go:"GO:0007165"(signal transduction)|go:"GO:0007519"(skeletal muscle tissue development)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030018"(Z disc)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043025"(neuronal cell body)|go:"GO:0045296"(cadherin binding)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0051015"(actin filament binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071346"(cellular response to interferon-gamma)|interpro:IPR001298(Filamin/ABP280 repeat)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR017868|interpro:IPR029874|interpro:IPR036872|interpro:IPR044801|mint:O75369|rcsb pdb:2DI8|rcsb pdb:2DI9|rcsb pdb:2DIA|rcsb pdb:2DIB|rcsb pdb:2DIC|rcsb pdb:2DJ4|rcsb pdb:2DLG|rcsb pdb:2DMB|rcsb pdb:2DMC|rcsb pdb:2E9I|rcsb pdb:2E9J|rcsb pdb:2EE6|rcsb pdb:2EE9|rcsb pdb:2EEA|rcsb pdb:2EEB|rcsb pdb:2EEC|rcsb pdb:2EED|rcsb pdb:2WA5|rcsb pdb:2WA6|rcsb pdb:2WA7|rcsb pdb:3FER|rcsb pdb:4B7L|rcsb pdb:5DCP|reactome:R-HSA-1169408|ensembl:ENSG00000136068(gene)|ensembl:ENST00000295956(transcript)|go:"GO:0001725"(stress fiber)|refseq:NP_001157789.1|refseq:NP_001157790.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:lsf6C/Vg0io7UhUi1Kapgwp0p5E9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92618 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2799490|intact:EBI-28975450|ensembl:ENSP00000394757 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn516_human(display_long)|uniprotkb:KIAA0222(gene name synonym)|uniprotkb:ZNF516(gene name)|psi-mi:ZNF516(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSP00000394757|refseq:XP_011524571.1|refseq:XP_011524572.1|refseq:XP_011524573.1|refseq:XP_011524574.1|refseq:XP_011524575.1|refseq:XP_011524576.1|refseq:XP_011524577.1|refseq:NP_055458.1|ensembl:ENSG00000101493(gene)|ensembl:ENST00000443185(transcript)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0000987"(cis-regulatory region sequence-specific DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0009409"(response to cold)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|go:"GO:0050873"(brown fat cell differentiation)|go:"GO:0060612"(adipose tissue development)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|mint:Q92618|refseq:XP_016881586.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:L9yQp1u4G/AN1L79Bg8odnkiPi89606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q01082 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351561|intact:EBI-1642531|uniprotkb:O60837|uniprotkb:Q16057|uniprotkb:Q53R99|uniprotkb:Q59ER3|uniprotkb:Q8IX99|uniprotkb:B2RP63|ensembl:ENSP00000349259 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sptb2_human(display_long)|uniprotkb:SPTBN1(gene name)|psi-mi:SPTBN1(display_short)|uniprotkb:SPTB2(gene name synonym)|uniprotkb:Spectrin, non-erythroid beta chain 1(gene name synonym)|uniprotkb:Beta-II spectrin(gene name synonym)|uniprotkb:Fodrin beta chain(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003119.2|refseq:NP_842565.2|ensembl:ENSG00000115306(gene)|ensembl:ENST00000356805(transcript)|go:"GO:0000281"(mitotic cytokinesis)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005543"(phospholipid binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007009"(plasma membrane organization)|go:"GO:0007182"(common-partner SMAD protein phosphorylation)|go:"GO:0008091"(spectrin)|go:"GO:0014069"(postsynaptic density)|go:"GO:0014731"(spectrin-associated cytoskeleton)|go:"GO:0030506"(ankyrin binding)|go:"GO:0030673"(axolemma)|go:"GO:0031430"(M band)|go:"GO:0032437"(cuticular plate)|go:"GO:0032743"(positive regulation of interleukin-2 production)|go:"GO:0043001"(Golgi to plasma membrane protein transport)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045296"(cadherin binding)|go:"GO:0051020"(GTPase binding)|go:"GO:0051693"(actin filament capping)|go:"GO:0060390"(regulation of SMAD protein signal transduction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071709"(membrane assembly)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1903076"(regulation of protein localization to plasma membrane)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001605(Spectrin/pleckstrin-like)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR002017(Spectrin repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR016343(Spectrin, beta subunit)|interpro:IPR018159|interpro:IPR036872|interpro:IPR041681|mint:Q01082|rcsb pdb:1AA2|rcsb pdb:1BKR|rcsb pdb:3EDV|reactome:R-HSA-375165|reactome:R-HSA-445095|reactome:R-HSA-5673001|reactome:R-HSA-6807878|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9703465|reactome:R-HSA-373753|refseq:XP_005264574.1|refseq:XP_006712150.1|refseq:XP_016860268.1|refseq:XP_016860269.1|refseq:XP_016860270.1|dip:DIP-33182N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rQJxsoEirg87umLjsEwHcQ0/blQ9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P35579 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350338|uniprotkb:O60805|ensembl:ENSP00000216181|uniprotkb:Q86T83|intact:EBI-1054343|uniprotkb:A8K6E4|uniprotkb:Q60FE2 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:myh9_human(display_long)|uniprotkb:MYH9(gene name)|psi-mi:MYH9(display_short)|uniprotkb:Myosin heavy chain 9(gene name synonym)|uniprotkb:Myosin heavy chain, non-muscle IIa(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain IIa(gene name synonym)|uniprotkb:Cellular myosin heavy chain, type A(gene name synonym)|uniprotkb:Non-muscle myosin heavy chain A(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_002464.1|ensembl:ENSG00000100345(gene)|ensembl:ENST00000216181(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0000212"(meiotic spindle organization)|go:"GO:0001525"(angiogenesis)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0001725"(stress fiber)|go:"GO:0001726"(ruffle)|go:"GO:0001768"(establishment of T cell polarity)|go:"GO:0001772"(immunological synapse)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0001931"(uropod)|go:"GO:0003723"(RNA binding)|go:"GO:0003774"(cytoskeletal motor activity)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005819"(spindle)|go:"GO:0005826"(actomyosin contractile ring)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0006509"(membrane protein ectodomain proteolysis)|go:"GO:0006911"(phagocytosis, engulfment)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0007520"(myoblast fusion)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0009898"(cytoplasmic side of plasma membrane)|go:"GO:0015031"(protein transport)|refseq:XP_011528499.1|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016460"(myosin II complex)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030220"(platelet formation)|go:"GO:0030224"(monocyte differentiation)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0031252"(cell leading edge)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0032154"(cleavage furrow)|go:"GO:0032418"(lysosome localization)|go:"GO:0032506"(cytokinetic process)|go:"GO:0032796"(uropod organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042641"(actomyosin)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043495"(protein-membrane adaptor activity)|go:"GO:0043531"(ADP binding)|go:"GO:0043534"(blood vessel endothelial cell migration)|go:"GO:0045055"(regulated exocytosis)|go:"GO:0045296"(cadherin binding)|go:"GO:0050900"(leukocyte migration)|go:"GO:0051015"(actin filament binding)|go:"GO:0051295"(establishment of meiotic spindle localization)|go:"GO:0060471"(cortical granule exocytosis)|go:"GO:0060473"(cortical granule)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0097513"(myosin II filament)|go:"GO:1903919"(negative regulation of actin filament severing)|rcsb pdb:4CFR|rcsb pdb:4ETO|reactome:R-HSA-1445148|reactome:R-HSA-2029482|reactome:R-HSA-3928663|reactome:R-HSA-416572|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9662834|reactome:R-HSA-9664422|go:"GO:1903923"(positive regulation of protein processing in phagocytic vesicle)|go:"GO:1905684"(regulation of plasma membrane repair)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002928(Myosin tail)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR008989(Myosin S1 fragment, N-terminal)|interpro:IPR027417|interpro:IPR036305|interpro:IPR036961|mint:P35579|rcsb pdb:2LNK|rcsb pdb:3ZWH|rcsb pdb:4CFQ|refseq:XP_016884292.1|refseq:XP_016884293.1|refseq:XP_016884294.1|refseq:XP_016884295.1|dip:DIP-33103N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:fSOtpFpr8PSnAG5UdAr/khwkzJs9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96MY1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6660790|ensembl:ENSP00000352704|uniprotkb:Q9NQF6|uniprotkb:Q9BR34|uniprotkb:Q6P0Y4|uniprotkb:Q5JYB7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:nol4l_human(display_long)|uniprotkb:NOL4L(gene name)|psi-mi:NOL4L(display_short)|uniprotkb:C20orf112(gene name synonym)|uniprotkb:C20orf113(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:XP_016883158.1|ensembl:ENSG00000197183(gene)|ensembl:ENST00000359676(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|interpro:IPR026746|interpro:IPR039788|refseq:NP_001243727.1|refseq:NP_542183.2|refseq:XP_005260345.1|refseq:XP_005260346.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:r1tkeJjKBiM9H7BO/1RzYKi5fvA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O95425 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-487145|uniprotkb:O60611|uniprotkb:O60612|uniprotkb:Q5VZK5|uniprotkb:Q5VZK6|uniprotkb:Q9H1R7|uniprotkb:D3DRW9|ensembl:ENSP00000348128|uniprotkb:M1J557 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:svil_human(display_long)|uniprotkb:Archvillin(gene name synonym)|uniprotkb:p205/p250(gene name synonym)|uniprotkb:SVIL(gene name)|psi-mi:SVIL(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0007519"(skeletal muscle tissue development)|refseq:NP_003165.2|refseq:NP_068506.2|ensembl:ENSG00000197321(gene)|ensembl:ENST00000355867(transcript)|go:"GO:0002102"(podosome)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|interpro:IPR007123(Gelsolin region)|interpro:IPR015628(Supervillin)|interpro:IPR029006|interpro:IPR036886|mint:O95425|rcsb pdb:2K6M|rcsb pdb:2K6N|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030496"(midbody)|go:"GO:0032154"(cleavage furrow)|go:"GO:0032467"(positive regulation of cytokinesis)|go:"GO:0036449"(microtubule minus-end)|go:"GO:0042995"(cell projection)|go:"GO:0043034"(costamere)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|interpro:IPR003128(Villin headpiece)|interpro:IPR007122(Gelsolin) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:5FaBAFdOX+nPJzTwEdBt8e5Keng9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9UHB6 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351479|uniprotkb:Q2TAN7|uniprotkb:Q9BVF2|uniprotkb:Q9H8J1|uniprotkb:Q9HBN5|uniprotkb:Q9NX96|uniprotkb:Q9NXC3|uniprotkb:Q9NXU6|uniprotkb:Q9P0H8|uniprotkb:Q9UHB5|uniprotkb:B2RB09|ensembl:ENSP00000340184|uniprotkb:Q59FE8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:lima1_human(display_long)|uniprotkb:PP624(orf name)|uniprotkb:LIMA1(gene name)|psi-mi:LIMA1(display_short)|uniprotkb:SREBP3(gene name synonym)|uniprotkb:Epithelial protein lost in neoplasm(gene name synonym)|uniprotkb:EPLIN(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001107018.1|refseq:NP_001107019.1|refseq:NP_057441.1|refseq:XP_011536757.1|ensembl:ENSG00000050405(gene)|ensembl:ENST00000341247(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0001726"(ruffle)|go:"GO:0003785"(actin monomer binding)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016477"(cell migration)|go:"GO:0030299"(intestinal cholesterol absorption)|go:"GO:0030835"(negative regulation of actin filament depolymerization)|go:"GO:0031526"(brush border membrane)|go:"GO:0031529"(ruffle organization)|go:"GO:0032154"(cleavage furrow)|go:"GO:0042632"(cholesterol homeostasis)|go:"GO:0045296"(cadherin binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0051015"(actin filament binding)|go:"GO:0051017"(actin filament bundle assembly)|interpro:IPR001781(Zinc finger, LIM-type)|interpro:IPR028740|mint:Q9UHB6|rcsb pdb:2D8Y|refseq:NP_001230704.1|refseq:XP_016874919.1|dip:DIP-29633N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:sHqhe21LVzLJXgDMH6IcWukKNHE9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O75362 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6597704|ensembl:ENSP00000304308|ensembl:ENSP00000360526|uniprotkb:E1P5Y6|uniprotkb:Q14DB8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn217_human(display_long)|uniprotkb:ZNF217(gene name)|psi-mi:ZNF217(display_short)|uniprotkb:ZABC1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000171940(gene)|ensembl:ENST00000302342(transcript)|ensembl:ENST00000371471(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000976"(transcription cis-regulatory region binding)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0016607"(nuclear speck)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|rcsb pdb:2HU2|rcsb pdb:3UK3|rcsb pdb:4F2J|rcsb pdb:4IS1|reactome:R-HSA-9018519|refseq:NP_006517.1|refseq:XP_016883548.