#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:Q6ZNJ1 uniprotkb:Q08AM6 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q7Z6Z7 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-625934|uniprotkb:O15029|uniprotkb:Q4G2Z2|uniprotkb:Q5H961|uniprotkb:Q6P4D0|uniprotkb:Q8NG67|uniprotkb:Q9BUI0|uniprotkb:Q9HCJ4|uniprotkb:Q9NSL6|uniprotkb:Q9P0A9|ensembl:ENSP00000262854|ensembl:ENSP00000340648 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:huwe1_human(display_long)|uniprotkb:HECT, UBA and WWE domain-containing protein 1(gene name synonym)|uniprotkb:Upstream regulatory element-binding protein 1(gene name synonym)|uniprotkb:Mcl-1 ubiquitin ligase E3(gene name synonym)|uniprotkb:ARF-binding protein 1(gene name synonym)|uniprotkb:Large structure of UREB1(gene name synonym)|uniprotkb:Homologous to E6AP carboxyl terminus homologous protein 9(gene name synonym)|uniprotkb:HUWE1(gene name)|psi-mi:HUWE1(display_short)|uniprotkb:KIAA0312(gene name synonym)|uniprotkb:KIAA1578(gene name synonym)|uniprotkb:HSPC272(orf name)|uniprotkb:HECT-type E3 ubiquitin transferase HUWE1(gene name synonym)|uniprotkb:UREB1(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000086758(gene)|ensembl:ENST00000262854(transcript)|ensembl:ENST00000342160(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000209"(protein polyubiquitination)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0004842"(ubiquitin-protein transferase activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006284"(base-excision repair)|go:"GO:0006513"(protein monoubiquitination)|go:"GO:0007030"(Golgi organization)|go:"GO:0010637"(negative regulation of mitochondrial fusion)|go:"GO:0016020"(membrane)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0016574"(histone ubiquitination)|go:"GO:0030154"(cell differentiation)|go:"GO:0031398"(positive regulation of protein ubiquitination)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0034774"(secretory granule lumen)|go:"GO:0043161"(proteasome-mediated ubiquitin-dependent protein catabolic process)|go:"GO:0045732"(positive regulation of protein catabolic process)|go:"GO:0061630"(ubiquitin protein ligase activity)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098779"(positive regulation of mitophagy in response to mitochondrial depolarization)|go:"GO:1903955"(positive regulation of protein targeting to mitochondrion)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR000569(HECT)|interpro:IPR004170(WWE)|interpro:IPR009060(UBA-like)|interpro:IPR010309(E3 ubiquitin ligase, region of unknown function DUF908)|interpro:IPR010314(E3 ubiquitin ligase, region of unknown function DUF913)|interpro:IPR015940(Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR025527|interpro:IPR035983|interpro:IPR037197|interpro:IPR041918|mint:Q7Z6Z7|rcsb pdb:2EKK|rcsb pdb:2MUL|rcsb pdb:3G1N|go:"GO:0061025"(membrane fusion)|rcsb pdb:5C6H|rcsb pdb:5LP8|rcsb pdb:6FYH|rcsb pdb:6MIW|rcsb pdb:6PFL|reactome:R-HSA-6798695|rcsb pdb:3H1D|reactome:R-HSA-983168|refseq:NP_113584.3|refseq:XP_005262022.1|dip:DIP-34362N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:TnIn0mcFc81bJlMkyWTtq3n/uOg9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9UKV8 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-528269|uniprotkb:Q8TCZ5|uniprotkb:Q8WV58|uniprotkb:Q96ID1|ensembl:ENSP00000220592 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ago2_human(display_long)|uniprotkb:AGO2(gene name)|psi-mi:AGO2(display_short)|uniprotkb:Argonaute RISC catalytic component 2(gene name synonym)|uniprotkb:EIF2C2(gene name synonym)|uniprotkb:Eukaryotic translation initiation factor 2C 2(gene name synonym)|uniprotkb:PAZ Piwi domain protein(gene name synonym)|uniprotkb:Protein slicer(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001158095.1|refseq:NP_036286.2|rcsb pdb:5T7B|rcsb pdb:5WEA|rcsb pdb:6CBD|rcsb pdb:6MDZ|rcsb pdb:6MFN|rcsb pdb:6MFR|rcsb pdb:6N4O|rcsb pdb:6NIT|rcsb pdb:6RA4|rcsb pdb:7C6B|rcsb pdb:7D7U|reactome:R-HSA-1912408|reactome:R-HSA-203927|reactome:R-HSA-4086398|reactome:R-HSA-426486|reactome:R-HSA-426496|reactome:R-HSA-5578749|reactome:R-HSA-5628897|reactome:R-HSA-5687128|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|rcsb pdb:4F3T|rcsb pdb:4OLA|rcsb pdb:4OLB|rcsb pdb:4W5N|rcsb pdb:4W5O|rcsb pdb:4W5Q|rcsb pdb:4W5R|rcsb pdb:4W5T|rcsb pdb:4Z4C|rcsb pdb:4Z4D|rcsb pdb:4Z4E|rcsb pdb:4Z4F|rcsb pdb:4Z4G|rcsb pdb:4Z4H|rcsb pdb:4Z4I|rcsb pdb:5JS1|rcsb pdb:3QX9|rcsb pdb:5JS2|rcsb pdb:5KI6|ensembl:ENSG00000123908(gene)|ensembl:ENST00000220592(transcript)|go:"GO:0000340"(RNA 7-methylguanosine cap binding)|go:"GO:0000932"(P-body)|go:"GO:0000993"(RNA polymerase II complex binding)|go:"GO:0001046"(core promoter sequence-specific DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0003727"(single-stranded RNA binding)|go:"GO:0003743"(translation initiation factor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0004521"(endoribonuclease activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0005845"(mRNA cap binding complex)|go:"GO:0006412"(translation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0009791"(post-embryonic development)|go:"GO:0010501"(RNA secondary structure unwinding)|go:"GO:0010586"(miRNA metabolic process)|go:"GO:0016020"(membrane)|go:"GO:0016442"(RISC complex)|go:"GO:0030425"(dendrite)|go:"GO:0031047"(gene silencing by RNA)|go:"GO:0031054"(pre-miRNA processing)|go:"GO:0035087"(siRNA loading onto RISC involved in RNA interference)|go:"GO:0035194"(post-transcriptional gene silencing by RNA)|go:"GO:0035196"(production of miRNAs involved in gene silencing by miRNA)|go:"GO:0035197"(siRNA binding)|go:"GO:0035198"(miRNA binding)|go:"GO:0035278"(miRNA-mediated gene silencing by inhibition of translation)|go:"GO:0035279"(miRNA-mediated gene silencing by mRNA destabilization)|go:"GO:0035280"(miRNA loading onto RISC)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042985"(negative regulation of amyloid precursor protein biosynthetic process)|go:"GO:0045766"(positive regulation of angiogenesis)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0045947"(negative regulation of translational initiation)|go:"GO:0045975"(positive regulation of translation, ncRNA-mediated)|go:"GO:0046872"(metal ion binding)|go:"GO:0060213"("positive regulation of nuclear-transcribed mRNA poly(A) tail shortening")|go:"GO:0070062"(extracellular exosome)|go:"GO:0070551"(endoribonuclease activity, cleaving siRNA-paired mRNA)|go:"GO:0070578"(RISC-loading complex)|go:"GO:0090624"(endoribonuclease activity, cleaving miRNA-paired mRNA)|go:"GO:0090625"(mRNA destabilization-mediated gene silencing by siRNA)|go:"GO:0098808"(mRNA cap binding)|go:"GO:1900153"(positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay)|go:"GO:1901165"(positive regulation of trophoblast cell migration)|go:"GO:1905618"(positive regulation of miRNA-mediated gene silencing by inhibition of translation)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR003100(Argonaute and Dicer protein, PAZ)|interpro:IPR003165(Stem cell self-renewal protein Piwi)|interpro:IPR012337(Polynucleotidyl transferase, Ribonuclease H fold)|interpro:IPR014811(Region of unknown function DUF1785)|interpro:IPR028602|interpro:IPR032472|interpro:IPR032473|interpro:IPR032474|interpro:IPR036085|interpro:IPR036397|mint:Q9UKV8|rcsb pdb:3LUC|rcsb pdb:3LUD|rcsb pdb:3LUG|rcsb pdb:3LUH|rcsb pdb:3LUJ|rcsb pdb:3LUK|rcsb pdb:3QX8|dip:DIP-29194N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:8GU8wsz9kTG2ViT7pP7uQyYTVsc9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9UQM7 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1383687|uniprotkb:Q9UL21|uniprotkb:Q9Y2H4|uniprotkb:Q9Y352|ensembl:ENSP00000261793|ensembl:ENSP00000500642 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:kcc2a_human(display_long)|uniprotkb:CAMK2A(gene name)|psi-mi:CAMK2A(display_short)|uniprotkb:CAMKA(gene name synonym)|uniprotkb:KIAA0968(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_741960.1|ensembl:ENSG00000070808(gene)|ensembl:ENST00000348628(transcript)|ensembl:ENST00000672479(transcript)|go:"GO:0000082"(G1/S transition of mitotic cell cycle)|go:"GO:0002931"(response to ischemia)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0004683"(calmodulin-dependent protein kinase activity)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|go:"GO:0005954"(calcium- and calmodulin-dependent protein kinase complex)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0006816"(calcium ion transport)|go:"GO:0009931"(calcium-dependent protein serine/threonine kinase activity)|go:"GO:0010666"(positive regulation of cardiac muscle cell apoptotic process)|go:"GO:0014069"(postsynaptic density)|go:"GO:0018105"(peptidyl-serine phosphorylation)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0035254"(glutamate receptor binding)|go:"GO:0038166"(angiotensin-activated signaling pathway)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043005"(neuron projection)|go:"GO:0043197"(dendritic spine)|go:"GO:0046777"(protein autophosphorylation)|go:"GO:0046872"(metal ion binding)|go:"GO:0046928"(regulation of neurotransmitter secretion)|go:"GO:0048168"(regulation of neuronal synaptic plasticity)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051346"(negative regulation of hydrolase activity)|go:"GO:0051928"(positive regulation of calcium ion transport)|go:"GO:0060996"(dendritic spine development)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|go:"GO:1902108"(regulation of mitochondrial membrane permeability involved in apoptotic process)|go:"GO:1990443"(peptidyl-threonine autophosphorylation)|go:"GO:2000124"(regulation of endocannabinoid signaling pathway)|go:"GO:2001222"(regulation of neuron migration)|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|mint:Q9UQM7|rcsb pdb:2VZ6|rcsb pdb:3SOA|rcsb pdb:5IG3|rcsb pdb:6OF8|rcsb pdb:6VZK|rcsb pdb:6W4O|rcsb pdb:6W4P|rcsb pdb:6X5G|rcsb pdb:6X5Q|rcsb pdb:6X8V|rcsb pdb:6XBP|rcsb pdb:6XBX|rcsb pdb:6XDL|rcsb pdb:6XDU|rcsb pdb:6XF0|rcsb pdb:6XOE|rcsb pdb:7KL0|rcsb pdb:7KL1|rcsb pdb:7KL2|rcsb pdb:7KL4|reactome:R-HSA-111932|reactome:R-HSA-3371571|reactome:R-HSA-399719|reactome:R-HSA-4086398|reactome:R-HSA-438066|reactome:R-HSA-442982|reactome:R-HSA-5576892|reactome:R-HSA-5578775|reactome:R-HSA-5673000|reactome:R-HSA-5673001|reactome:R-HSA-6802946|go:"GO:0016301"(kinase activity)|reactome:R-HSA-6802952|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|reactome:R-HSA-6802955|dip:DIP-39705N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:7uql+9kLfmK9drY5L0oKOH7zPk49606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q5BKZ1 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2560158|uniprotkb:Q6NSA2|uniprotkb:B4DLN0|uniprotkb:Q7Z638|uniprotkb:Q7Z6C2|uniprotkb:Q5VW97|uniprotkb:Q5VW96|uniprotkb:Q5VW94|uniprotkb:Q5VW93|ensembl:ENSP00000340796|uniprotkb:A8MYX1|uniprotkb:B4E179 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:zn326_human(display_long)|uniprotkb:ZNF326(gene name)|psi-mi:ZNF326(display_short)|uniprotkb:ZIRD(gene name synonym)|uniprotkb:Zinc finger protein 326(gene name synonym)|uniprotkb:Zinc finger protein interacting with mRNPs and DBC1(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_892020.1|refseq:NP_892021.1|refseq:XP_011539592.1|ensembl:ENSG00000162664(gene)|ensembl:ENST00000340281(transcript)|go:"GO:0000993"(RNA polymerase II complex binding)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006397"(mRNA processing)|go:"GO:0008380"(RNA splicing)|go:"GO:0016363"(nuclear matrix)|go:"GO:0032784"(regulation of DNA-templated transcription, elongation)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043484"(regulation of RNA splicing)|go:"GO:0044609"(DBIRD complex)|go:"GO:0046872"(metal ion binding)|interpro:IPR007071("A-kinase anchoring protein 95 (AKAP95)")|interpro:IPR034736|mint:Q5BKZ1|refseq:XP_005270836.1|refseq:NP_001307114.1|refseq:NP_861446.2 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:y4ZeI0cWMpNA2nQN/hDk6Zn7XRA9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q5VUA4 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2849257|uniprotkb:Q8NEM6|uniprotkb:Q9UNU8|uniprotkb:Q4G0E4|uniprotkb:O94796|uniprotkb:Q9Y2W9|intact:EBI-28976662|ensembl:ENSP00000354964 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:zn318_human(display_long)|uniprotkb:ZNF318(gene name)|psi-mi:ZNF318(display_short)|uniprotkb:Endocrine regulatory protein(gene name synonym)|uniprotkb:HRIHFB2436(orf name) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSP00000354964|ensembl:ENST00000605935|ensembl:ENSP00000475748|refseq:XP_011512754.1|refseq:NP_055160.2|ensembl:ENSG00000171467(gene)|ensembl:ENST00000361428(transcript)|go:"GO:0003676"(nucleic acid binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0008270"(zinc ion binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0051321"(meiotic cell cycle)|interpro:IPR003604(Zinc finger, U1-type) - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:HqHWYB1s5uaauSljuYFDb3/6XB49606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q96KR1 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2513582|ensembl:ENSP00000265069|uniprotkb:Q9Y687|uniprotkb:Q6P5A3|uniprotkb:B2RNR5|uniprotkb:Q9H6V4|uniprotkb:Q3B7X5|uniprotkb:Q05C08|uniprotkb:Q9NTI1|uniprotkb:Q86UA0|intact:EBI-2560216 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:zfr_human(display_long)|uniprotkb:ZFR(gene name)|psi-mi:ZFR(display_short)|uniprotkb:M-phase phosphoprotein homolog(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000056097(gene)|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:0005634"(nucleus)|go:"GO:0005694"(chromosome)|go:"GO:0005737"(cytoplasm)|go:"GO:0008270"(zinc ion binding)|interpro:IPR003604(Zinc finger, U1-type)|interpro:IPR006561(DZF)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR036236|interpro:IPR043519|mint:Q96KR1|ensembl:ENST00000265069(transcript)|refseq:NP_057191.2|ensembl:ENSP00000265069|dip:DIP-47293N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:UQQP+tkUcQYka9ez6rMv2F6FXFM9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q7Z2W4 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-922540|uniprotkb:Q8TAJ3|uniprotkb:Q96N79|uniprotkb:Q9H8R9|uniprotkb:Q9P0Y7|uniprotkb:Q8IW57|uniprotkb:A4D1R2|uniprotkb:A4D1S4|ensembl:ENSP00000242351 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:zcchv_human(display_long)|uniprotkb:Inactive Poly [ADP-ribose] polymerase 13(gene name synonym)|uniprotkb:ZC3HAV1(gene name)|psi-mi:ZC3HAV1(display_short)|uniprotkb:ZC3HDC2(gene name synonym)|uniprotkb:PRO1677(orf name)|uniprotkb:Zinc finger CCCH domain-containing protein 2(gene name synonym)|uniprotkb:Zinc finger antiviral protein(gene name synonym)|uniprotkb:ADP-ribosyltransferase diphtheria toxin-like 13(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_064504.2|refseq:NP_078901.3|ensembl:ENSG00000105939(gene)|ensembl:ENST00000242351(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006471"(protein ADP-ribosylation)|go:"GO:0009615"(response to virus)|go:"GO:0032727"(positive regulation of interferon-alpha production)|go:"GO:0032728"(positive regulation of interferon-beta production)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0045071"(negative regulation of viral genome replication)|go:"GO:0045087"(innate immune response)|go:"GO:0045296"(cadherin binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0051607"(defense response to virus)|go:"GO:0061014"(positive regulation of mRNA catabolic process)|go:"GO:1900246"(positive regulation of RIG-I signaling pathway)|interpro:IPR000571(Zinc finger, CCCH-type)|interpro:IPR004170(WWE)|interpro:IPR012317("Poly(ADP-ribose) polymerase, catalytic region")|interpro:IPR036388|interpro:IPR037197|interpro:IPR040954|interpro:IPR041360|mint:Q7Z2W4|rcsb pdb:2X5Y|rcsb pdb:4X52|rcsb pdb:6UEI|rcsb pdb:6UEJ|reactome:R-HSA-6802952|dip:DIP-37896N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:iJy4W/YX/vVXGbFd+GnfoKlo8aA9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9Y5A9 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2878081|uniprotkb:B4E1G7|uniprotkb:A6NKG4|uniprotkb:Q5VSZ9|uniprotkb:Q8TDH0|uniprotkb:Q9BUJ5|uniprotkb:A8K966|uniprotkb:D3DPM8|ensembl:ENSP00000362918|ensembl:ENSP00000444660 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ythd2_human(display_long)|uniprotkb:HGRG8(gene name synonym)|uniprotkb:CLL-associated antigen KW-14(gene name synonym)|uniprotkb:High-glucose-regulated protein 8(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-2(gene name synonym)|uniprotkb:YTHDF2(gene name)|psi-mi:YTHDF2(display_short) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001166299.1|refseq:NP_001166599.1|refseq:NP_057342.2|ensembl:ENSG00000198492(gene)|ensembl:ENST00000373812(transcript)|ensembl:ENST00000542507(transcript)|go:"GO:0000932"(P-body)|go:"GO:0001556"(oocyte maturation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006402"(mRNA catabolic process)|go:"GO:0006959"(humoral immune response)|go:"GO:0007049"(cell cycle)|go:"GO:0007276"(gamete generation)|go:"GO:0007284"(spermatogonial cell division)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0030155"(regulation of cell adhesion)|go:"GO:0034063"(stress granule assembly)|go:"GO:0034451"(centriolar satellite)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0045087"(innate immune response)|go:"GO:0045746"(negative regulation of Notch signaling pathway)|go:"GO:0048598"(embryonic morphogenesis)|go:"GO:0050767"(regulation of neurogenesis)|go:"GO:0060339"(negative regulation of type I interferon-mediated signaling pathway)|go:"GO:0061157"(mRNA destabilization)|go:"GO:0062153"(C5-methylcytidine-containing RNA binding)|go:"GO:0070925"(organelle assembly)|go:"GO:0071425"(hematopoietic stem cell proliferation)|go:"GO:0098508"(endothelial to hematopoietic transition)|go:"GO:1902036"(regulation of hematopoietic stem cell differentiation)|go:"GO:1903538"(regulation of meiotic cell cycle process involved in oocyte maturation)|go:"GO:1903679"(positive regulation of cap-independent translational initiation)|go:"GO:1990247"(N6-methyladenosine-containing RNA binding)|go:"GO:2000232"(regulation of rRNA processing)|go:"GO:2000737"(negative regulation of stem cell differentiation)|interpro:IPR007275(YT521-B-like protein)|mint:Q9Y5A9|rcsb pdb:4RDO|rcsb pdb:4WQN|rcsb pdb:4RDN - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:PF4C2t/728HqnrTyBQDJydH0G709606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P49750 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-712871|ensembl:ENSP00000324463|uniprotkb:P49752|uniprotkb:Q96I64|uniprotkb:Q9P1V7 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ylpm1_human(display_long)|uniprotkb:Nuclear protein ZAP3(gene name synonym)|uniprotkb:ZAP113(gene name synonym)|uniprotkb:YLPM1(gene name)|psi-mi:YLPM1(display_short)|uniprotkb:C14orf170(gene name synonym)|uniprotkb:ZAP3(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000119596(gene)|ensembl:ENST00000325680(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0016607"(nuclear speck)|go:"GO:0032204"(regulation of telomere maintenance)|interpro:IPR026314|interpro:IPR027417|refseq:NP_062535.2|ensembl:ENSP00000324463|dip:DIP-53676N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:3w+7odPC5D2UQYimwmCgTBbvWR49606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P16989 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-358193|uniprotkb:Q14121|uniprotkb:Q969N6|uniprotkb:Q96B76|uniprotkb:B2RBW6|intact:EBI-2560381|ensembl:ENSP00000228251 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ybox3_human(display_long)|uniprotkb:YBX3(gene name)|psi-mi:YBX3(display_short)|uniprotkb:CSDA(gene name synonym)|uniprotkb:Cold shock domain-containing protein A(gene name synonym)|uniprotkb:DBPA(gene name synonym)|uniprotkb:DNA-binding protein A(gene name synonym)|uniprotkb:Single-strand DNA-binding protein NF-GMB(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 go:"GO:0046622"(positive regulation of organ growth)|refseq:NP_001138898.1|refseq:NP_003642.3|dip:DIP-42489N|ensembl:ENSG00000060138(gene)|ensembl:ENST00000228251(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:0001701"(in utero embryonic development)|go:"GO:0003676"(nucleic acid binding)|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:0005923"(bicellular tight junction)|go:"GO:0007283"(spermatogenesis)|go:"GO:0008584"(male gonad development)|go:"GO:0009566"(fertilization)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0031267"(small GTPase binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048642"(negative regulation of skeletal muscle tissue development)|go:"GO:0060546"(negative regulation of necroptotic process)|go:"GO:0070935"(3'-UTR-mediated mRNA stabilization)|go:"GO:0071356"(cellular response to tumor necrosis factor)|go:"GO:0071474"(cellular hyperosmotic response)|go:"GO:1902219"(negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress)|go:"GO:1905538"(polysome binding)|go:"GO:2000767"(positive regulation of cytoplasmic translation)|interpro:IPR002059(Cold-shock protein, DNA-binding)|interpro:IPR011129(Cold shock protein)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR019844|mint:P16989 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:cWuhmwOBWe5HdgPG1gyN7KzN4Rs9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q92900 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-373471|uniprotkb:O00239|uniprotkb:O43343|uniprotkb:Q86Z25|uniprotkb:Q92842|ensembl:ENSP00000470142 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:ORqXFPAa7qA8cwM5qcNodIF0q/s9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O95071 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-358329|uniprotkb:O94970|uniprotkb:Q9NPL3|ensembl:ENSP00000429084|uniprotkb:B2RP24|intact:EBI-10967451|uniprotkb:J3KMW7 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ubr5_human(display_long)|uniprotkb:UBR5(gene name)|psi-mi:UBR5(display_short)|uniprotkb:HYD(gene name synonym)|uniprotkb:KIAA0896(gene name synonym)|uniprotkb:EDD(gene name synonym)|uniprotkb:EDD1(gene name synonym)|uniprotkb:E3 ubiquitin-protein ligase, HECT domain-containing 1(gene name synonym)|uniprotkb:Hyperplastic discs protein homolog(gene name synonym)|uniprotkb:Progestin-induced protein(gene name synonym)|uniprotkb:HECT-type E3 ubiquitin transferase UBR5(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001269802.1|ensembl:ENST00000520539(transcript)|go:"GO:0000209"(protein polyubiquitination)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006281"(DNA repair)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0008270"(zinc ion binding)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034450"(ubiquitin-ubiquitin ligase activity)|go:"GO:0042307"(positive regulation of protein import into nucleus)|go:"GO:0043130"(ubiquitin binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050847"(progesterone receptor signaling pathway)|go:"GO:0061630"(ubiquitin protein ligase activity)|go:"GO:0070936"(protein K48-linked ubiquitination)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:1901315"(negative regulation of histone H2A K63-linked ubiquitination)|ensembl:ENSG00000104517(gene)|go:"GO:2000779"(regulation of double-strand break repair)|go:"GO:2000780"(negative regulation of double-strand break repair)|interpro:IPR000569(HECT)|interpro:IPR002004(Polyadenylate-binding protein/Hyperplastic disc protein)|interpro:IPR003126(Zinc finger, N-recognin)|interpro:IPR009091(Regulator of chromosome condensation/beta-lactamase-inhibitor protein II)|interpro:IPR024725|interpro:IPR035983|interpro:IPR036053|mint:O95071|rcsb pdb:1I2T|rcsb pdb:2QHO|refseq:NP_056986.2|rcsb pdb:3PT3|dip:DIP-32930N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:5yiXAYJbV4iA8d3btwaVfL7vaik9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P0CG48 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-3390054|ensembl:ENSP00000344818|ensembl:ENSP00000441543|uniprotkb:Q9BWD6|uniprotkb:P02249|uniprotkb:Q8WYN8|uniprotkb:Q91887|uniprotkb:Q9UPK7|uniprotkb:P62988|uniprotkb:P02250|uniprotkb:Q9UEK8|uniprotkb:Q6LDU5|uniprotkb:Q91888|uniprotkb:Q6LBL4|uniprotkb:Q9UEF2|uniprotkb:Q29120|uniprotkb:P02248|uniprotkb:Q9BX98|uniprotkb:Q9UEG1 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ubc_human(display_long)|uniprotkb:UBC(gene name)|psi-mi:UBC(display_short) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 reactome:R-HSA-1295596|reactome:R-HSA-1358803|reactome:R-HSA-162588|reactome:R-HSA-1253288|reactome:R-HSA-168638|reactome:R-HSA-168927|reactome:R-HSA-168928|reactome:R-HSA-174048|reactome:R-HSA-174084|reactome:R-HSA-174113|reactome:R-HSA-174154|reactome:R-HSA-174178|reactome:R-HSA-174184|reactome:R-HSA-174490|reactome:R-HSA-175474|reactome:R-HSA-179409|reactome:R-HSA-180534|reactome:R-HSA-180585|reactome:R-HSA-182971|reactome:R-HSA-187577|reactome:R-HSA-195253|reactome:R-HSA-201681|reactome:R-HSA-202424|reactome:R-HSA-205043|reactome:R-HSA-209543|reactome:R-HSA-209560|reactome:R-HSA-211733|reactome:R-HSA-2122947|reactome:R-HSA-2122948|reactome:R-HSA-2173788|reactome:R-HSA-2173791|reactome:R-HSA-2173795|reactome:R-HSA-2173796|reactome:R-HSA-2467813|reactome:R-HSA-2559580|reactome:R-HSA-2559582|reactome:R-HSA-2559585|reactome:R-HSA-2565942|reactome:R-HSA-2644606|reactome:R-HSA-2672351|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-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-4608870|reactome:R-HSA-4641257|reactome:R-HSA-4641258|reactome:R-HSA-4641263|reactome:R-HSA-5205685|reactome:R-HSA-532668|reactome:R-HSA-5357905|reactome:R-HSA-5357956|reactome:R-HSA-5358346|reactome:R-HSA-5362768|reactome:R-HSA-5607761|reactome:R-HSA-5607764|reactome:R-HSA-5610780|reactome:R-HSA-5610783|reactome:R-HSA-5610785|reactome:R-HSA-5656169|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-5632684|reactome:R-HSA-5654726|reactome:R-HSA-5654727|reactome:R-HSA-5654732|reactome:R-HSA-5654733|reactome:R-HSA-5655862|reactome:R-HSA-5687128|reactome:R-HSA-5689603|reactome:R-HSA-5689877|reactome:R-HSA-5656121|reactome:R-HSA-5689896|reactome:R-HSA-5689901|reactome:R-HSA-5693565|reactome:R-HSA-5689880|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-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-75815|reactome:R-HSA-8849469|reactome:R-HSA-8852276|reactome:R-HSA-8854050|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-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-9615710|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-975144|reactome:R-HSA-975163|reactome:R-HSA-977225|reactome:R-HSA-983168|reactome:R-HSA-9613829|ensembl:ENSG00000150991(gene)|ensembl:ENST00000339647(transcript)|ensembl:ENST00000536769(transcript)|go:"GO:0002020"(protease binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|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:0010008"(endosome membrane)|go:"GO:0016567"(protein ubiquitination)|go:"GO:0019941"(modification-dependent protein catabolic process)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0031386"(protein tag)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0031982"(vesicle)|go:"GO:0070062"(extracellular exosome)|interpro:IPR019954|interpro:IPR019956|interpro:IPR029071|mint:P0CG48|rcsb pdb:1C3T|rcsb pdb:1CMX|rcsb pdb:1D3Z|rcsb pdb:1F9J|rcsb pdb:1FXT|rcsb pdb:1G6J|rcsb pdb:1GJZ|rcsb pdb:1NBF|rcsb pdb:1OGW|rcsb pdb:1Q5W|rcsb pdb:1S1Q|rcsb pdb:1SIF|rcsb pdb:1TBE|rcsb pdb:1UBI|rcsb pdb:1UBQ|rcsb pdb:1UD7|rcsb pdb:1XD3|rcsb pdb:1XQQ|rcsb pdb:1YX5|rcsb pdb:1YX6|rcsb pdb:1ZGU|rcsb pdb:1ZO6|rcsb pdb:2AYO|rcsb pdb:2BGF|rcsb pdb:2DEN|rcsb pdb:2FUH|rcsb pdb:2G45|rcsb pdb:2GBJ|rcsb pdb:2GBK|rcsb pdb:2GBM|rcsb pdb:2GBN|rcsb pdb:2GBR|rcsb pdb:2GMI|rcsb pdb:2HTH|rcsb pdb:2IBI|rcsb pdb:2J7Q|rcsb pdb:2JF5|rcsb pdb:2JRI|interpro:IPR000626(Ubiquitin)|rcsb pdb:2JY6|rcsb pdb:2JZZ|rcsb pdb:2K25|rcsb pdb:2K6D|rcsb pdb:2K8B|rcsb pdb:2K8C|rcsb pdb:2KDF|rcsb pdb:2KHW|rcsb pdb:2KJH|rcsb pdb:2KLG|rcsb pdb:2KN5|rcsb pdb:2KX0|rcsb pdb:2L3Z|rcsb pdb:2LD9|rcsb pdb:2LVO|rcsb pdb:2LVP|rcsb pdb:2LVQ|rcsb pdb:2LZ6|rcsb pdb:2MBO|rcsb pdb:2MBQ|rcsb pdb:2MCN|rcsb pdb:2MJ5|rcsb pdb:2MOR|rcsb pdb:2MRE|rcsb pdb:2MWS|rcsb pdb:2N2K|rcsb pdb:2NR2|rcsb pdb:2O6V|rcsb pdb:2OJR|rcsb pdb:2PE9|rcsb pdb:2PEA|rcsb pdb:2RR9|rcsb pdb:2RU6|rcsb pdb:2MI8|rcsb pdb:2W9N|rcsb pdb:2WDT|rcsb pdb:2XEW|rcsb pdb:2Y5B|rcsb pdb:2Z59|rcsb pdb:2ZCB|rcsb pdb:2ZVN|rcsb pdb:2ZVO|rcsb pdb:3A33|rcsb pdb:3ALB|rcsb pdb:3AUL|rcsb pdb:3B08|rcsb pdb:3B0A|rcsb pdb:3BY4|rcsb pdb:3C0R|rcsb pdb:3DVG|rcsb pdb:3DVN|rcsb pdb:3EEC|rcsb pdb:3EFU|rcsb pdb:3EHV|rcsb pdb:3H7P|rcsb pdb:3H7S|rcsb pdb:3HM3|rcsb pdb:3I3T|rcsb pdb:3IFW|rcsb pdb:3IHP|rcsb pdb:3JSV|rcsb pdb:3JVZ|rcsb pdb:3JW0|rcsb pdb:3K9O|rcsb pdb:3K9P|rcsb pdb:3KVF|rcsb pdb:3KW5|rcsb pdb:3LDZ|rcsb pdb:3MHS|rcsb pdb:3MTN|rcsb pdb:3N30|rcsb pdb:3N32|rcsb pdb:3N3K|rcsb pdb:3NS8|rcsb pdb:3O65|rcsb pdb:3OFI|rcsb pdb:3OJ3|rcsb pdb:3OJ4|rcsb pdb:3ONS|rcsb pdb:3PRM|rcsb pdb:3PT2|rcsb pdb:3Q3F|rcsb pdb:3RUL|rcsb pdb:3PTF|rcsb pdb:3TMP|rcsb pdb:3U30|rcsb pdb:3UGB|rcsb pdb:3V6C|rcsb pdb:3V6E|rcsb pdb:3VFK|rcsb pdb:3VUW|rcsb pdb:3VUX|rcsb pdb:3VUY|rcsb pdb:3WXE|rcsb pdb:3WXF|rcsb pdb:3ZLZ|rcsb pdb:3ZNH|rcsb pdb:3ZNI|rcsb pdb:3ZNZ|rcsb pdb:4AP4|rcsb pdb:4AUQ|rcsb pdb:4BOS|rcsb pdb:4BOZ|rcsb pdb:4BVU|rcsb pdb:4DDG|rcsb pdb:4DDI|rcsb pdb:4DHJ|rcsb pdb:4DHZ|rcsb pdb:4FJV|rcsb pdb:4HK2|rcsb pdb:4HXD|rcsb pdb:4I6L|rcsb pdb:4I6N|rcsb pdb:4IG7|rcsb pdb:4IUM|rcsb pdb:4JQW|rcsb pdb:4K1R|rcsb pdb:4K7S|rcsb pdb:4K7U|rcsb pdb:4K7W|rcsb pdb:4KSK|rcsb pdb:4KSL|rcsb pdb:4LCD|rcsb pdb:4LDT|rcsb pdb:4MDK|rcsb pdb:4MM3|rcsb pdb:4MSM|rcsb pdb:4MSQ|rcsb pdb:4NQK|rcsb pdb:4UN2|rcsb pdb:4V3K|rcsb pdb:4V3L|rcsb pdb:4WZP|rcsb pdb:4XOK|rcsb pdb:4XOL|rcsb pdb:4ZQS|rcsb pdb:5A5B|rcsb pdb:5AF4|rcsb pdb:5AF5|rcsb pdb:5AF6|rcsb pdb:5AIT|rcsb pdb:5AIU|rcsb pdb:5B83|rcsb pdb:5C7J|rcsb pdb:5C7M|rcsb pdb:5E6J|rcsb pdb:5H07|rcsb pdb:5NL4|rcsb pdb:5NLF|rcsb pdb:5NLI|rcsb pdb:5NMC|rcsb pdb:5OE7|rcsb pdb:5OHV|rcsb pdb:5OXH|rcsb pdb:5OXI|rcsb pdb:5UDH|rcsb pdb:5WQ4|rcsb pdb:5ZQ3|rcsb pdb:5ZQ4|rcsb pdb:5ZQ5|rcsb pdb:5ZQ6|rcsb pdb:5ZQ7|rcsb pdb:6A43|rcsb pdb:6A44|rcsb pdb:6AQR|rcsb pdb:6B7M|rcsb pdb:6B7O|rcsb pdb:6K2U|rcsb pdb:6KBE|rcsb pdb:6N13|rcsb pdb:6N6R|rcsb pdb:6NQA|rcsb pdb:6NXK|rcsb pdb:6OI4|rcsb pdb:6P5B|rcsb pdb:6Q00|rcsb pdb:6QML|rcsb pdb:6RYA|rcsb pdb:6S53|rcsb pdb:6SQR|rcsb pdb:6T7F|rcsb pdb:6T9L|rcsb pdb:6TNF|rcsb pdb:6TTU|rcsb pdb:6TUV|rcsb pdb:6TXB|rcsb pdb:6ULH|rcsb pdb:6UMP|rcsb pdb:6EQI|rcsb pdb:6UMS|rcsb pdb:6UPU|rcsb pdb:6V5D|rcsb pdb:6VAE|rcsb pdb:6VAF|rcsb pdb:6VEN|rcsb pdb:6W9D|rcsb pdb:6W9R|rcsb pdb:6W9S|rcsb pdb:6WJD|rcsb pdb:6WKR|rcsb pdb:6WTG|rcsb pdb:6Z7V|rcsb pdb:7B5L|rcsb pdb:7B5M|rcsb pdb:7B5N|rcsb pdb:7BBD|rcsb pdb:7BBF|rcsb pdb:7BXG|rcsb pdb:7K6P|rcsb pdb:7K6Q|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|refseq:NP_066289.3 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:BM+LHQXjMaUn8RZfq1h9jsAAqcs9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q14157 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-347762|uniprotkb:Q5VU75|uniprotkb:Q5VU76|uniprotkb:Q9BTU3|uniprotkb:Q9UGL2|uniprotkb:Q9UGL3|uniprotkb:Q9UGL5|uniprotkb:B4E0U8|uniprotkb:Q9UGL4|ensembl:ENSP00000355343|ensembl:ENSP00000389445 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ubp2l_human(display_long)|uniprotkb:UBAP2L(gene name)|psi-mi:UBAP2L(display_short)|uniprotkb:Protein NICE-4(gene name synonym)|uniprotkb:KIAA0144(gene name synonym)|uniprotkb:NICE4(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:XP_011508518.1|refseq:NP_001120792.1|refseq:NP_055662.3|refseq:NP_001274744.1|refseq:NP_001274745.1|refseq:XP_005245731.1|refseq:XP_016858467.1|refseq:XP_016858468.1|refseq:XP_016858475.1|refseq:XP_016858476.1|refseq:XP_016858478.1|refseq:XP_016858479.1|ensembl:ENSG00000143569(gene)|ensembl:ENST00000361546(transcript)|ensembl:ENST00000428931(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0007339"(binding of sperm to zona pellucida)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0031519"(PcG protein complex)|go:"GO:0034063"(stress granule assembly)|go:"GO:0061484"(hematopoietic stem cell homeostasis)|interpro:IPR009060(UBA-like)|interpro:IPR015940(Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote)|interpro:IPR022166|mint:Q14157 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:4iKY4hJOHGSyOOt8zfPhkeyth6Q9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P23258 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-302589|ensembl:ENSP00000251413|uniprotkb:Q9BW59|uniprotkb:Q53X79 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:tbg1_human(display_long)|uniprotkb:TUBG1(gene name)|psi-mi:TUBG1(display_short)|uniprotkb:TUBG(gene name synonym)|uniprotkb:Gamma-1-tubulin(gene name synonym)|uniprotkb:Gamma-tubulin complex component 1(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 interpro:IPR018316|interpro:IPR023123|interpro:IPR036525|interpro:IPR037103|mint:P23258|rcsb pdb:1Z5V|rcsb pdb:1Z5W|rcsb pdb:3CB2|rcsb pdb:6V5V|rcsb pdb:6V6S|rcsb pdb:7AS4|reactome:R-HSA-2565942|reactome:R-HSA-380259|reactome:R-HSA-380270|reactome:R-HSA-380284|reactome:R-HSA-380320|interpro:IPR017975|reactome:R-HSA-5620912|reactome:R-HSA-8854518|ensembl:ENSG00000131462(gene)|ensembl:ENST00000251413(transcript)|go:"GO:0000070"(mitotic sister chromatid segregation)|go:"GO:0000212"(meiotic spindle organization)|go:"GO:0000226"(microtubule cytoskeleton organization)|go:"GO:0000242"(pericentriolar material)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0000794"(condensed nuclear chromosome)|go:"GO:0000930"(gamma-tubulin complex)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005819"(spindle)|go:"GO:0005827"(polar microtubule)|go:"GO:0005829"(cytosol)|go:"GO:0005874"(microtubule)|go:"GO:0005881"(cytoplasmic microtubule)|go:"GO:0007020"(microtubule nucleation)|go:"GO:0007052"(mitotic spindle organization)|go:"GO:0031122"(cytoplasmic microtubule organization)|go:"GO:0031252"(cell leading edge)|go:"GO:0036064"(ciliary basal body)|go:"GO:0042802"(identical protein binding)|go:"GO:0045177"(apical part of cell)|go:"GO:0055037"(recycling endosome)|go:"GO:0097730"(non-motile cilium)|go:"GO:1990498"(mitotic spindle microtubule)|interpro:IPR000217(Tubulin)|interpro:IPR002454(Gamma tubulin)|go:"GO:0005814"(centriole)|interpro:IPR003008(Tubulin/FtsZ, GTPase)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|refseq:NP_001061.2|dip:DIP-29890N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:Y5WLH1ZKlS7FOa9ePmH3dpdE8Xk9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9BUF5 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-356735|uniprotkb:Q9HA42|ensembl:ENSP00000318697|uniprotkb:B3KM76 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:/IC9o8wSAOu+lNgq44Qqu5hEof49606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P68371 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-351356|uniprotkb:P05217|uniprotkb:A2BFA2|ensembl:ENSP00000341289 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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) - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:4LwMs7E7eILMjB9Z/1bstAp22CY9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P04350 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-355007|uniprotkb:B3KQP4|uniprotkb:Q969E5|ensembl:ENSP00000264071 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:mMveBNZkQs2x0dyHm/ghVWBe4/49606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q13885 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-711595|ensembl:ENSP00000369703|uniprotkb:Q6FGZ8|uniprotkb:Q8IWR2 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:XN9uTGU0KxQjMod0AGnM+XJoHyk9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P07437 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:B6pmb1dvCroZXGd/1Zazi+s72GA9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q13748 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-355068|uniprotkb:A6NJQ0|uniprotkb:Q5W099|uniprotkb:Q6PEY3|uniprotkb:Q96F18|uniprotkb:P0DPH8|uniprotkb:P0DPH7 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:tba3c_human(display_long)|uniprotkb:TUBA3C(gene name)|psi-mi:TUBA3C(display_short)|uniprotkb:TUBA3D(gene name)|psi-mi:TUBA3D(display_short)|uniprotkb:TUBA2(gene name synonym)|uniprotkb:Alpha-tubulin 3C/D(gene name synonym)|uniprotkb:Tubulin alpha-2 chain(gene name synonym)|uniprotkb:Alpha-tubulin 2(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 go:"GO:0005200"(structural constituent of cytoskeleton)|ensembl:ENSG00000075886|ensembl:ENSG00000198033|ensembl:ENSP00000326042|ensembl:ENSP00000382982|go:"GO:0005737"(cytoplasm)|go:"GO:0005874"(microtubule)|go:"GO:0005525"(GTP binding)|go:"GO:0003924"(GTPase activity)|refseq:NP_005992.1|refseq:NP_525125.2|interpro:IPR002452(Alpha tubulin)|interpro:IPR008280(Tubulin/FtsZ, C-terminal)|interpro:IPR000217(Tubulin)|interpro:IPR018316|interpro:IPR017975|interpro:IPR003008(Tubulin/FtsZ, GTPase)|ensembl:ENSP00000482878|ensembl:ENST00000618094|reactome:R-HSA-6807878|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-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-68877|reactome:R-HSA-983189|go:"GO:0007017"(microtubule-based process)|go:"GO:0005634"(nucleus)|ensembl:ENST00000321253|ensembl:ENST00000400113|reactome:R-HSA-6811434|reactome:R-HSA-6811436|reactome:R-HSA-8852276|go:"GO:0015630"(microtubule cytoskeleton)|interpro:IPR023123|mint:Q13748|dip:DIP-34513N|reactome:R-HSA-3371497|reactome:R-HSA-8955332|interpro:IPR036525|interpro:IPR037103|reactome:R-HSA-9609736|reactome:R-HSA-9619483|reactome:R-HSA-9609690|reactome:R-HSA-9646399|reactome:R-HSA-9648025|go:"GO:0036064"(ciliary basal body) - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:mE1Hcdc9AAMMxfxzKB6TfM6RrHE9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q71U36 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-302552|uniprotkb:P04687|uniprotkb:P05209|uniprotkb:A8K0B8|uniprotkb:G3V1U9|intact:EBI-10989786|ensembl:ENSP00000301071|ensembl:ENSP00000439020 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:1CzEzrf5y8hrQRPKgWQS1Wm1aCY9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q12816 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-950001|ensembl:ENSP00000173898|uniprotkb:Q9NU89|uniprotkb:Q9UPN8|uniprotkb:Q96SX2|uniprotkb:B1AKE9|uniprotkb:B1AKF1|uniprotkb:F5GY27 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:trop_human(display_long)|uniprotkb:MAGE-D3 antigen(gene name synonym)|uniprotkb:TRO(gene name)|psi-mi:TRO(display_short)|uniprotkb:KIAA1114(gene name synonym)|uniprotkb:MAGED3(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000067445(gene)|ensembl:ENST00000173898(transcript)|go:"GO:0007156"(homophilic cell adhesion via plasma membrane adhesion molecules)|go:"GO:0007566"(embryo implantation)|go:"GO:0031226"(intrinsic component of plasma membrane)|interpro:IPR002190(MAGE protein)|interpro:IPR037445|interpro:IPR041898|interpro:IPR041899|refseq:NP_001258112.1|refseq:NP_001034794.1|refseq:XP_011529110.1|refseq:XP_011529111.1|refseq:XP_011529113.1|refseq:XP_011529114.1|refseq:XP_011529115.1|refseq:NP_057241.2|refseq:NP_808224.1|ensembl:ENSP00000173898|ensembl:ENST00000319167|ensembl:ENSP00000318278|ensembl:ENST00000375022|ensembl:ENSP00000364162|ensembl:ENST00000399736|ensembl:ENSP00000382641|ensembl:ENST00000420798|ensembl:ENSP00000405126|ensembl:ENST00000375041|ensembl:ENSP00000364181|refseq:XP_006724663.1|refseq:XP_016885256.1|refseq:XP_016885258.1|refseq:XP_016885259.1|refseq:XP_016885260.1|refseq:NP_808225.1 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:UZH2sp1hZhKbMytGi5Ufw/8kY2Q9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q8NDV7 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2269715|uniprotkb:O15408|uniprotkb:Q658L5|uniprotkb:Q6NVB5|uniprotkb:Q8NEZ0|uniprotkb:Q8TBT8|uniprotkb:Q8TCR0|uniprotkb:Q9NV59|uniprotkb:Q9P268|uniprotkb:C9JAR8|ensembl:ENSP00000379144|ensembl:ENSP00000500873 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:tnr6a_human(display_long)|uniprotkb:TNRC6A(gene name)|psi-mi:TNRC6A(display_short)|uniprotkb:CAGH26(gene name synonym)|uniprotkb:KIAA1460(gene name synonym)|uniprotkb:TNRC6(gene name synonym)|uniprotkb:CAG repeat protein 26(gene name synonym)|uniprotkb:Glycine-tryptophan protein of 182 kDa(gene name synonym)|uniprotkb:GW182 autoantigen(gene name synonym)|uniprotkb:EMSY interactor protein(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENST00000315183|ensembl:ENSP00000326900|ensembl:ENSP00000379144|ensembl:ENST00000672933|ensembl:ENSP00000500125|ensembl:ENSP00000500873|refseq:NP_055309.2|refseq:NP_001317449.1|refseq:XP_016878642.1|refseq:XP_005255314.1|dip:DIP-54489N|ensembl:ENSG00000090905(gene)|ensembl:ENSG00000288130(gene)|ensembl:ENST00000395799(transcript)|ensembl:ENST00000673084(transcript)|go:"GO:0000932"(P-body)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0009267"(cellular response to starvation)|go:"GO:0016442"(RISC complex)|go:"GO:0035195"(gene silencing by miRNA)|go:"GO:0035278"(miRNA-mediated gene silencing by inhibition of translation)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0060213"("positive regulation of nuclear-transcribed mRNA poly(A) tail shortening")|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR019486|interpro:IPR026805|interpro:IPR032226|interpro:IPR033501|interpro:IPR034924|interpro:IPR035979|mint:Q8NDV7|rcsb pdb:5W6V|reactome:R-HSA-1912408|reactome:R-HSA-2559580|reactome:R-HSA-2559585|reactome:R-HSA-4086398|reactome:R-HSA-426496|reactome:R-HSA-5578749|reactome:R-HSA-5628897|reactome:R-HSA-5687128|reactome:R-HSA-8853884|reactome:R-HSA-8934593|reactome:R-HSA-8936459|reactome:R-HSA-8943723|reactome:R-HSA-8948700|reactome:R-HSA-8986944|reactome:R-HSA-9018519|reactome:R-HSA-9022692|reactome:R-HSA-9029569 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:CovOl6RsNKv9t55lEGnLPo2gafY9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9Y2W1 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-352039|uniprotkb:Q5VTK6|uniprotkb:D3DPS5|ensembl:ENSP00000346634|ensembl:ENSP00000433825 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:pPyZVG1IXg/+QDpHngwzUX09cBM9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q13148 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-372899|uniprotkb:Q6FI92|uniprotkb:E2PU12|uniprotkb:Q96DJ0|intact:EBI-2821405|uniprotkb:A4GUK4|uniprotkb:A4GUK5|uniprotkb:A4GUK6|uniprotkb:B2R629|uniprotkb:Q53H27|uniprotkb:B4DJ45|ensembl:ENSP00000240185|ensembl:ENSP00000491203 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:tadbp_human(display_long)|uniprotkb:TARDBP(gene name)|psi-mi:TARDBP(display_short)|uniprotkb:TDP43(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_031401.1|ensembl:ENSG00000120948(gene)|ensembl:ENST00000240185(transcript)|ensembl:ENST00000639083(transcript)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0001933"(negative regulation of protein phosphorylation)|go:"GO:0003690"(double-stranded DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005726"(perichromatin fibrils)|go:"GO:0006397"(mRNA processing)|go:"GO:0008380"(RNA splicing)|go:"GO:0032024"(positive regulation of insulin secretion)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0035061"(interchromatin granule)|go:"GO:0042307"(positive regulation of protein import into nucleus)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0042802"(identical protein binding)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043922"(negative regulation by host of viral transcription)|go:"GO:0048511"(rhythmic process)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0061158"(3'-UTR-mediated mRNA destabilization)|go:"GO:0070935"(3'-UTR-mediated mRNA stabilization)|go:"GO:0071765"(nuclear inner membrane organization)|go:"GO:0097157"(pre-mRNA intronic binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979|interpro:IPR041105|mint:Q13148|rcsb pdb:1WF0|rcsb pdb:2CQG|rcsb pdb:2N2C|rcsb pdb:2N3X|rcsb pdb:2N4G|rcsb pdb:2N4H|rcsb pdb:2N4P|rcsb pdb:4BS2|rcsb pdb:4IUF|rcsb pdb:4Y00|rcsb pdb:4Y0F|rcsb pdb:5MDI|rcsb pdb:5MRG|rcsb pdb:5W50|rcsb pdb:5W52|rcsb pdb:5W7V|rcsb pdb:5WHN|rcsb pdb:5WHP|rcsb pdb:5WIA|rcsb pdb:5WIQ|rcsb pdb:5WKB|rcsb pdb:5WKD|rcsb pdb:5X4F|rcsb pdb:6B1G|rcsb pdb:6CF4|rcsb pdb:6CFH|rcsb pdb:6N37|rcsb pdb:6N3A|rcsb pdb:6N3B|rcsb pdb:6N3C|rcsb pdb:6T4B|rcsb pdb:7KWZ|go:"GO:0010468"(regulation of gene expression)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016607"(nuclear speck)|go:"GO:0031647"(regulation of protein stability)|refseq:XP_016856352.1|refseq:XP_016856353.1|refseq:XP_016856354.1|refseq:XP_016856355.1|refseq:XP_016856356.1|refseq:XP_016856357.1|dip:DIP-31167N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:KG5C6KnWiKeFQLYbHcfr9a11Ro49606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q8IX01 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-949116|ensembl:ENSP00000337926|ensembl:ENSP00000389380|ensembl:ENSP00000472286|uniprotkb:O15071|uniprotkb:O60369|uniprotkb:Q5JPH7|uniprotkb:Q8WUF7|uniprotkb:C9JI71 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:sugp2_human(display_long)|uniprotkb:Arginine/serine-rich-splicing factor 14(gene name synonym)|uniprotkb:SUGP2(gene name)|psi-mi:SUGP2(display_short)|uniprotkb:KIAA0365(gene name synonym)|uniprotkb:SFRS14(gene name synonym)|uniprotkb:Splicing factor, arginine/serine-rich 14(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000064607(gene)|ensembl:ENST00000337018(transcript)|ensembl:ENST00000452918(transcript)|ensembl:ENST00000601879(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006397"(mRNA processing)|go:"GO:0008380"(RNA splicing)|go:"GO:0016604"(nuclear body)|interpro:IPR000061(SWAP/Surp)|interpro:IPR000467(D111/G-patch)|interpro:IPR035967|interpro:IPR040169|mint:Q8IX01|rcsb pdb:1X4P|refseq:NP_001017392.2|refseq:NP_055699.2|refseq:XP_016881626.1|refseq:NP_001308626.1 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:hN1zWaoMMufKCQNO9VQ8NPiN0hI9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9NUL3 