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:E65TwYRj7QeQtQbTWV8q91QlwQk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14974 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351726|uniprotkb:Q2NKL4|uniprotkb:Q569H0|uniprotkb:Q86WU3|uniprotkb:Q8NFR6|uniprotkb:Q9BYH0|intact:EBI-28988491|uniprotkb:B4DZ09|uniprotkb:F8VWB4|ensembl:ENSP00000261207|ensembl:ENSP00000389168 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mypt1_human(display_long)|uniprotkb:PPP1R12A(gene name)|psi-mi:PPP1R12A(display_short)|uniprotkb:MBS(gene name synonym)|uniprotkb:MYPT1(gene name synonym)|uniprotkb:Myosin phosphatase-targeting subunit 1(gene name synonym)|uniprotkb:Protein phosphatase myosin-binding subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001137357.1|refseq:NP_001137358.1|refseq:NP_002471.1|refseq:NP_001231919.1|refseq:NP_001231921.1|refseq:XP_011536685.1|ensembl:ENSP00000261207|ensembl:ENST00000437004|ensembl:ENSP00000416769|ensembl:ENSP00000389168|ensembl:ENSP00000449514|ensembl:ENST00000550107|ensembl:ENSP00000446855|ensembl:ENST00000546369|dip:DIP-33186N|ensembl:ENSG00000058272(gene)|ensembl:ENST00000261207(transcript)|ensembl:ENST00000450142(transcript)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0000776"(kinetochore)|go:"GO:0004857"(enzyme inhibitor activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007098"(centrosome cycle)|go:"GO:0007165"(signal transduction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0019208"(phosphatase regulator activity)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030018"(Z disc)|go:"GO:0030155"(regulation of cell adhesion)|go:"GO:0031672"(A band)|go:"GO:0035507"(regulation of myosin-light-chain-phosphatase activity)|go:"GO:0035508"(positive regulation of myosin-light-chain-phosphatase activity)|go:"GO:0035690"|go:"GO:0043086"(negative regulation of catalytic activity)|go:"GO:0043292"(contractile fiber)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046822"(regulation of nucleocytoplasmic transport)|go:"GO:0071889"(14-3-3 protein binding)|go:"GO:0072357"(PTW/PP1 phosphatase complex)|interpro:IPR002110(Ankyrin)|interpro:IPR017401(Protein phosphatase 1, regulatory subunits 12A/B/C, eukaryote)|interpro:IPR020683|interpro:IPR031775|interpro:IPR036770|mint:O14974|rcsb pdb:2KJY|rcsb pdb:5HUZ|reactome:R-HSA-2565942|reactome:R-HSA-5625740|reactome:R-HSA-5625900|reactome:R-HSA-5627117|reactome:R-HSA-5627123 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Xi5lGskc0tWQCHtbYlgR45ERMSk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P11021 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-354921|ensembl:ENSP00000324173|uniprotkb:Q2EF78|uniprotkb:Q9NPF1|uniprotkb:Q9UK02|uniprotkb:B0QZ61 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:bip_human(display_long)|uniprotkb:HSPA5(gene name)|psi-mi:HSPA5(display_short)|uniprotkb:GRP78(gene name synonym)|uniprotkb:Immunoglobulin heavy chain-binding protein(gene name synonym)|uniprotkb:78 kDa glucose-regulated protein(gene name synonym)|uniprotkb:Binding-immunoglobulin protein(gene name synonym)|uniprotkb:Heat shock protein 70 family protein 5(gene name synonym)|uniprotkb:Heat shock protein family A member 5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000044574(gene)|ensembl:ENST00000324460(transcript)|go:"GO:0001554"(luteolysis)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006983"(ER overload response)|refseq:NP_005338.1|go:"GO:0009986"(cell surface)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0016020"(membrane)|go:"GO:0016887"(ATP hydrolysis activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0021589"(cerebellum structural organization)|go:"GO:0021680"(cerebellar Purkinje cell layer development)|go:"GO:0021762"(substantia nigra development)|go:"GO:0030176"(integral component of endoplasmic reticulum membrane)|go:"GO:0030182"(neuron differentiation)|go:"GO:0030433"(ubiquitin-dependent ERAD pathway)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030496"(midbody)|go:"GO:0030512"(negative regulation of transforming growth factor beta receptor signaling pathway)|go:"GO:0030968"(endoplasmic reticulum unfolded protein response)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0031204"(posttranslational protein targeting to membrane, translocation)|go:"GO:0031333"(negative regulation of protein-containing complex assembly)|go:"GO:0031398"(positive regulation of protein ubiquitination)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034620"(cellular response to unfolded protein)|go:"GO:0034663"(endoplasmic reticulum chaperone complex)|go:"GO:0034975"(protein folding in endoplasmic reticulum)|go:"GO:0035437"(maintenance of protein localization in endoplasmic reticulum)|go:"GO:0035690"|go:"GO:0042026"(protein refolding)|go:"GO:0042149"(cellular response to glucose starvation)|go:"GO:0042220"(response to cocaine)|go:"GO:0042470"(melanosome)|go:"GO:0043022"(ribosome binding)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0045296"(cadherin binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051085"(chaperone cofactor-dependent protein refolding)|go:"GO:0051087"(chaperone binding)|go:"GO:0051402"(neuron apoptotic process)|go:"GO:0051787"(misfolded protein binding)|go:"GO:0060904"(regulation of protein folding in endoplasmic reticulum)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071236"(cellular response to antibiotic)|go:"GO:0071277"(cellular response to calcium ion)|go:"GO:0071287"(cellular response to manganese ion)|go:"GO:0071320"(cellular response to cAMP)|go:"GO:0071353"(cellular response to interleukin-4)|go:"GO:0071480"(cellular response to gamma radiation)|go:"GO:0097501"(stress response to metal ion)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1901998"(toxin transport)|go:"GO:1903891"(regulation of ATF6-mediated unfolded protein response)|go:"GO:1903894"(regulation of IRE1-mediated unfolded protein response)|go:"GO:1903895"(negative regulation of IRE1-mediated unfolded protein response)|go:"GO:1903897"(regulation of PERK-mediated unfolded protein response)|go:"GO:1904313"(response to methamphetamine hydrochloride)|go:"GO:1990090"(cellular response to nerve growth factor stimulus)|go:"GO:1990440"(positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress)|interpro:IPR013126(Heat shock protein 70)|interpro:IPR018181|interpro:IPR029047|interpro:IPR029048|interpro:IPR042050|interpro:IPR043129|mint:P11021|rcsb pdb:3IUC|rcsb pdb:3LDL|rcsb pdb:3LDN|rcsb pdb:3LDO|rcsb pdb:3LDP|rcsb pdb:5E84|rcsb pdb:5E85|rcsb pdb:5E86|rcsb pdb:5EVZ|rcsb pdb:5EX5|rcsb pdb:5EXW|rcsb pdb:5EY4|rcsb pdb:5F0X|rcsb pdb:5F1X|rcsb pdb:5F2R|rcsb pdb:6ASY|rcsb pdb:6CZ1|rcsb pdb:6DFM|rcsb pdb:6DFO|rcsb pdb:6DO2|rcsb pdb:6DWS|rcsb pdb:6ZMD|reactome:R-HSA-114608|reactome:R-HSA-3371453|reactome:R-HSA-381033|reactome:R-HSA-381042|reactome:R-HSA-381070|reactome:R-HSA-381183|reactome:R-HSA-983170|dip:DIP-33189N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:O8nTjCciNhD3QsbZmbolQ1IIMn49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O14744 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351098|uniprotkb:Q6IBR1|uniprotkb:A8MZ91|uniprotkb:Q9UKH1|uniprotkb:B5BU10|uniprotkb:D3DS33|ensembl:ENSP00000319169|uniprotkb:A8MTP3|uniprotkb:B4DX49|uniprotkb:B4DY30|uniprotkb:E2QRE7 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:anm5_human(display_long)|uniprotkb:PRMT5(gene name)|psi-mi:PRMT5(display_short)|uniprotkb:IBP72(gene name synonym)|uniprotkb:JBP1(gene name synonym)|uniprotkb:HRMT1L5(gene name synonym)|uniprotkb:Shk1 kinase-binding protein 1 homolog(gene name synonym)|uniprotkb:Jak-binding protein 1(gene name synonym)|uniprotkb:72 kDa ICln-binding protein(gene name synonym)|uniprotkb:SKB1(gene name synonym)|uniprotkb:Histone-arginine N-methyltransferase PRMT5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001034708.1|refseq:NP_006100.2|refseq:NP_001269882.1|refseq:NP_001269884.1|refseq:NP_001269885.1|ensembl:ENSG00000100462(gene)|ensembl:ENST00000324366(transcript)|go:"GO:0000387"(spliceosomal snRNP assembly)|go:"GO:0000785"(chromatin)|go:"GO:0002039"(p53 binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006353"(DNA-templated transcription, termination)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0007088"(regulation of mitotic nuclear division)|go:"GO:0008168"(methyltransferase activity)|go:"GO:0008327"(methyl-CpG binding)|go:"GO:0008469"(histone-arginine N-methyltransferase activity)|go:"GO:0016274"(protein-arginine N-methyltransferase activity)|go:"GO:0018216"(peptidyl-arginine methylation)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0034709"(methylosome)|go:"GO:0034969"(histone arginine methylation)|go:"GO:0035097"(histone methyltransferase complex)|go:"GO:0035243"(protein-arginine omega-N symmetric methyltransferase activity)|go:"GO:0035246"(peptidyl-arginine N-methylation)|go:"GO:0042118"(endothelial cell activation)|go:"GO:0042802"(identical protein binding)|go:"GO:0043021"(ribonucleoprotein complex binding)|go:"GO:0043985"(histone H4-R3 methylation)|go:"GO:0044020"("histone methyltransferase activity (H4-R3 specific)")|go:"GO:0044030"(regulation of DNA methylation)|go:"GO:0045596"(negative regulation of cell differentiation)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|go:"GO:0070372"(regulation of ERK1 and ERK2 cascade)|go:"GO:0070888"(E-box binding)|go:"GO:0090161"(Golgi ribbon formation)|go:"GO:0097421"(liver regeneration)|go:"GO:1901796"(regulation of signal transduction by p53 class mediator)|interpro:IPR007857(Skb1 methyltransferase)|interpro:IPR025799|interpro:IPR029063|interpro:IPR035075|interpro:IPR035247|interpro:IPR035248|mint:O14744|rcsb pdb:4GQB|rcsb pdb:4X60|rcsb pdb:4X61|rcsb pdb:4X63|rcsb pdb:5C9Z|rcsb pdb:5EMJ|rcsb pdb:5EMK|rcsb pdb:5EML|rcsb pdb:5EMM|rcsb pdb:5FA5|rcsb pdb:6CKC|rcsb pdb:6K1S|rcsb pdb:6RLL|rcsb pdb:6RLQ|rcsb pdb:6UGH|rcsb pdb:6UXX|rcsb pdb:6UXY|rcsb pdb:6V0N|rcsb pdb:6V0O|rcsb pdb:6V0P|rcsb pdb:7KIB|rcsb pdb:7KIC|rcsb pdb:7KID|rcsb pdb:7L1G|rcsb pdb:7M05|reactome:R-HSA-191859|reactome:R-HSA-3214858|reactome:R-HSA-6804760|go:"GO:1904992"(positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway)|dip:DIP-33172N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:EwePjCDiU/fiuKOO+wnoYQ8I57I9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P98175 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-721525|uniprotkb:Q14136|uniprotkb:C4AM81|uniprotkb:Q9BTE4|intact:EBI-1642096|intact:EBI-739959|uniprotkb:Q5JRR2|uniprotkb:Q9BTX0|uniprotkb:Q9NTB1|uniprotkb:A0A0A0MR66|ensembl:ENSP00000366829 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rbm10_human(display_long)|uniprotkb:RNA-binding motif protein 10(gene name synonym)|uniprotkb:G patch domain-containing protein 9(gene name synonym)|uniprotkb:RBM10(gene name)|psi-mi:RBM10(display_short)|uniprotkb:KIAA0122(gene name synonym)|uniprotkb:DXS8237E(gene name synonym)|uniprotkb:GPATC9(gene name synonym)|uniprotkb:GPATCH9(gene name synonym)|uniprotkb:RNA-binding protein S1-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001191395.1|refseq:NP_001191396.1|refseq:NP_005667.2|refseq:NP_690595.1|refseq:NP_001191397.1|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR033095|interpro:IPR034992|interpro:IPR035618|interpro:IPR035979|interpro:IPR036443|interpro:IPR041591|mint:P98175|rcsb pdb:2LXI|rcsb pdb:2M2B|rcsb pdb:2MXV|rcsb pdb:2MXW|rcsb pdb:5ZSW|rcsb pdb:5ZSY|ensembl:ENSG00000182872(gene)|ensembl:ENST00000377604(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016607"(nuclear speck)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034393"(positive regulation of smooth muscle cell apoptotic process)|go:"GO:0035198"(miRNA binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0048025"(negative regulation of mRNA splicing, via spliceosome)|go:"GO:0070935"(3'-UTR-mediated mRNA stabilization)|interpro:IPR000467(D111/G-patch)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR001876(Zinc finger, RanBP2-type)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait) intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:LOhPGCjbvCh2MDG5JRHlrMrElW49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13813 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351450|uniprotkb:Q13186|uniprotkb:Q15324|uniprotkb:Q16606|uniprotkb:Q59EF1|uniprotkb:Q5VXV5|uniprotkb:Q5VXV6|uniprotkb:Q7Z6M5|uniprotkb:Q9P0V0|intact:EBI-4404719|intact:EBI-28985930|ensembl:ENSP00000361816 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:sptn1_human(display_long)|uniprotkb:SPTAN1(gene name)|psi-mi:SPTAN1(display_short)|uniprotkb:SPTA2(gene name synonym)|uniprotkb:Alpha-II spectrin(gene name synonym)|uniprotkb:Fodrin alpha chain(gene name synonym)|uniprotkb:NEAS(gene name synonym)|uniprotkb:Spectrin, non-erythroid alpha subunit(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001123910.1|refseq:NP_001182461.1|refseq:NP_003118.2|ensembl:ENSG00000197694(gene)|ensembl:ENST00000372731(transcript)|go:"GO:0003779"(actin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005829"(cytosol)|go:"GO:0008091"(spectrin)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0035580"(specific granule lumen)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045296"(cadherin binding)|go:"GO:0051693"(actin filament capping)|go:"GO:0070062"(extracellular exosome)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1904724"(tertiary granule lumen)|interpro:IPR001452(Src homology-3)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR014837(EF-hand, Ca insensitive)|interpro:IPR018159|interpro:IPR018247|interpro:IPR035825|interpro:IPR036028|mint:Q13813|rcsb pdb:2FOT|rcsb pdb:3F31|rcsb pdb:3FB2|rcsb pdb:5FW9|rcsb pdb:5FWB|rcsb pdb:5FWC|rcsb pdb:6ZEH|reactome:R-HSA-264870|reactome:R-HSA-373753|reactome:R-HSA-375165|reactome:R-HSA-445095|reactome:R-HSA-5673001|reactome:R-HSA-6798695|reactome:R-HSA-6807878|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9662360|reactome:R-HSA-9662361|ensembl:ENST00000358161|ensembl:ENSP00000350882|ensembl:ENSP00000361816|ensembl:ENST00000372739|ensembl:ENSP00000361824|dip:DIP-33141N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:3d5XlsH+PSg32qNR/ZiooAJ/wH89606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q5M775 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350473|uniprotkb:Q5IBP1|uniprotkb:Q5IBP2|uniprotkb:Q5IBP3|uniprotkb:Q5IBP4|uniprotkb:Q5M772|uniprotkb:Q5M773|uniprotkb:Q5M774|uniprotkb:Q86XT8|uniprotkb:Q8N4U4|uniprotkb:Q8WU84|uniprotkb:Q9HCQ3|uniprotkb:B4DHH0|ensembl:ENSP00000261503|ensembl:ENSP00000378898|ensembl:ENSP00000502924|ensembl:ENSP00000503971|ensembl:ENSP00000504211|uniprotkb:B7WNS8|intact:EBI-2556892 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:cytsb_human(display_long)|uniprotkb:Nuclear structure protein 5(gene name synonym)|uniprotkb:Sperm antigen HCMOGT-1(gene name synonym)|uniprotkb:SPECC1(gene name)|psi-mi:SPECC1(display_short)|uniprotkb:CYTSB(gene name synonym)|uniprotkb:Sperm antigen with calponin homology and coiled-coil domains 1(gene name synonym)|uniprotkb:NSP5(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001028725.1|refseq:NP_001028726.1|refseq:NP_001028727.1|refseq:NP_001230367.1|refseq:NP_001230368.1|refseq:NP_690868.3|ensembl:ENSG00000128487(gene)|ensembl:ENST00000261503(transcript)|ensembl:ENST00000395527(transcript)|ensembl:ENST00000677914(transcript)|ensembl:ENST00000679058(transcript)|ensembl:ENST00000679255(transcript)|go:"GO:0001650"(fibrillar center)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0016020"(membrane)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0031941"(filamentous actin)|go:"GO:0043231"(intracellular membrane-bounded organelle)|interpro:IPR036872|mint:Q5M775|interpro:IPR001715(Calponin-like actin-binding)|refseq:XP_016880814.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:iF+19RpfJDyn5whTFnPmDxxECz09606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BQI0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-358576|uniprotkb:Q6ZR40|uniprotkb:Q8NAX7|uniprotkb:Q8WU47|uniprotkb:Q9H9G0|uniprotkb:B2RBC4|ensembl:ENSP00000247291 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:aif1l_human(display_long)|uniprotkb:UNQ672/PRO1306(orf name)|uniprotkb:AIF1L(gene name)|psi-mi:AIF1L(display_short)|uniprotkb:C9orf58(gene name synonym)|uniprotkb:IBA2(gene name synonym)|uniprotkb:Ionized calcium-binding adapter molecule 2(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001172024.1|refseq:NP_001172025.1|refseq:NP_113614.1|ensembl:ENSG00000126878(gene)|ensembl:ENST00000247291(transcript)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005925"(focal adhesion)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0032587"(ruffle membrane)|go:"GO:0032991"(protein-containing complex)|go:"GO:0051015"(actin filament binding)|go:"GO:0051017"(actin filament bundle assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097178"(ruffle assembly)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR028453|interpro:IPR042433|rcsb pdb:2JJZ|rcsb pdb:2VTG intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:/FPBcx3gPhY4kmNrngZfmmN2D0A9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q9BQA1 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-1237307|uniprotkb:B3KMW6|uniprotkb:Q96GK4|uniprotkb:Q9BWY3|uniprotkb:Q3LID2|uniprotkb:Q53FU2|uniprotkb:Q6JZZ5|uniprotkb:B4DP38|ensembl:ENSP00000235090 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mep50_human(display_long)|uniprotkb:WDR77(gene name)|psi-mi:WDR77(display_short)|uniprotkb:MEP50(gene name synonym)|uniprotkb:WD repeat-containing protein 77(gene name synonym)|uniprotkb:Androgen receptor cofactor p44(gene name synonym)|uniprotkb:p44/Mep50(gene name synonym)|uniprotkb:HKMT1069(orf name)|uniprotkb:Nbla10071(orf name)|uniprotkb:WD45(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_077007.1|refseq:NP_001303991.1|refseq:NP_001303992.1|refseq:NP_001303993.1|dip:DIP-38172N|ensembl:ENSG00000116455(gene)|ensembl:ENST00000235090(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007315"(pole plasm assembly)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008327"(methyl-CpG binding)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0034709"(methylosome)|go:"GO:0045495"(pole plasm)|go:"GO:0060528"(secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development)|go:"GO:0060770"(negative regulation of epithelial cell proliferation involved in prostate gland development)|interpro:IPR001680(WD40 repeat)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR036322|mint:Q9BQA1|rcsb pdb:4GQB|rcsb pdb:4X60|rcsb pdb:4X61|rcsb pdb:4X63|rcsb pdb:5C9Z|rcsb pdb:5EMJ|rcsb pdb:5EMK|rcsb pdb:5EML|rcsb pdb:5EMM|rcsb pdb:5FA5|rcsb pdb:6CKC|rcsb pdb:6K1S|rcsb pdb:6RLL|rcsb pdb:6RLQ|rcsb pdb:6UGH|rcsb pdb:6UXX|rcsb pdb:6UXY|rcsb pdb:6V0N|rcsb pdb:6V0O|rcsb pdb:6V0P|rcsb pdb:7KIB|rcsb pdb:7KIC|rcsb pdb:7KID|rcsb pdb:7L1G|rcsb pdb:7M05|reactome:R-HSA-191859|reactome:R-HSA-3214858 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:0q4wunYtHalObC8r1wphhelIpr49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q92614 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-949059|ensembl:ENSP00000437073|uniprotkb:Q5H9U3|uniprotkb:Q5W9F9|uniprotkb:Q5W9G1|uniprotkb:Q8IXP8|uniprotkb:Q5QD01 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:my18a_human(display_long)|uniprotkb:Myosin containing a PDZ domain(gene name synonym)|uniprotkb:Molecule associated with JAK3 N-terminus(gene name synonym)|uniprotkb:MYO18A(gene name)|psi-mi:MYO18A(display_short)|uniprotkb:KIAA0216(gene name synonym)|uniprotkb:MYSPDZ(gene name synonym)|uniprotkb:CD245(gene name synonym)|uniprotkb:Surfactant protein receptor SP-R210(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 dip:DIP-46631N|ensembl:ENSG00000196535(gene)|ensembl:ENST00000527372(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0006259"(DNA metabolic process)|go:"GO:0007030"(Golgi organization)|go:"GO:0008094"(ATP-dependent activity, acting on DNA)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0016459"(myosin complex)|go:"GO:0016477"(cell migration)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0042641"(actomyosin)|go:"GO:0043030"(regulation of macrophage activation)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043531"(ADP binding)|go:"GO:0048194"(Golgi vesicle budding)|go:"GO:0050714"(positive regulation of protein secretion)|go:"GO:0051015"(actin filament binding)|go:"GO:0090161"(Golgi ribbon formation)|go:"GO:0090164"(asymmetric Golgi ribbon formation)|go:"GO:1903028"(positive regulation of opsonization)|interpro:IPR000048(IQ calmodulin-binding region)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR001609(Myosin head, motor region)|interpro:IPR002928(Myosin tail)|interpro:IPR004009(Myosin, N-terminal, SH3-like)|interpro:IPR020587|interpro:IPR027417|interpro:IPR031244|interpro:IPR036034|interpro:IPR036064|interpro:IPR036961|interpro:IPR041489|reactome:R-HSA-1839117|reactome:R-HSA-5655302|reactome:R-HSA-9703465|refseq:NP_510880.2|refseq:NP_976063.1|refseq:NP_001333696.1|refseq:NP_001333697.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:IunEYt79RO62wU6VU2gv16Xb7Lk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P56545 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-741533|uniprotkb:O43449|uniprotkb:Q5SQP7|uniprotkb:Q69YI3|uniprotkb:Q86SV0|uniprotkb:Q9H2T8|uniprotkb:A8K2X5|ensembl:ENSP00000338615|ensembl:ENSP00000410474|ensembl:ENSP00000434630|ensembl:ENSP00000436285|uniprotkb:D3DRF5|uniprotkb:Q8IY44|intact:EBI-11742664 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ctbp2_human(display_long)|uniprotkb:CTBP2(gene name)|psi-mi:CTBP2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001077383.1|refseq:NP_001320.1|refseq:NP_073713.2|refseq:NP_001307943.1|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098882"(structural constituent of presynaptic active zone)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0099523"(presynaptic cytosol)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:P56545|rcsb pdb:2OME|rcsb pdb:4LCJ|rcsb pdb:6WKW|reactome:R-HSA-4641265|reactome:R-HSA-5339700|reactome:R-HSA-9662360|go:"GO:0048386"(positive regulation of retinoic acid receptor signaling pathway)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0098684"(photoreceptor ribbon synapse)|ensembl:ENSG00000175029(gene)|ensembl:ENST00000337195(transcript)|ensembl:ENST00000411419(transcript)|ensembl:ENST00000494626(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|ensembl:ENST00000531469(transcript)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016081"(synaptic vesicle docking)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019901"(protein kinase binding)|go:"GO:0035563"(positive regulation of chromatin binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0042974"(retinoic acid receptor binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|refseq:XP_011537653.1|refseq:XP_011537655.1|refseq:XP_011537656.1|refseq:XP_011537657.1|refseq:NP_001307941.1|refseq:NP_001307942.1|refseq:XP_005269618.1|refseq:XP_005269621.1|refseq:XP_005269624.1|refseq:XP_005269625.1|refseq:XP_005269626.1|refseq:XP_005269628.1|refseq:XP_005269629.1|refseq:NP_001277143.1|refseq:NP_001277144.1|refseq:XP_006717705.1|refseq:XP_016871245.1|refseq:XP_016871246.1|dip:DIP-42104N|refseq:XP_011537651.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6sKiqjMRW/ViEvTbQJoaUjgvZtc9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:F5H5D3 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-16421287|ensembl:ENSP00000443475 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:f5h5d3_human(display_long)|uniprotkb:TUBA1C(gene name)|psi-mi:TUBA1C(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000167553(gene)|ensembl:ENST00000541364(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0015630"(microtubule cytoskeleton)|interpro:IPR000217(Tubulin)|interpro:IPR002452(Alpha tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|refseq:NP_001290043.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:BPFi0oTuMH5kqvYU8ASeyTdB+y89606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15208 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-458376|ensembl:ENSP00000229812|uniprotkb:Q503A1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:stk38_human(display_long)|uniprotkb:NDR1(gene name synonym)|uniprotkb:STK38(gene name)|psi-mi:STK38(display_short)|uniprotkb:NDR1 protein kinase(gene name synonym)|uniprotkb:Nuclear Dbf2-related kinase 1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000112079(gene)|ensembl:ENST00000229812(transcript)|go:"GO:0000287"(magnesium ion binding)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006464"(cellular protein modification process)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0018105"(peptidyl-serine phosphorylation)|go:"GO:0031435"(mitogen-activated protein kinase kinase kinase binding)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045296"(cadherin binding)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|interpro:IPR000719(Protein kinase, core)|interpro:IPR000961(Protein kinase, C-terminal)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR017892|mint:Q15208|rcsb pdb:1PSB|rcsb pdb:6BXI|reactome:R-HSA-9013418|reactome:R-HSA-9013422|refseq:NP_009202.1|refseq:XP_006715051.1|refseq:XP_006715052.1|refseq:NP_001292031.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:YHzdDrPEH6YdhOXtcnLWArqftck9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P68032 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-352273|uniprotkb:P04270|ensembl:ENSP00000290378 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actc_human(display_long)|uniprotkb:ACTC1(gene name)|psi-mi:ACTC1(display_short)|uniprotkb:ACTC(gene name synonym)|uniprotkb:Alpha-cardiac actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005150.1|ensembl:ENSG00000159251(gene)|ensembl:ENST00000290378(transcript)|go:"GO:0000146"(microfilament motor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005869"(dynactin complex)|go:"GO:0005884"(actin filament)|go:"GO:0005925"(focal adhesion)|go:"GO:0007015"(actin filament organization)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0017022"(myosin binding)|go:"GO:0030017"(sarcomere)|go:"GO:0030027"(lamellipodium)|go:"GO:0030048"(actin filament-based movement)|go:"GO:0030175"(filopodium)|go:"GO:0030240"(skeletal muscle thin filament assembly)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0031674"(I band)|go:"GO:0033275"(actin-myosin filament sliding)|go:"GO:0042493"|go:"GO:0044297"(cell body)|go:"GO:0045471"(response to ethanol)|go:"GO:0055003"(cardiac myofibril assembly)|go:"GO:0055008"(cardiac muscle tissue morphogenesis)|go:"GO:0060047"(heart contraction)|go:"GO:0060048"(cardiac muscle contraction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:0090131"(mesenchyme migration)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:P68032|reactome:R-HSA-390522|reactome:R-HSA-8980692|reactome:R-HSA-9013026 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:U/lKYqWUWMSC3fBHFaAcgzfk+3w9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P07437 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350864|uniprotkb:P05218|uniprotkb:Q8WUC1|uniprotkb:Q9CY33|ensembl:ENSP00000339001|ensembl:ENSP00000373058|ensembl:ENSP00000399155|ensembl:ENSP00000400663|ensembl:ENSP00000401317|ensembl:ENSP00000406811|ensembl:ENSP00000410071|ensembl:ENSP00000410829 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:tbb5_human(display_long)|uniprotkb:TUBB(gene name)|psi-mi:TUBB(display_short)|uniprotkb:Tubulin beta-5 chain(gene name synonym)|uniprotkb:TUBB5(gene name synonym)|uniprotkb:OK/SW-cl.56(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_821133.1|refseq:NP_001280141.1|refseq:NP_001280142.1|refseq:NP_001280143.1|refseq:NP_001280144.1|refseq:NP_001280145.1|ensembl:ENSG00000183311(gene)|ensembl:ENSG00000196230(gene)|ensembl:ENSG00000224156(gene)|ensembl:ENSG00000227739(gene)|ensembl:ENSG00000229684(gene)|ensembl:ENSG00000232421(gene)|ensembl:ENSG00000232575(gene)|ensembl:ENSG00000235067(gene)|ensembl:ENST00000327892(transcript)|ensembl:ENST00000383564(transcript)|ensembl:ENST00000419792(transcript)|ensembl:ENST00000421473(transcript)|ensembl:ENST00000422650(transcript)|ensembl:ENST00000422674(transcript)|ensembl:ENST00000432462(transcript)|ensembl:ENST00000436628(transcript)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005641"(nuclear envelope lumen)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005874"(microtubule)|go:"GO:0007017"(microtubule-based process)|go:"GO:0009987"(cellular process)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030705"(cytoskeleton-dependent intracellular transport)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032794"(GTPase activating protein binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042267"(natural killer cell mediated cytotoxicity)|go:"GO:0042288"(MHC class I protein binding)|go:"GO:0044297"(cell body)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045121"(membrane raft)|go:"GO:0051225"(spindle assembly)|go:"GO:0051301"(cell division)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000217(Tubulin)|interpro:IPR002453(Beta tubulin)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR013838(Beta tubulin, autoregulation binding site)|interpro:IPR017975|interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P07437|rcsb pdb:3QNZ|rcsb pdb:3QO0|rcsb pdb:5N5N|rcsb pdb:6I2I|rcsb pdb:6QUS|rcsb pdb:6QUY|rcsb pdb:6QVE|rcsb pdb:6QVJ|reactome:R-HSA-2565942|go:"GO:0050807"(regulation of synapse organization)|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-5620912|reactome:R-HSA-6798695|reactome:R-HSA-8854518|reactome:R-HSA-9679191|reactome:R-HSA-380320|dip:DIP-32772N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B6pmb1dvCroZXGd/1Zazi+s72GA9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P06396 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351506|uniprotkb:Q8WVV7|ensembl:ENSP00000362924|uniprotkb:Q5T0I2|uniprotkb:A8MUD1|uniprotkb:B7Z373|uniprotkb:A2A418|uniprotkb:A8MYN7|uniprotkb:B7Z5V1|uniprotkb:F5H1A8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gels_human(display_long)|uniprotkb:GSN(gene name)|psi-mi:GSN(display_short)|uniprotkb:Actin-depolymerizing factor(gene name synonym)|uniprotkb:Brevin(gene name synonym)|uniprotkb:AGEL(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_000168.1|refseq:NP_001121134.1|refseq:NP_001121136.1|refseq:NP_001121137.1|refseq:NP_001121138.1|refseq:NP_001121139.1|refseq:NP_937895.1|refseq:XP_011516888.1|refseq:XP_011516889.1|refseq:XP_011516890.1|refseq:XP_011516891.1|refseq:XP_011516892.1|refseq:XP_011516893.1|refseq:XP_011516894.1|refseq:XP_011516895.1|ensembl:ENSG00000148180(gene)|ensembl:ENST00000373818(transcript)|go:"GO:0002102"(podosome)|go:"GO:0003779"(actin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006911"(phagocytosis, engulfment)|go:"GO:0007417"(central nervous system development)|go:"GO:0008154"(actin polymerization or depolymerization)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0014891"(striated muscle atrophy)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016528"(sarcoplasm)|go:"GO:0030031"(cell projection assembly)|go:"GO:0030041"(actin filament polymerization)|go:"GO:0030042"(actin filament