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-722938|uniprotkb:Q6AHY7|uniprotkb:Q96HM0|uniprotkb:Q96HM1|uniprotkb:Q9NVI5|uniprotkb:Q9UGG6|uniprotkb:A0A0A0MTC5|uniprotkb:E9PF26|uniprotkb:B7Z1I6|uniprotkb:B7Z292|uniprotkb:B7Z8B4|uniprotkb:E7ER74|uniprotkb:E9PEI3|uniprotkb:E9PF50|ensembl:ENSP00000428756 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:stau2_human(display_long)|uniprotkb:STAU2(gene name)|psi-mi:STAU2(display_short) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001157852.1|refseq:NP_001157853.1|refseq:NP_001157854.1|refseq:NP_001157855.1|refseq:NP_001157856.1|refseq:NP_001157857.1|refseq:NP_055208.2|ensembl:ENSG00000040341(gene)|ensembl:ENST00000524300(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005874"(microtubule)|go:"GO:0016020"(membrane)|interpro:IPR014720(Double-stranded RNA-binding-like)|interpro:IPR032478|interpro:IPR044464|interpro:IPR044473|interpro:IPR044474|interpro:IPR044476 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:iFcd8pLhQK+8ihFUCf4sl2f0bgw9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O95793 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-358174|uniprotkb:Q6GTM4|uniprotkb:Q9H5B5|intact:EBI-366174|uniprotkb:Q9H5B4|uniprotkb:Q9Y3Q2|uniprotkb:A8K9Z4|ensembl:ENSP00000360922|uniprotkb:E1P5Y1|uniprotkb:E1P608|uniprotkb:Q5JW29 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:stau1_human(display_long)|uniprotkb:STAU1(gene name)|psi-mi:STAU1(display_short)|uniprotkb:STAU(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001309856.1|refseq:NP_001309858.1|refseq:NP_001309859.1|refseq:NP_001032405.1|refseq:NP_004593.2|refseq:NP_059346.2|refseq:NP_059347.2|refseq:NP_059348.2|refseq:NP_001306063.1|refseq:NP_001306064.1|ensembl:ENSG00000124214(gene)|ensembl:ENST00000371856(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005875"(microtubule associated complex)|go:"GO:0005886"(plasma membrane)|go:"GO:0008157"(protein phosphatase 1 binding)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0016020"(membrane)|go:"GO:0030425"(dendrite)|go:"GO:0034599"(cellular response to oxidative stress)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0043025"(neuronal cell body)|go:"GO:0044297"(cell body)|go:"GO:0045070"(positive regulation of viral genome replication)|go:"GO:0046726"(positive regulation by virus of viral protein levels in host cell)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098978"(glutamatergic synapse)|refseq:XP_005260584.1|go:"GO:0099010"(modification of postsynaptic structure)|go:"GO:1900273"(positive regulation of long-term synaptic potentiation)|interpro:IPR014720(Double-stranded RNA-binding-like)|interpro:IPR032478|interpro:IPR044475|mint:O95793|rcsb pdb:4DKK|rcsb pdb:6HTU|rcsb pdb:6SDW|rcsb pdb:6SDY - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:uYjbWja/hG5M/3likHLe00Z2FgY9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q8N5C6 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2513767|ensembl:ENSP00000263736|uniprotkb:Q53T56|uniprotkb:Q96TA4|uniprotkb:Q9NW11 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:srbd1_human(display_long)|uniprotkb:SRBD1(gene name)|psi-mi:SRBD1(display_short) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000068784(gene)|ensembl:ENST00000263736(transcript)|go:"GO:0003729"(mRNA binding)|go:"GO:0003735"(structural constituent of ribosome)|go:"GO:0006139"(nucleobase-containing compound metabolic process)|go:"GO:0006412"(translation)|interpro:IPR003029(S1, RNA binding)|interpro:IPR006641(Resolvase, RNase H-like fold)|interpro:IPR010994(RuvA domain 2-like)|interpro:IPR012337(Polynucleotidyl transferase, Ribonuclease H fold)|interpro:IPR012340(Nucleic acid-binding, OB-fold)|interpro:IPR018974|interpro:IPR022967|interpro:IPR023319|interpro:IPR023323|interpro:IPR032639|refseq:NP_060549.4|interpro:IPR037027|interpro:IPR041692|interpro:IPR044146 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:mTBrjQa9GAzaL0m/VxFydanhbUE9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q00796 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-750068|uniprotkb:B2R655|uniprotkb:Q16682|uniprotkb:Q9UMD6|uniprotkb:B7Z3A6|uniprotkb:J3JZZ5|ensembl:ENSP00000267814 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:dhso_human(display_long)|uniprotkb:L-iditol 2-dehydrogenase(gene name synonym)|uniprotkb:SORD(gene name)|psi-mi:SORD(display_short)|uniprotkb:"(R,R)-butanediol dehydrogenase"(gene name synonym)|uniprotkb:Polyol dehydrogenase(gene name synonym)|uniprotkb:Ribitol dehydrogenase(gene name synonym)|uniprotkb:Xylitol dehydrogenase(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_003095.2|ensembl:ENSG00000140263(gene)|ensembl:ENST00000267814(transcript)|go:"GO:0000721"("(R,R)-butanediol dehydrogenase activity")|go:"GO:0003939"(L-iditol 2-dehydrogenase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005829"(cytosol)|go:"GO:0006006"(glucose metabolic process)|go:"GO:0006062"(sorbitol catabolic process)|go:"GO:0006970"(response to osmotic stress)|go:"GO:0008270"(zinc ion binding)|go:"GO:0009725"(response to hormone)|go:"GO:0016020"(membrane)|go:"GO:0030246"(carbohydrate binding)|go:"GO:0030317"(flagellated sperm motility)|go:"GO:0031514"(motile cilium)|go:"GO:0031667"(response to nutrient levels)|go:"GO:0031966"(mitochondrial membrane)|go:"GO:0042493"|go:"GO:0042802"(identical protein binding)|go:"GO:0046370"(fructose biosynthetic process)|go:"GO:0046526"(D-xylulose reductase activity)|go:"GO:0046686"(response to cadmium ion)|go:"GO:0046688"(response to copper ion)|go:"GO:0050255"(ribitol 2-dehydrogenase activity)|go:"GO:0051160"(L-xylitol catabolic process)|go:"GO:0051164"(L-xylitol metabolic process)|go:"GO:0051287"(NAD binding)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002328(Alcohol dehydrogenase, zinc-containing, conserved site)|interpro:IPR011032(GroES-like)|interpro:IPR013149(Alcohol dehydrogenase, zinc-binding)|interpro:IPR013154(Alcohol dehydrogenase GroES-like)|interpro:IPR020843|interpro:IPR036291|mint:Q00796|rcsb pdb:1PL6|rcsb pdb:1PL7|rcsb pdb:1PL8|reactome:R-HSA-5652227|reactome:R-HSA-5661270 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:BGqvXy2I7nmCLPYTOkUcQ8fpCkk9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9NWH9 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:/B0FdPpFi/TvMq9aGjuLOQ3zIuo9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P34896 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-715117|uniprotkb:Q9UMD1|uniprotkb:Q9UMD2|uniprotkb:Q96HY0|uniprotkb:D3DXD0|uniprotkb:B4DPM9|ensembl:ENSP00000492715|ensembl:ENSP00000495756|ensembl:ENSP00000318868 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:glyc_human(display_long)|uniprotkb:Glycine hydroxymethyltransferase(gene name synonym)|uniprotkb:SHMT1(gene name)|psi-mi:SHMT1(display_short)|uniprotkb:Serine methylase(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001268715.1|refseq:NP_004160.3|refseq:NP_683718.1|refseq:XP_016880446.1|refseq:XP_016880447.1|refseq:XP_011522294.1|refseq:XP_005256824.1|ensembl:ENSG00000176974(gene)|ensembl:ENSG00000284320(gene)|ensembl:ENST00000316694(transcript)|ensembl:ENST00000640392(transcript)|ensembl:ENST00000644141(transcript)|go:"GO:0000900"(translation repressor activity, mRNA regulatory element binding)|go:"GO:0004372"(glycine hydroxymethyltransferase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006544"(glycine metabolic process)|go:"GO:0006563"(L-serine metabolic process)|go:"GO:0006565"(L-serine catabolic process)|go:"GO:0006730"(one-carbon metabolic process)|go:"GO:0008270"(zinc ion binding)|go:"GO:0008732"(L-allo-threonine aldolase activity)|go:"GO:0009113"(purine nucleobase biosynthetic process)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0019264"(glycine biosynthetic process from serine)|go:"GO:0030170"(pyridoxal phosphate binding)|go:"GO:0035999"(tetrahydrofolate interconversion)|go:"GO:0036094"(small molecule binding)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0046653"(tetrahydrofolate metabolic process)|go:"GO:0046655"(folic acid metabolic process)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0050897"(cobalt ion binding)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070905"(serine binding)|go:"GO:1904482"(cellular response to tetrahydrofolate)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|interpro:IPR001085(Glycine hydroxymethyltransferase)|interpro:IPR015421(Pyridoxal phosphate-dependent transferase, major region, subdomain 1)|interpro:IPR015422(Pyridoxal phosphate-dependent transferase, major region, subdomain 2)|interpro:IPR015424(Pyridoxal phosphate-dependent transferase, major region)|interpro:IPR019798|interpro:IPR039429|rcsb pdb:1BJ4|rcsb pdb:6FL5|rcsb pdb:6M5W|reactome:R-HSA-196757|reactome:R-HSA-71262 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:OoGscelaCrK8ytz7Nyo7Msm8epE9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q8NC51 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:lVkIPRkoXs3B4Qop1pA2zG/RKlo9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O15027 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-357515|intact:EBI-1384174|uniprotkb:A1YCA4|uniprotkb:Q5SXP0|uniprotkb:Q5SXP1|uniprotkb:Q8N347|uniprotkb:Q96HP1|uniprotkb:J3KNL6|uniprotkb:Q4G0D7|intact:EBI-28968206|ensembl:ENSP00000325827|intact:EBI-10967582|intact:EBI-21024388 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:sc16a_human(display_long)|uniprotkb:KIAA0310(gene name synonym)|uniprotkb:SEC16(gene name synonym)|uniprotkb:SEC16L(gene name synonym)|uniprotkb:SEC16 homolog A(gene name synonym)|uniprotkb:SEC16A(gene name)|psi-mi:SEC16A(display_short) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:XP_011517562.1|refseq:XP_005266191.1|refseq:XP_011517548.1|refseq:XP_011517549.1|refseq:XP_011517550.1|refseq:XP_011517557.1|refseq:XP_011517559.1|refseq:XP_011517561.1|go:"GO:0070973"(protein localization to endoplasmic reticulum exit site)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR024298|interpro:IPR024340|interpro:IPR024880|mint:O15027|reactome:R-HSA-204005|ensembl:ENSG00000148396(gene)|ensembl:ENST00000313050(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0007029"(endoplasmic reticulum organization)|go:"GO:0007030"(Golgi organization)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0021762"(substantia nigra development)|go:"GO:0031090"(organelle membrane)|go:"GO:0032527"(protein exit from endoplasmic reticulum)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0043000"(Golgi to plasma membrane CFTR protein transport)|go:"GO:0048208"(COPII vesicle coating)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050821"(protein stabilization)|go:"GO:0070863"(positive regulation of protein exit from endoplasmic reticulum)|go:"GO:0070971"(endoplasmic reticulum exit site)|ensembl:ENSP00000325827|refseq:NP_055681.1|refseq:XP_011517554.1|refseq:NP_001263347.1|dip:DIP-27588N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:yB65QJbL+WBjtWO5UXAx2DCRbwI9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9Y230 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-352939|ensembl:ENSP00000473172|uniprotkb:Q6FIB9|uniprotkb:Q6PK27|uniprotkb:Q9Y361|uniprotkb:B3KQ59|uniprotkb:E7ETE5|intact:EBI-1058527 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:APKAWLDCJVULUP3nzqIaSLHKVN49606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9Y265 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-353675|uniprotkb:P82276|uniprotkb:Q1KMR0|uniprotkb:Q53HK5|uniprotkb:Q53HL7|uniprotkb:Q53Y27|uniprotkb:Q9BSX9|uniprotkb:B2R5S0|ensembl:ENSP00000318297|ensembl:ENSP00000494621 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:+FA/xQTUldQoWGRgad9U8vZpTHw9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9Y3I0 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2107208|uniprotkb:Q6IAI0|uniprotkb:Q9BWL4|uniprotkb:Q9NTH1|uniprotkb:Q9P037|uniprotkb:Q9P0J3|uniprotkb:B2R6A8|intact:EBI-4399544|ensembl:ENSP00000216038 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:rtcb_human(display_long)|uniprotkb:3'-phosphate/5'-hydroxy nucleic acid ligase(gene name synonym)|uniprotkb:C22orf28(gene name synonym)|uniprotkb:HSPC117(orf name)|uniprotkb:RTCB(gene name)|psi-mi:RTCB(display_short) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_055121.1|dip:DIP-46750N|ensembl:ENSG00000100220(gene)|ensembl:ENST00000216038(transcript)|go:"GO:0000971"(tRNA exon ligation utilizing 2',3' cyclic phosphate of 5'-exon as source of linkage phosphate)|go:"GO:0003723"(RNA binding)|go:"GO:0003972"("RNA ligase (ATP) activity")|go:"GO:0005525"(GTP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006388"(tRNA splicing, via endonucleolytic cleavage and ligation)|go:"GO:0017166"(vinculin binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0046872"(metal ion binding)|go:"GO:0072669"(tRNA-splicing ligase complex)|interpro:IPR001233(Protein of unknown function UPF0027)|interpro:IPR027513|interpro:IPR036025|mint:Q9Y3I0|reactome:R-HSA-6784531 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:URuCEq/DIn6DgR3jOb5fwnpDVXE9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P62241 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-351811|uniprotkb:Q6IRL7|uniprotkb:P09058|ensembl:ENSP00000379888 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:3rpCBdQyRWR+TCKnupbnCp30jKE9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P62277 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-351850|uniprotkb:P19116|uniprotkb:Q02546|uniprotkb:Q29200|uniprotkb:Q498Y0|uniprotkb:B2R549|ensembl:ENSP00000435777 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:GmlWYkXKxX6YwpEtzNABb+ZcytI9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P83731 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-353146|ensembl:ENSP00000377640|uniprotkb:P38663|uniprotkb:Q6IBS3|uniprotkb:B2R4Y3 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:rl24_human(display_long)|uniprotkb:RPL24(gene name)|psi-mi:RPL24(display_short)|uniprotkb:60S ribosomal protein L30(gene name synonym)|uniprotkb:Large ribosomal subunit protein eL24(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 go:"GO:0016020"(membrane)|go:"GO:0021554"(optic nerve development)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0022626"(cytosolic ribosome)|go:"GO:0031290"(retinal ganglion cell axon guidance)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045202"(synapse)|go:"GO:0045296"(cadherin binding)|go:"GO:0060041"(retina development in camera-type eye)|go:"GO:0070062"(extracellular exosome)|go:"GO:1902626"(assembly of large subunit precursor of preribosome)|interpro:IPR000988(Ribosomal protein L24e)|interpro:IPR011017(TRASH)|interpro:IPR023442|interpro:IPR038630|mint:P83731|rcsb pdb:4UG0|rcsb pdb:4V6X|rcsb pdb:5A2Q|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: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:6ZMI|rcsb pdb:6ZME|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|ensembl:ENSG00000114391(gene)|ensembl:ENST00000394077(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:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0010458"(exit from mitosis)|refseq:NP_000977.1 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:+Ah+YGgcjqOsk5ZS1HZUMQA/Of89606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P62906 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-356860|uniprotkb:P52859|uniprotkb:P53025|uniprotkb:Q5TZT6|uniprotkb:Q8J013|uniprotkb:B2R801|ensembl:ENSP00000363018 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:wrXKX6vzZ3ovXP3yUoL1/r+NGiw9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P40937 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-712376|ensembl:ENSP00000408295|uniprotkb:A8MZ62|uniprotkb:B3KSX8 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:rfc5_human(display_long)|uniprotkb:Activator 1 subunit 5(gene name synonym)|uniprotkb:Replication factor C 36 kDa subunit(gene name synonym)|uniprotkb:Activator 1 36 kDa subunit(gene name synonym)|uniprotkb:RFC5(gene name)|psi-mi:RFC5(display_short) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_031396.1|refseq:NP_853556.2|ensembl:ENSG00000111445(gene)|ensembl:ENST00000454402(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005663"(DNA replication factor C complex)|go:"GO:0006260"(DNA replication)|go:"GO:0006261"(DNA-dependent DNA replication)|go:"GO:0006281"(DNA repair)|go:"GO:0019899"(enzyme binding)|go:"GO:0031390"(Ctf18 RFC-like complex)|go:"GO:0032508"(DNA duplex unwinding)|go:"GO:1900264"(positive regulation of DNA-directed DNA polymerase activity)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR003959(AAA ATPase, core)|interpro:IPR008921(DNA polymerase III clamp loader subunit, C-terminal)|interpro:IPR013748(Replication factor C)|interpro:IPR027417|mint:P40937|rcsb pdb:1LFS|rcsb pdb:6VVO|reactome:R-HSA-110312|reactome:R-HSA-110314|reactome:R-HSA-110320|reactome:R-HSA-174411|reactome:R-HSA-176187|reactome:R-HSA-5651801|reactome:R-HSA-5655862|reactome:R-HSA-5656121|reactome:R-HSA-5656169|reactome:R-HSA-5685938|reactome:R-HSA-5685942|reactome:R-HSA-5693607|reactome:R-HSA-5693616|reactome:R-HSA-5696397|reactome:R-HSA-5696400|reactome:R-HSA-6782135|reactome:R-HSA-6782210|reactome:R-HSA-6804756|reactome:R-HSA-69091|reactome:R-HSA-69473|refseq:XP_011536945.1|refseq:XP_011536947.1|refseq:NP_001123584.1|refseq:NP_001123585.1|dip:DIP-36433N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:F7oadHDk6fkhHn+3rDF9K2JHSl49606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P38159 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-743526|ensembl:ENSP00000359645|uniprotkb:Q5JQ67|uniprotkb:Q969R3|uniprotkb:D3DWH0|uniprotkb:E9PG86|uniprotkb:Q8N8Y7|uniprotkb:B4E3U4 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:rbmx_human(display_long)|uniprotkb:Glycoprotein p43(gene name synonym)|uniprotkb:RBMX(gene name)|psi-mi:RBMX(display_short)|uniprotkb:HNRPG(gene name synonym)|uniprotkb:RBMXP1(gene name synonym)|uniprotkb:Heterogeneous nuclear ribonucleoprotein G(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000147274(gene)|ensembl:ENST00000320676(transcript)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0000791"(euchromatin)|go:"GO:0000978"(RNA polymerase II cis-regulatory region sequence-specific DNA binding)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003682"(chromatin binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005681"(spliceosomal complex)|go:"GO:0006366"(transcription by RNA polymerase II)|go:"GO:0016020"(membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042802"(identical protein binding)|go:"GO:0044530"(supraspliceosomal complex)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048025"(negative regulation of mRNA splicing, via spliceosome)|go:"GO:0048026"(positive regulation of mRNA splicing, via spliceosome)|go:"GO:0051260"(protein homooligomerization)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:0071347"(cellular response to interleukin-1)|go:"GO:0006509"(membrane protein ectodomain proteolysis)|go:"GO:1990904"(ribonucleoprotein complex)|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|mint:P38159|rcsb pdb:2MB0|rcsb pdb:2MKS|reactome:R-HSA-72163|reactome:R-HSA-72203|reactome:R-HSA-9013418|reactome:R-HSA-9013422|reactome:R-HSA-9696264|reactome:R-HSA-9696270|reactome:R-HSA-9696273|refseq:NP_002130.2|refseq:NP_001158275.1|dip:DIP-34447N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:ocCkdy9PxjeVLUQf0tMVCEhFfO89606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P29558 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-5462600|uniprotkb:Q14869|uniprotkb:Q15433|uniprotkb:Q53P46|uniprotkb:Q53QX8|uniprotkb:Q53RG6|uniprotkb:Q8WV20|ensembl:ENSP00000294904 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:rbms1_human(display_long)|uniprotkb:RBMS1(gene name)|psi-mi:RBMS1(display_short)|uniprotkb:C2orf12(gene name synonym)|uniprotkb:MSSP(gene name synonym)|uniprotkb:MSSP1(gene name synonym)|uniprotkb:SCR2(gene name synonym)|uniprotkb:Single-stranded DNA-binding protein MSSP-1(gene name synonym)|uniprotkb:Suppressor of CDC2 with RNA-binding motif 2(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_002888.1|refseq:NP_058520.1|ensembl:ENSG00000153250(gene)|ensembl:ENST00000348849(transcript)|go:"GO:0003690"(double-stranded DNA binding)|go:"GO:0003697"(single-stranded DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0006260"(DNA replication)|go:"GO:0006396"(RNA processing)|go:"GO:0008143"("poly(A) binding")|go:"GO:0008266"("poly(U) RNA binding")|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR002343(Paraneoplastic encephalomyelitis antigen)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034404|interpro:IPR035979|rcsb pdb:1X5O|rcsb pdb:6M75|rcsb pdb:7C36 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:npZQ2ZTonN9Bh4WMnboyvZYCv3Q9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9Y580 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-746903|uniprotkb:Q9NUT4|uniprotkb:B2R6K8|ensembl:ENSP00000439918 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:rbm7_human(display_long)|uniprotkb:RNA-binding motif protein 7(gene name synonym)|uniprotkb:RBM7(gene name)|psi-mi:RBM7(display_short) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001272974.1|refseq:NP_001272975.1|refseq:NP_001272976.1|refseq:NP_001272977.1|refseq:NP_057174.1|ensembl:ENSG00000076053(gene)|ensembl:ENST00000540163(transcript)|go:"GO:0000381"(regulation of alternative 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:0016076"(snRNA catabolic process)|go:"GO:0017069"(snRNA binding)|go:"GO:0051321"(meiotic cell cycle)|go:"GO:0071889"(14-3-3 protein binding)|go:"GO:0097157"(pre-mRNA intronic binding)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034500|interpro:IPR035979|mint:Q9Y580|rcsb pdb:2M8H|rcsb pdb:5IQQ|rcsb pdb:5LXR|rcsb pdb:5LXY|dip:DIP-48833N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:d39RjBQTHAVQlOsmrxMX0NCR8CU9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q96PK6 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:Q0UBl2qmfwQTPwUQ7ZDwGIMOYoA9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q16576 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-352227|ensembl:ENSP00000369427|intact:EBI-3505029|uniprotkb:Q5JP00 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:qANLG0ui7jm3Uy4+IRnxR8Kir7c9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P46060 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-396091|uniprotkb:Q96JJ2|ensembl:ENSP00000401470|ensembl:ENSP00000348577|ensembl:ENSP00000385866 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ragp1_human(display_long)|uniprotkb:RANGAP1(gene name)|psi-mi:RANGAP1(display_short)|uniprotkb:KIAA1835(gene name synonym)|uniprotkb:SD(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_002874.1|ensembl:ENST00000356244(transcript)|ensembl:ENST00000405486(transcript)|ensembl:ENST00000455915(transcript)|go:"GO:0000776"(kinetochore)|go:"GO:0003723"(RNA binding)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005643"(nuclear pore)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007165"(signal