depolymerization)|go:"GO:0030478"(actin cap)|go:"GO:0030864"(cortical actin cytoskeleton)|go:"GO:0031648"(protein destabilization)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0035994"(response to muscle stretch)|go:"GO:0036313"(phosphatidylinositol 3-kinase catalytic subunit binding)|go:"GO:0042989"(sequestering of actin monomers)|go:"GO:0045010"(actin nucleation)|go:"GO:0045159"(myosin II binding)|go:"GO:0046597"(negative regulation of viral entry into host cell)|go:"GO:0051014"(actin filament severing)|go:"GO:0051015"(actin filament binding)|go:"GO:0051016"(barbed-end actin filament capping)|go:"GO:0051127"(positive regulation of actin nucleation)|go:"GO:0051693"(actin filament capping)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060271"(cilium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071801"(regulation of podosome assembly)|go:"GO:0072562"(blood microparticle)|go:"GO:0086003"(cardiac muscle cell contraction)|go:"GO:0090527"(actin filament reorganization)|go:"GO:0097017"(renal protein absorption)|go:"GO:0097284"(hepatocyte apoptotic process)|go:"GO:1902174"(positive regulation of keratinocyte apoptotic process)|go:"GO:1903903"(regulation of establishment of T cell polarity)|go:"GO:1903906"(regulation of plasma membrane raft polarization)|go:"GO:1903909"(regulation of receptor clustering)|go:"GO:1903923"(positive regulation of protein processing in phagocytic vesicle)|go:"GO:1904813"(ficolin-1-rich granule lumen)|go:"GO:1990000"(amyloid fibril formation)|go:"GO:2001269"(positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway)|interpro:IPR007122(Gelsolin)|interpro:IPR007123(Gelsolin region)|interpro:IPR029006|interpro:IPR030004|mint:P06396|rcsb pdb:1C0F|rcsb pdb:1C0G|rcsb pdb:1D4X|rcsb pdb:1DEJ|rcsb pdb:1EQY|rcsb pdb:1ESV|rcsb pdb:1H1V|rcsb pdb:1KCQ|rcsb pdb:1MDU|rcsb pdb:1NLV|rcsb pdb:1NM1|rcsb pdb:1NMD|rcsb pdb:1P8X|rcsb pdb:1SOL|rcsb pdb:1T44|rcsb pdb:1YAG|rcsb pdb:1YVN|rcsb pdb:2FF3|rcsb pdb:2FF6|rcsb pdb:2FH1|rcsb pdb:2FH2|rcsb pdb:2FH3|rcsb pdb:2FH4|rcsb pdb:3A5L|rcsb pdb:3A5M|rcsb pdb:3A5N|rcsb pdb:3A5O|rcsb pdb:3CI5|rcsb pdb:3CIP|rcsb pdb:3CJB|rcsb pdb:3CJC|rcsb pdb:3FFK|rcsb pdb:3FFN|rcsb pdb:3TU5|rcsb pdb:4PKG|rcsb pdb:4PKH|rcsb pdb:4PKI|rcsb pdb:4S10|rcsb pdb:4Z94|rcsb pdb:5DD2|rcsb pdb:5FAE|rcsb pdb:5FAF|rcsb pdb:5H3M|rcsb pdb:5H3N|rcsb pdb:5O2Z|rcsb pdb:5UBO|rcsb pdb:5ZZ0|rcsb pdb:6H1F|rcsb pdb:6JCO|rcsb pdb:6JEG|rcsb pdb:6JEH|rcsb pdb:6LJE|rcsb pdb:6LJF|rcsb pdb:6Q9R|rcsb pdb:6Q9Z|rcsb pdb:6QBF|rcsb pdb:1P8Z|rcsb pdb:6QW3|reactome:R-HSA-264870|reactome:R-HSA-6798695|reactome:R-HSA-9662361|reactome:R-HSA-977225|refseq:NP_001244958.1|refseq:NP_001244959.1|refseq:NP_001121135.2|refseq:XP_005252000.1|refseq:XP_005252001.1|refseq:XP_005252002.1|refseq:XP_006717142.1|refseq:XP_016870135.1|refseq:XP_016870136.1|refseq:XP_016870137.1|dip:DIP-2196N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uACf9A+H6LAOAZSMGYqeDwUL1Mc9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15746 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-968482|intact:EBI-28987351|ensembl:ENSP00000353452|uniprotkb:O95796|uniprotkb:O95797|uniprotkb:O95798|uniprotkb:O95799|uniprotkb:Q14844|uniprotkb:Q16794|uniprotkb:Q5MY99|uniprotkb:Q5MYA0|intact:EBI-1758586|uniprotkb:B4DUE3|uniprotkb:D3DN97|uniprotkb:Q17S15|uniprotkb:Q6P2N0|uniprotkb:Q7Z4J0|uniprotkb:Q9C0L5|uniprotkb:Q9UBG5|uniprotkb:Q9UIT9|intact:EBI-1963605|uniprotkb:Q3ZCP9|uniprotkb:Q9UBY6 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:mylk_human(display_long)|uniprotkb:MYLK(gene name)|psi-mi:MYLK(display_short)|uniprotkb:MLCK(gene name synonym)|uniprotkb:Telokin(gene name synonym)|uniprotkb:Kinase-related protein(gene name synonym)|uniprotkb:MLCK1(gene name synonym)|uniprotkb:MYLK1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000065534(gene)|go:"GO:0006939"(smooth muscle contraction)|go:"GO:0014820"(tonic smooth muscle contraction)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0030027"(lamellipodium)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0032060"(bleb assembly)|go:"GO:0032154"(cleavage furrow)|go:"GO:0046872"(metal ion binding)|go:"GO:0051928"(positive regulation of calcium ion transport)|go:"GO:0060414"(aorta smooth muscle tissue morphogenesis)|go:"GO:0071476"(cellular hypotonic response)|go:"GO:0090303"(positive regulation of wound healing)|interpro:IPR000719(Protein kinase, core)|interpro:IPR003598(Immunoglobulin subtype 2)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR003961(Fibronectin, type III)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR013098(Immunoglobulin I-set)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR015725(Myosin Light Chain Kinase)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR036116|ensembl:ENST00000360304(transcript)|go:"GO:0001725"(stress fiber)|go:"GO:0003779"(actin binding)|go:"GO:0004672"(protein kinase activity)|go:"GO:0004687"(myosin light chain kinase activity)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006468"(protein phosphorylation)|interpro:IPR036179|rcsb pdb:2K0F|rcsb pdb:2YR3|rcsb pdb:2CQV|rcsb pdb:5JQA|rcsb pdb:5JTH|rcsb pdb:6C6M|reactome:R-HSA-445355|reactome:R-HSA-5627123|refseq:NP_444253.3|refseq:NP_444254.3|refseq:NP_444255.3|refseq:NP_444256.3|refseq:NP_444259.1|refseq:NP_001308238.1|refseq:XP_011511162.1|ensembl:ENST00000346322|ensembl:ENSP00000320622|ensembl:ENSP00000354004|ensembl:ENST00000418370|ensembl:ENSP00000428967|ensembl:ENST00000578202|ensembl:ENSP00000463691|ensembl:ENST00000583087|ensembl:ENSP00000462118|ensembl:ENST00000360772|ensembl:ENSP00000353452|refseq:NP_444260.1|refseq:XP_016861958.1|refseq:XP_016861960.1|refseq:XP_016861961.1|refseq:XP_016861962.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Wm0QbKY5KOVPytbFu5NCcT0Z1ek9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:O43707 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351526|uniprotkb:O76048|uniprotkb:D6PXK4|ensembl:ENSP00000252699|ensembl:ENSP00000489220|uniprotkb:A4K467 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actn4_human(display_long)|uniprotkb:ACTN4(gene name)|psi-mi:ACTN4(display_short)|uniprotkb:Non-muscle alpha-actinin 4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_004915.2|ensembl:ENSG00000130402(gene)|ensembl:ENSG00000282844(gene)|ensembl:ENST00000252699(transcript)|ensembl:ENST00000634960(transcript)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0001882"(nucleoside binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005925"(focal adhesion)|go:"GO:0015031"(protein transport)|go:"GO:0016604"(nuclear body)|go:"GO:0016922"(nuclear receptor binding)|go:"GO:0030050"(vesicle transport along actin filament)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0031093"(platelet alpha granule lumen)|go:"GO:0031143"(pseudopodium)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0032417"("positive regulation of sodium:proton antiporter activity")|go:"GO:0032991"(protein-containing complex)|go:"GO:0033209"(tumor necrosis factor-mediated signaling pathway)|go:"GO:0035357"(peroxisome proliferator activated receptor signaling pathway)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042974"(retinoic acid receptor binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0048384"(retinoic acid receptor signaling pathway)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051015"(actin filament binding)|go:"GO:0051272"(positive regulation of cellular component movement)|go:"GO:0070062"(extracellular exosome)|go:"GO:1900025"(negative regulation of substrate adhesion-dependent cell spreading)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1903506"(regulation of nucleic acid-templated transcription)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR002048(Calcium-binding EF-hand)|interpro:IPR011992(EF-Hand type)|interpro:IPR014837(EF-hand, Ca insensitive)|interpro:IPR018159|interpro:IPR018247|interpro:IPR036872|mint:O43707|rcsb pdb:1WLX|rcsb pdb:1YDI|rcsb pdb:2R0O|rcsb pdb:6O31|rcsb pdb:6OA6|reactome:R-HSA-114608|reactome:R-HSA-373753|dip:DIP-33179N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:kTYezA2lEtL/AQPfCQ8BE79nzow9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q15149 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-297903|intact:EBI-1103289|intact:EBI-1103265|intact:EBI-1055056|uniprotkb:Q15148|uniprotkb:Q16640|ensembl:ENSP00000323856|uniprotkb:Q6S376|intact:EBI-28976159|uniprotkb:Q6S380|intact:EBI-1103313|uniprotkb:Q6S377|uniprotkb:Q6S378|uniprotkb:Q6S379|intact:EBI-1103301|intact:EBI-1103253|uniprotkb:Q6S381|uniprotkb:Q6S382|uniprotkb:Q6S383|intact:EBI-2825763 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:plec_human(display_long)|uniprotkb:PLEC(gene name)|psi-mi:PLEC(display_short)|uniprotkb:Hemidesmosomal protein 1(gene name synonym)|uniprotkb:PLEC1(gene name synonym)|uniprotkb:Plectin-1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0030018"(Z disc)|go:"GO:0030056"(hemidesmosome)|go:"GO:0030424"(axon)|go:"GO:0030425"(dendrite)|go:"GO:0030506"(ankyrin binding)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0031581"(hemidesmosome assembly)|go:"GO:0031668"(cellular response to extracellular stimulus)|go:"GO:0032094"(response to food)|go:"GO:0032287"(peripheral nervous system myelin maintenance)|go:"GO:0034332"(adherens junction organization)|go:"GO:0034613"(cellular protein localization)|go:"GO:0035264"(multicellular organism growth)|go:"GO:0042060"(wound healing)|go:"GO:0042383"(sarcolemma)|go:"GO:0043034"(costamere)|go:"GO:0043114"(regulation of vascular permeability)|go:"GO:0043209"(myelin sheath)|go:"GO:0043621"(protein self-association)|go:"GO:0043933"(protein-containing complex organization)|go:"GO:0045104"(intermediate filament cytoskeleton organization)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0022904"(respiratory electron transport chain)|go:"GO:0045214"(sarcomere organization)|go:"GO:0045296"(cadherin binding)|go:"GO:0045445"(myoblast differentiation)|go:"GO:0048471"(perinuclear region of cytoplasm)|ensembl:ENSG00000178209(gene)|ensembl:ENST00000322810(transcript)|go:"GO:0000902"(cell morphogenesis)|go:"GO:0002162"(dystroglycan binding)|go:"GO:0002522"(leukocyte migration involved in immune response)|go:"GO:0003334"(keratinocyte development)|go:"GO:0003723"(RNA binding)|go:"GO:0003779"(actin binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005737"(cytoplasm)|go:"GO:0055013"(cardiac muscle cell development)|go:"GO:0061436"(establishment of skin barrier)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070584"(mitochondrion morphogenesis)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071464"(cellular response to hydrostatic pressure)|go:"GO:0071498"(cellular response to fluid shear stress)|go:"GO:0120193"(tight junction organization)|go:"GO:2000689"(actomyosin contractile ring assembly actin filament organization)|go:"GO:2000983"(regulation of ATP citrate synthase activity)|interpro:IPR001101(Plectin repeat)|interpro:IPR001452(Src homology-3)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR005326(Plectin/S10, N-terminal)|go:"GO:0048741"(skeletal muscle fiber development)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005925"(focal adhesion)|go:"GO:0006469"(negative regulation of protein kinase activity)|go:"GO:0006997"(nucleus organization)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0010467"(gene expression)|go:"GO:0010761"(fibroblast migration)|go:"GO:0010818"(T cell chemotaxis)|go:"GO:0014866"(skeletal myofibril assembly)|go:"GO:0016020"(membrane)|go:"GO:0016528"(sarcoplasm)|go:"GO:0016569"(obsolete covalent chromatin modification)|go:"GO:0019226"(transmission of nerve impulse)|interpro:IPR030269|interpro:IPR035915|interpro:IPR018159|interpro:IPR036388|interpro:IPR036872|interpro:IPR041573|interpro:IPR041615|interpro:IPR043197|mint:Q15149|rcsb pdb:1MB8|rcsb pdb:2N03|rcsb pdb:2ODU|rcsb pdb:2ODV|rcsb pdb:3F7P|rcsb pdb:3PDY|rcsb pdb:3PE0|rcsb pdb:4GDO|rcsb pdb:4Q58|rcsb pdb:4Q59|rcsb pdb:5J1F|rcsb pdb:5J1G|rcsb pdb:5J1H|rcsb pdb:5J1I|reactome:R-HSA-2022090|reactome:R-HSA-264870|reactome:R-HSA-446107|ensembl:ENST00000436759|ensembl:ENSP00000388180|ensembl:ENST00000527096|ensembl:ENSP00000434583|ensembl:ENSP00000323856|ensembl:ENST00000345136|ensembl:ENSP00000344848|ensembl:ENST00000354589|ensembl:ENSP00000346602|ensembl:ENST00000354958|ensembl:ENSP00000347044|ensembl:ENST00000356346|ensembl:ENSP00000348702|ensembl:ENST00000357649|ensembl:ENSP00000350277|ensembl:ENST00000398774|ensembl:ENSP00000381756|refseq:NP_000436.2|refseq:NP_958780.1|refseq:NP_958781.1|refseq:NP_958782.1|refseq:NP_958783.1|refseq:NP_958784.1|refseq:NP_958785.1|refseq:NP_958786.1 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:zbctDAOOCaJUx3WBdp85v7SI0sI9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P21333 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-350432|uniprotkb:Q8NF52|intact:EBI-1103234|ensembl:ENSP00000358866|uniprotkb:Q5HY53|uniprotkb:Q5HY55|uniprotkb:E9KL45 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:flna_human(display_long)|uniprotkb:FLNA(gene name)|psi-mi:FLNA(display_short)|uniprotkb:FLN(gene name synonym)|uniprotkb:FLN1(gene name synonym)|uniprotkb:Alpha-filamin(gene name synonym)|uniprotkb:Filamin-1(gene name synonym)|uniprotkb:Endothelial actin-binding protein(gene name synonym)|uniprotkb:Actin-binding protein 280(gene name synonym)|uniprotkb:Non-muscle filamin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0007195"(adenylate cyclase-inhibiting dopamine receptor signaling pathway)|go:"GO:1902396"(protein localization to bicellular tight junction)|refseq:NP_001104026.1|refseq:NP_001447.2|ensembl:ENSG00000196924(gene)|ensembl:ENST00000369850(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001664"(G protein-coupled receptor binding)|go:"GO:0001837"(epithelial to mesenchymal transition)|go:"GO:0001974"(blood vessel remodeling)|go:"GO:0003007"(heart morphogenesis)|go:"GO:0003723"(RNA binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005829"(cytosol)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048680"(positive regulation of axon regeneration)|go:"GO:0050808"(synapse organization)|go:"GO:0050821"(protein stabilization)|go:"GO:0051015"(actin filament binding)|go:"GO:0051020"(GTPase binding)|go:"GO:0051220"(cytoplasmic sequestering of protein)|go:"GO:0051764"(actin crosslink formation)|go:"GO:0060271"(cilium assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0071526"(semaphorin-plexin signaling pathway)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0090042"(tubulin deacetylation)|go:"GO:0090307"(mitotic spindle assembly)|go:"GO:0097368"(establishment of Sertoli cell barrier)|go:"GO:0097440"(apical dendrite)|go:"GO:0098794"(postsynapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1900026"(positive regulation of substrate adhesion-dependent cell spreading)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:0046332"(SMAD binding)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0015459"(potassium channel regulator activity)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0016479"(negative regulation of transcription by RNA polymerase I)|go:"GO:0019900"(kinase binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0021943"(formation of radial glial scaffolds)|go:"GO:0021987"(cerebral cortex development)|go:"GO:0030018"(Z disc)|go:"GO:0030334"(regulation of cell migration)|go:"GO:0030863"(cortical cytoskeleton)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031523"(Myb complex)|go:"GO:0031532"(actin cytoskeleton reorganization)|go:"GO:0031852"(mu-type opioid receptor binding)|go:"GO:0032233"(positive regulation of actin filament bundle assembly)|go:"GO:0032432"(actin filament bundle)|go:"GO:0034394"(protein localization to cell surface)|go:"GO:0034988"(Fc-gamma receptor I complex binding)|go:"GO:0042177"(negative regulation of protein catabolic process)|go:"GO:0042307"(positive regulation of protein import into nucleus)|go:"GO:0042789"(mRNA transcription by RNA polymerase II)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043113"(receptor clustering)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043198"(dendritic shaft)|go:"GO:0043204"(perikaryon)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0044295"(axonal growth cone)|go:"GO:0044319"(wound healing, spreading of cells)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0045022"(early endosome to late endosome transport)|go:"GO:0045184"(establishment of protein localization)|go:"GO:0045216"(cell-cell junction organization)|go:"GO:0045296"(cadherin binding)|reactome:R-HSA-114608|reactome:R-HSA-430116|reactome:R-HSA-446353|reactome:R-HSA-5627123|reactome:R-HSA-8983711|rcsb pdb:6EW1|go:"GO:1905031"(regulation of membrane repolarization during cardiac muscle cell action potential)|go:"GO:2000179"(positive regulation of neural precursor cell proliferation)|go:"GO:2001046"(positive regulation of integrin-mediated signaling pathway)|go:"GO:2001224"(positive regulation of neuron migration)|interpro:IPR001298(Filamin/ABP280 repeat)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR017868|interpro:IPR036872|interpro:IPR044801|mint:P21333|rcsb pdb:2AAV|rcsb pdb:2BP3|rcsb pdb:2BRQ|rcsb pdb:2J3S|rcsb pdb:2JF1|rcsb pdb:2K3T|rcsb pdb:2K7P|rcsb pdb:2K7Q|rcsb pdb:2MTP|rcsb pdb:2W0P|rcsb pdb:2WFN|rcsb pdb:3CNK|rcsb pdb:3HOC|rcsb pdb:3HOP|rcsb pdb:3HOR|rcsb pdb:3ISW|rcsb pdb:3RGH|rcsb pdb:4M9P|rcsb pdb:4P3W|rcsb pdb:5XR1|rcsb pdb:6D8C|go:"GO:1905000"(regulation of membrane repolarization during atrial cardiac muscle cell action potential)|dip:DIP-1136N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:ZxGK5OSMy8cNsyt7Ax2KXb8bn9M9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P14136 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-744302|uniprotkb:Q53H98|uniprotkb:Q5D055|uniprotkb:Q6ZQS3|uniprotkb:Q7Z5J6|uniprotkb:Q7Z5J7|uniprotkb:Q96KS4|uniprotkb:Q96P18|uniprotkb:Q9UFD0|uniprotkb:B2RD44|uniprotkb:D3DX59|intact:EBI-3909365|uniprotkb:E9PAX3|ensembl:ENSP00000466598|uniprotkb:A7REI1 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:gfap_human(display_long)|uniprotkb:GFAP(gene name)|psi-mi:GFAP(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001124491.1|refseq:NP_001229305.1|refseq:NP_002046.1|ensembl:ENSG00000131095(gene)|ensembl:ENST00000588735(transcript)|go:"GO:0005178"(integrin binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005882"(intermediate filament)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0009611"(response to wounding)|go:"GO:0010467"(gene expression)|go:"GO:0010625"(positive regulation of Schwann cell proliferation)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0014002"(astrocyte development)|go:"GO:0019900"(kinase binding)|go:"GO:0030198"(extracellular matrix organization)|go:"GO:0031102"(neuron projection regeneration)|go:"GO:0042802"(identical protein binding)|go:"GO:0043254"(regulation of protein-containing complex assembly)|go:"GO:0044297"(cell body)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0051580"(regulation of neurotransmitter uptake)|go:"GO:0060020"(Bergmann glial cell differentiation)|go:"GO:0060291"(long-term synaptic potentiation)|go:"GO:0070779"(D-aspartate import across plasma membrane)|go:"GO:0097450"(astrocyte end-foot)|go:"GO:0098574"(cytoplasmic side of lysosomal membrane)|go:"GO:1904714"(regulation of chaperone-mediated autophagy)|interpro:IPR006821(Intermediate filament, DNA-binding region)|interpro:IPR018039|interpro:IPR027701|interpro:IPR039008|mint:P14136|rcsb pdb:6A9P|reactome:R-HSA-1251985|reactome:R-HSA-9613829 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:Pz4JW0WjMjBYILTDSX9jUmMqWhg9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q13363 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P46821 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-764611|uniprotkb:A2BDK5|ensembl:ENSP00000296755 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:map1b_human(display_long)|uniprotkb:MAP1B(gene name)|psi-mi:MAP1B(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_005900.2|dip:DIP-33474N|ensembl:ENSG00000131711(gene)|ensembl:ENST00000296755(transcript)|go:"GO:0001578"(microtubule bundle formation)|go:"GO:0001750"(photoreceptor outer segment)|go:"GO:0001764"(neuron migration)|go:"GO:0003779"(actin binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005543"(phospholipid binding)|go:"GO:0005829"(cytosol)|go:"GO:0005874"(microtubule)|go:"GO:0005875"(microtubule associated complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0007026"(negative regulation of microtubule depolymerization)|go:"GO:0007409"(axonogenesis)|go:"GO:0007416"(synapse assembly)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0008017"(microtubule binding)|go:"GO:0009612"(response to mechanical stimulus)|go:"GO:0009743"(response to carbohydrate)|go:"GO:0009987"(cellular process)|go:"GO:0010035"(response to inorganic substance)|go:"GO:0014012"(peripheral nervous system axon regeneration)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016358"(dendrite development)|go:"GO:0021700"(developmental maturation)|go:"GO:0030424"(axon)|go:"GO:0030425"(dendrite)|go:"GO:0030426"(growth cone)|go:"GO:0031114"(regulation of microtubule depolymerization)|go:"GO:0031116"(positive regulation of microtubule polymerization)|go:"GO:0032355"(response to estradiol)|go:"GO:0032387"(negative regulation of intracellular transport)|go:"GO:0033189"(response to vitamin A)|go:"GO:0036477"(somatodendritic compartment)|go:"GO:0042493"|go:"GO:0043025"(neuronal cell body)|go:"GO:0043196"(varicosity)|go:"GO:0043197"(dendritic spine)|go:"GO:0043204"(perikaryon)|go:"GO:0017085"(response to insecticide)|go:"GO:0045202"(synapse)|go:"GO:0045666"(positive regulation of neuron differentiation)|go:"GO:0045773"(positive regulation of axon extension)|go:"GO:0047497"(mitochondrion transport along microtubule)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048675"(axon extension)|go:"GO:0051915"(induction of synaptic plasticity by chemical substance)|go:"GO:0061162"(establishment of monopolar cell polarity)|go:"GO:0071363"(cellular response to growth factor stimulus)|go:"GO:0071375"(cellular response to peptide hormone stimulus)|go:"GO:0097440"(apical dendrite)|go:"GO:0097441"(basal dendrite)|go:"GO:0097457"(hippocampal mossy fiber)|interpro:IPR000102(Neuraxin/MAP1B repeat)|go:"GO:0044877"(protein-containing complex binding)|interpro:IPR027321|mint:P46821|interpro:IPR026074 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:uSRzrWaYU/dmkItUkCK4zex+/TM9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P08670 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-353844|uniprotkb:Q15867|uniprotkb:Q15868|uniprotkb:Q15869|uniprotkb:Q548L2|uniprotkb:Q6LER9|uniprotkb:Q8N850|uniprotkb:Q96ML2|uniprotkb:Q9NTM3|uniprotkb:B0YJC2|intact:EBI-3442369|uniprotkb:D3DRU4|ensembl:ENSP00000224237|ensembl:ENSP00000446007 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:vime_human(display_long)|uniprotkb:VIM(gene name)|psi-mi:VIM(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_003371.2|ensembl:ENSG00000026025(gene)|ensembl:ENST00000224237(transcript)|ensembl:ENST00000544301(transcript)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0005737"(cytoplasm)|go:"GO:0005777"(peroxisome)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005882"(intermediate filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0014002"(astrocyte development)|go:"GO:0016363"(nuclear matrix)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031252"(cell leading edge)|go:"GO:0032967"(positive regulation of collagen biosynthetic process)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0060020"(Bergmann glial cell differentiation)|go:"GO:0070307"(lens fiber cell development)|go:"GO:0060395"(SMAD protein signal transduction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0097110"(scaffold protein binding)|go:"GO:1990254"(keratin filament binding)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR006821(Intermediate filament, DNA-binding region)|interpro:IPR018039|interpro:IPR027699|interpro:IPR039008|mint:P08670|rcsb pdb:1GK4|rcsb pdb:1GK6|rcsb pdb:1GK7|rcsb pdb:3G1E|rcsb pdb:3KLT|rcsb pdb:3S4R|rcsb pdb:3SSU|rcsb pdb:3SWK|rcsb pdb:3TRT|rcsb pdb:3UF1|rcsb pdb:4MCY|rcsb pdb:4MCZ|rcsb pdb:4MD0|rcsb pdb:4MD5|rcsb pdb:4MDI|rcsb pdb:4MDJ|rcsb pdb:4YPC|rcsb pdb:4YV3|rcsb pdb:5WHF|rcsb pdb:6ATF|rcsb pdb:6ATI|rcsb pdb:6BIR|rcsb pdb:6YXK|reactome:R-HSA-264870|reactome:R-HSA-390522|reactome:R-HSA-6785807|reactome:R-HSA-9013422|reactome:R-HSA-9613829|reactome:R-HSA-9615710|reactome:R-HSA-9646399|refseq:XP_006717563.1|dip:DIP-32507N intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:GhAhVuXMNxi6P5J0CfNi5l9bjRk9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:P63261 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-351292|uniprotkb:P02571|uniprotkb:P14104|uniprotkb:P99022|uniprotkb:Q5U032|uniprotkb:Q96E67|uniprotkb:A8K7C2|ensembl:ENSP00000505060|ensembl:ENSP00000505193|ensembl:ENSP00000505235|ensembl:ENSP00000506126|ensembl:ENSP00000506201|ensembl:ENSP00000506253|ensembl:ENSP00000458162|ensembl:ENSP00000458435|ensembl:ENSP00000459119|ensembl:ENSP00000459124|ensembl:ENSP00000460464|ensembl:ENSP00000460660|ensembl:ENSP00000461672|ensembl:ENSP00000466346|ensembl:ENSP00000477968 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:actg_human(display_long)|uniprotkb:ACTG1(gene name)|psi-mi:ACTG1(display_short)|uniprotkb:ACTG(gene name synonym)|uniprotkb:Gamma-actin(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047305|imex:IM-29110-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001186883.1|refseq:NP_001605.1|ensembl:ENST00000570382(transcript)|ensembl:ENSG00000184009(gene)|ensembl:ENST00000571721(transcript)|ensembl:ENST00000573283(transcript)|ensembl:ENST00000575087(transcript)|ensembl:ENST00000575659(transcript)|ensembl:ENST00000575842(transcript)|ensembl:ENST00000575994(transcript)|ensembl:ENST00000576544(transcript)|ensembl:ENST00000615544(transcript)|ensembl:ENST00000679480(transcript)|ensembl:ENST00000679778(transcript)|ensembl:ENST00000680227(transcript)|ensembl:ENST00000680727(transcript)|ensembl:ENST00000681052(transcript)|ensembl:ENST00000681842(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001738"(morphogenesis of a polarized epithelium)|go:"GO:0001895"(retina homeostasis)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005522"(profilin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0030016"(myofibril)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0031941"(filamentous actin)|go:"GO:0035633"(maintenance of blood-brain barrier)|go:"GO:0042802"(identical protein binding)|go:"GO:0043296"(apical junction complex)|go:"GO:0044305"(calyx of Held)|go:"GO:0045214"(sarcomere organization)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0048488"(synaptic vesicle endocytosis)|go:"GO:0051492"(regulation of stress fiber assembly)|go:"GO:0051893"(regulation of focal adhesion assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070527"(platelet aggregation)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0072562"(blood microparticle)|go:"GO:0090303"(positive regulation of wound healing)|go:"GO:0097433"(dense body)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0098973"(structural constituent of postsynaptic actin cytoskeleton)|go:"GO:0120192"(tight junction assembly)|go:"GO:0120220"(basal body patch)|go:"GO:0150111"(regulation of transepithelial transport)|go:"GO:1902396"(protein localization to bicellular tight junction)|interpro:IPR004000(Actin/actin-like)|interpro:IPR004001(Actin, conserved site)|interpro:IPR020902|interpro:IPR043129|mint:P63261|rcsb pdb:5JLH|rcsb pdb:6CXI|rcsb pdb:6CXJ|rcsb pdb:6G2T|rcsb pdb:6V62|rcsb pdb:6V63|rcsb pdb:6WK1|rcsb pdb:6WK2|reactome:R-HSA-1445148|reactome:R-HSA-190873|reactome:R-HSA-196025|reactome:R-HSA-2029482|reactome:R-HSA-3928662|reactome:R-HSA-3928665|reactome:R-HSA-418990|reactome:R-HSA-437239|reactome:R-HSA-4420097|reactome:R-HSA-445095|reactome:R-HSA-446353|reactome:R-HSA-5626467|reactome:R-HSA-5663213|reactome:R-HSA-5663220|reactome:R-HSA-5674135|reactome:R-HSA-6802946|reactome:R-HSA-6802948|reactome:R-HSA-6802952|reactome:R-HSA-6802955|reactome:R-HSA-8856828|reactome:R-HSA-9013418|reactome:R-HSA-9649948|reactome:R-HSA-9656223|reactome:R-HSA-9662360|reactome:R-HSA-9662361|reactome:R-HSA-9664422 intact:EBI-27046166(see-also) - - figure legend:Supplementary Figure 1|comment:The experiment was repeated twice and the association is from Proteomics II list|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/11/30 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B2OOsE06lTfo90H3g8tlmUJQ7cY9606 rigid:mC6vW7C0IYFU04sWdn//MNt1dJ8 false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0427"(Identification by mass spectrometry) psi-mi:"MI:0427"(Identification by mass spectrometry) uniprotkb:Q13363 uniprotkb:Q96KQ7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-744366|uniprotkb:B0UZY2|uniprotkb:Q14349|uniprotkb:Q6PK06|uniprotkb:Q96MH5|uniprotkb:Q96QD0|uniprotkb:Q9UQL8|uniprotkb:Q9Y331|uniprotkb:Q5JQ92|uniprotkb:Q5JP83|uniprotkb:Q5JQA1|uniprotkb:Q5JQG3|ensembl:ENSP00000364687|ensembl:ENSP00000372864|ensembl:ENSP00000392305|ensembl:ENSP00000396119|ensembl:ENSP00000406110|ensembl:ENSP00000416957 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ehmt2_human(display_long)|uniprotkb:KMT1C(gene name synonym)|uniprotkb:Histone H3-K9 methyltransferase 3(gene name synonym)|uniprotkb:Euchromatic histone-lysine N-methyltransferase 2(gene name synonym)|uniprotkb:HLA-B-associated transcript 8(gene name synonym)|uniprotkb:Protein G9a(gene name