transduction)|go:"GO:0016235"(aggresome)|go:"GO:0030425"(dendrite)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031625"(ubiquitin protein ligase binding)|refseq:XP_011528596.1|refseq:XP_011528597.1|refseq:NP_001304859.1|go:"GO:0031965"(nuclear membrane)|interpro:IPR009109(Ran-GTPase activating protein 1, C-terminal)|interpro:IPR032675|interpro:IPR036720|mint:P46060|rcsb pdb:1Z5S|rcsb pdb:2GRN|rcsb pdb:2GRO|rcsb pdb:2GRP|rcsb pdb:2GRQ|rcsb pdb:2GRR|rcsb pdb:2IO2|rcsb pdb:2IO3|rcsb pdb:2IY0|rcsb pdb:3UIN|rcsb pdb:3UIO|rcsb pdb:3UIP|rcsb pdb:5D2M|reactome:R-HSA-141444|reactome:R-HSA-165054|reactome:R-HSA-2467813|interpro:IPR001611(Leucine-rich repeat)|reactome:R-HSA-2500257|reactome:R-HSA-3108232|go:"GO:0044614"(nuclear pore cytoplasmic filaments)|go:"GO:0045296"(cadherin binding)|go:"GO:0046826"(negative regulation of protein export from nucleus)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048678"(response to axon injury)|go:"GO:0072686"(mitotic spindle)|go:"GO:0090630"(activation of GTPase activity)|go:"GO:1904115"(axon cytoplasm)|go:"GO:1904117"(cellular response to vasopressin)|go:"GO:1990723"(cytoplasmic periphery of the nuclear pore complex)|go:"GO:0043231"(intracellular membrane-bounded organelle)|ensembl:ENSG00000100401(gene)|refseq:XP_006724352.1|reactome:R-HSA-4615885|refseq:NP_001265580.1|reactome:R-HSA-68877|reactome:R-HSA-9615933|reactome:R-HSA-9648025|reactome:R-HSA-5663220|refseq:XP_016884382.1|refseq:XP_016884383.1|refseq:XP_016884384.1|refseq:XP_016884385.1|refseq:XP_016884386.1|dip:DIP-29079N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:pUpd+7p5CeAKaRGLo/bXTeiwjiM9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P49792 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-973138|intact:EBI-28970106|ensembl:ENSP00000283195|uniprotkb:Q13074|uniprotkb:Q15280|uniprotkb:Q53TE2|uniprotkb:Q59FH7 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:rbp2_human(display_long)|uniprotkb:RANBP2(gene name)|psi-mi:RANBP2(display_short)|uniprotkb:NUP358(gene name synonym)|uniprotkb:Ran-binding protein 2(gene name synonym)|uniprotkb:Nuclear pore complex protein Nup358(gene name synonym)|uniprotkb:Nucleoporin Nup358(gene name synonym)|uniprotkb:358 kDa nucleoporin(gene name synonym)|uniprotkb:p270(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000153201(gene)|ensembl:ENST00000283195(transcript)|go:"GO:0000413"(protein peptidyl-prolyl isomerization)|go:"GO:0001975"(response to amphetamine)|go:"GO:0003723"(RNA binding)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005642"(annulate lamellae)|go:"GO:0005643"(nuclear pore)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|go:"GO:0006111"(regulation of gluconeogenesis)|go:"GO:0006457"(protein folding)|go:"GO:0006607"(NLS-bearing protein import into nucleus)|go:"GO:0016020"(membrane)|go:"GO:0016925"(protein sumoylation)|go:"GO:0019789"(SUMO transferase activity)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031965"(nuclear membrane)|go:"GO:0033133"(positive regulation of glucokinase activity)|go:"GO:0042405"(nuclear inclusion body)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044614"(nuclear pore cytoplasmic filaments)|go:"GO:0044615"(nuclear pore nuclear basket)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0051028"(mRNA transport)|go:"GO:0051642"(centrosome localization)|go:"GO:0061665"(SUMO ligase activity)|go:"GO:1990723"(cytoplasmic periphery of the nuclear pore complex)|interpro:IPR000156(Ran Binding Protein 1)|reactome:R-HSA-168271|interpro:IPR001876(Zinc finger, RanBP2-type)|interpro:IPR002130(Peptidyl-prolyl cis-trans isomerase, cyclophilin-type)|interpro:IPR011990(Tetratricopeptide-like helical)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR019734|interpro:IPR020892|interpro:IPR022011|interpro:IPR029000|interpro:IPR036443|mint:P49792|reactome:R-HSA-168276|rcsb pdb:1RRP|reactome:R-HSA-168325|reactome:R-HSA-168333|rcsb pdb:1XKE|rcsb pdb:1Z5S|rcsb pdb:2LAS|rcsb pdb:3UIN|rcsb pdb:3UIO|rcsb pdb:3UIP|rcsb pdb:4GA0|rcsb pdb:4I9Y|rcsb pdb:4L6E|rcsb pdb:4LQW|rcsb pdb:5CLL|rcsb pdb:5CLQ|reactome:R-HSA-1169408|reactome:R-HSA-141444|reactome:R-HSA-159227|reactome:R-HSA-159230|reactome:R-HSA-159231|reactome:R-HSA-159236|reactome:R-HSA-165054|reactome:R-HSA-170822|reactome:R-HSA-180910|reactome:R-HSA-191859|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-3108214|reactome:R-HSA-3232142|reactome:R-HSA-3301854|reactome:R-HSA-3371453|reactome:R-HSA-4085377|reactome:R-HSA-4551638|reactome:R-HSA-4570464|reactome:R-HSA-4615885|reactome:R-HSA-5578749|reactome:R-HSA-5619107|reactome:R-HSA-5663220|reactome:R-HSA-6784531|reactome:R-HSA-68877|reactome:R-HSA-9609690|reactome:R-HSA-9610379|reactome:R-HSA-180746|reactome:R-HSA-9648025|ensembl:ENSP00000283195|refseq:NP_006258.3|dip:DIP-37654N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:KB+rjfw8djVygvDpTncA0NO2MDY9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9UKM9 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-714796|uniprotkb:Q14621|uniprotkb:Q2M365|uniprotkb:Q5QPL8|uniprotkb:Q9BQX6|uniprotkb:Q9UJE3|ensembl:ENSP00000246194 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:raly_human(display_long)|uniprotkb:hnRNP associated with lethal yellow protein homolog(gene name synonym)|uniprotkb:Autoantigen p542(gene name synonym)|uniprotkb:Heterogeneous nuclear ribonucleoprotein C-like 2(gene name synonym)|uniprotkb:RALY(gene name)|psi-mi:RALY(display_short)|uniprotkb:P542(gene name synonym)|uniprotkb:HNRPCL2(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:XP_011526996.1|refseq:XP_011526997.1|ensembl:ENSG00000125970(gene)|ensembl:ENST00000246194(transcript)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0003712"(transcription coregulator activity)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0042632"(cholesterol homeostasis)|go:"GO:0071013"(catalytic step 2 spliceosome)|go:"GO:1903506"(regulation of nucleic acid-templated transcription)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR017347(Heterogeneous nuclear ribonucleoprotein C, Raly)|interpro:IPR034502|interpro:IPR035979|mint:Q9UKM9|rcsb pdb:1WF1|refseq:NP_031393.2|refseq:NP_057951.1|refseq:XP_005260391.1|refseq:XP_005260393.1|refseq:XP_016883220.1 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:3hd0n2UW0FSRNvSJa2mqflVeorc9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q96PU8 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-945792|uniprotkb:Q2I375|uniprotkb:Q5MJQ1|uniprotkb:Q969L9|uniprotkb:Q96EJ3|uniprotkb:Q96KA3|uniprotkb:Q96PU6|uniprotkb:Q96PU7|uniprotkb:Q9P0X6|uniprotkb:Q9P0X7|uniprotkb:Q9P0X8|uniprotkb:Q9P0X9|uniprotkb:Q9P0Y0|uniprotkb:Q9P0Y1|ensembl:ENSP00000355094 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:qki_human(display_long)|uniprotkb:QKI(gene name)|psi-mi:QKI(display_short)|uniprotkb:HKQ(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_006766.1|refseq:NP_996735.1|refseq:NP_996736.1|refseq:NP_996737.1|refseq:NP_001288014.1|refseq:XP_011534561.1|ensembl:ENSG00000112531(gene)|ensembl:ENST00000361752(transcript)|go:"GO:0001570"(vasculogenesis)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0006397"(mRNA processing)|go:"GO:0006417"(regulation of translation)|go:"GO:0007286"(spermatid development)|go:"GO:0008380"(RNA splicing)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0017124"(SH3 domain binding)|go:"GO:0042552"(myelination)|go:"GO:0042692"(muscle cell differentiation)|go:"GO:0042759"(long-chain fatty acid biosynthetic process)|go:"GO:0045202"(synapse)|go:"GO:0048024"(regulation of mRNA splicing, via spliceosome)|go:"GO:0051028"(mRNA transport)|interpro:IPR004087(K Homology)|interpro:IPR004088(K Homology, type 1)|interpro:IPR032367|interpro:IPR032377|interpro:IPR036612|mint:Q96PU8|rcsb pdb:4JVH|reactome:R-HSA-6802952 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:7dcw5OyNAhQTE+yTch3qbSlZJdE9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q14671 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-948453|ensembl:ENSP00000257075|uniprotkb:Q5VXY7|uniprotkb:Q9HAN1|intact:EBI-2842591|uniprotkb:E9PCJ0|uniprotkb:Q53HH5|uniprotkb:B4DG92|uniprotkb:A8K6W4|uniprotkb:D3DPN3 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:pum1_human(display_long)|uniprotkb:PUM1(gene name)|psi-mi:PUM1(display_short)|uniprotkb:KIAA0099(gene name synonym)|uniprotkb:PUMH1(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000134644(gene)|ensembl:ENST00000257075(transcript)|go:"GO:0000932"(P-body)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007283"(spermatogenesis)|go:"GO:0008344"(adult locomotory behavior)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0010608"(posttranscriptional regulation of gene expression)|go:"GO:0016441"(posttranscriptional gene silencing)|go:"GO:0035196"(production of miRNAs involved in gene silencing by miRNA)|go:"GO:0035198"(miRNA binding)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0048863"(stem cell differentiation)|interpro:IPR033712|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0051983"(regulation of chromosome segregation)|go:"GO:0060964"(regulation of gene silencing by miRNA)|go:"GO:0061157"(mRNA destabilization)|mint:Q14671|rcsb pdb:1IB2|rcsb pdb:1M8W|rcsb pdb:1M8X|rcsb pdb:1M8Y|rcsb pdb:1M8Z|rcsb pdb:2YJY|rcsb pdb:3BSB|rcsb pdb:3BSX|rcsb pdb:3Q0L|rcsb pdb:3Q0M|rcsb pdb:3Q0N|rcsb pdb:3Q0O|rcsb pdb:3Q0P|rcsb pdb:5YKH|rcsb pdb:5YKI|reactome:R-HSA-432722|go:"GO:1900246"(positive regulation of RIG-I signaling pathway)|go:"GO:2000637"(positive regulation of gene silencing by miRNA)|interpro:IPR001313(Pumilio RNA-binding region)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR033133|refseq:NP_001018494.1|refseq:NP_055491.1|dip:DIP-29082N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:tGsSgrvQ/Ehnm3UC5IO4CHhCrFs9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P35998 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-359710|uniprotkb:B7Z5E2|uniprotkb:A4D0Q1|uniprotkb:Q3LIA5|uniprotkb:Q9UDI3|ensembl:ENSP00000292644|ensembl:ENSP00000391211|ensembl:ENSP00000502939|ensembl:ENSP00000503179|ensembl:ENSP00000504608 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:ahQfjPKywP5DWNq3FB5XCjuqkJ09606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P48634 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:6XZhA7FHJ4ckoWPf1yI/OnaNwjo9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P19388 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-395189|uniprotkb:O43380|uniprotkb:Q6PIH5|uniprotkb:Q9BT06|uniprotkb:B2R6L4|uniprotkb:D6W5Y1|ensembl:ENSP00000464739|ensembl:ENSP00000478303|ensembl:ENSP00000485021 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:rpab1_human(display_long)|uniprotkb:POLR2E(gene name)|psi-mi:POLR2E(display_short)|uniprotkb:DNA-directed RNA polymerase II subunit E(gene name synonym)|uniprotkb:RPB5 homolog(gene name synonym)|uniprotkb:DNA-directed RNA polymerase II 23 kDa polypeptide(gene name synonym)|uniprotkb:XAP4(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_002686.2|ensembl:ENSG00000099817(gene)|ensembl:ENST00000586746(transcript)|ensembl:ENST00000612655(transcript)|ensembl:ENST00000615234(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003899"(DNA-directed 5'-3' RNA polymerase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005665"(RNA polymerase II, core complex)|go:"GO:0005666"(RNA polymerase III complex)|go:"GO:0005736"(RNA polymerase I complex)|go:"GO:0005829"(cytosol)|go:"GO:0006366"(transcription by RNA polymerase II)|interpro:IPR000783(RNA polymerase, subunit H/Rpb5 C-terminal)|interpro:IPR005571(RNA polymerase, Rpb5, N-terminal)|interpro:IPR014381(DNA-directed RNA polymerase, RPB5 subunit)|interpro:IPR020608|interpro:IPR020609|interpro:IPR035913|interpro:IPR036710|interpro:IPR039531|rcsb pdb:5IY8|rcsb pdb:5IY9|rcsb pdb:5IYA|rcsb pdb:5IYB|rcsb pdb:5IYC|rcsb pdb:5IYD|rcsb pdb:6DRD|rcsb pdb:6O9L|rcsb pdb:6XRE|rcsb pdb:7A6H|rcsb pdb:7AE1|rcsb pdb:7AE3|rcsb pdb:7AEA|rcsb pdb:7AST|rcsb pdb:7D58|rcsb pdb:7D59|rcsb pdb:7DN3|rcsb pdb:7DU2|rcsb pdb:7LBM|reactome:R-HSA-112382|reactome:R-HSA-113418|mint:P19388|rcsb pdb:5IY6|rcsb pdb:5IY7|reactome:R-HSA-167152|reactome:R-HSA-167158|reactome:R-HSA-167160|reactome:R-HSA-167161|reactome:R-HSA-167162|reactome:R-HSA-167172|reactome:R-HSA-167200|reactome:R-HSA-167238|reactome:R-HSA-167242|reactome:R-HSA-167243|reactome:R-HSA-167287|reactome:R-HSA-167290|reactome:R-HSA-168325|reactome:R-HSA-1834949|reactome:R-HSA-203927|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-5578749|reactome:R-HSA-5601884|reactome:R-HSA-5617472|reactome:R-HSA-674695|reactome:R-HSA-6781823|reactome:R-HSA-6781827|reactome:R-HSA-6782135|reactome:R-HSA-6782210|reactome:R-HSA-6796648|reactome:R-HSA-6803529|reactome:R-HSA-6807505|reactome:R-HSA-72086|reactome:R-HSA-72163|reactome:R-HSA-72165|reactome:R-HSA-72203|reactome:R-HSA-73762|reactome:R-HSA-73772|reactome:R-HSA-73776|reactome:R-HSA-73779|reactome:R-HSA-73780|reactome:R-HSA-73863|reactome:R-HSA-73980|reactome:R-HSA-749476|reactome:R-HSA-75953|reactome:R-HSA-75955|reactome:R-HSA-76042|reactome:R-HSA-76061|reactome:R-HSA-76066|reactome:R-HSA-76071|reactome:R-HSA-77075|reactome:R-HSA-8851708|reactome:R-HSA-9018519|reactome:R-HSA-9670095|reactome:R-HSA-167246|dip:DIP-56N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:BIVesx7KODhdpcgjhU6CghhXNQE9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P30876 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-394712|uniprotkb:Q8IZ61|uniprotkb:A8K1A8|ensembl:ENSP00000312735|ensembl:ENSP00000370625 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:rpb2_human(display_long)|uniprotkb:POLR2B(gene name)|psi-mi:POLR2B(display_short)|uniprotkb:DNA-directed RNA polymerase II subunit B(gene name synonym)|uniprotkb:RNA polymerase II subunit B2(gene name synonym)|uniprotkb:RNA polymerase II subunit 2(gene name synonym)|uniprotkb:DNA-directed RNA polymerase II 140 kDa polypeptide(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_000929.1|refseq:NP_001290197.1|refseq:NP_001290198.1|ensembl:ENSG00000047315(gene)|ensembl:ENST00000314595(transcript)|ensembl:ENST00000381227(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003899"(DNA-directed 5'-3' RNA polymerase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005665"(RNA polymerase II, core complex)|go:"GO:0006366"(transcription by RNA polymerase II)|go:"GO:0016020"(membrane)|go:"GO:0032549"(ribonucleoside binding)|go:"GO:0046872"(metal ion binding)|interpro:IPR007120(DNA-directed RNA polymerase, subunit 2, domain 6)|interpro:IPR007121(RNA polymerase, beta subunit, conserved site)|interpro:IPR007641(RNA polymerase Rpb2, domain 7)|interpro:IPR007642(RNA polymerase Rpb2, domain 2)|interpro:IPR007644(RNA polymerase, beta subunit, protrusion)|interpro:IPR007645(RNA polymerase Rpb2, domain 3)|interpro:IPR007646(RNA polymerase Rpb2, domain 4)|interpro:IPR007647(RNA polymerase Rpb2, domain 5)|interpro:IPR014724(RNA polymerase Rpb2, OB-fold)|interpro:IPR015712(DNA-directed RNA polymerase, subunit 2)|interpro:IPR037033|interpro:IPR037034|mint:P30876|rcsb pdb:5IY6|rcsb pdb:5IY7|rcsb pdb:5IY8|rcsb pdb:5IY9|rcsb pdb:5IYA|rcsb pdb:5IYB|rcsb pdb:5IYC|rcsb pdb:5IYD|rcsb pdb:6DRD|rcsb pdb:6O9L|rcsb pdb:6XRE|rcsb pdb:7LBM|reactome:R-HSA-112382|reactome:R-HSA-113418|reactome:R-HSA-167152|reactome:R-HSA-167158|reactome:R-HSA-167160|reactome:R-HSA-167161|reactome:R-HSA-167162|reactome:R-HSA-167172|reactome:R-HSA-167200|reactome:R-HSA-167238|reactome:R-HSA-167242|reactome:R-HSA-167243|reactome:R-HSA-167246|reactome:R-HSA-167287|reactome:R-HSA-167290|reactome:R-HSA-168325|reactome:R-HSA-203927|reactome:R-HSA-5578749|reactome:R-HSA-5601884|reactome:R-HSA-5617472|reactome:R-HSA-674695|reactome:R-HSA-6781823|reactome:R-HSA-6781827|reactome:R-HSA-6782135|reactome:R-HSA-6782210|reactome:R-HSA-6796648|reactome:R-HSA-6803529|reactome:R-HSA-6807505|reactome:R-HSA-72086|reactome:R-HSA-72163|reactome:R-HSA-72165|reactome:R-HSA-72203|reactome:R-HSA-73776|reactome:R-HSA-73779|reactome:R-HSA-75953|reactome:R-HSA-75955|reactome:R-HSA-76042|reactome:R-HSA-77075|reactome:R-HSA-8851708|reactome:R-HSA-9018519|reactome:R-HSA-9670095|dip:DIP-32910N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:YhEjtfLk2QnbRPefOp8ZHX0ejak9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O15160 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1055079|uniprotkb:O75395|uniprotkb:Q5JTE3|ensembl:ENSP00000496044 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:rpac1_human(display_long)|uniprotkb:DNA-directed RNA polymerases I and III 40 kDa polypeptide(gene name synonym)|uniprotkb:RPC40(gene name synonym)|uniprotkb:AC40(gene name synonym)|uniprotkb:RPA39(gene name synonym)|uniprotkb:POLR1C(gene name)|psi-mi:POLR1C(display_short)|uniprotkb:POLR1E(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001305805.1|refseq:NP_976035.1|ensembl:ENSG00000171453(gene)|ensembl:ENST00000642195(transcript)|go:"GO:0001054"(RNA polymerase I activity)|go:"GO:0001056"(RNA polymerase III activity)|go:"GO:0003677"(DNA binding)|go:"GO:0003899"(DNA-directed 5'-3' RNA polymerase activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005666"(RNA polymerase III complex)|go:"GO:0005736"(RNA polymerase I complex)|go:"GO:0005829"(cytosol)|go:"GO:0006360"(transcription by RNA polymerase I)|go:"GO:0046983"(protein dimerization activity)|interpro:IPR001514(DNA-directed RNA polymerase, 30-40 kDa subunit, conserved site)|interpro:IPR011262(DNA-directed RNA polymerase, insert)|interpro:IPR011263(DNA-directed RNA polymerase, RpoA/D/Rpb3-type)|interpro:IPR033901|interpro:IPR036603|interpro:IPR036643|mint:O15160|rcsb pdb:7A6H|rcsb pdb:7AE1|rcsb pdb:7AE3|rcsb pdb:7AEA|rcsb pdb:7AST|rcsb pdb:7D58|rcsb pdb:7D59|rcsb pdb:7DN3|rcsb pdb:7DU2|reactome:R-HSA-1834949|reactome:R-HSA-427413|reactome:R-HSA-5250924|reactome:R-HSA-73762|reactome:R-HSA-73772|reactome:R-HSA-73780|reactome:R-HSA-73863|reactome:R-HSA-73980|reactome:R-HSA-749476|reactome:R-HSA-76061|reactome:R-HSA-76066|reactome:R-HSA-76071|dip:DIP-27587N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:xSIuJ9kjLRZ6Vc9EnLdvX/CBJKU9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9Y2I7 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-6138650|uniprotkb:Q08AR7|uniprotkb:Q08AR8|uniprotkb:Q53ST3|uniprotkb:Q53T36|uniprotkb:Q8N5H0|uniprotkb:Q8NB67|ensembl:ENSP00000264380 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:fyv1_human(display_long)|uniprotkb:PIKFYVE(gene name)|psi-mi:PIKFYVE(display_short)|uniprotkb:KIAA0981(gene name synonym)|uniprotkb:PIP5K3(gene name synonym)|uniprotkb:FYVE finger-containing phosphoinositide kinase(gene name synonym)|uniprotkb:PIKfyve(gene name synonym)|uniprotkb:Phosphatidylinositol 3-phosphate 5-kinase type III(gene name synonym)|uniprotkb:Serine-protein kinase PIKFYVE(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001171471.1|refseq:NP_055855.2|refseq:NP_689884.1|ensembl:ENSP00000264380|ensembl:ENST00000308862|ensembl:ENSP00000308715|ensembl:ENST00000392202|ensembl:ENSP00000376038|ensembl:ENST00000407449|ensembl:ENSP00000384356|ensembl:ENSG00000115020(gene)|ensembl:ENST00000264380(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000285"(1-phosphatidylinositol-3-phosphate 5-kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005829"(cytosol)|go:"GO:0005911"(cell-cell junction)|go:"GO:0006612"(protein targeting to membrane)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0008270"(zinc ion binding)|go:"GO:0010008"(endosome membrane)|go:"GO:0016308"(1-phosphatidylinositol-4-phosphate 5-kinase activity)|go:"GO:0019065"(receptor-mediated endocytosis of virus by host cell)|go:"GO:0019886"(antigen processing and presentation of exogenous peptide antigen via MHC class II)|go:"GO:0030593"(neutrophil chemotaxis)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0032288"(myelin assembly)|go:"GO:0032438"(melanosome organization)|go:"GO:0034504"(protein localization to nucleus)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0036289"(peptidyl-serine autophosphorylation)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043813"(phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity)|go:"GO:0045121"(membrane raft)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0052810"(1-phosphatidylinositol-5-kinase activity)|go:"GO:0090382"(phagosome maturation)|go:"GO:0090385"(phagosome-lysosome fusion)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|go:"GO:1903100"(1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process)|go:"GO:1903426"(regulation of reactive oxygen species biosynthetic process)|go:"GO:1904562"(phosphatidylinositol 5-phosphate metabolic process)|go:"GO:2000785"(regulation of autophagosome assembly)|interpro:IPR000306(Zinc finger, FYVE-type)|interpro:IPR000591(Pleckstrin/ G-protein, interacting region)|interpro:IPR002423(Chaperonin Cpn60/TCP-1)|interpro:IPR002498(Phosphatidylinositol-4-phosphate 5-kinase, core)|interpro:IPR011011(Zinc finger, FYVE/PHD-type)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR017455(Zinc finger, FYVE-related)|interpro:IPR027409|interpro:IPR027410|interpro:IPR027484|interpro:IPR036388|interpro:IPR036390|interpro:IPR037378|interpro:IPR043548|interpro:IPR044769|mint:Q9Y2I7|rcsb pdb:7K2V|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517|go:"GO:0004674"(protein serine/threonine kinase activity) - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:x+HQiHh06DDjDBw5yezjFqiXvL89606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q86U42 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1226435|uniprotkb:O43484|uniprotkb:D3DS49|ensembl:ENSP00000216727 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:pabp2_human(display_long)|uniprotkb:PABPN1(gene name)|psi-mi:PABPN1(display_short)|uniprotkb:PAB2(gene name synonym)|uniprotkb:PABP2(gene name synonym)|uniprotkb:"Poly(A)-binding protein II"(gene name synonym)|uniprotkb:Polyadenylate-binding nuclear protein 1(gene name synonym)|uniprotkb:"Nuclear poly(A)-binding protein 1"(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_004634.1|dip:DIP-37968N|go:"GO:0000165"(MAPK cascade)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0006396"(RNA processing)|go:"GO:0006397"(mRNA processing)|ensembl:ENSG00000100836(gene)|ensembl:ENST00000216727(transcript)|go:"GO:0006936"(muscle contraction)|go:"GO:0016607"(nuclear speck)|go:"GO:0016973"("poly(A)+ mRNA export from nucleus")|go:"GO:0042405"(nuclear inclusion body)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:1904247"(positive regulation of polynucleotide adenylyltransferase activity)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034911|interpro:IPR035979|mint:Q86U42|rcsb pdb:3B4D|rcsb pdb:3B4M|rcsb pdb:3UCG|reactome:R-HSA-168315|reactome:R-HSA-72163|reactome:R-HSA-72187|reactome:R-HSA-73856|reactome:R-HSA-77595|go:"GO:0070063"(RNA polymerase binding) - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:NxWuFTvVqshfu+ZIsZMIZEdSk2k9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q13310 