synonym)|uniprotkb:Lysine N-methyltransferase 1C(gene name synonym)|uniprotkb:EHMT2(gene name)|psi-mi:EHMT2(display_short)|uniprotkb:BAT8(gene name synonym)|uniprotkb:G9A(gene name synonym)|uniprotkb:NG36(gene name synonym)|uniprotkb:C6orf30(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047296|imex:IM-29110-7 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006700.3|refseq:NP_079532.5|interpro:IPR043550|mint:Q96KQ7|rcsb pdb:2O8J|rcsb pdb:3DM1|rcsb pdb:3K5K|rcsb pdb:3RJW|rcsb pdb:4NVQ|rcsb pdb:5JHN|rcsb pdb:5JIN|rcsb pdb:5JIY|rcsb pdb:5JJ0|rcsb pdb:5T0K|rcsb pdb:5T0M|rcsb pdb:5TTF|rcsb pdb:5TUY|rcsb pdb:5V9I|rcsb pdb:5VSC|rcsb pdb:5VSE|rcsb pdb:6MM1|rcsb pdb:7BTV|rcsb pdb:7BUC|rcsb pdb:7DCF|reactome:R-HSA-2559582|reactome:R-HSA-3214841|reactome:R-HSA-427389|reactome:R-HSA-6804760|reactome:R-HSA-73762|reactome:R-HSA-8853884|reactome:R-HSA-8953750|ensembl:ENSG00000204371(gene)|ensembl:ENSG00000206376(gene)|ensembl:ENSG00000227333(gene)|ensembl:ENSG00000232045(gene)|go:"GO:0010424"(DNA methylation on cytosine within a CG sequence)|go:"GO:0016279"(protein-lysine N-methyltransferase activity)|go:"GO:0016571"(histone methylation)|go:"GO:0016607"(nuclear speck)|go:"GO:0018024"(histone-lysine N-methyltransferase activity)|go:"GO:0018027"(peptidyl-lysine dimethylation)|go:"GO:0034968"(histone lysine methylation)|go:"GO:0035265"(organ growth)|go:"GO:0035690"|go:"GO:0036166"(phenotypic switching)|go:"GO:0044030"(regulation of DNA methylation)|go:"GO:0045471"(response to ethanol)|ensembl:ENSG00000236759(gene)|ensembl:ENSG00000238134(gene)|ensembl:ENST00000375537(transcript)|ensembl:ENST00000383373(transcript)|ensembl:ENST00000420336(transcript)|ensembl:ENST00000421926(transcript)|ensembl:ENST00000429506(transcript)|ensembl:ENST00000450075(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0002039"(p53 binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006275"(regulation of DNA replication)|go:"GO:0006306"(DNA methylation)|go:"GO:0007130"(synaptonemal complex assembly)|go:"GO:0007286"(spermatid development)|go:"GO:0007616"(long-term memory)|go:"GO:0008270"(zinc ion binding)|go:"GO:0009267"(cellular response to starvation)|go:"GO:0009566"(fertilization)|go:"GO:0046974"("histone methyltransferase activity (H3-K9 specific)")|go:"GO:0046976"("histone methyltransferase activity (H3-K27 specific)")|go:"GO:0048148"(behavioral response to cocaine)|go:"GO:0048665"(neuron fate specification)|go:"GO:0051569"(regulation of histone H3-K4 methylation)|go:"GO:0051570"(regulation of histone H3-K9 methylation)|go:"GO:0060992"(response to fungicide)|go:"GO:0070742"(C2H2 zinc finger domain binding)|go:"GO:0071314"(cellular response to cocaine)|go:"GO:1902902"(negative regulation of autophagosome assembly)|go:"GO:1990841"(promoter-specific chromatin binding)|interpro:IPR001214(SET)|interpro:IPR002110(Ankyrin)|interpro:IPR007728(Pre-SET zinc-binding region)|interpro:IPR020683|interpro:IPR036770|interpro:IPR038034|refseq:NP_001305762.1|refseq:NP_001276342.1|dip:DIP-34461N intact:EBI-27047860(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dblr0h0KBVa6kvaDHhnynRuHE6E9606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q13363 uniprotkb:Q9UKL0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-926563|uniprotkb:Q15044|uniprotkb:Q6P2I9|uniprotkb:Q86VG5|intact:EBI-11087913|uniprotkb:J3KN32|ensembl:ENSP00000262241 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rcor1_human(display_long)|uniprotkb:RCOR1(gene name)|psi-mi:RCOR1(display_short)|uniprotkb:KIAA0071(gene name synonym)|uniprotkb:RCOR(gene name synonym)|uniprotkb:Protein CoREST(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047296|imex:IM-29110-7 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_055971.2|dip:DIP-35263N|ensembl:ENSG00000089902(gene)|ensembl:ENST00000262241(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016575"(histone deacetylation)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019899"(enzyme binding)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0045654"(positive regulation of megakaryocyte differentiation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:1990391"(DNA repair complex)|interpro:IPR000949(ELM2)|interpro:IPR001005(SANT, DNA-binding)|interpro:IPR009057(Homeodomain-like)|interpro:IPR017884|interpro:IPR017930|mint:Q9UKL0|rcsb pdb:2IW5|rcsb pdb:2UXN|rcsb pdb:2UXX|rcsb pdb:2V1D|rcsb pdb:2X0L|rcsb pdb:2XAF|rcsb pdb:2XAG|rcsb pdb:2XAH|rcsb pdb:2XAJ|rcsb pdb:2XAQ|rcsb pdb:2XAS|rcsb pdb:2Y48|rcsb pdb:3ZMS|rcsb pdb:3ZMT|rcsb pdb:3ZMU|rcsb pdb:3ZMV|rcsb pdb:3ZMZ|rcsb pdb:3ZN0|rcsb pdb:3ZN1|rcsb pdb:4BAY|rcsb pdb:4KUM|rcsb pdb:4UV8|rcsb pdb:4UV9|rcsb pdb:4UVA|rcsb pdb:4UVB|rcsb pdb:4UVC|rcsb pdb:4UXN|rcsb pdb:4XBF|rcsb pdb:5H6Q|rcsb pdb:5H6R|rcsb pdb:5L3B|rcsb pdb:5L3C|rcsb pdb:5L3D|rcsb pdb:5L3E|rcsb pdb:5L3F|rcsb pdb:5L3G|rcsb pdb:5LBQ|rcsb pdb:5LGN|rcsb pdb:5LGT|rcsb pdb:5LGU|rcsb pdb:5LHG|rcsb pdb:5LHH|rcsb pdb:5LHI|rcsb pdb:5X60|rcsb pdb:5YJB|rcsb pdb:6K3E|rcsb pdb:6KGK|rcsb pdb:6KGL|rcsb pdb:6KGM|rcsb pdb:6KGN|rcsb pdb:6S35|rcsb pdb:6TE1|rcsb pdb:6VYP|rcsb pdb:6W4K|rcsb pdb:6WC6|rcsb pdb:7CDC|rcsb pdb:7CDD|rcsb pdb:7CDE|rcsb pdb:7CDF|rcsb pdb:7CDG|reactome:R-HSA-3214815|reactome:R-HSA-8943724|reactome:R-HSA-9679191|reactome:R-HSA-983231 intact:EBI-27047860(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B1KfnjicGzKdWGnGGrZwjgpMQ309606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q13363 uniprotkb:Q92769 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-301821|uniprotkb:Q5SRI8|uniprotkb:Q5SZ86|uniprotkb:Q8NEH4|uniprotkb:B4DL58|ensembl:ENSP00000430432|uniprotkb:E1P561|uniprotkb:B3KRS5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hdac2_human(display_long)|uniprotkb:HDAC2(gene name)|psi-mi:HDAC2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047296|imex:IM-29110-7 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0009913"(epidermal cell differentiation)|go:"GO:0010718"(positive regulation of epithelial to mesenchymal transition)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0016358"(dendrite development)|go:"GO:0016575"(histone deacetylation)|go:"GO:0016580"(Sin3 complex)|go:"GO:0016581"(NuRD complex)|go:"GO:0019213"(deacetylase activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0031000"(response to caffeine)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0032041"("NAD-dependent histone deacetylase activity (H3-K14 specific)")|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032732"(positive regulation of interleukin-1 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032967"(positive regulation of collagen biosynthetic process)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033558"(protein deacetylase activity)|go:"GO:0034605"(cellular response to heat)|go:"GO:0035094"(response to nicotine)|go:"GO:0035098"("ESC/E(Z) complex")|go:"GO:0042220"(response to cocaine)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0042493"|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042733"(embryonic digit morphogenesis)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043044"|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043392"(negative regulation of DNA binding)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045347"(negative regulation of MHC class II biosynthetic process)|go:"GO:0045862"(positive regulation of proteolysis)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048149"(behavioral response to ethanol)|go:"GO:0004407"(histone deacetylase activity)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0055093"(response to hyperoxia)|go:"GO:0060789"(hair follicle placode formation)|go:"GO:0061000"(negative regulation of dendritic spine development)|go:"GO:0061029"(eyelid development in camera-type eye)|go:"GO:0061198"(fungiform papilla formation)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070301"(cellular response to hydrogen peroxide)|go:"GO:0070829"(obsolete heterochromatin maintenance)|go:"GO:0070932"(histone H3 deacetylation)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:0071300"(cellular response to retinoic acid)|go:"GO:0071560"(cellular response to transforming growth factor beta stimulus)|go:"GO:1902437"(positive regulation of male mating behavior)|go:"GO:1903351"(cellular response to dopamine)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:2000273"(positive regulation of signaling receptor activity)|go:"GO:2000757"(negative regulation of peptidyl-lysine acetylation)|interpro:IPR000286(Histone deacetylase superfamily)|interpro:IPR003084(Histone deacetylase)|interpro:IPR023696|interpro:IPR023801|interpro:IPR037138|mint:Q92769|rcsb pdb:3MAX|rcsb pdb:4LXZ|rcsb pdb:4LY1|rcsb pdb:5IWG|rcsb pdb:5IX0|rcsb pdb:6G3O|rcsb pdb:6WBW|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|ensembl:ENSG00000196591(gene)|ensembl:ENST00000519065(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0001975"(response to amphetamine)|go:"GO:0003300"(cardiac muscle hypertrophy)|go:"GO:0003682"(chromatin binding)|go:"GO:0003723"(RNA binding)|rcsb pdb:6WHN|rcsb pdb:6WHO|rcsb pdb:6WHQ|rcsb pdb:6WHZ|rcsb pdb:6WI3|rcsb pdb:6XDM|rcsb pdb:6XEB|rcsb pdb:6XEC|rcsb pdb:7KBG|rcsb pdb:7KBH|rcsb pdb:7LTG|rcsb pdb:7LTK|rcsb pdb:7LTL|reactome:R-HSA-193670|reactome:R-HSA-2122947|reactome:R-HSA-2644606|reactome:R-HSA-2894862|reactome:R-HSA-3214815|reactome:R-HSA-350054|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-4551638|reactome:R-HSA-6804758|reactome:R-HSA-73762|reactome:R-HSA-8943724|reactome:R-HSA-9022692|reactome:R-HSA-9022699|reactome:R-HSA-9615017|reactome:R-HSA-9619665|reactome:R-HSA-9679191|reactome:R-HSA-983231|rcsb pdb:6WBZ|refseq:NP_001518.3|dip:DIP-24220N|refseq:XP_011534090.1|refseq:XP_016866288.1 intact:EBI-27047860(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:K4PpGz9E9/TrQZsgvrJuc+uYCn89606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q13363 uniprotkb:O60341 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-710124|uniprotkb:Q5TH94|uniprotkb:Q5TH95|uniprotkb:Q86VT7|uniprotkb:Q8IXK4|uniprotkb:Q8NDP6|uniprotkb:Q8TAZ3|uniprotkb:Q96AW4|ensembl:ENSP00000349049|uniprotkb:A8MWP9 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:kdm1a_human(display_long)|uniprotkb:Flavin-containing amine oxidase domain-containing protein 2(gene name synonym)|uniprotkb:BRAF35-HDAC complex protein BHC110(gene name synonym)|uniprotkb:KDM1A(gene name)|psi-mi:KDM1A(display_short)|uniprotkb:KIAA0601(gene name synonym)|uniprotkb:LSD1(gene name synonym)|uniprotkb:AOF2(gene name synonym)|uniprotkb:KDM1(gene name synonym)|uniprotkb:"[histone H3]-dimethyl-L-lysine(4) FAD-dependent demethylase 1A"(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047296|imex:IM-29110-7 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0021987"(cerebral cortex development)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032451"(demethylase activity)|refseq:NP_001009999.1|refseq:NP_055828.2|ensembl:ENSG00000004487(gene)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006482"(protein demethylation)|go:"GO:0008134"(transcription factor binding)|go:"GO:0010569"(regulation of double-strand break repair via homologous recombination)|ensembl:ENST00000356634(transcript)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0016491"(oxidoreductase activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0000380"(alternative mRNA splicing, via spliceosome)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000785"(chromatin)|go:"GO:0002039"(p53 binding)|go:"GO:0002052"(positive regulation of neuroblast proliferation)|go:"GO:0003682"(chromatin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|dip:DIP-34641N|go:"GO:0032452"(histone demethylase activity)|go:"GO:0032453"(histone H3-methyl-lysine-4 demethylase activity)|go:"GO:0032454"(histone H3-methyl-lysine-9 demethylase activity)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033169"(histone H3-K9 demethylation)|go:"GO:0033184"(positive regulation of histone ubiquitination)|go:"GO:0034644"(cellular response to UV)|go:"GO:0034648"("obsolete histone demethylase activity (H3-dimethyl-K4 specific)")|go:"GO:0034720"(histone H3-K4 demethylation)|go:"GO:0035563"(positive regulation of chromatin binding)|go:"GO:0042551"(neuron maturation)|go:"GO:0043392"(negative regulation of DNA binding)|go:"GO:0043426"(MRF binding)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0043518"(negative regulation of DNA damage response, signal transduction by p53 class mediator)|go:"GO:0045793"(positive regulation of cell size)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046098"(guanine metabolic process)|go:"GO:0050660"(flavin adenine dinucleotide binding)|go:"GO:0050681"(androgen receptor binding)|go:"GO:0051091"(positive regulation of DNA-binding transcription factor activity)|go:"GO:0051572"(negative regulation of histone H3-K4 methylation)|go:"GO:0051573"(negative regulation of histone H3-K9 methylation)|go:"GO:0055001"(muscle cell development)|go:"GO:0060765"(regulation of androgen receptor signaling pathway)|go:"GO:0060992"(response to fungicide)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0061752"(telomeric repeat-containing RNA binding)|go:"GO:0071320"(cellular response to cAMP)|go:"GO:0071480"(cellular response to gamma radiation)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|go:"GO:1902166"(negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator)|go:"GO:1903827"|go:"GO:1990391"(DNA repair complex)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:2000179"(positive regulation of neural precursor cell proliferation)|go:"GO:2000648"(positive regulation of stem cell proliferation)|interpro:IPR002937(Amine oxidase)|interpro:IPR007526(SWIRM)|interpro:IPR009057(Homeodomain-like)|interpro:IPR017366(Histone lysine-specific demethylase)|interpro:IPR036188|interpro:IPR036388|mint:O60341|rcsb pdb:2COM|rcsb pdb:2DW4|rcsb pdb:2EJR|rcsb pdb:2H94|rcsb pdb:2HKO|rcsb pdb:2IW5|rcsb pdb:2L3D|rcsb pdb:2UXN|rcsb pdb:2UXX|rcsb pdb:2V1D|rcsb pdb:2X0L|rcsb pdb:2XAF|rcsb pdb:2XAG|rcsb pdb:2XAH|rcsb pdb:2XAJ|rcsb pdb:2XAQ|rcsb pdb:2XAS|rcsb pdb:2Y48|rcsb pdb:2Z3Y|rcsb pdb:2Z5U|rcsb pdb:3ABT|rcsb pdb:3ABU|rcsb pdb:3ZMS|rcsb pdb:3ZMT|rcsb pdb:3ZMU|rcsb pdb:3ZMV|rcsb pdb:3ZMZ|rcsb pdb:3ZN0|rcsb pdb:3ZN1|rcsb pdb:4BAY|rcsb pdb:4CZZ|rcsb pdb:4KUM|rcsb pdb:4UV8|rcsb pdb:4UV9|rcsb pdb:4UVA|rcsb pdb:4UVB|rcsb pdb:4UVC|rcsb pdb:4UXN|rcsb pdb:4XBF|rcsb pdb:5AFW|rcsb pdb:5H6Q|rcsb pdb:5H6R|rcsb pdb:5IT3|rcsb pdb:5L3B|rcsb pdb:5L3C|rcsb pdb:5L3D|rcsb pdb:5L3E|rcsb pdb:5L3F|rcsb pdb:5L3G|rcsb pdb:5LBQ|rcsb pdb:5LGN|rcsb pdb:5LGT|rcsb pdb:5LGU|rcsb pdb:5LHG|rcsb pdb:5LHH|rcsb pdb:5LHI|rcsb pdb:5X60|rcsb pdb:5YJB|rcsb pdb:6E1F|rcsb pdb:6K3E|rcsb pdb:6KGK|rcsb pdb:6KGL|rcsb pdb:6KGM|rcsb pdb:6KGN|rcsb pdb:6KGO|rcsb pdb:6KGP|rcsb pdb:6KGQ|rcsb pdb:6KGR|rcsb pdb:6NQM|rcsb pdb:6NQU|rcsb pdb:6NR5|rcsb pdb:6S35|rcsb pdb:6TE1|rcsb pdb:6VYP|rcsb pdb:6W4K|rcsb pdb:6WC6|rcsb pdb:7CDC|rcsb pdb:7CDD|rcsb pdb:7CDE|rcsb pdb:7CDF|rcsb pdb:7CDG|rcsb pdb:7E0G|rcsb pdb:7JJL|rcsb pdb:7JJM|rcsb pdb:7JK7|reactome:R-HSA-3214815|reactome:R-HSA-3214842|reactome:R-HSA-5625886|reactome:R-HSA-8943724|reactome:R-HSA-9018519|reactome:R-HSA-9029569|reactome:R-HSA-9679191|reactome:R-HSA-983231 intact:EBI-27047860(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rS9F23Rg1Ha6XOQSisWQfhKVFfs9606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q13363 uniprotkb:P37275 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2849734|uniprotkb:Q12924|uniprotkb:Q5T968|uniprotkb:Q13800|uniprotkb:Q2KJ05|uniprotkb:B4DJV0|uniprotkb:B4DUW9|uniprotkb:E9PCM7|uniprotkb:F5H4I8|uniprotkb:Q5VZ84|uniprotkb:Q8NB68|intact:EBI-11153310|ensembl:ENSP00000319248 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zeb1_human(display_long)|uniprotkb:ZEB1(gene name)|psi-mi:ZEB1(display_short)|uniprotkb:AREB6(gene name synonym)|uniprotkb:TCF8(gene name synonym)|uniprotkb:NIL-2-A zinc finger protein(gene name synonym)|uniprotkb:Negative regulator of IL2(gene name synonym)|uniprotkb:Transcription factor 8(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047296|imex:IM-29110-7 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001121600.1|refseq:NP_001167565.1|refseq:NP_001167566.1|refseq:NP_110378.3|refseq:NP_001167564.1|refseq:NP_001167567.1|ensembl:ENSG00000148516(gene)|ensembl:ENST00000320985(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007399"(nervous system development)|go:"GO:0008270"(zinc ion binding)|go:"GO:0030154"(cell differentiation)|go:"GO:0045602"(negative regulation of endothelial cell differentiation)|go:"GO:0045666"(positive regulation of neuron differentiation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0048856"(anatomical structure development)|go:"GO:0070888"(E-box binding)|interpro:IPR001356(Homeobox)|interpro:IPR008598(Drought induced 19)|interpro:IPR009057(Homeodomain-like)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|rcsb pdb:2E19|reactome:R-HSA-6785807|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific) intact:EBI-27047860(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2QwbT74tbgA6Jec85fGMRYg0EBI9606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q13363 uniprotkb:O75362 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6597704|ensembl:ENSP00000304308|ensembl:ENSP00000360526|uniprotkb:E1P5Y6|uniprotkb:Q14DB8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn217_human(display_long)|uniprotkb:ZNF217(gene name)|psi-mi:ZNF217(display_short)|uniprotkb:ZABC1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047296|imex:IM-29110-7 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000171940(gene)|ensembl:ENST00000302342(transcript)|ensembl:ENST00000371471(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000976"(transcription cis-regulatory region binding)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0016607"(nuclear speck)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|rcsb pdb:2HU2|rcsb pdb:3UK3|rcsb pdb:4F2J|rcsb pdb:4IS1|reactome:R-HSA-9018519|refseq:NP_006517.1|refseq:XP_016883548.1 intact:EBI-27047860(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:E65TwYRj7QeQtQbTWV8q91QlwQk9606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q13363 uniprotkb:P56545 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-741533|uniprotkb:O43449|uniprotkb:Q5SQP7|uniprotkb:Q69YI3|uniprotkb:Q86SV0|uniprotkb:Q9H2T8|uniprotkb:A8K2X5|ensembl:ENSP00000338615|ensembl:ENSP00000410474|ensembl:ENSP00000434630|ensembl:ENSP00000436285|uniprotkb:D3DRF5|uniprotkb:Q8IY44|intact:EBI-11742664 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ctbp2_human(display_long)|uniprotkb:CTBP2(gene name)|psi-mi:CTBP2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047296|imex:IM-29110-7 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001077383.1|refseq:NP_001320.1|refseq:NP_073713.2|refseq:NP_001307943.1|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098882"(structural constituent of presynaptic active zone)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0099523"(presynaptic cytosol)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:P56545|rcsb pdb:2OME|rcsb pdb:4LCJ|rcsb pdb:6WKW|reactome:R-HSA-4641265|reactome:R-HSA-5339700|reactome:R-HSA-9662360|go:"GO:0048386"(positive regulation of retinoic acid receptor signaling pathway)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0098684"(photoreceptor ribbon synapse)|ensembl:ENSG00000175029(gene)|ensembl:ENST00000337195(transcript)|ensembl:ENST00000411419(transcript)|ensembl:ENST00000494626(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|ensembl:ENST00000531469(transcript)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016081"(synaptic vesicle docking)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019901"(protein kinase binding)|go:"GO:0035563"(positive regulation of chromatin binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0042974"(retinoic acid receptor binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|refseq:XP_011537653.1|refseq:XP_011537655.1|refseq:XP_011537656.1|refseq:XP_011537657.1|refseq:NP_001307941.1|refseq:NP_001307942.1|refseq:XP_005269618.1|refseq:XP_005269621.1|refseq:XP_005269624.1|refseq:XP_005269625.1|refseq:XP_005269626.1|refseq:XP_005269628.1|refseq:XP_005269629.1|refseq:NP_001277143.1|refseq:NP_001277144.1|refseq:XP_006717705.1|refseq:XP_016871245.1|refseq:XP_016871246.1|dip:DIP-42104N|refseq:XP_011537651.1 intact:EBI-27047860(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6sKiqjMRW/ViEvTbQJoaUjgvZtc9606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation with complex effect:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q13363 uniprotkb:Q96KQ7 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-744366|uniprotkb:B0UZY2|uniprotkb:Q14349|uniprotkb:Q6PK06|uniprotkb:Q96MH5|uniprotkb:Q96QD0|uniprotkb:Q9UQL8|uniprotkb:Q9Y331|uniprotkb:Q5JQ92|uniprotkb:Q5JP83|uniprotkb:Q5JQA1|uniprotkb:Q5JQG3|ensembl:ENSP00000364687|ensembl:ENSP00000372864|ensembl:ENSP00000392305|ensembl:ENSP00000396119|ensembl:ENSP00000406110|ensembl:ENSP00000416957 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ehmt2_human(display_long)|uniprotkb:KMT1C(gene name synonym)|uniprotkb:Histone H3-K9 methyltransferase 3(gene name synonym)|uniprotkb:Euchromatic histone-lysine N-methyltransferase 2(gene name synonym)|uniprotkb:HLA-B-associated transcript 8(gene name synonym)|uniprotkb:Protein G9a(gene name synonym)|uniprotkb:Lysine N-methyltransferase 1C(gene name synonym)|uniprotkb:EHMT2(gene name)|psi-mi:EHMT2(display_short)|uniprotkb:BAT8(gene name synonym)|uniprotkb:G9A(gene name synonym)|uniprotkb:NG36(gene name synonym)|uniprotkb:C6orf30(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047860|imex:IM-29110-11 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_006700.3|refseq:NP_079532.5|interpro:IPR043550|mint:Q96KQ7|rcsb pdb:2O8J|rcsb pdb:3DM1|rcsb pdb:3K5K|rcsb pdb:3RJW|rcsb pdb:4NVQ|rcsb pdb:5JHN|rcsb pdb:5JIN|rcsb pdb:5JIY|rcsb pdb:5JJ0|rcsb pdb:5T0K|rcsb pdb:5T0M|rcsb pdb:5TTF|rcsb pdb:5TUY|rcsb pdb:5V9I|rcsb pdb:5VSC|rcsb pdb:5VSE|rcsb pdb:6MM1|rcsb pdb:7BTV|rcsb pdb:7BUC|rcsb pdb:7DCF|reactome:R-HSA-2559582|reactome:R-HSA-3214841|reactome:R-HSA-427389|reactome:R-HSA-6804760|reactome:R-HSA-73762|reactome:R-HSA-8853884|reactome:R-HSA-8953750|ensembl:ENSG00000204371(gene)|ensembl:ENSG00000206376(gene)|ensembl:ENSG00000227333(gene)|ensembl:ENSG00000232045(gene)|go:"GO:0010424"(DNA methylation on cytosine within a CG sequence)|go:"GO:0016279"(protein-lysine N-methyltransferase activity)|go:"GO:0016571"(histone methylation)|go:"GO:0016607"(nuclear speck)|go:"GO:0018024"(histone-lysine N-methyltransferase activity)|go:"GO:0018027"(peptidyl-lysine dimethylation)|go:"GO:0034968"(histone lysine methylation)|go:"GO:0035265"(organ growth)|go:"GO:0035690"|go:"GO:0036166"(phenotypic switching)|go:"GO:0044030"(regulation of DNA methylation)|go:"GO:0045471"(response to ethanol)|ensembl:ENSG00000236759(gene)|ensembl:ENSG00000238134(gene)|ensembl:ENST00000375537(transcript)|ensembl:ENST00000383373(transcript)|ensembl:ENST00000420336(transcript)|ensembl:ENST00000421926(transcript)|ensembl:ENST00000429506(transcript)|ensembl:ENST00000450075(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0002039"(p53 binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006275"(regulation of DNA replication)|go:"GO:0006306"(DNA methylation)|go:"GO:0007130"(synaptonemal complex assembly)|go:"GO:0007286"(spermatid development)|go:"GO:0007616"(long-term memory)|go:"GO:0008270"(zinc ion binding)|go:"GO:0009267"(cellular response to starvation)|go:"GO:0009566"(fertilization)|go:"GO:0046974"("histone methyltransferase activity (H3-K9 specific)")|go:"GO:0046976"("histone methyltransferase activity (H3-K27 specific)")|go:"GO:0048148"(behavioral response to cocaine)|go:"GO:0048665"(neuron fate specification)|go:"GO:0051569"(regulation of histone H3-K4 methylation)|go:"GO:0051570"(regulation of histone H3-K9 methylation)|go:"GO:0060992"(response to fungicide)|go:"GO:0070742"(C2H2 zinc finger domain binding)|go:"GO:0071314"(cellular response to cocaine)|go:"GO:1902902"(negative regulation of autophagosome assembly)|go:"GO:1990841"(promoter-specific chromatin binding)|interpro:IPR001214(SET)|interpro:IPR002110(Ankyrin)|interpro:IPR007728(Pre-SET zinc-binding region)|interpro:IPR020683|interpro:IPR036770|interpro:IPR038034|refseq:NP_001305762.1|refseq:NP_001276342.1|dip:DIP-34461N intact:EBI-27047296(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:dblr0h0KBVa6kvaDHhnynRuHE6E9606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q13363 uniprotkb:Q9UKL0 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-926563|uniprotkb:Q15044|uniprotkb:Q6P2I9|uniprotkb:Q86VG5|intact:EBI-11087913|uniprotkb:J3KN32|ensembl:ENSP00000262241 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:rcor1_human(display_long)|uniprotkb:RCOR1(gene name)|psi-mi:RCOR1(display_short)|uniprotkb:KIAA0071(gene name synonym)|uniprotkb:RCOR(gene name synonym)|uniprotkb:Protein CoREST(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047860|imex:IM-29110-11 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_055971.2|dip:DIP-35263N|ensembl:ENSG00000089902(gene)|ensembl:ENST00000262241(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016575"(histone deacetylation)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019899"(enzyme binding)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0045654"(positive regulation of megakaryocyte differentiation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:1990391"(DNA repair complex)|interpro:IPR000949(ELM2)|interpro:IPR001005(SANT, DNA-binding)|interpro:IPR009057(Homeodomain-like)|interpro:IPR017884|interpro:IPR017930|mint:Q9UKL0|rcsb pdb:2IW5|rcsb pdb:2UXN|rcsb pdb:2UXX|rcsb pdb:2V1D|rcsb pdb:2X0L|rcsb pdb:2XAF|rcsb pdb:2XAG|rcsb pdb:2XAH|rcsb pdb:2XAJ|rcsb pdb:2XAQ|rcsb pdb:2XAS|rcsb pdb:2Y48|rcsb pdb:3ZMS|rcsb pdb:3ZMT|rcsb pdb:3ZMU|rcsb pdb:3ZMV|rcsb pdb:3ZMZ|rcsb pdb:3ZN0|rcsb pdb:3ZN1|rcsb pdb:4BAY|rcsb pdb:4KUM|rcsb pdb:4UV8|rcsb pdb:4UV9|rcsb pdb:4UVA|rcsb pdb:4UVB|rcsb pdb:4UVC|rcsb pdb:4UXN|rcsb pdb:4XBF|rcsb pdb:5H6Q|rcsb pdb:5H6R|rcsb pdb:5L3B|rcsb pdb:5L3C|rcsb pdb:5L3D|rcsb pdb:5L3E|rcsb pdb:5L3F|rcsb pdb:5L3G|rcsb pdb:5LBQ|rcsb pdb:5LGN|rcsb pdb:5LGT|rcsb pdb:5LGU|rcsb pdb:5LHG|rcsb pdb:5LHH|rcsb pdb:5LHI|rcsb pdb:5X60|rcsb pdb:5YJB|rcsb pdb:6K3E|rcsb pdb:6KGK|rcsb pdb:6KGL|rcsb pdb:6KGM|rcsb pdb:6KGN|rcsb pdb:6S35|rcsb pdb:6TE1|rcsb pdb:6VYP|rcsb pdb:6W4K|rcsb pdb:6WC6|rcsb pdb:7CDC|rcsb pdb:7CDD|rcsb pdb:7CDE|rcsb pdb:7CDF|rcsb pdb:7CDG|reactome:R-HSA-3214815|reactome:R-HSA-8943724|reactome:R-HSA-9679191|reactome:R-HSA-983231 intact:EBI-27047296(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:B1KfnjicGzKdWGnGGrZwjgpMQ309606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q13363 uniprotkb:Q92769 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-301821|uniprotkb:Q5SRI8|uniprotkb:Q5SZ86|uniprotkb:Q8NEH4|uniprotkb:B4DL58|ensembl:ENSP00000430432|uniprotkb:E1P561|uniprotkb:B3KRS5 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:hdac2_human(display_long)|uniprotkb:HDAC2(gene name)|psi-mi:HDAC2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047860|imex:IM-29110-11 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0006338"(chromatin remodeling)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0009913"(epidermal cell differentiation)|go:"GO:0010718"(positive regulation of epithelial to mesenchymal transition)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0016358"(dendrite development)|go:"GO:0016575"(histone deacetylation)|go:"GO:0016580"(Sin3 complex)|go:"GO:0016581"(NuRD complex)|go:"GO:0019213"(deacetylase activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0031000"(response to caffeine)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0032041"("NAD-dependent histone deacetylase activity (H3-K14 specific)")|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032732"(positive regulation of interleukin-1 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032967"(positive regulation of collagen biosynthetic process)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033558"(protein deacetylase activity)|go:"GO:0034605"(cellular response to heat)|go:"GO:0035094"(response to nicotine)|go:"GO:0035098"("ESC/E(Z) complex")|go:"GO:0042220"(response to cocaine)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0042493"|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042733"(embryonic digit morphogenesis)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0043044"|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043392"(negative regulation of DNA binding)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0043565"(sequence-specific DNA binding)|go:"GO:0045347"(negative regulation of MHC class II biosynthetic process)|go:"GO:0045862"(positive regulation of proteolysis)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048149"(behavioral response to ethanol)|go:"GO:0004407"(histone deacetylase activity)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0055093"(response to hyperoxia)|go:"GO:0060789"(hair follicle placode formation)|go:"GO:0061000"(negative regulation of dendritic spine development)|go:"GO:0061029"(eyelid development in camera-type eye)|go:"GO:0061198"(fungiform papilla formation)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0070301"(cellular response to hydrogen peroxide)|go:"GO:0070829"(obsolete heterochromatin maintenance)|go:"GO:0070932"(histone H3 deacetylation)|go:"GO:0070933"(histone H4 deacetylation)|go:"GO:0071300"(cellular response to retinoic