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-372844|uniprotkb:Q6P0N3|uniprotkb:B1ANQ8|ensembl:ENSP00000361948|intact:EBI-877641|uniprotkb:Q4VC03 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:pabp4_human(display_long)|uniprotkb:PABPC4(gene name)|psi-mi:PABPC4(display_short)|uniprotkb:APP1(gene name synonym)|uniprotkb:PABP4(gene name synonym)|uniprotkb:"Inducible poly(A)-binding protein"(gene name synonym)|uniprotkb:Activated-platelet protein 1(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001129126.1|refseq:NP_003810.1|ensembl:ENSG00000090621(gene)|ensembl:ENST00000372857(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:0006396"(RNA processing)|go:"GO:0006401"(RNA catabolic process)|go:"GO:0006412"(translation)|go:"GO:0007596"(blood coagulation)|go:"GO:0008143"("poly(A) binding")|go:"GO:0008266"("poly(U) RNA binding")|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0061515"(myeloid cell development)|go:"GO:1990904"(ribonucleoprotein complex)|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|mint:Q13310|refseq:NP_001129125.1 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:u1qCM3o5X7jLIa1vyqFCIH7v01w9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P11940 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:XudTSPq2h9ckKAc48X88RVafPRU9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O15294 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-539828|uniprotkb:Q7Z3K0|uniprotkb:Q8WWM8|uniprotkb:Q96CC1|uniprotkb:Q9UG57|ensembl:ENSP00000362824 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ogt1_human(display_long)|uniprotkb:O-linked N-acetylglucosamine transferase 110 kDa subunit(gene name synonym)|uniprotkb:O-GlcNAc transferase subunit p110(gene name synonym)|uniprotkb:OGT(gene name)|psi-mi:OGT(display_short) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_858058.1|refseq:NP_858059.1|rcsb pdb:3PE3|rcsb pdb:3PE4|rcsb pdb:3TAX|rcsb pdb:4AY5|rcsb pdb:4AY6|rcsb pdb:4CDR|rcsb pdb:4GYW|rcsb pdb:4GYY|rcsb pdb:4GZ3|rcsb pdb:4GZ5|rcsb pdb:4GZ6|rcsb pdb:4N39|rcsb pdb:4N3A|rcsb pdb:1W3B|rcsb pdb:4N3B|rcsb pdb:4N3C|rcsb pdb:4XI9|rcsb pdb:4XIF|rcsb pdb:5BNW|rcsb pdb:5C1D|rcsb pdb:5HGV|rcsb pdb:5LVV|rcsb pdb:5LWV|rcsb pdb:5NPR|rcsb pdb:5NPS|rcsb pdb:5VIE|rcsb pdb:5VIF|rcsb pdb:6E37|rcsb pdb:6EOU|rcsb pdb:6IBO|rcsb pdb:6MA2|rcsb pdb:6MA3|rcsb pdb:6MA4|rcsb pdb:6MA5|rcsb pdb:6Q4M|rcsb pdb:6TKA|reactome:R-HSA-3214847|reactome:R-HSA-5213460|reactome:R-HSA-5675482|reactome:R-HSA-5689603|rcsb pdb:6MA1|ensembl:ENSG00000147162(gene)|ensembl:ENST00000373719(transcript)|go:"GO:0000123"(histone acetyltransferase complex)|go:"GO:0005547"(phosphatidylinositol-3,4,5-trisphosphate binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006110"(regulation of glycolytic process)|go:"GO:0006111"(regulation of gluconeogenesis)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006493"(protein O-linked glycosylation)|go:"GO:0006915"(apoptotic process)|go:"GO:0007165"(signal transduction)|go:"GO:0007584"(response to nutrient)|go:"GO:0008375"(acetylglucosaminyltransferase activity)|go:"GO:0016262"(protein N-acetylglucosaminyltransferase activity)|go:"GO:0016485"(protein processing)|go:"GO:0017122"(protein N-acetylglucosaminyltransferase complex)|go:"GO:0031397"(negative regulation of protein ubiquitination)|go:"GO:0031966"(mitochondrial membrane)|go:"GO:0032435"(negative regulation of proteasomal ubiquitin-dependent protein catabolic process)|go:"GO:0032868"(response to insulin)|go:"GO:0032922"(circadian regulation of gene expression)|go:"GO:0032991"(protein-containing complex)|go:"GO:0035020"(regulation of Rac protein signal transduction)|go:"GO:0043981"(histone H4-K5 acetylation)|go:"GO:0043982"(histone H4-K8 acetylation)|go:"GO:0043984"(histone H4-K16 acetylation)|go:"GO:0045862"(positive regulation of proteolysis)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046626"(regulation of insulin receptor signaling pathway)|go:"GO:0048015"(phosphatidylinositol-mediated signaling)|go:"GO:0060544"(regulation of necroptotic process)|go:"GO:0061087"(positive regulation of histone H3-K27 methylation)|go:"GO:0080182"(histone H3-K4 trimethylation)|go:"GO:0097363"(protein O-GlcNAc transferase activity)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|interpro:IPR001440(Tetratricopeptide TPR-1)|interpro:IPR011990(Tetratricopeptide-like helical)|interpro:IPR019734|interpro:IPR029489|interpro:IPR037919|mint:O15294|go:"GO:0042995"(cell projection)|refseq:XP_016885396.1|refseq:XP_016885397.1|dip:DIP-33491N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:NmuVFHeg1QRYMbVav6e7fRJft5U9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q7Z417 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1210753|intact:EBI-10172018|uniprotkb:A1L3A7|uniprotkb:Q9P2M5|uniprotkb:A1L3A6|ensembl:ENSP00000225388 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:nufp2_human(display_long)|uniprotkb:NUFIP2(gene name)|psi-mi:NUFIP2(display_short)|uniprotkb:KIAA1321(gene name synonym)|uniprotkb:PIG1(orf name)|uniprotkb:FMRP-interacting protein 2(gene name synonym)|uniprotkb:82 kDa FMRP-interacting protein(gene name synonym)|uniprotkb:Cell proliferation-inducing gene 1 protein(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_065823.1|dip:DIP-29023N|ensembl:ENSG00000108256(gene)|ensembl:ENST00000225388(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0016020"(membrane)|go:"GO:0016604"(nuclear body)|go:"GO:0042788"(polysomal ribosome)|interpro:IPR032747|mint:Q7Z417 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:zdbkRisveP+8g70umfbEPHTnAgk9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O43809 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-355720|uniprotkb:Q6IB85|uniprotkb:Q6NE84|ensembl:ENSP00000300291 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:cpsf5_human(display_long)|uniprotkb:NUDT21(gene name)|psi-mi:NUDT21(display_short)|uniprotkb:CFIM25(gene name synonym)|uniprotkb:CPSF25(gene name synonym)|uniprotkb:CPSF5(gene name synonym)|uniprotkb:Cleavage and polyadenylation specificity factor 25 kDa subunit(gene name synonym)|uniprotkb:Nucleoside diphosphate-linked moiety X motif 21(gene name synonym)|uniprotkb:Cleavage factor Im complex 25 kDa subunit(gene name synonym)|uniprotkb:Nudix hydrolase 21(gene name synonym)|uniprotkb:Pre-mRNA cleavage factor Im 68 kDa subunit(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_008937.1|ensembl:ENSG00000167005(gene)|ensembl:ENST00000300291(transcript)|go:"GO:0003682"(chromatin 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:0005813"(centrosome)|go:"GO:0005847"(mRNA cleavage and polyadenylation specificity factor complex)|go:"GO:0005849"(mRNA cleavage factor complex)|go:"GO:0006378"(mRNA polyadenylation)|go:"GO:0006397"(mRNA processing)|go:"GO:0010608"(posttranscriptional regulation of gene expression)|go:"GO:0016604"(nuclear body)|go:"GO:0016787"(hydrolase activity)|go:"GO:0030154"(cell differentiation)|go:"GO:0031439"(positive regulation of mRNA cleavage)|go:"GO:0034451"(centriolar satellite)|go:"GO:0035925"(mRNA 3'-UTR AU-rich region binding)|go:"GO:0042382"(paraspeckles)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0051262"(protein tetramerization)|go:"GO:0051290"(protein heterotetramerization)|go:"GO:0098789"(pre-mRNA cleavage required for polyadenylation)|go:"GO:0110104"(mRNA alternative polyadenylation)|go:"GO:1900365"(positive regulation of mRNA polyadenylation)|go:"GO:1990120"(messenger ribonucleoprotein complex assembly)|go:"GO:2000738"(positive regulation of stem cell differentiation)|go:"GO:2000975"(positive regulation of pro-B cell differentiation)|interpro:IPR000086(NUDIX hydrolase, core)|interpro:IPR015797(NUDIX)|interpro:IPR016706(Cleavage and polyadenylation specificity factor, 25 kDa subunit)|mint:O43809|rcsb pdb:2CL3|rcsb pdb:2J8Q|rcsb pdb:3BAP|rcsb pdb:3BHO|rcsb pdb:3MDG|rcsb pdb:3MDI|rcsb pdb:3N9U|rcsb pdb:3P5T|rcsb pdb:3P6Y|rcsb pdb:3Q2S|rcsb pdb:3Q2T|rcsb pdb:5R4P|rcsb pdb:5R4Q|rcsb pdb:5R4R|rcsb pdb:5R4S|rcsb pdb:5R4T|rcsb pdb:5R4U|rcsb pdb:5R64|rcsb pdb:5R65|rcsb pdb:5R66|rcsb pdb:5R67|reactome:R-HSA-72163|reactome:R-HSA-72187|reactome:R-HSA-73856|reactome:R-HSA-77595|dip:DIP-42502N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:Acad4mYVuS+Eox+X2CH8PYUkGAA9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9BSD7 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2689235|ensembl:ENSP00000355587 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ntpcr_human(display_long)|uniprotkb:Nucleoside triphosphate phosphohydrolase(gene name synonym)|uniprotkb:NTPCR(gene name)|psi-mi:NTPCR(display_short)|uniprotkb:C1orf57(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_115700.1|interpro:IPR027417|mint:Q9BSD7|rcsb pdb:2I3B|ensembl:ENSG00000135778(gene)|ensembl:ENST00000366628(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005524"(ATP binding)|go:"GO:0016020"(membrane)|go:"GO:0017111"(nucleoside-triphosphatase activity)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR004948(Protein of unknown function DUF265)|refseq:NP_001316382.1 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:tJoP+XQzoa4urq6g1rdZhMWO49g9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q15233 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:5W3ooO4h0qh3GKO+WjDrLBhihHA9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O75376 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-347233|uniprotkb:E9PGV6|uniprotkb:Q86YY0|uniprotkb:Q9UPV5|uniprotkb:Q9UQ18|intact:EBI-28976482|ensembl:ENSP00000268712|uniprotkb:B3DLF8 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ncor1_human(display_long)|uniprotkb:NCOR1(gene name)|psi-mi:NCOR1(display_short)|uniprotkb:KIAA1047(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 dip:DIP-29402N|ensembl:ENSP00000268712|ensembl:ENST00000395848|ensembl:ENSP00000379189|ensembl:ENST00000395851|ensembl:ENSP00000379192|ensembl:ENSG00000141027(gene)|ensembl:ENST00000268712(transcript)|go:"GO:0000118"(histone deacetylase complex)|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:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006325"(chromatin organization)|go:"GO:0016020"(membrane)|go:"GO:0016922"(nuclear receptor binding)|go:"GO:0017053"(transcription repressor complex)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0045475"(locomotor rhythm)|go:"GO:0045820"(negative regulation of glycolytic process)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045922"(negative regulation of fatty acid metabolic process)|go:"GO:0046329"(negative regulation of JNK cascade)|go:"GO:0046966"(thyroid hormone receptor binding)|go:"GO:0051225"(spindle assembly)|go:"GO:0060766"(negative regulation of androgen receptor signaling pathway)|go:"GO:0061629"(RNA polymerase II-specific DNA-binding transcription factor binding)|go:"GO:0072686"(mitotic spindle)|go:"GO:1903799"(negative regulation of production of miRNAs involved in gene silencing by miRNA)|interpro:IPR001005(SANT, DNA-binding)|interpro:IPR009057(Homeodomain-like)|interpro:IPR017884|interpro:IPR017930|interpro:IPR031557|mint:O75376|rcsb pdb:2EQR|rcsb pdb:3KMZ|rcsb pdb:3N00|rcsb pdb:4MDD|rcsb pdb:4WVD|rcsb pdb:6ONI|rcsb pdb:6WMQ|rcsb pdb:6XXS|rcsb pdb:6XYX|rcsb pdb:6XZZ|rcsb pdb:6Y17|rcsb pdb:6ZBU|reactome:R-HSA-1251985|reactome:R-HSA-1368071|reactome:R-HSA-1989781|reactome:R-HSA-2122947|reactome:R-HSA-2151201|reactome:R-HSA-2173795|reactome:R-HSA-2644606|rcsb pdb:3H52|reactome:R-HSA-2894862|reactome:R-HSA-3214815|reactome:R-HSA-350054|reactome:R-HSA-381340|reactome:R-HSA-383280|reactome:R-HSA-400206|reactome:R-HSA-400253|reactome:R-HSA-5617472|reactome:R-HSA-9022537|reactome:R-HSA-9022692|reactome:R-HSA-9029569|reactome:R-HSA-9609690|reactome:R-HSA-9623433|reactome:R-HSA-9707564|reactome:R-HSA-9707616|refseq:XP_011522388.1|refseq:NP_001177369.1|refseq:NP_006302.2|refseq:NP_001177367.1 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:8W82xLRBbuJwVpXSvxoGQBu0v7Y9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q15788 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-455189|uniprotkb:O00150|uniprotkb:O43792|uniprotkb:O43793|uniprotkb:Q13071|uniprotkb:Q13420|uniprotkb:Q2T9G5|uniprotkb:Q53SX3|uniprotkb:Q6GVI5|uniprotkb:Q7KYV3|ensembl:ENSP00000320940|ensembl:ENSP00000385216 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ncoa1_human(display_long)|uniprotkb:Steroid receptor coactivator 1(gene name synonym)|uniprotkb:RIP160(gene name synonym)|uniprotkb:Protein Hin-2(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-52(gene name synonym)|uniprotkb:NCOA1(gene name)|psi-mi:NCOA1(display_short)|uniprotkb:SRC1(gene name synonym)|uniprotkb:BHLHE74(gene name synonym)|uniprotkb:Class E basic helix-loop-helix protein 74(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_671756.1|refseq:NP_671766.1|refseq:NP_003734.3|ensembl:ENSP00000379197|ensembl:ENST00000405141|ensembl:ENSP00000385097|ensembl:ENSP00000385216|ensembl:ENSP00000320940|ensembl:ENST00000395856|ensembl:ENST00000288599|ensembl:ENSP00000288599|refseq:XP_005264682.1|refseq:XP_005264683.1|refseq:XP_005264685.1|refseq:XP_016860657.1|refseq:XP_016860658.1|dip:DIP-30877N|ensembl:ENSG00000084676(gene)|ensembl:ENST00000348332(transcript)|ensembl:ENST00000406961(transcript)|go:"GO:0000435"(positive regulation of transcription from RNA polymerase II promoter by galactose)|go:"GO:0000785"(chromatin)|go:"GO:0000977"(RNA polymerase II transcription regulatory region sequence-specific DNA binding)|go:"GO:0002155"(regulation of thyroid hormone mediated signaling pathway)|go:"GO:0003682"(chromatin binding)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0004402"(histone acetyltransferase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0007595"(lactation)|go:"GO:0008584"(male gonad development)|go:"GO:0016922"(nuclear receptor binding)|go:"GO:0017162"(aryl hydrocarbon receptor binding)|go:"GO:0019899"(enzyme binding)|go:"GO:0021549"(cerebellum development)|go:"GO:0021766"(hippocampus development)|go:"GO:0021854"(hypothalamus development)|go:"GO:0021987"(cerebral cortex development)|go:"GO:0030331"(estrogen receptor binding)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0032355"(response to estradiol)|go:"GO:0032526"(response to retinoic acid)|go:"GO:0032570"(response to progesterone)|go:"GO:0032870"(cellular response to hormone stimulus)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033142"(progesterone receptor binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043967"(histone H4 acetylation)|go:"GO:0044849"(estrous cycle)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045666"(positive regulation of neuron differentiation)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045925"(positive regulation of female receptivity)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046965"(retinoid X receptor binding)|go:"GO:0046983"(protein dimerization activity)|go:"GO:0047485"(protein N-terminus binding)|go:"GO:0060179"(male mating behavior)|go:"GO:0060713"(labyrinthine layer morphogenesis)|go:"GO:1904017"(cellular response to Thyroglobulin triiodothyronine)|go:"GO:2001038"(regulation of cellular response to drug)|interpro:IPR000014(PAS)|interpro:IPR009110(Nuclear receptor coactivator, interlocking)|interpro:IPR010011(Protein of unknown function DUF1518)|rcsb pdb:2NV7|rcsb pdb:2P54|rcsb pdb:2PRG|rcsb pdb:3BEJ|rcsb pdb:3BQD|rcsb pdb:3CTB|rcsb pdb:3CWD|rcsb pdb:3DCT|rcsb pdb:3DCU|rcsb pdb:3DR1|rcsb pdb:3ET1|rcsb pdb:3ET3|rcsb pdb:3FEI|rcsb pdb:3FEJ|rcsb pdb:3FUR|rcsb pdb:3FXV|rcsb pdb:3G8I|rcsb pdb:3G9E|rcsb pdb:3GYT|rcsb pdb:3GYU|rcsb pdb:3H0A|rcsb pdb:3HC5|rcsb pdb:3HC6|rcsb pdb:3HVL|rcsb pdb:3IPQ|rcsb pdb:3IPS|rcsb pdb:3IPU|rcsb pdb:3KMR|rcsb pdb:3LMP|rcsb pdb:3OKH|rcsb pdb:3OKI|rcsb pdb:3OLF|rcsb pdb:3OLL|rcsb pdb:3OLS|rcsb pdb:3OMK|rcsb pdb:3OMM|rcsb pdb:3OMO|rcsb pdb:3OMP|rcsb pdb:3OMQ|rcsb pdb:3OOF|rcsb pdb:3OOK|rcsb pdb:3P88|rcsb pdb:3P89|rcsb pdb:3QT0|rcsb pdb:3RUT|rcsb pdb:3RUU|rcsb pdb:3RVF|rcsb pdb:3S9S|rcsb pdb:3T03|rcsb pdb:3UU7|rcsb pdb:3UUA|rcsb pdb:3UUD|rcsb pdb:3V9Y|rcsb pdb:3VN2|rcsb pdb:4DK7|rcsb pdb:4DK8|rcsb pdb:4DM6|rcsb pdb:4DM8|interpro:IPR013767(PAS fold)|interpro:IPR014920(Nuclear receptor coactivator, Ncoa-type, interlocking)|interpro:IPR014935(Steroid receptor coactivator)|interpro:IPR017426(Nuclear receptor coactivator)|interpro:IPR028819|interpro:IPR035965|interpro:IPR036638|interpro:IPR037077|mint:Q15788|rcsb pdb:1FM6|rcsb pdb:1FM9|rcsb pdb:1K4W|rcsb pdb:1K74|rcsb pdb:1K7L|rcsb pdb:1KV6|rcsb pdb:1N4H|rcsb pdb:1NQ7|rcsb pdb:1NRL|rcsb pdb:1P8D|rcsb pdb:1PZL|rcsb pdb:1RDT|rcsb pdb:1TFC|rcsb pdb:1U3R|rcsb pdb:1U3S|rcsb pdb:1X76|rcsb pdb:1X78|rcsb pdb:1X7B|rcsb pdb:1X7J|rcsb pdb:1XIU|rcsb pdb:1XV9|rcsb pdb:1XVP|rcsb pdb:1YY4|rcsb pdb:1YYE|rcsb pdb:1ZAF|rcsb pdb:2A3I|rcsb pdb:2C52|rcsb pdb:2FVJ|rcsb pdb:2GTK|rcsb pdb:2HBH|rcsb pdb:2HC4|rcsb pdb:2HCD|rcsb pdb:2HFP|rcsb pdb:2NPA|rcsb pdb:5Q0J|rcsb pdb:5Q0K|rcsb pdb:5Q0L|rcsb pdb:5Q0M|rcsb pdb:5Q0N|rcsb pdb:5Q0O|rcsb pdb:5Q0P|rcsb pdb:5Q0Q|rcsb pdb:5Q0R|rcsb pdb:5Q0S|rcsb pdb:5Q0T|rcsb pdb:5Q0U|rcsb pdb:5Q0V|rcsb pdb:5Q0W|rcsb pdb:5Q0X|rcsb pdb:5Q0Y|rcsb pdb:5Q0Z|rcsb pdb:5Q10|rcsb pdb:5Q11|rcsb pdb:5Q12|rcsb pdb:5Q13|rcsb pdb:5Q14|rcsb pdb:5Q15|rcsb pdb:5Q16|rcsb pdb:5Q18|rcsb pdb:5Q19|rcsb pdb:5Q1A|rcsb pdb:5Q1B|rcsb pdb:5Q1C|rcsb pdb:5DV6|rcsb pdb:5DV8|rcsb pdb:5DVC|rcsb pdb:5DWL|rcsb pdb:5E7V|rcsb pdb:5GTN|rcsb pdb:5GTO|rcsb pdb:5GTP|rcsb pdb:5HJS|rcsb pdb:5JI0|rcsb pdb:5JMM|rcsb pdb:5L7E|rcsb pdb:5L7G|rcsb pdb:5L7H|rcsb pdb:5MWP|rcsb pdb:5MWY|rcsb pdb:5MX7|rcsb pdb:5NKY|rcsb pdb:5NMA|rcsb pdb:5NMB|rcsb pdb:5NWM|rcsb pdb:5OW7|rcsb pdb:5OW9|rcsb pdb:5OWD|rcsb pdb:4G1Z|rcsb pdb:4G20|rcsb pdb:4G21|rcsb pdb:4G2H|rcsb pdb:4HEE|rcsb pdb:4J5X|rcsb pdb:4JYG|rcsb pdb:4JYH|rcsb pdb:4JYI|rcsb pdb:4MG5|rcsb pdb:4MG6|rcsb pdb:4MG7|rcsb pdb:4DQM|rcsb pdb:4MG8|rcsb pdb:4MG9|rcsb pdb:4MGA|rcsb pdb:4MGB|rcsb pdb:4MGC|rcsb pdb:4MGD|rcsb pdb:4RUJ|rcsb pdb:4RUP|rcsb pdb:4TUZ|rcsb pdb:4TV1|rcsb pdb:4UDA|rcsb pdb:4UDB|rcsb pdb:4Y29|rcsb pdb:5A86|rcsb pdb:5AVI|rcsb pdb:5AVL|rcsb pdb:4F9M|rcsb pdb:4FGY|rcsb pdb:4G1D|rcsb pdb:4G1Y|rcsb pdb:5AZT|rcsb pdb:5DSH|rcsb pdb:5DV3|rcsb pdb:6L96|rcsb pdb:6NX1|rcsb pdb:6P9F|rcsb pdb:6SSQ|rcsb pdb:6T2M|rcsb pdb:6TFI|rcsb pdb:6U25|rcsb pdb:6W9H|rcsb pdb:6W9I|rcsb pdb:6XP9|rcsb pdb:7BPY|rcsb pdb:7BPZ|rcsb pdb:7BQ0|rcsb pdb:7BQ1|rcsb pdb:7BQ2|rcsb pdb:7BQ3|rcsb pdb:7BQ4|rcsb pdb:7JYM|rcsb pdb:7KXD|rcsb pdb:7KXE|rcsb pdb:7KXF|reactome:R-HSA-1368082|reactome:R-HSA-1368108|reactome:R-HSA-159418|reactome:R-HSA-192105|reactome:R-HSA-193368|reactome:R-HSA-1989781|reactome:R-HSA-211976|reactome:R-HSA-193807|reactome:R-HSA-2151201|reactome:R-HSA-2426168|reactome:R-HSA-3214847|reactome:R-HSA-381340|reactome:R-HSA-3899300|reactome:R-HSA-400206|reactome:R-HSA-400253|reactome:R-HSA-9018519|reactome:R-HSA-9029569|reactome:R-HSA-9623433|reactome:R-HSA-9707564|reactome:R-HSA-9707616|rcsb pdb:6A5Z|rcsb pdb:6A60|rcsb pdb:6BNS|rcsb pdb:6E3G|rcsb pdb:6FO7|rcsb pdb:6FO8|rcsb pdb:6FO9|rcsb pdb:6FOB|rcsb pdb:6FOD|rcsb pdb:6GEV|rcsb pdb:6GG8|rcsb pdb:5Q1D|rcsb pdb:6HTY|rcsb pdb:6ICJ|rcsb pdb:5Q1E|rcsb pdb:6IJR|rcsb pdb:6IJS|rcsb pdb:6ILQ|rcsb pdb:6ITM|rcsb pdb:6JNR|rcsb pdb:6JQ7|rcsb pdb:5Q1F|rcsb pdb:5Q1G|rcsb pdb:5Q1H|rcsb pdb:5Q1I|rcsb pdb:5X0R|rcsb pdb:5X8U|rcsb pdb:5X8W|rcsb pdb:5Y44|rcsb pdb:5YCN|rcsb pdb:5YCP|rcsb pdb:5YP6|rcsb pdb:6A5W|rcsb pdb:6A5X|rcsb pdb:6A5Y|rcsb pdb:6KTM|rcsb pdb:6KTN|rcsb pdb:6L6K|interpro:IPR011598(Helix-loop-helix DNA-binding) - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:OKjGLyCEDCW1kgUe6qB9bnKO4Rs9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P11586 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-709638|uniprotkb:Q86VC9|uniprotkb:Q9BVP5|uniprotkb:B2R5Y2|uniprotkb:G3V2B8|intact:EBI-21358459|uniprotkb:A0A024R652|uniprotkb:A0A384N5Y3|ensembl:ENSP00000498336|ensembl:ENSP00000498511 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:c1tc_human(display_long)|uniprotkb:MTHFD1(gene name)|psi-mi:MTHFD1(display_short)|uniprotkb:MTHFC(gene name synonym)|uniprotkb:MTHFD(gene name synonym)|uniprotkb:Epididymis secretory sperm binding protein(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_005947.3|dip:DIP-33682N|ensembl:ENSG00000100714(gene)|ensembl:ENST00000651537(transcript)|ensembl:ENST00000652337(transcript)|go:"GO:0000105"(histidine biosynthetic process)|go:"GO:0001843"(neural tube closure)|go:"GO:0004329"(formate-tetrahydrofolate ligase activity)|go:"GO:0004477"(methenyltetrahydrofolate cyclohydrolase activity)|go:"GO:0004486"("methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity")|go:"GO:0004487"("methylenetetrahydrofolate dehydrogenase (NAD+) activity")|go:"GO:0004488"("methylenetetrahydrofolate dehydrogenase (NADP+) activity")|go:"GO:0005524"(ATP binding)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|go:"GO:0006164"(purine nucleotide biosynthetic process)|go:"GO:0006555"(methionine metabolic process)|go:"GO:0006730"(one-carbon metabolic process)|go:"GO:0007507"(heart development)|go:"GO:0009069"(serine family amino acid metabolic process)|go:"GO:0009070"(serine family amino acid biosynthetic process)|go:"GO:0009086"(methionine biosynthetic process)|go:"GO:0009257"(10-formyltetrahydrofolate biosynthetic process)|go:"GO:0016020"(membrane)|go:"GO:0035999"(tetrahydrofolate interconversion)|go:"GO:0048702"(embryonic neurocranium morphogenesis)|go:"GO:0048703"(embryonic viscerocranium morphogenesis)|go:"GO:0061053"(somite development)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000559(Formate-tetrahydrofolate ligase, FTHFS)|interpro:IPR000672(Tetrahydrofolate dehydrogenase/cyclohydrolase)|interpro:IPR020628|interpro:IPR020630|interpro:IPR020631|interpro:IPR020867|interpro:IPR027417|interpro:IPR036291|mint:P11586|rcsb pdb:1A4I|rcsb pdb:1DIA|rcsb pdb:1DIB|rcsb pdb:1DIG|rcsb pdb:6ECP|rcsb pdb:6ECQ|rcsb pdb:6ECR|reactome:R-HSA-196757 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:6ZizfpjVcaL5WNxKXL7qJpw59PI9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9HCE1 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1055820|uniprotkb:Q5JR03|uniprotkb:Q8TEF0|uniprotkb:Q9BSY3|uniprotkb:Q9BUJ9|ensembl:ENSP00000350028|ensembl:ENSP00000358659|ensembl:ENSP00000399797 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:symbA7qOGiAY2NuQXO+5gv/It3k9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q3MHD2 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-725133|uniprotkb:Q86YB1|uniprotkb:Q96NL5|ensembl:ENSP00000293406|ensembl:ENSP00000466718 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:lsm12_human(display_long)|uniprotkb:LSM12(gene name)|psi-mi:LSM12(display_short) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_689557.1|ensembl:ENSG00000161654(gene)|ensembl:ENST00000293406(transcript)|ensembl:ENST00000591247(transcript)|interpro:IPR019181|interpro:IPR039683|mint:Q3MHD2 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:SY9HUXXLZyXhttFb+AXkMh0QOek9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q92615 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1052558|uniprotkb:Q5T3R3|uniprotkb:Q5T3R4|uniprotkb:Q5T3R5|uniprotkb:Q68CY4|uniprotkb:A7MD20|intact:EBI-28969094|ensembl:ENSP00000326128 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:lar4b_human(display_long)|uniprotkb:La ribonucleoprotein domain family member 5(gene name synonym)|uniprotkb:LARP4B(gene name)|psi-mi:LARP4B(display_short)|uniprotkb:LARP5(gene name synonym)|uniprotkb:La-related protein 5(gene name synonym)|uniprotkb:KIAA0217(gene name synonym)|uniprotkb:La ribonucleoprotein domain family member 4B(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_055970.1|ensembl:ENSP00000326128|ensembl:ENSG00000107929(gene)|ensembl:ENST00000316157(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005730"(nucleolus)|go:"GO:0005829"(cytosol)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0016020"(membrane)|go:"GO:0042788"(polysomal ribosome)|go:"GO:0045727"(positive regulation of translation)|go:"GO:1905870"(positive regulation of 3'-UTR-mediated mRNA stabilization)|interpro:IPR006630(RNA-binding protein Lupus La)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034900|interpro:IPR035979|interpro:IPR036388|interpro:IPR036390|rcsb pdb:3PTH - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:tVFpPu0vhCgdRt0lowfi5GzA8Do9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q71RC2 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2878091|ensembl:ENSP00000381490|uniprotkb:Q96NF9|uniprotkb:A8K6T1|uniprotkb:Q6ZV14|uniprotkb:Q5CZ97|uniprotkb:G5E976|uniprotkb:E9PDG5|uniprotkb:G3XAA8 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:larp4_human(display_long)|uniprotkb:LARP4(gene name)|psi-mi:LARP4(display_short)|uniprotkb:La ribonucleoprotein domain family member 4(gene name synonym)|uniprotkb:PP13296(orf name) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000161813(gene)|ensembl:ENST00000398473(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0007010"(cytoskeleton organization)|go:"GO:0008143"("poly(A) binding")|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0010608"(posttranscriptional regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0022604"(regulation of cell morphogenesis)|go:"GO:0045727"(positive regulation of translation)|interpro:IPR006630(RNA-binding protein Lupus La)|interpro:IPR034903|interpro:IPR035979|interpro:IPR036388|interpro:IPR036390|rcsb pdb:2CQK|rcsb pdb:3PKN|rcsb pdb:6I9B|refseq:XP_011536140.1|refseq:NP_001164279.1|refseq:NP_443111.4|refseq:NP_954658.2|refseq:NP_001317344.1|refseq:XP_016874240.1|refseq:XP_016874242.1|refseq:XP_016874243.1|refseq:NP_954660.1|refseq:XP_005268670.1|refseq:XP_011536141.1|refseq:XP_011536142.1|refseq:XP_011536143.1|refseq:XP_016874241.1 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:9FwnSJmbM08zYGHJB3l61hB1lJk9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q6PKG0 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1052114|uniprotkb:O94836|uniprotkb:Q8N4M2|uniprotkb:Q8NB73|uniprotkb:Q9UFD7|ensembl:ENSP00000428589 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:larp1_human(display_long)|uniprotkb:La ribonucleoprotein domain family member 1(gene name synonym)|uniprotkb:LARP1(gene name)|psi-mi:LARP1(display_short)|uniprotkb:KIAA0731(gene name synonym)|uniprotkb:LARP(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_056130.2|ensembl:ENST00000336314|ensembl:ENSP00000336721|ensembl:ENSP00000428589|refseq:XP_005268461.1|ensembl:ENSG00000155506(gene)|ensembl:ENST00000518297(transcript)|go:"GO:0000339"(RNA cap binding)|go:"GO:0000340"(RNA 7-methylguanosine cap binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0006413"(translational initiation)|go:"GO:0008190"(eukaryotic initiation factor 4E binding)|go:"GO:0008283"(cell population proliferation)|go:"GO:0008494"(translation activator activity)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0010608"(posttranscriptional regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0016239"(positive regulation of macroautophagy)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0031369"(translation initiation factor binding)|go:"GO:0031929"(TOR signaling)|go:"GO:0038202"(TORC1 signaling)|go:"GO:0043024"(ribosomal small subunit binding)|go:"GO:0045070"(positive regulation of viral genome replication)|go:"GO:0045296"(cadherin binding)|go:"GO:0045947"(negative regulation of translational initiation)|go:"GO:0045948"(positive regulation of translational initiation)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0048255"(mRNA stabilization)|go:"GO:0072752"(cellular response to rapamycin)|go:"GO:1990928"(response to amino acid starvation)|interpro:IPR006607(Protein of unknown function DM15)|interpro:IPR006630(RNA-binding protein Lupus La)|interpro:IPR036388|interpro:IPR036390|mint:Q6PKG0|rcsb pdb:4ZC4|rcsb pdb:5C0V|rcsb pdb:5V4R|rcsb pdb:5V7C|rcsb pdb:5V87|rcsb pdb:6PW3 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:TjQrZVRN3opAdFIWZtaEopFZf8I9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q12906 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:iri+WBUtektANRSCpBO1XBCd9Wk9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O00425 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1058566|ensembl:ENSP00000258729|uniprotkb:Q63HM0|uniprotkb:A0A4Z5|uniprotkb:Q6MZZ2|uniprotkb:Q86VB1|intact:EBI-2560196 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:if2b3_human(display_long)|uniprotkb:IGF2BP3(gene name)|psi-mi:IGF2BP3(display_short)|uniprotkb:IMP3(gene name synonym)|uniprotkb:KOC1(gene name synonym)|uniprotkb:VICKZ3(gene name synonym)|uniprotkb:IGF-II mRNA-binding protein 3(gene name synonym)|uniprotkb:KH domain-containing protein overexpressed in cancer(gene name synonym)|uniprotkb:VICKZ family member 3(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000136231(gene)|ensembl:ENST00000258729(transcript)|go:"GO:0001817"(regulation of cytokine production)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006412"(translation)|go:"GO:0007399"(nervous system development)|go:"GO:0009653"(anatomical structure morphogenesis)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0045182"(translation regulator activity)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0051028"(mRNA transport)|go:"GO:0051252"(regulation of RNA metabolic process)|interpro:IPR000504(RNA recognition motif, RNP-1)|refseq:NP_006538.2|interpro:IPR004087(K Homology)|dip:DIP-44171N|interpro:IPR004088(K Homology, type 1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034844|interpro:IPR035979|interpro:IPR036612|mint:O00425|rcsb pdb:2E44|rcsb pdb:6FQ1|rcsb pdb:6FQR|rcsb pdb:6GQE|rcsb pdb:6GX6|reactome:R-HSA-428359 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:yGEnYHFP+P05J45ZnHUdcPXHlQA9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9Y6M1 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1024419|intact:EBI-1059063|intact:EBI-1237206|uniprotkb:A0A4Z0|uniprotkb:B3FTN2|uniprotkb:B3FTN3|uniprotkb:B3FTN4|ensembl:ENSP00000371634 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:if2b2_human(display_long)|uniprotkb:IGF-II mRNA-binding protein 2(gene name synonym)|uniprotkb:Hepatocellular carcinoma autoantigen p62(gene name synonym)|uniprotkb:VICKZ family member 2(gene name synonym)|uniprotkb:IGF2BP2(gene name)|psi-mi:IGF2BP2(display_short)|uniprotkb:IMP2(gene name synonym)|uniprotkb:VICKZ2(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001278801.1|refseq:NP_001278802.1|refseq:NP_001278803.1|refseq:NP_001278804.1|refseq:NP_001007226.1|refseq:NP_006539.3|ensembl:ENSG00000073792(gene)|ensembl:ENST00000382199(transcript)|go:"GO:0001817"(regulation of cytokine production)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0007399"(nervous system development)|go:"GO:0009653"(anatomical structure morphogenesis)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0045182"(translation regulator activity)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0051028"(mRNA transport)|go:"GO:0051252"(regulation of RNA metabolic process)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR004087(K Homology)|interpro:IPR004088(K Homology, type 1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR028743|interpro:IPR034843|interpro:IPR035979|interpro:IPR036612|mint:Q9Y6M1|rcsb pdb:2CQH|rcsb pdb:6ROL|reactome:R-HSA-428359|dip:DIP-35539N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:k45UViReMAxCv2cu7+tx+auevQc9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P04792 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-352682|uniprotkb:Q6FI47|uniprotkb:Q96C20|uniprotkb:Q96EI7|uniprotkb:Q9UC34|uniprotkb:Q9UC35|uniprotkb:Q9UC36|uniprotkb:Q9UC31|ensembl:ENSP00000248553|uniprotkb:B2R4N8 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - crc64:1B4DC44A6F6606D5 figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:vrDXIdzP30aHSDLHOh2D4x54eJY9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 intact:EBI-11820565 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 - psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:hspa1a_hspa1b_human-1(display_short)|psi-mi:EBI-11820565(display_long) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:1304"(molecule set) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 - - - comment:P0DMV8,P0DMV9 figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 - - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O43390 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-713419|uniprotkb:S4R3J4|uniprotkb:Q5TEH1|ensembl:ENSP00000304405|ensembl:ENSP00000363741|ensembl:ENSP00000489252|ensembl:ENSP00000489371|uniprotkb:Q9BV64|uniprotkb:Q2L7G6 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:hnrpr_human(display_long)|uniprotkb:HNRPR(gene name synonym)|uniprotkb:HNRNPR(gene name)|psi-mi:HNRNPR(display_short) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:UiOaRbnMd1S2FthR4RWltyq6xT49606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q14103 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-299674|ensembl:ENSP00000313199|uniprotkb:P07029|uniprotkb:Q01858|uniprotkb:Q14100|uniprotkb:Q14101|uniprotkb:Q14102|uniprotkb:Q4W5A1|uniprotkb:A8K9J2|uniprotkb:Q9UCE8|uniprotkb:Q9UCE9 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:hnrpd_human(display_long)|uniprotkb:HNRNPD(gene name)|psi-mi:HNRNPD(display_short)|uniprotkb:AUF1(gene name synonym)|uniprotkb:HNRPD(gene name synonym)|uniprotkb:AU-rich element RNA-binding protein 1(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000138668(gene)|ensembl:ENST00000313899(transcript)|go:"GO:0001889"(liver development)|go:"GO:0003680"(minor groove of adenine-thymine-rich DNA binding)|go:"GO:0003682"(chromatin binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0006396"(RNA processing)|go:"GO:0006401"(RNA catabolic process)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0021549"(cerebellum development)|go:"GO:0032204"(regulation of telomere maintenance)|go:"GO:0035925"(mRNA 3'-UTR AU-rich region binding)|go:"GO:0042162"(telomeric DNA binding)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0042789"(mRNA transcription by RNA polymerase II)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0045202"(synapse)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048255"(mRNA stabilization)|go:"GO:0051592"(response to calcium ion)|go:"GO:0051602"(response to electrical stimulus)|go:"GO:0071230"(cellular response to amino acid stimulus)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:0071732"(cellular response to nitric oxide)|go:"GO:0097167"(circadian regulation of translation)|go:"GO:1901355"(response to rapamycin)|go:"GO:1904355"(positive regulation of telomere capping)|go:"GO:1904383"(response to sodium phosphate)|go:"GO:1904586"(cellular response to putrescine)|go:"GO:1905663"(positive regulation of telomerase RNA reverse transcriptase activity)|go:"GO:1990828"(hepatocyte dedifferentiation)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR012956(CBF, N-terminal)|interpro:IPR035979|mint:Q14103|rcsb pdb:1HD0|rcsb pdb:1HD1|rcsb pdb:1IQT|rcsb pdb:1WTB|rcsb pdb:1X0F|rcsb pdb:2Z5N|rcsb pdb:5IM0|go:"GO:0061158"(3'-UTR-mediated mRNA destabilization)|reactome:R-HSA-450408|reactome:R-HSA-72163|reactome:R-HSA-72203|refseq:NP_001003810.1|refseq:NP_002129.2|refseq:NP_112737.1|refseq:NP_112738.1|dip:DIP-31163N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:LrC0nOpN6jGn3WELs5NEOccNPnw9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q99729 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1044873|uniprotkb:Q04150|uniprotkb:Q8N7U3|uniprotkb:Q9BQ99|intact:EBI-2339961|uniprotkb:B3KNN5|uniprotkb:D3DWP7 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:roaa_human(display_long)|uniprotkb:HNRPAB(gene name synonym)|uniprotkb:APOBEC1-binding protein 1(gene name synonym)|uniprotkb:HNRNPAB(gene name)|psi-mi:HNRNPAB(display_short)|uniprotkb:ABBP1(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_004490.2|refseq:NP_112556.2|go:"GO:0001837"(epithelial to mesenchymal transition)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0010468"(regulation of gene expression)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0090575"(RNA polymerase II transcription regulator complex)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR012956(CBF, N-terminal)|interpro:IPR034846|interpro:IPR035979|rcsb pdb:3S7R|mint:Q99729|dip:DIP-50394N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:NzusDKSvcoVb90LNvXpaMAvg0Oo9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P51991 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1050760|uniprotkb:Q53RW7|uniprotkb:Q6URK5|uniprotkb:D3DPF4|ensembl:ENSP00000376309|ensembl:ENSP00000416340|ensembl:ENSP00000503593|ensembl:ENSP00000504135|ensembl:ENSP00000504152 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:roa3_human(display_long)|uniprotkb:HNRPA3(gene name synonym)|uniprotkb:HNRNPA3(gene name)|psi-mi:HNRNPA3(display_short) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:bbg0nIdhEHomcwtgZhT2yHy7+nU9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q13151 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-724092|ensembl:ENSP00000316042|intact:EBI-1043661|uniprotkb:Q6IB18 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:roa0_human(display_long)|uniprotkb:HNRPA0(gene name synonym)|uniprotkb:HNRNPA0(gene name)|psi-mi:HNRNPA0(display_short) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:buyQxR8FLxd4N6jRhwVsroeGrBw9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P42694 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1210654|uniprotkb:I6L9H4|ensembl:ENSP00000351524 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:helz_human(display_long)|uniprotkb:HELZ(gene name)|psi-mi:HELZ(display_short)|uniprotkb:KIAA0054(gene name synonym)|uniprotkb:DRHC(gene name synonym)|uniprotkb:Down-regulated in human cancers protein(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_055692.2|ensembl:ENSG00000198265(gene)|ensembl:ENST00000358691(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0004386"(helicase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0016020"(membrane)|go:"GO:0016787"(hydrolase activity)|go:"GO:0035194"(post-transcriptional gene silencing by RNA)|go:"GO:0043186"(P granule)|go:"GO:0046872"(metal ion binding)|interpro:IPR000571(Zinc finger, CCCH-type)|dip:DIP-39352N|interpro:IPR027417|interpro:IPR036855|interpro:IPR041677|interpro:IPR041679 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:q+2P+W7RDRl2CyPhdEsvONGaM0U9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O00165 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-357001|uniprotkb:A8W4W9|uniprotkb:A8W4X0|uniprotkb:B4DUJ7|uniprotkb:Q5VYD7|uniprotkb:Q5VYD5|uniprotkb:Q96AU4|uniprotkb:Q9BS80|ensembl:ENSP00000329002 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:hax1_human(display_long)|uniprotkb:HAX1(gene name)|psi-mi:HAX1(display_short)|uniprotkb:HS1BP1(gene name synonym)|uniprotkb:HS1-associating protein X-1(gene name synonym)|uniprotkb:HS1-binding protein 1(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001018238.1|refseq:NP_006109.2|dip:DIP-36771N|ensembl:ENSG00000143575(gene)|ensembl:ENST00000328703(transcript)|go:"GO:0000932"(P-body)|go:"GO:0005635"(nuclear envelope)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0005739"(mitochondrion)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005758"(mitochondrial intermembrane space)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005938"(cell cortex)|go:"GO:0014068"(positive regulation of phosphatidylinositol 3-kinase signaling)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0016529"(sarcoplasmic reticulum)|go:"GO:0019966"(interleukin-1 binding)|go:"GO:0030027"(lamellipodium)|go:"GO:0030136"(clathrin-coated vesicle)|go:"GO:0030833"(regulation of actin filament polymerization)|go:"GO:0030854"(positive regulation of granulocyte differentiation)|go:"GO:0031965"(nuclear membrane)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0047485"(protein N-terminus binding)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0051897"(positive regulation of protein kinase B signaling)|go:"GO:0071345"(cellular response to cytokine stimulus)|go:"GO:1903146"(regulation of autophagy of mitochondrion)|go:"GO:1903214"(regulation of protein targeting to mitochondrion)|go:"GO:2000251"(positive regulation of actin cytoskeleton reorganization)|interpro:IPR017248(HS1-associating, X-1)|mint:O00165 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:XRyEPYge2cQFiWdmOaiNIAxd1yQ9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9Y5Q8 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1045409|uniprotkb:Q8N2U7|uniprotkb:Q8N857|uniprotkb:Q96GD9|uniprotkb:Q9H4P2|uniprotkb:A6NI44|uniprotkb:A6NJB9|uniprotkb:Q5T7U2|uniprotkb:Q5T7U3|intact:EBI-2556713|ensembl:ENSP00000361169 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:tf3c5_human(display_long)|uniprotkb:Transcription factor IIIC subunit epsilon(gene name synonym)|uniprotkb:TF3C-epsilon(gene name synonym)|uniprotkb:Transcription factor IIIC 63 kDa subunit(gene name synonym)|uniprotkb:GTF3C5(gene name)|psi-mi:GTF3C5(display_short)|uniprotkb:CDABP0017(orf name) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001116295.1|refseq:NP_036219.2|ensembl:ENSG00000148308(gene)|ensembl:ENST00000372097(transcript)|go:"GO:0000127"(transcription factor TFIIIC complex)|go:"GO:0003677"(DNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006383"(transcription by RNA polymerase III)|go:"GO:0006384"(transcription initiation from RNA polymerase III promoter)|go:"GO:0035914"(skeletal muscle cell differentiation)|go:"GO:0042791"(5S class rRNA transcription by RNA polymerase III)|go:"GO:0042797"(tRNA transcription by RNA polymerase III)|interpro:IPR019136|interpro:IPR040454|interpro:IPR041499|interpro:IPR042536|mint:Q9Y5Q8|reactome:R-HSA-749476|reactome:R-HSA-76061|reactome:R-HSA-76066|refseq:NP_001273638.1|dip:DIP-50823N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:Cb1wPs3qn4+Up/g7WgOMDEFtp+M9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9HCN4 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-745137|uniprotkb:O76004|uniprotkb:B4DQJ5|uniprotkb:B4DXU4|uniprotkb:B4DQM4|ensembl:ENSP00000476446|uniprotkb:B5MBZ5 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:gpn1_human(display_long)|uniprotkb:XAB1(gene name synonym)|uniprotkb:XPA-binding protein 1(gene name synonym)|uniprotkb:MBD2-interacting protein(gene name synonym)|uniprotkb:GPN1(gene name)|psi-mi:GPN1(display_short)|uniprotkb:MBDIN(gene name synonym)|uniprotkb:HUSSY-23(orf name)|uniprotkb:RNAPII-associated protein 4(gene name synonym)|uniprotkb:RPAP4(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001138519.1|refseq:NP_001138520.1|refseq:NP_001138521.1|refseq:NP_009197.2|ensembl:ENSG00000198522(gene)|ensembl:ENST00000610189(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR004130(Protein of unknown function, ATP binding)|interpro:IPR027417|interpro:IPR030230|mint:Q9HCN4 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:QZOTFh9d1hOcoG1DxAueYEwbOpc9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q6Y7W6 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-765394|uniprotkb:O75137|uniprotkb:Q7Z2Z8|uniprotkb:Q7Z3I2|uniprotkb:Q96HU4|uniprotkb:Q9NV82|uniprotkb:B9EG55|intact:EBI-10969943|uniprotkb:A6H8W4|uniprotkb:E9PBB0|ensembl:ENSP00000362664|ensembl:ENSP00000386537 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ggyf2_human(display_long)|uniprotkb:Trinucleotide repeat-containing gene 15 protein(gene name synonym)|uniprotkb:GIGYF2(gene name)|psi-mi:GIGYF2(display_short)|uniprotkb:KIAA0642(gene name synonym)|uniprotkb:TNRC15(gene name synonym)|uniprotkb:PERQ2(gene name synonym)|uniprotkb:PERQ amino acid-rich with GYF domain-containing protein 2(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001096616.1|refseq:NP_056390.2|refseq:NP_001096617.1|refseq:NP_001096618.1|ensembl:ENSG00000204120(gene)|ensembl:ENST00000373563(transcript)|ensembl:ENST00000409547(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005768"(endosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0007631"(feeding behavior)|go:"GO:0008344"(adult locomotory behavior)|go:"GO:0009791"(post-embryonic development)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016441"(posttranscriptional gene silencing)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0021522"(spinal cord motor neuron differentiation)|go:"GO:0031571"(mitotic G1 DNA damage checkpoint signaling)|go:"GO:0031982"(vesicle)|go:"GO:0032991"(protein-containing complex)|go:"GO:0035264"(multicellular organism growth)|go:"GO:0043204"(perikaryon)|go:"GO:0044267"(cellular protein metabolic process)|go:"GO:0045296"(cadherin binding)|go:"GO:0048009"(insulin-like growth factor receptor signaling pathway)|go:"GO:0048873"(homeostasis of number of cells within a tissue)|go:"GO:0050881"(musculoskeletal movement)|go:"GO:0050885"(neuromuscular process controlling balance)|go:"GO:0061157"(mRNA destabilization)|go:"GO:0070064"(proline-rich region binding)|go:"GO:1990635"(proximal dendrite)|interpro:IPR003169(GYF)|interpro:IPR035445|rcsb pdb:5NVL|rcsb pdb:5NVM|mint:Q6Y7W6 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:LCnAT/BvynGfhb1p3KMftXk8S3Q9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P51116 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-740459|uniprotkb:Q8WUM2|uniprotkb:Q86V09|uniprotkb:B2R9M2|uniprotkb:D3DTQ1|ensembl:ENSP00000250113 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:fxr2_human(display_long)|uniprotkb:FXR2(gene name)|psi-mi:FXR2(display_short)|uniprotkb:FMR1L2(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 interpro:IPR004087(K Homology)|refseq:NP_004851.2|ensembl:ENSG00000129245(gene)|ensembl:ENST00000250113(transcript)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0001934"(positive regulation of protein phosphorylation)|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:0005844"(polysome)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0022625"(cytosolic large ribosomal subunit)|go:"GO:0030424"(axon)|go:"GO:0030426"(growth cone)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0044326"(dendritic spine neck)|go:"GO:0045182"(translation regulator activity)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0051489"(regulation of filopodium assembly)|go:"GO:0098793"(presynapse)|go:"GO:1902737"(dendritic filopodium)|go:"GO:2001022"(positive regulation of response to DNA damage stimulus)|interpro:IPR004088(K Homology, type 1)|interpro:IPR008395(Agenet)|interpro:IPR022034|interpro:IPR032172|interpro:IPR036612|interpro:IPR040148|interpro:IPR040472|interpro:IPR041560|mint:P51116|rcsb pdb:3H8Z - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:NnYgyzD2NRGIO1ZHukr5qy44qRE9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q06787 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-366305|ensembl:ENSP00000359506|uniprotkb:Q5PQZ6|uniprotkb:Q16578|uniprotkb:Q99054|uniprotkb:A6NNH4|uniprotkb:D3DWT0|uniprotkb:D3DWT1|uniprotkb:D3DWT2|uniprotkb:G8JL90 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:fmr1_human(display_long)|uniprotkb:FMR1(gene name)|psi-mi:FMR1(display_short)|uniprotkb:Fragile X mental retardation protein 1(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000102081(gene)|ensembl:ENST00000370475(transcript)|refseq:NP_001172004.1|refseq:NP_001172005.1|refseq:NP_001172010.1|refseq:NP_001172011.1|refseq:NP_002015.1|go:"GO:0043204"(perikaryon)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0034046"("poly(G) binding")|go:"GO:0034644"(cellular response to UV)|go:"GO:0035064"(methylated histone binding)|go:"GO:0035197"(siRNA binding)|go:"GO:0035198"(miRNA binding)|go:"GO:0035613"(RNA stem-loop binding)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|go:"GO:0042734"(presynaptic membrane)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042995"(cell projection)|go:"GO:0043005"(neuron projection)|go:"GO:0043022"(ribosome binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0043679"(axon terminus)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0044326"(dendritic spine neck)|go:"GO:0044830"(modulation by host of viral RNA genome replication)|go:"GO:0045182"(translation regulator activity)|go:"GO:0045202"(synapse)|go:"GO:0045211"(postsynaptic membrane)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0045947"(negative regulation of translational initiation)|go:"GO:0046928"(regulation of neurotransmitter secretion)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0048027"(mRNA 5'-UTR binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051028"(mRNA transport)|go:"GO:0051489"(regulation of filopodium assembly)|go:"GO:0051491"(positive regulation of filopodium assembly)|go:"GO:0060964"(regulation of gene silencing by miRNA)|go:"GO:0060998"(regulation of dendritic spine development)|go:"GO:0060999"(positive regulation of dendritic spine development)|go:"GO:0070840"(dynein complex binding)|go:"GO:0071598"(neuronal ribonucleoprotein granule)|go:"GO:0072711"(cellular response to hydroxyurea)|go:"GO:0097386"(glial cell projection)|go:"GO:0098586"(cellular response to virus)|go:"GO:0098793"(presynapse)|go:"GO:0098794"(postsynapse)|go:"GO:0098908"(regulation of neuronal action potential)|go:"GO:1900453"(negative regulation of long-term synaptic depression)|go:"GO:1901254"(positive regulation of intracellular transport of viral material)|go:"GO:1901386"(negative regulation of voltage-gated calcium channel activity)|go:"GO:1901800"(positive regulation of proteasomal protein catabolic process)|go:"GO:1902373"(negative regulation of mRNA catabolic process)|go:"GO:1902416"(positive regulation of mRNA binding)|go:"GO:1902737"(dendritic filopodium)|go:"GO:1990124"(messenger ribonucleoprotein complex)|go:"GO:1990812"(growth cone filopodium)|go:"GO:1990825"(sequence-specific mRNA binding)|go:"GO:1990904"(ribonucleoprotein complex)|go:"GO:2000301"(negative regulation of synaptic vesicle exocytosis)|interpro:IPR040148|interpro:IPR040472|interpro:IPR041560|mint:Q06787|rcsb pdb:2BKD|rcsb pdb:2FMR|rcsb pdb:2LA5|rcsb pdb:2QND|rcsb pdb:4OVA|rcsb pdb:4QVZ|rcsb pdb:4QW2|rcsb pdb:5DE5|rcsb pdb:5DE8|rcsb pdb:5DEA|rcsb pdb:5UWJ|rcsb pdb:5UWO|go:"GO:2000637"(positive regulation of gene silencing by miRNA)|go:"GO:2000766"(negative regulation of cytoplasmic translation)|go:"GO:2001022"(positive regulation of response to DNA damage stimulus)|interpro:IPR004087(K Homology)|interpro:IPR004088(K Homology, type 1)|interpro:IPR008395(Agenet)|interpro:IPR022034|interpro:IPR032196|interpro:IPR036612|go:"GO:0000775"(chromosome, centromeric region)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0002092"(positive regulation of receptor internalization)|go:"GO:0002151"(G-quadruplex RNA binding)|go:"GO:0003682"(chromatin binding)|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:0005694"(chromosome)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0005845"(mRNA cap binding complex)|go:"GO:0006397"(mRNA processing)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0007215"(glutamate receptor signaling pathway)|go:"GO:0007399"(nervous system development)|go:"GO:0008017"(microtubule binding)|go:"GO:0008266"("poly(U) RNA binding")|go:"GO:0008380"(RNA splicing)|go:"GO:0010369"(chromocenter)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0014069"(postsynaptic density)|go:"GO:0015030"(Cajal body)|go:"GO:0016020"(membrane)|go:"GO:0017148"(negative regulation of translation)|go:"GO:0019897"(extrinsic component of plasma membrane)|go:"GO:0030371"(translation repressor activity)|go:"GO:0030424"(axon)|go:"GO:0030425"(dendrite)|go:"GO:0030426"(growth cone)|go:"GO:0031047"(gene silencing by RNA)|go:"GO:0031369"(translation initiation factor binding)|go:"GO:0032433"(filopodium tip)|go:"GO:0033129"(positive regulation of histone phosphorylation)|go:"GO:0033592"(RNA strand annealing activity)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|dip:DIP-29509N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:+iN/J/MbxTcRwgDezYseEDwLep49606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q6UN15 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1021914|uniprotkb:Q0VGE0|uniprotkb:Q499Y4|uniprotkb:Q49AU3|uniprotkb:Q7Z608|uniprotkb:Q8WVN3|uniprotkb:Q96F80|uniprotkb:Q9H077|intact:EBI-11535474|ensembl:ENSP00000336752|uniprotkb:B4DIR3|uniprotkb:G3XAD6 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:fip1_human(display_long)|uniprotkb:Factor interacting with PAP(gene name synonym)|uniprotkb:FIP1-like 1 protein(gene name synonym)|uniprotkb:Rearranged in hypereosinophilia(gene name synonym)|uniprotkb:FIP1L1(gene name)|psi-mi:FIP1L1(display_short)|uniprotkb:FIP1(gene name synonym)|uniprotkb:RHE(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENST00000306932|ensembl:ENSP00000302993|ensembl:ENSP00000336752|ensembl:ENST00000358575|ensembl:ENSP00000351383|ensembl:ENST00000507922|ensembl:ENSP00000425456|refseq:NP_001128409.1|refseq:NP_001128410.1|refseq:NP_112179.2|ensembl:ENSG00000145216(gene)|ensembl:ENST00000337488(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005847"(mRNA cleavage and polyadenylation specificity factor complex)|go:"GO:0006378"(mRNA polyadenylation)|go:"GO:0098789"(pre-mRNA cleavage required for polyadenylation)|interpro:IPR007854(Fip1)|mint:Q6UN15|rcsb pdb:7K95|reactome:R-HSA-159231|reactome:R-HSA-72163|reactome:R-HSA-72187|reactome:R-HSA-73856|reactome:R-HSA-77595|reactome:R-HSA-9673766|dip:DIP-42503N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:41uK1l8RV99q4k4Z7K9zeG3TJHA9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9Y285 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-725361|uniprotkb:Q9NSD8|uniprotkb:Q9Y4W8|uniprotkb:B4E363|ensembl:ENSP00000320309 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:syfa_human(display_long)|uniprotkb:CML33(gene name synonym)|uniprotkb:FARSA(gene name)|psi-mi:FARSA(display_short)|uniprotkb:FARS(gene name synonym)|uniprotkb:FARSLA(gene name synonym)|uniprotkb:FARSL(gene name synonym)|uniprotkb:Phenylalanyl-tRNA synthetase alpha subunit(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_004452.1|ensembl:ENSG00000179115(gene)|ensembl:ENST00000314606(transcript)|go:"GO:0000049"(tRNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0004826"(phenylalanine-tRNA ligase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006432"(phenylalanyl-tRNA aminoacylation)|go:"GO:0009328"(phenylalanine-tRNA ligase complex)|go:"GO:0016020"(membrane)|go:"GO:0051290"(protein heterotetramerization)|interpro:IPR002319(Phenylalanyl-tRNA synthetase, class IIc)|interpro:IPR004529(Phenylalanyl-tRNA synthetase, class IIc, alpha subunit)|interpro:IPR006195(Aminoacyl-tRNA synthetase, class II)|interpro:IPR036390|interpro:IPR040586|interpro:IPR040724|interpro:IPR040725|mint:Q9Y285|rcsb pdb:3L4G|reactome:R-HSA-379716|dip:DIP-53610N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:FpOCk4Mzmsb2CnIUwUKg5nRg7/U9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9NZB2 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1171960|uniprotkb:A6NGU0|uniprotkb:O60649|uniprotkb:Q14688|uniprotkb:Q4VXF4|uniprotkb:Q4VXF5|uniprotkb:Q4VXG2|uniprotkb:Q96I21|uniprotkb:Q9NZB1|uniprotkb:C4AMC6|uniprotkb:Q86V69|intact:EBI-2560129|ensembl:ENSP00000277165 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:f120a_human(display_long)|uniprotkb:Protein FAM120A(gene name synonym)|uniprotkb:FAM120A(gene name)|psi-mi:FAM120A(display_short)|uniprotkb:C9orf10(gene name synonym)|uniprotkb:KIAA0183(gene name synonym)|uniprotkb:OSSA(gene name synonym)|uniprotkb:Oxidative stress-associated Src activator(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_055427.2|refseq:XP_011516714.1|refseq:NP_001273651.1|refseq:NP_001273652.1|refseq:NP_001273653.1|ensembl:ENSG00000048828(gene)|ensembl:ENST00000277165(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0016020"(membrane)|interpro:IPR026784|interpro:IPR029060|mint:Q9NZB2 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:rUAiAHBq/d4CZZ0K56M5fkb4+dA9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q12926 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-11285353|uniprotkb:D3DRK3|uniprotkb:Q13235|uniprotkb:Q59G15|uniprotkb:Q8NEM4|uniprotkb:Q9H1Q8|ensembl:ENSP00000369460|ensembl:ENSP00000380479|ensembl:ENSP00000440998 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:elav2_human(display_long)|uniprotkb:ELAVL2(gene name)|psi-mi:ELAVL2(display_short)|uniprotkb:ELAV-like neuronal protein 1(gene name synonym)|uniprotkb:HUB(gene name synonym)|uniprotkb:Hu-antigen B(gene name synonym)|uniprotkb:Nervous system-specific RNA-binding protein Hel-N1(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001164666.1|refseq:NP_001164668.1|refseq:NP_004423.2|ensembl:ENSG00000107105(gene)|ensembl:ENST00000380117(transcript)|ensembl:ENST00000397312(transcript)|ensembl:ENST00000544538(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR002343(Paraneoplastic encephalomyelitis antigen)|interpro:IPR006548(Splicing factor ELAV/HuD)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034775|interpro:IPR034914|interpro:IPR034999|interpro:IPR035979|reactome:R-HSA-72163|refseq:XP_016869908.1|refseq:XP_016869909.1|refseq:XP_016869910.1|refseq:XP_016869911.1|refseq:XP_016869912.1|refseq:XP_016869913.1|refseq:XP_016869914.1 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:Z17PDyoxDFJbfrFlvD3xS91rtLk9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O43432 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-464766|uniprotkb:Q5SWC3|ensembl:ENSP00000264211|uniprotkb:Q15597|uniprotkb:Q8NEN1|uniprotkb:Q504Z1|uniprotkb:B9EGQ7 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:if4g3_human(display_long)|uniprotkb:EIF4G3(gene name)|psi-mi:EIF4G3(display_short)|uniprotkb:eIF-4-gamma II(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENST00000264211(transcript)|go:"GO:0000339"(RNA cap binding)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003743"(translation initiation factor activity)|go:"GO:0005829"(cytosol)|go:"GO:0006446"(regulation of translational initiation)|go:"GO:0008135"(translation factor activity, RNA binding)|go:"GO:0016281"(eukaryotic translation initiation factor 4F complex)|interpro:IPR003307(eIF4-gamma/eIF5/eIF2-epsilon)|interpro:IPR003890(MIF4G-like, type 3)|interpro:IPR003891(Initiation factor eIF-4 gamma, MA3)|interpro:IPR016021(MIF4-like, type 1/2/3)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR037585|mint:O43432|rcsb pdb:1HU3|reactome:R-HSA-1169408|ensembl:ENSG00000075151(gene)|refseq:NP_001185732.1|refseq:NP_003751.2|ensembl:ENSP00000264211|ensembl:ENST00000356916|ensembl:ENSP00000349386|ensembl:ENST00000374935|ensembl:ENSP00000364071|ensembl:ENST00000602326|ensembl:ENSP00000473510|ensembl:ENST00000682284|ensembl:ENSP00000507819|refseq:NP_001185731.1|refseq:NP_001185730.1|refseq:XP_016858189.1|refseq:XP_016858197.1|refseq:XP_016858201.1|dip:DIP-33245N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:dN5046U5kz1WfBJD0+NWYMMU6RY9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q04637 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-73711|uniprotkb:O43177|uniprotkb:O95066|uniprotkb:Q5HYG0|uniprotkb:Q6ZN21|uniprotkb:Q8N102|intact:EBI-11020102|uniprotkb:D3DNT4|uniprotkb:D3DNT5|uniprotkb:D3DNT2|uniprotkb:E9PFM1|uniprotkb:G5E9S1|intact:EBI-28974642|ensembl:ENSP00000316879 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:if4g1_human(display_long)|uniprotkb:p220(gene name synonym)|uniprotkb:EIF4G1(gene name)|psi-mi:EIF4G1(display_short)|uniprotkb:EIF4G(gene name synonym)|uniprotkb:EIF4GI(gene name synonym)|uniprotkb:EIF4F(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENST00000342981|ensembl:ENSP00000343450|ensembl:ENSP00000316879|ensembl:ENST00000350481|ensembl:ENSP00000317600|ensembl:ENST00000352767|ensembl:ENSP00000338020|ensembl:ENST00000382330|ensembl:ENSP00000371767|ensembl:ENST00000392537|ensembl:ENSP00000376320|ensembl:ENST00000414031|ensembl:ENSP00000391935|ensembl:ENST00000424196|ensembl:ENSP00000416255|ensembl:ENST00000434061|ensembl:ENSP00000411826|refseq:NP_886553.3|refseq:NP_937884.1|refseq:NP_937885.1|refseq:NP_004944.3|dip:DIP-1161N|ensembl:ENSG00000114867(gene)|ensembl:ENST00000346169(transcript)|go:"GO:0001662"(behavioral fear response)|go:"GO:0002191"(cap-dependent translational initiation)|go:"GO:0003723"(RNA binding)|go:"GO:0003729"(mRNA binding)|go:"GO:0003743"(translation initiation factor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0006412"(translation)|go:"GO:0006413"(translational initiation)|go:"GO:0006446"(regulation of translational initiation)|go:"GO:0008135"(translation factor activity, RNA binding)|go:"GO:0008190"(eukaryotic initiation factor 4E binding)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0010507"(negative regulation of autophagy)|go:"GO:0010801"(negative regulation of peptidyl-threonine phosphorylation)|go:"GO:0010942"(positive regulation of cell death)|go:"GO:0016020"(membrane)|go:"GO:0016281"(eukaryotic translation initiation factor 4F complex)|go:"GO:0030307"(positive regulation of cell growth)|go:"GO:0031369"(translation initiation factor binding)|go:"GO:0031669"(cellular response to nutrient levels)|go:"GO:0032270"(positive regulation of cellular protein metabolic process)|go:"GO:0032502"(developmental process)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0034645"(cellular macromolecule biosynthetic process)|go:"GO:0036493"(positive regulation of translation in response to endoplasmic reticulum stress)|go:"GO:0042802"(identical protein binding)|go:"GO:0045666"(positive regulation of neuron differentiation)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0060964"(regulation of gene silencing by miRNA)|go:"GO:0080135"(regulation of cellular response to stress)|go:"GO:0097009"(energy homeostasis)|go:"GO:1900087"(positive regulation of G1/S transition of mitotic cell cycle)|go:"GO:1901215"(negative regulation of neuron death)|go:"GO:1905537"(positive regulation of eukaryotic translation initiation factor 4F complex assembly)|go:"GO:1905606"(regulation of presynapse assembly)|go:"GO:1905612"(positive regulation of mRNA cap binding)|go:"GO:1905618"(positive regulation of miRNA-mediated gene silencing by inhibition of translation)|go:"GO:1905696"(regulation of polysome binding)|interpro:IPR003307(eIF4-gamma/eIF5/eIF2-epsilon)|interpro:IPR003890(MIF4G-like, type 3)|interpro:IPR003891(Initiation factor eIF-4 gamma, MA3)|interpro:IPR016021(MIF4-like, type 1/2/3)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR037584|mint:Q04637|rcsb pdb:1LJ2|rcsb pdb:1UG3|rcsb pdb:2W97|rcsb pdb:4AZA|rcsb pdb:4F02|rcsb pdb:5EHC|rcsb pdb:5EI3|rcsb pdb:5EIR|rcsb pdb:5T46|rcsb pdb:6ZMW|reactome:R-HSA-1169408|reactome:R-HSA-156827|reactome:R-HSA-166208|reactome:R-HSA-429947|reactome:R-HSA-450408|reactome:R-HSA-72649|reactome:R-HSA-72662|reactome:R-HSA-72702|reactome:R-HSA-72706|reactome:R-HSA-9010553|reactome:R-HSA-975956|reactome:R-HSA-975957 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:0UfVxxWOLUvrvFfcteeTc2RrbhA9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q96N67 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q99615 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-357552|ensembl:ENSP00000406463|uniprotkb:Q7Z784 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:dnjc7_human(display_long)|uniprotkb:DNAJC7(gene name)|psi-mi:DNAJC7(display_short)|uniprotkb:TPR2(gene name synonym)|uniprotkb:TTC2(gene name synonym)|uniprotkb:Tetratricopeptide repeat protein 2(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000168259(gene)|ensembl:ENST00000457167(transcript)|go:"GO:0001671"(ATPase activator activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0006457"(protein folding)|go:"GO:0016020"(membrane)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0051085"(chaperone cofactor-dependent protein refolding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1900034"(regulation of cellular response to heat)|interpro:IPR001623(Heat shock protein DnaJ, N-terminal)|interpro:IPR011990(Tetratricopeptide-like helical)|interpro:IPR019734|interpro:IPR036869|reactome:R-HSA-3371453|refseq:NP_003306.3|refseq:XP_011523469.1|refseq:XP_011523470.1|refseq:XP_011523471.1|refseq:NP_001138238.1|refseq:XP_016880483.1 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:eZ1/nlVA9bOU/N3yrJ3pWrnM1P09606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O75190 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1053164|uniprotkb:A4D232|uniprotkb:O95806|uniprotkb:A8KAG0|uniprotkb:B4DN73|uniprotkb:E9PCZ2|uniprotkb:Q53EN8|uniprotkb:Q59EF2|uniprotkb:Q6FIC8|uniprotkb:Q75MA2|uniprotkb:Q9UIK6|uniprotkb:A8K7D8|ensembl:ENSP00000262177 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:dnjb6_human(display_long)|uniprotkb:Heat shock protein J2(gene name synonym)|uniprotkb:MSJ-1(gene name synonym)|uniprotkb:HHDJ1(gene name synonym)|uniprotkb:DNAJB6(gene name)|psi-mi:DNAJB6(display_short)|uniprotkb:HSJ2(gene name synonym)|uniprotkb:MSJ1(gene name synonym)|uniprotkb:MRJ(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_005485.1|refseq:NP_490647.1|ensembl:ENSG00000105993(gene)|ensembl:ENST00000262177(transcript)|go:"GO:0001671"(ATPase activator activity)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006457"(protein folding)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051087"(chaperone binding)|go:"GO:0060710"(chorio-allantoic fusion)|go:"GO:0060715"(syncytiotrophoblast cell differentiation involved in labyrinthine layer development)|go:"GO:0060717"(chorion development)|go:"GO:0090084"(negative regulation of inclusion body assembly)|go:"GO:1900034"(regulation of cellular response to heat)|interpro:IPR001623(Heat shock protein DnaJ, N-terminal)|interpro:IPR018253|interpro:IPR036869|mint:O75190|rcsb pdb:6U3R|rcsb pdb:6U3S|rcsb pdb:7JSQ|reactome:R-HSA-3371453|go:"GO:0016020"(membrane)|go:"GO:0030018"(Z disc)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0030198"(extracellular matrix organization)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0034504"(protein localization to nucleus)|go:"GO:0042802"(identical protein binding)|go:"GO:0043154"(negative regulation of cysteine-type endopeptidase activity involved in apoptotic process) - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:6X99Uu2SBlHsGCv61ZbwSz4LRp89606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O60884 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-352957|ensembl:ENSP00000314030|uniprotkb:O14711|uniprotkb:B2R7L7 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:c+JdHn0cKVKqRZCvK6DRYWs+zkQ9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P31689 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-347834|ensembl:ENSP00000369127|uniprotkb:Q5T7Q0|uniprotkb:Q86TL9 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:dnja1_human(display_long)|uniprotkb:DNAJA1(gene name)|psi-mi:DNAJA1(display_short)|uniprotkb:DNAJ2(gene name synonym)|uniprotkb:HDJ2(gene name synonym)|uniprotkb:HSJ2(gene name synonym)|uniprotkb:HSPF4(gene name synonym)|uniprotkb:Heat shock 40 kDa protein 4(gene name synonym)|uniprotkb:DnaJ protein homolog 2(gene name synonym)|uniprotkb:Human DnaJ protein 2(gene name synonym)|uniprotkb:Heat shock protein J2(gene name synonym)|uniprotkb:HSDJ(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000086061(gene)|ensembl:ENST00000330899(transcript)|go:"GO:0001664"(G protein-coupled receptor binding)|go:"GO:0001671"(ATPase activator activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|go:"GO:0006457"(protein folding)|go:"GO:0006986"(response to unfolded protein)|go:"GO:0007283"(spermatogenesis)|go:"GO:0009408"(response to heat)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0016020"(membrane)|go:"GO:0030317"(flagellated sperm motility)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0030521"(androgen receptor signaling pathway)|go:"GO:0030957"(Tat protein binding)|go:"GO:0031397"(negative regulation of protein ubiquitination)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0042769"(obsolete DNA damage response, detection of DNA damage)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043508"(negative regulation of JUN kinase activity)|go:"GO:0046872"(metal ion binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050750"(low-density lipoprotein particle receptor binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051087"(chaperone binding)|go:"GO:0051223"(regulation of protein transport)|go:"GO:0055131"(C3HC4-type RING finger domain binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070585"(protein localization to mitochondrion)|go:"GO:0098554"(cytoplasmic side of endoplasmic reticulum membrane)|go:"GO:1901998"(toxin transport)|go:"GO:1903748"(negative regulation of establishment of protein localization to mitochondrion)|go:"GO:1905259"(negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway)|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:IPR018253|interpro:IPR036410|interpro:IPR036869|interpro:IPR044713|mint:P31689|rcsb pdb:2LO1|rcsb pdb:2M6Y|reactome:R-HSA-3371497|rcsb pdb:6E8M|refseq:NP_001530.1 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:YEHeLHYaG2ON2gwuFfqt9Le1Drg9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q92841 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-746012|uniprotkb:Q69YT1|uniprotkb:Q6ICD6|uniprotkb:H3BLZ8|uniprotkb:B1AHM0|ensembl:ENSP00000385536 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ddx17_human(display_long)|uniprotkb:DEAD box protein 17(gene name synonym)|uniprotkb:RNA-dependent helicase p72(gene name synonym)|uniprotkb:DEAD box protein p72(gene name synonym)|uniprotkb:DDX17(gene name)|psi-mi:DDX17(display_short)|uniprotkb:DEAD box protein p82(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_006377.2|ensembl:ENSG00000100201(gene)|ensembl:ENST00000403230(transcript)|go:"GO:0000380"(alternative mRNA splicing, via spliceosome)|go:"GO:0000381"(regulation of alternative mRNA splicing, via spliceosome)|go:"GO:0001837"(epithelial to mesenchymal transition)|go:"GO:0003713"(transcription coactivator activity)|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:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006357"(regulation of transcription by RNA polymerase II)|go:"GO:0006364"(rRNA processing)|go:"GO:0006396"(RNA processing)|go:"GO:0008186"(ATP-dependent activity, acting on RNA)|go:"GO:0010586"(miRNA metabolic process)|go:"GO:0016020"(membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0030520"(intracellular estrogen receptor signaling pathway)|go:"GO:0030521"(androgen receptor signaling pathway)|go:"GO:0031047"(gene silencing by RNA)|go:"GO:0045445"(myoblast differentiation)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0051607"(defense response to virus)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|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:IPR014001(DEAD-like helicase, N-terminal)|interpro:IPR014014(RNA helicase, DEAD-box type, Q motif)|interpro:IPR027417|mint:Q92841|rcsb pdb:6UV0|rcsb pdb:6UV1|rcsb pdb:6UV2|rcsb pdb:6UV3|rcsb pdb:6UV4|reactome:R-HSA-3899300|dip:DIP-29843N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:3UhUuhRSZg/zlM7UPDKYCqNmUho9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q8IUI8 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2872414|ensembl:ENSP00000318804|uniprotkb:Q2MLY7|uniprotkb:A6NJF3|uniprotkb:B2R8C3|uniprotkb:Q9Y6M8|uniprotkb:Q9UNI3 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:crlf3_human(display_long)|uniprotkb:CRLF3(gene name)|psi-mi:CRLF3(display_short)|uniprotkb:CRLM9(gene name synonym)|uniprotkb:CREME9(gene name synonym)|uniprotkb:CYTOR4(gene name synonym)|uniprotkb:P48(gene name synonym)|uniprotkb:Cytokine receptor-like molecule 9(gene name synonym)|uniprotkb:Cytokine receptor-related protein 4(gene name synonym)|uniprotkb:Type I cytokine receptor-like factor p48(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000176390(gene)|ensembl:ENST00000324238(transcript)|go:"GO:0000082"(G1/S transition of mitotic cell cycle)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0042802"(identical protein binding)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046427"(positive regulation of receptor signaling pathway via JAK-STAT)|go:"GO:0051726"(regulation of cell cycle)|interpro:IPR003961(Fibronectin, type III)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036116|mint:Q8IUI8|refseq:NP_057070.3 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:iUxgX/ff546WqMhszXxotEhEZ3c9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q8N684 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-746909|uniprotkb:C9K0Q4|uniprotkb:Q7Z3H9|uniprotkb:Q9H025|uniprotkb:Q9H9V1|uniprotkb:B3KU04|ensembl:ENSP00000378352 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:cpsf7_human(display_long)|uniprotkb:Cleavage and polyadenylation specificity factor 59 kDa subunit(gene name synonym)|uniprotkb:Pre-mRNA cleavage factor Im 59 kDa subunit(gene name synonym)|uniprotkb:CPSF7(gene name)|psi-mi:CPSF7(display_short)|uniprotkb:Cleavage factor Im complex 59 kDa subunit(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001129512.1|refseq:NP_001136037.1|refseq:NP_079087.3|refseq:XP_011543560.1|refseq:XP_011543561.1|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005847"(mRNA cleavage and polyadenylation specificity factor complex)|go:"GO:0005849"(mRNA cleavage factor complex)|go:"GO:0016020"(membrane)|go:"GO:0051262"(protein tetramerization)|go:"GO:0051290"(protein heterotetramerization)|go:"GO:0098789"(pre-mRNA cleavage required for polyadenylation)|go:"GO:0110104"(mRNA alternative polyadenylation)|go:"GO:1990120"(messenger ribonucleoprotein complex assembly)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR034770|interpro:IPR034772|interpro:IPR034773|interpro:IPR035979|mint:Q8N684|rcsb pdb:3N9U|reactome:R-HSA-72163|reactome:R-HSA-72187|reactome:R-HSA-73856|reactome:R-HSA-77595|ensembl:ENSG00000149532(gene)|ensembl:ENST00000394888(transcript)|refseq:XP_005274356.1|reactome:R-HSA-9013422 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:bfliZhw27GRZMSQpYRZ/x/tWGh49606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O95639 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-725860|uniprotkb:Q86TF8|uniprotkb:Q9BTW6|uniprotkb:Q6FGE6|uniprotkb:D6W5S8|ensembl:ENSP00000292476 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:cpsf4_human(display_long)|uniprotkb:Cleavage and polyadenylation specificity factor 30 kDa subunit(gene name synonym)|uniprotkb:NS1 effector domain-binding protein 1(gene name synonym)|uniprotkb:No arches homolog(gene name synonym)|uniprotkb:CPSF4(gene name)|psi-mi:CPSF4(display_short)|uniprotkb:CPSF30(gene name synonym)|uniprotkb:NAR(gene name synonym)|uniprotkb:NEB1(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001075028.1|refseq:NP_006684.1|refseq:NP_001305089.1|refseq:NP_001305090.1|refseq:NP_001305091.1|ensembl:ENSG00000160917(gene)|ensembl:ENST00000292476(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005847"(mRNA cleavage and polyadenylation specificity factor complex)|go:"GO:0008270"(zinc ion binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0098789"(pre-mRNA cleavage required for polyadenylation)|go:"GO:1990837"(sequence-specific double-stranded DNA binding)|interpro:IPR000571(Zinc finger, CCCH-type)|interpro:IPR001878(Zinc finger, CCHC-type)|interpro:IPR036855|interpro:IPR036875|interpro:IPR041686|mint:O95639|rcsb pdb:2D9N|rcsb pdb:2RHK|rcsb pdb:6DNH|rcsb pdb:6FBS|rcsb pdb:6FUW|rcsb pdb:6URG|rcsb pdb:6URO|rcsb pdb:7K95|reactome:R-HSA-159231|reactome:R-HSA-168315|reactome:R-HSA-6784531|reactome:R-HSA-72163|reactome:R-HSA-72187|reactome:R-HSA-73856|reactome:R-HSA-77595|dip:DIP-48675N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:CTNuFmbdKiPNvBJPEHoLi7WvoYM9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q10570 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-347859|ensembl:ENSP00000478145|ensembl:ENSP00000484669|ensembl:ENSP00000495020|ensembl:ENSP00000495102|uniprotkb:Q96AF0 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:cpsf1_human(display_long)|uniprotkb:CPSF1(gene name)|psi-mi:CPSF1(display_short)|uniprotkb:CPSF160(gene name synonym)|uniprotkb:Cleavage and polyadenylation specificity factor 160 kDa subunit(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 rcsb pdb:6F9N|rcsb pdb:6FBS|rcsb pdb:6FUW|rcsb pdb:6URG|rcsb pdb:6URO|reactome:R-HSA-159231|reactome:R-HSA-6784531|reactome:R-HSA-72163|reactome:R-HSA-72187|reactome:R-HSA-73856|rcsb pdb:6DNH|reactome:R-HSA-77595|ensembl:ENSG00000071894(gene)|ensembl:ENSG00000285049(gene)|ensembl:ENST00000616140(transcript)|ensembl:ENST00000620219(transcript)|ensembl:ENST00000643746(transcript)|ensembl:ENST00000644539(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005847"(mRNA cleavage and polyadenylation specificity factor complex)|go:"GO:0006378"(mRNA polyadenylation)|go:"GO:0019899"(enzyme binding)|go:"GO:0035925"(mRNA 3'-UTR AU-rich region binding)|go:"GO:0098789"(pre-mRNA cleavage required for polyadenylation)|interpro:IPR004871(Cleavage and polyadenylation specificity factor, A subunit, C-terminal)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR018846|mint:Q10570|rcsb pdb:6BLY|rcsb pdb:6BM0|refseq:NP_037423.2|dip:DIP-32694N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:YZdY/qkUWUDbe+Dw3g9bY9DFbig9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q17RY0 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2848203|uniprotkb:Q7Z310|uniprotkb:Q9C0J0|uniprotkb:Q8N405|uniprotkb:B7ZLQ7|ensembl:ENSP00000265085 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:cpeb4_human(display_long)|uniprotkb:CPEB4(gene name)|psi-mi:CPEB4(display_short)|uniprotkb:KIAA1673(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001295118.1|refseq:NP_001295120.1|refseq:NP_001295121.1|refseq:NP_001295122.1|refseq:NP_085130.2|go:"GO:0046872"(metal ion binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0071230"(cellular response to amino acid stimulus)|go:"GO:1990124"(messenger ribonucleoprotein complex)|go:"GO:2000766"(negative regulation of cytoplasmic translation)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR032296|interpro:IPR034819|interpro:IPR035979|interpro:IPR038446|mint:Q17RY0|rcsb pdb:2MKI|rcsb pdb:2MKJ|rcsb pdb:5DIF|ensembl:ENSG00000113742(gene)|ensembl:ENST00000265085(transcript)|go:"GO:0000900"(translation repressor activity, mRNA regulatory element binding)|go:"GO:0002931"(response to ischemia)|go:"GO:0003723"(RNA binding)|go:"GO:0003730"(mRNA 3'-UTR binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0008135"(translation factor activity, RNA binding)|go:"GO:0014069"(postsynaptic density)|go:"GO:0030425"(dendrite)|go:"GO:0030426"(growth cone)|go:"GO:0035235"(ionotropic glutamate receptor signaling pathway)|go:"GO:0036294"(cellular response to decreased oxygen levels)|go:"GO:0042149"(cellular response to glucose starvation)|go:"GO:0043005"(neuron projection)|go:"GO:0043022"(ribosome binding)|go:"GO:0043197"(dendritic spine)|go:"GO:0043524"(negative regulation of neuron apoptotic process)|go:"GO:0045202"(synapse) - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:2wZUfRENqFZg7jJg+Yq+0CoI1vw9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q8IWX8 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2555370|uniprotkb:O00302|uniprotkb:Q99492|uniprotkb:Q4G0Y5|uniprotkb:Q8WU30|ensembl:ENSP00000439856 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:Snifq3RgcsxZ8r9MCExHeb242Ss9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q6P1J9 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-930143|uniprotkb:A6NLZ8|uniprotkb:Q6PK51|uniprotkb:Q96A07|uniprotkb:Q9H245|uniprotkb:Q9H5L7|uniprotkb:B2RBR2|ensembl:ENSP00000356405 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:cdc73_human(display_long)|uniprotkb:CDC73(gene name)|psi-mi:CDC73(display_short)|uniprotkb:C1orf28(gene name synonym)|uniprotkb:HRPT2(gene name synonym)|uniprotkb:Cell division cycle protein 73 homolog(gene name synonym)|uniprotkb:Hyperparathyroidism 2 protein(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_078805.3|dip:DIP-37884N|ensembl:ENSG00000134371(gene)|ensembl:ENST00000367435(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000781"(chromosome, telomeric region)|go:"GO:0000993"(RNA polymerase II complex binding)|go:"GO:0001558"(regulation of cell growth)|go:"GO:0001711"(endodermal cell fate commitment)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006368"(transcription elongation from RNA polymerase II promoter)|go:"GO:0006378"(mRNA polyadenylation)|go:"GO:0007049"(cell cycle)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0010390"(histone monoubiquitination)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0016593"(Cdc73/Paf1 complex)|go:"GO:0019827"(stem cell population maintenance)|go:"GO:0030177"(positive regulation of Wnt signaling pathway)|go:"GO:0031442"(positive regulation of mRNA 3'-end processing)|go:"GO:0031648"(protein destabilization)|go:"GO:0032968"(positive regulation of transcription elongation from RNA polymerase II promoter)|go:"GO:0033523"(histone H2B ubiquitination)|go:"GO:0034402"(recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0045638"(negative regulation of myeloid cell differentiation)|go:"GO:0048147"(negative regulation of fibroblast proliferation)|go:"GO:0050680"(negative regulation of epithelial cell proliferation)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:1902808"(positive regulation of cell cycle G1/S phase transition)|go:"GO:2000134"(negative regulation of G1/S transition of mitotic cell cycle)|interpro:IPR007852(RNA polymerase II accessory factor, Cdc73)|interpro:IPR031336|interpro:IPR032041|interpro:IPR038103|mint:Q6P1J9|rcsb pdb:5YDE|rcsb pdb:5YDF|rcsb pdb:6TED|reactome:R-HSA-112382|reactome:R-HSA-201722|reactome:R-HSA-5632684|reactome:R-HSA-674695|reactome:R-HSA-75955|reactome:R-HSA-8866654 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:nuJ2kK0petj8iBr17I2BQzxcVmE9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q00587 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-744130|uniprotkb:Q96GN1|uniprotkb:A8K825|ensembl:ENSP00000249014 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:borg5_human(display_long)|uniprotkb:Binder of Rho GTPases 5(gene name synonym)|uniprotkb:Serum protein MSE55(gene name synonym)|uniprotkb:CEP1(gene name synonym)|uniprotkb:MSE55(gene name synonym)|uniprotkb:CDC42EP1(gene name)|psi-mi:CDC42EP1(display_short)|uniprotkb:BORG5(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_689449.1|refseq:XP_006724170.1|refseq:XP_006724171.1|refseq:XP_006724172.1|ensembl:ENSG00000128283(gene)|ensembl:ENST00000249014(transcript)|go:"GO:0005737"(cytoplasm)|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:0007266"(Rho protein signal transduction)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0012505"(endomembrane system)|go:"GO:0030838"(positive regulation of actin filament polymerization)|go:"GO:0031274"(positive regulation of pseudopodium assembly)|go:"GO:0098641"(cadherin binding involved in cell-cell adhesion)|interpro:IPR000095(PAK-box/P21-Rho-binding)|interpro:IPR029273|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-9013423|refseq:XP_016884030.1 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:Ros/Dvfb6rdmhUyT755WtSswQjQ9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P50990 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-356507|uniprotkb:A6NN54|uniprotkb:Q4VBP8|uniprotkb:B4DEM7|uniprotkb:B4DQH4|ensembl:ENSP00000286788 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:tcpq_human(display_long)|uniprotkb:CCT8(gene name)|psi-mi:CCT8(display_short)|uniprotkb:CCTQ(gene name synonym)|uniprotkb:KIAA0002(gene name synonym)|uniprotkb:CCT-theta(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-15(gene name synonym)|uniprotkb:C21orf112(gene name synonym)|uniprotkb:Chaperonin containing T-complex polypeptide 1 subunit 8(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001269836.1|refseq:NP_001269838.1|refseq:NP_006576.2|go:"GO:0034774"(secretory granule lumen)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0044183"(protein folding chaperone)|go:"GO:0044297"(cell body)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0045296"(cadherin binding)|go:"GO:0046931"(pore complex assembly)|go:"GO:0050821"(protein stabilization)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1901998"(toxin transport)|go:"GO:1904813"(ficolin-1-rich granule lumen)|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:IPR012721(T-complex protein 1, theta subunit)|interpro:IPR017998|interpro:IPR027409|interpro:IPR027410|interpro:IPR027413|mint:P50990|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|go:"GO:0032212"(positive regulation of telomere maintenance via telomerase)|reactome:R-HSA-389957|reactome:R-HSA-389960|reactome:R-HSA-390450|reactome:R-HSA-390471|ensembl:ENSG00000156261(gene)|ensembl:ENST00000286788(transcript)|go:"GO:0002199"(zona pellucida receptor complex)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0005832"(chaperonin-containing T-complex)|go:"GO:0005874"(microtubule)|go:"GO:0005929"(cilium)|go:"GO:0006457"(protein folding)|go:"GO:0007339"(binding of sperm to zona pellucida)|go:"GO:0016887"(ATP hydrolysis activity)|reactome:R-HSA-6798695|reactome:R-HSA-6814122|reactome:R-HSA-5620922|dip:DIP-38124N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:/TlB7Gk2Z9GPvfV3JBE0nWUF34Y9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q8N163 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-355410|uniprotkb:A6NL03|uniprotkb:Q6P0Q9|uniprotkb:Q8N3G7|uniprotkb:Q8N8M1|uniprotkb:Q8TF34|uniprotkb:Q9H9Q9|uniprotkb:Q9HD12|uniprotkb:Q9NT55|ensembl:ENSP00000310670|ensembl:ENSP00000373930|uniprotkb:B2RB79|uniprotkb:D3DSR6 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:ccar2_human(display_long)|uniprotkb:CCAR2(gene name)|psi-mi:CCAR2(display_short)|uniprotkb:Cell division cycle and apoptosis regulator protein 2(gene name synonym)|uniprotkb:DBC1(gene name synonym)|uniprotkb:DBIRD complex subunit KIAA1967(gene name synonym)|uniprotkb:Deleted in breast cancer gene 1 protein(gene name synonym)|uniprotkb:KIAA1967(gene name synonym)|uniprotkb:p30 DBC(gene name synonym)|uniprotkb:NET35(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_066997.3|ensembl:ENSG00000158941(gene)|ensembl:ENST00000308511(transcript)|ensembl:ENST00000389279(transcript)|go:"GO:0000785"(chromatin)|go:"GO:0000993"(RNA polymerase II complex binding)|go:"GO:0003723"(RNA binding)|go:"GO:0004857"(enzyme inhibitor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005759"(mitochondrial matrix)|go:"GO:0005819"(spindle)|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0006397"(mRNA processing)|go:"GO:0006974"(cellular response to DNA damage stimulus)|go:"GO:0007049"(cell cycle)|go:"GO:0008380"(RNA splicing)|go:"GO:0009411"(response to UV)|go:"GO:0016055"(Wnt signaling pathway)|interpro:IPR028811|mint:Q8N163|reactome:R-HSA-3371453|go:"GO:0019899"(enzyme binding)|go:"GO:0030308"(negative regulation of cell growth)|go:"GO:0030374"(nuclear receptor coactivator activity)|go:"GO:0031647"(regulation of protein stability)|go:"GO:0032435"(negative regulation of proteasomal ubiquitin-dependent protein catabolic process)|go:"GO:0032784"(regulation of DNA-templated transcription, elongation)|go:"GO:0042752"(regulation of circadian rhythm)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043086"(negative regulation of catalytic activity)|go:"GO:0043653"(mitochondrial fragmentation involved in apoptotic process)|go:"GO:0044609"(DBIRD complex)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0048511"(rhythmic process)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0090311"(regulation of protein deacetylation)|go:"GO:1902230"(negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage)|go:"GO:2000003"(positive regulation of DNA damage checkpoint)|interpro:IPR011992(EF-Hand type)|interpro:IPR025223|interpro:IPR025224|interpro:IPR025954|dip:DIP-38122N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:GL+fD8W0kadrYrBkuMqoKgbbITU9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q14444 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:3c6ZdBClP/D6jIi8NfzBkMc61pI9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9Y224 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1104547|ensembl:ENSP00000261700 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:rtraf_human(display_long)|uniprotkb:RTRAF(gene name)|psi-mi:RTRAF(display_short)|uniprotkb:C14orf166(gene name synonym)|uniprotkb:CLE7 homolog(gene name synonym)|uniprotkb:CGI-99(orf name) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_057123.1|ensembl:ENSG00000087302(gene)|ensembl:ENST00000261700(transcript)|go:"GO:0000993"(RNA polymerase II complex binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005813"(centrosome)|go:"GO:0005829"(cytosol)|go:"GO:0006388"(tRNA splicing, via endonucleolytic cleavage and ligation)|go:"GO:0006469"(negative regulation of protein kinase activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050658"(RNA transport)|go:"GO:0072669"(tRNA-splicing ligase complex)|go:"GO:0072686"(mitotic spindle)|interpro:IPR019265|mint:Q9Y224|reactome:R-HSA-6784531 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:KRP0BO8XmEAtBag6wdctMHgVaEI9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P46379 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-347552|uniprotkb:A2ADJ7|uniprotkb:A3KQ42|uniprotkb:A3KQ44|uniprotkb:A6NGY6|uniprotkb:A6PWF7|uniprotkb:O95874|uniprotkb:Q5HYL9|uniprotkb:Q5SQ35|uniprotkb:Q5SQ36|uniprotkb:Q5SQ37|uniprotkb:Q5SQ41|uniprotkb:Q5SRP8|uniprotkb:Q5SRP9|uniprotkb:Q5STC1|uniprotkb:Q5STX1|uniprotkb:Q5STX3|uniprotkb:Q96SA6|uniprotkb:Q9BCN4|uniprotkb:B0UX84|uniprotkb:B4DZ12|uniprotkb:B4E3V4|uniprotkb:E7EMZ4|uniprotkb:F8VXY4|ensembl:ENSP00000354368|ensembl:ENSP00000390966|ensembl:ENSP00000397894 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:bag6_human(display_long)|uniprotkb:BAT3(gene name synonym)|uniprotkb:G3(gene name synonym)|uniprotkb:HLA-B-associated transcript 3(gene name synonym)|uniprotkb:Protein G3(gene name synonym)|uniprotkb:BCL2-associated athanogene 6(gene name synonym)|uniprotkb:BAG6(gene name)|psi-mi:BAG6(display_short)|uniprotkb:BAG family molecular chaperone regulator 6(gene name synonym)|uniprotkb:Protein Scythe(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 dip:DIP-31191N|refseq:NP_001092004.1|refseq:NP_001186627.1|refseq:NP_004630.3|refseq:NP_542433.1|refseq:NP_542434.1|refseq:NP_001186626.1|refseq:XP_016866776.1|ensembl:ENSG00000096155(gene)|ensembl:ENSG00000229524(gene)|ensembl:ENSG00000233348(gene)|ensembl:ENST00000361076(transcript)|ensembl:ENST00000449450(transcript)|ensembl:ENST00000451932(transcript)|go:"GO:0001822"(kidney development)|go:"GO:0002429"(immune response-activating cell surface receptor signaling pathway)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006325"(chromatin organization)|go:"GO:0006511"(ubiquitin-dependent protein catabolic process)|go:"GO:0006915"(apoptotic process)|go:"GO:0007130"(synaptonemal complex assembly)|go:"GO:0007283"(spermatogenesis)|go:"GO:0007420"(brain development)|go:"GO:0010498"(proteasomal protein catabolic process)|go:"GO:0016020"(membrane)|go:"GO:0018393"(internal peptidyl-lysine acetylation)|go:"GO:0030101"(natural killer cell activation)|go:"GO:0030154"(cell differentiation)|go:"GO:0030324"(lung development)|go:"GO:0030433"(ubiquitin-dependent ERAD pathway)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031593"(polyubiquitin modification-dependent protein binding)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032435"(negative regulation of proteasomal ubiquitin-dependent protein catabolic process)|go:"GO:0042127"(regulation of cell population proliferation)|go:"GO:0042771"(intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator)|go:"GO:0042802"(identical protein binding)|go:"GO:0043022"(