acid)|go:"GO:0071560"(cellular response to transforming growth factor beta stimulus)|go:"GO:1902437"(positive regulation of male mating behavior)|go:"GO:1903351"(cellular response to dopamine)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:2000273"(positive regulation of signaling receptor activity)|go:"GO:2000757"(negative regulation of peptidyl-lysine acetylation)|interpro:IPR000286(Histone deacetylase superfamily)|interpro:IPR003084(Histone deacetylase)|interpro:IPR023696|interpro:IPR023801|interpro:IPR037138|mint:Q92769|rcsb pdb:3MAX|rcsb pdb:4LXZ|rcsb pdb:4LY1|rcsb pdb:5IWG|rcsb pdb:5IX0|rcsb pdb:6G3O|rcsb pdb:6WBW|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|ensembl:ENSG00000196591(gene)|ensembl:ENST00000519065(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0001975"(response to amphetamine)|go:"GO:0003300"(cardiac muscle hypertrophy)|go:"GO:0003682"(chromatin binding)|go:"GO:0003723"(RNA binding)|rcsb pdb:6WHN|rcsb pdb:6WHO|rcsb pdb:6WHQ|rcsb pdb:6WHZ|rcsb pdb:6WI3|rcsb pdb:6XDM|rcsb pdb:6XEB|rcsb pdb:6XEC|rcsb pdb:7KBG|rcsb pdb:7KBH|rcsb pdb:7LTG|rcsb pdb:7LTK|rcsb pdb:7LTL|reactome:R-HSA-193670|reactome:R-HSA-2122947|reactome:R-HSA-2644606|reactome:R-HSA-2894862|reactome:R-HSA-3214815|reactome:R-HSA-350054|reactome:R-HSA-427389|reactome:R-HSA-427413|reactome:R-HSA-4551638|reactome:R-HSA-6804758|reactome:R-HSA-73762|reactome:R-HSA-8943724|reactome:R-HSA-9022692|reactome:R-HSA-9022699|reactome:R-HSA-9615017|reactome:R-HSA-9619665|reactome:R-HSA-9679191|reactome:R-HSA-983231|rcsb pdb:6WBZ|refseq:NP_001518.3|dip:DIP-24220N|refseq:XP_011534090.1|refseq:XP_016866288.1 intact:EBI-27047296(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:K4PpGz9E9/TrQZsgvrJuc+uYCn89606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q13363 uniprotkb:O60341 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-710124|uniprotkb:Q5TH94|uniprotkb:Q5TH95|uniprotkb:Q86VT7|uniprotkb:Q8IXK4|uniprotkb:Q8NDP6|uniprotkb:Q8TAZ3|uniprotkb:Q96AW4|ensembl:ENSP00000349049|uniprotkb:A8MWP9 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:kdm1a_human(display_long)|uniprotkb:Flavin-containing amine oxidase domain-containing protein 2(gene name synonym)|uniprotkb:BRAF35-HDAC complex protein BHC110(gene name synonym)|uniprotkb:KDM1A(gene name)|psi-mi:KDM1A(display_short)|uniprotkb:KIAA0601(gene name synonym)|uniprotkb:LSD1(gene name synonym)|uniprotkb:AOF2(gene name synonym)|uniprotkb:KDM1(gene name synonym)|uniprotkb:"[histone H3]-dimethyl-L-lysine(4) FAD-dependent demethylase 1A"(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047860|imex:IM-29110-11 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 go:"GO:0021987"(cerebral cortex development)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032451"(demethylase activity)|refseq:NP_001009999.1|refseq:NP_055828.2|ensembl:ENSG00000004487(gene)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006482"(protein demethylation)|go:"GO:0008134"(transcription factor binding)|go:"GO:0010569"(regulation of double-strand break repair via homologous recombination)|ensembl:ENST00000356634(transcript)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0016491"(oxidoreductase activity)|go:"GO:0019899"(enzyme binding)|go:"GO:0000380"(alternative mRNA splicing, via spliceosome)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000785"(chromatin)|go:"GO:0002039"(p53 binding)|go:"GO:0002052"(positive regulation of neuroblast proliferation)|go:"GO:0003682"(chromatin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|dip:DIP-34641N|go:"GO:0032452"(histone demethylase activity)|go:"GO:0032453"(histone H3-methyl-lysine-4 demethylase activity)|go:"GO:0032454"(histone H3-methyl-lysine-9 demethylase activity)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033169"(histone H3-K9 demethylation)|go:"GO:0033184"(positive regulation of histone ubiquitination)|go:"GO:0034644"(cellular response to UV)|go:"GO:0034648"("obsolete histone demethylase activity (H3-dimethyl-K4 specific)")|go:"GO:0034720"(histone H3-K4 demethylation)|go:"GO:0035563"(positive regulation of chromatin binding)|go:"GO:0042551"(neuron maturation)|go:"GO:0043392"(negative regulation of DNA binding)|go:"GO:0043426"(MRF binding)|go:"GO:0043433"(negative regulation of DNA-binding transcription factor activity)|go:"GO:0043518"(negative regulation of DNA damage response, signal transduction by p53 class mediator)|go:"GO:0045793"(positive regulation of cell size)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046098"(guanine metabolic process)|go:"GO:0050660"(flavin adenine dinucleotide binding)|go:"GO:0050681"(androgen receptor binding)|go:"GO:0051091"(positive regulation of DNA-binding transcription factor activity)|go:"GO:0051572"(negative regulation of histone H3-K4 methylation)|go:"GO:0051573"(negative regulation of histone H3-K9 methylation)|go:"GO:0055001"(muscle cell development)|go:"GO:0060765"(regulation of androgen receptor signaling pathway)|go:"GO:0060992"(response to fungicide)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0061752"(telomeric repeat-containing RNA binding)|go:"GO:0071320"(cellular response to cAMP)|go:"GO:0071480"(cellular response to gamma radiation)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|go:"GO:1902166"(negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator)|go:"GO:1903827"|go:"GO:1990391"(DNA repair complex)|go:"GO:1990841"(promoter-specific chromatin binding)|go:"GO:2000179"(positive regulation of neural precursor cell proliferation)|go:"GO:2000648"(positive regulation of stem cell proliferation)|interpro:IPR002937(Amine oxidase)|interpro:IPR007526(SWIRM)|interpro:IPR009057(Homeodomain-like)|interpro:IPR017366(Histone lysine-specific demethylase)|interpro:IPR036188|interpro:IPR036388|mint:O60341|rcsb pdb:2COM|rcsb pdb:2DW4|rcsb pdb:2EJR|rcsb pdb:2H94|rcsb pdb:2HKO|rcsb pdb:2IW5|rcsb pdb:2L3D|rcsb pdb:2UXN|rcsb pdb:2UXX|rcsb pdb:2V1D|rcsb pdb:2X0L|rcsb pdb:2XAF|rcsb pdb:2XAG|rcsb pdb:2XAH|rcsb pdb:2XAJ|rcsb pdb:2XAQ|rcsb pdb:2XAS|rcsb pdb:2Y48|rcsb pdb:2Z3Y|rcsb pdb:2Z5U|rcsb pdb:3ABT|rcsb pdb:3ABU|rcsb pdb:3ZMS|rcsb pdb:3ZMT|rcsb pdb:3ZMU|rcsb pdb:3ZMV|rcsb pdb:3ZMZ|rcsb pdb:3ZN0|rcsb pdb:3ZN1|rcsb pdb:4BAY|rcsb pdb:4CZZ|rcsb pdb:4KUM|rcsb pdb:4UV8|rcsb pdb:4UV9|rcsb pdb:4UVA|rcsb pdb:4UVB|rcsb pdb:4UVC|rcsb pdb:4UXN|rcsb pdb:4XBF|rcsb pdb:5AFW|rcsb pdb:5H6Q|rcsb pdb:5H6R|rcsb pdb:5IT3|rcsb pdb:5L3B|rcsb pdb:5L3C|rcsb pdb:5L3D|rcsb pdb:5L3E|rcsb pdb:5L3F|rcsb pdb:5L3G|rcsb pdb:5LBQ|rcsb pdb:5LGN|rcsb pdb:5LGT|rcsb pdb:5LGU|rcsb pdb:5LHG|rcsb pdb:5LHH|rcsb pdb:5LHI|rcsb pdb:5X60|rcsb pdb:5YJB|rcsb pdb:6E1F|rcsb pdb:6K3E|rcsb pdb:6KGK|rcsb pdb:6KGL|rcsb pdb:6KGM|rcsb pdb:6KGN|rcsb pdb:6KGO|rcsb pdb:6KGP|rcsb pdb:6KGQ|rcsb pdb:6KGR|rcsb pdb:6NQM|rcsb pdb:6NQU|rcsb pdb:6NR5|rcsb pdb:6S35|rcsb pdb:6TE1|rcsb pdb:6VYP|rcsb pdb:6W4K|rcsb pdb:6WC6|rcsb pdb:7CDC|rcsb pdb:7CDD|rcsb pdb:7CDE|rcsb pdb:7CDF|rcsb pdb:7CDG|rcsb pdb:7E0G|rcsb pdb:7JJL|rcsb pdb:7JJM|rcsb pdb:7JK7|reactome:R-HSA-3214815|reactome:R-HSA-3214842|reactome:R-HSA-5625886|reactome:R-HSA-8943724|reactome:R-HSA-9018519|reactome:R-HSA-9029569|reactome:R-HSA-9679191|reactome:R-HSA-983231 intact:EBI-27047296(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:rS9F23Rg1Ha6XOQSisWQfhKVFfs9606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q13363 uniprotkb:P37275 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-2849734|uniprotkb:Q12924|uniprotkb:Q5T968|uniprotkb:Q13800|uniprotkb:Q2KJ05|uniprotkb:B4DJV0|uniprotkb:B4DUW9|uniprotkb:E9PCM7|uniprotkb:F5H4I8|uniprotkb:Q5VZ84|uniprotkb:Q8NB68|intact:EBI-11153310|ensembl:ENSP00000319248 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zeb1_human(display_long)|uniprotkb:ZEB1(gene name)|psi-mi:ZEB1(display_short)|uniprotkb:AREB6(gene name synonym)|uniprotkb:TCF8(gene name synonym)|uniprotkb:NIL-2-A zinc finger protein(gene name synonym)|uniprotkb:Negative regulator of IL2(gene name synonym)|uniprotkb:Transcription factor 8(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047860|imex:IM-29110-11 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001121600.1|refseq:NP_001167565.1|refseq:NP_001167566.1|refseq:NP_110378.3|refseq:NP_001167564.1|refseq:NP_001167567.1|ensembl:ENSG00000148516(gene)|ensembl:ENST00000320985(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000785"(chromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0007399"(nervous system development)|go:"GO:0008270"(zinc ion binding)|go:"GO:0030154"(cell differentiation)|go:"GO:0045602"(negative regulation of endothelial cell differentiation)|go:"GO:0045666"(positive regulation of neuron differentiation)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0048856"(anatomical structure development)|go:"GO:0070888"(E-box binding)|interpro:IPR001356(Homeobox)|interpro:IPR008598(Drought induced 19)|interpro:IPR009057(Homeodomain-like)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|rcsb pdb:2E19|reactome:R-HSA-6785807|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific) intact:EBI-27047296(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:2QwbT74tbgA6Jec85fGMRYg0EBI9606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q13363 uniprotkb:O75362 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-6597704|ensembl:ENSP00000304308|ensembl:ENSP00000360526|uniprotkb:E1P5Y6|uniprotkb:Q14DB8 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:zn217_human(display_long)|uniprotkb:ZNF217(gene name)|psi-mi:ZNF217(display_short)|uniprotkb:ZABC1(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047860|imex:IM-29110-11 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 ensembl:ENSG00000171940(gene)|ensembl:ENST00000302342(transcript)|ensembl:ENST00000371471(transcript)|go:"GO:0000118"(histone deacetylase complex)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000976"(transcription cis-regulatory region binding)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0000981"(DNA-binding transcription factor activity, RNA polymerase II-specific)|go:"GO:0001227"(DNA-binding transcription repressor activity, RNA polymerase II-specific)|go:"GO:0003700"(DNA-binding transcription factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0016607"(nuclear speck)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|rcsb pdb:2HU2|rcsb pdb:3UK3|rcsb pdb:4F2J|rcsb pdb:4IS1|reactome:R-HSA-9018519|refseq:NP_006517.1|refseq:XP_016883548.1 intact:EBI-27047296(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:E65TwYRj7QeQtQbTWV8q91QlwQk9606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q13363 uniprotkb:P56545 intact:EBI-908846|uniprotkb:Q4W5N3|uniprotkb:Q7Z2Q5|ensembl:ENSP00000290921 intact:EBI-741533|uniprotkb:O43449|uniprotkb:Q5SQP7|uniprotkb:Q69YI3|uniprotkb:Q86SV0|uniprotkb:Q9H2T8|uniprotkb:A8K2X5|ensembl:ENSP00000338615|ensembl:ENSP00000410474|ensembl:ENSP00000434630|ensembl:ENSP00000436285|uniprotkb:D3DRF5|uniprotkb:Q8IY44|intact:EBI-11742664 psi-mi:ctbp1_human(display_long)|uniprotkb:CTBP1(gene name)|psi-mi:CTBP1(display_short)|uniprotkb:CTBP(gene name synonym) psi-mi:ctbp2_human(display_long)|uniprotkb:CTBP2(gene name)|psi-mi:CTBP2(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Beck et al. (2019) pubmed:31041561|imex:IM-29110 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-27047860|imex:IM-29110-11 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001012632.1|refseq:NP_001319.1|refseq:XP_016863253.1|refseq:XP_016863254.1|refseq:XP_016863255.1|refseq:XP_016863256.1|dip:DIP-24245N|ensembl:ENSG00000159692(gene)|ensembl:ENST00000290921(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006342"|go:"GO:0006468"(protein phosphorylation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0035067"(negative regulation of histone acetylation)|go:"GO:0042802"(identical protein binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0090241"(negative regulation of histone H4 acetylation)|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0140297"(DNA-binding transcription factor binding)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029752|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:Q13363|rcsb pdb:1MX3|rcsb pdb:4LCE|rcsb pdb:4U6Q|rcsb pdb:4U6S|rcsb pdb:6CDF|rcsb pdb:6CDR|rcsb pdb:6V89|rcsb pdb:6V8A|rcsb pdb:7KWM|reactome:R-HSA-3769402|reactome:R-HSA-3899300|reactome:R-HSA-4641265|reactome:R-HSA-5339700 refseq:NP_001077383.1|refseq:NP_001320.1|refseq:NP_073713.2|refseq:NP_001307943.1|go:"GO:0098831"(presynaptic active zone cytoplasmic component)|go:"GO:0098882"(structural constituent of presynaptic active zone)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0099523"(presynaptic cytosol)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|interpro:IPR006139(D-isomer specific 2-hydroxyacid dehydrogenase, catalytic region)|interpro:IPR006140(D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding)|interpro:IPR029753|interpro:IPR036291|interpro:IPR043322|mint:P56545|rcsb pdb:2OME|rcsb pdb:4LCJ|rcsb pdb:6WKW|reactome:R-HSA-4641265|reactome:R-HSA-5339700|reactome:R-HSA-9662360|go:"GO:0048386"(positive regulation of retinoic acid receptor signaling pathway)|go:"GO:0050872"(white fat cell differentiation)|go:"GO:0051287"(NAD binding)|go:"GO:0098684"(photoreceptor ribbon synapse)|ensembl:ENSG00000175029(gene)|ensembl:ENST00000337195(transcript)|ensembl:ENST00000411419(transcript)|ensembl:ENST00000494626(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001222"(transcription corepressor binding)|go:"GO:0003682"(chromatin binding)|ensembl:ENST00000531469(transcript)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016081"(synaptic vesicle docking)|go:"GO:0016616"(oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0019079"(viral genome replication)|go:"GO:0019901"(protein kinase binding)|go:"GO:0035563"(positive regulation of chromatin binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0042974"(retinoic acid receptor binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|refseq:XP_011537653.1|refseq:XP_011537655.1|refseq:XP_011537656.1|refseq:XP_011537657.1|refseq:NP_001307941.1|refseq:NP_001307942.1|refseq:XP_005269618.1|refseq:XP_005269621.1|refseq:XP_005269624.1|refseq:XP_005269625.1|refseq:XP_005269626.1|refseq:XP_005269628.1|refseq:XP_005269629.1|refseq:NP_001277143.1|refseq:NP_001277144.1|refseq:XP_006717705.1|refseq:XP_016871245.1|refseq:XP_016871246.1|dip:DIP-42104N|refseq:XP_011537651.1 intact:EBI-27047296(see-also) - - figure legend:3a|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-u373_mg)|taxid:9606(Human glioblastoma astrocytoma) - 2021/07/23 2021/07/27 rogid:hhYGrtcr0oAQW5x5LfNmxfuRNj49606 rogid:6sKiqjMRW/ViEvTbQJoaUjgvZtc9606 rigid:9dzFs7A+mQT2SfnI02XfjzN14RM false flag tag:?-?|mutation:342-342(rs869320802) - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot)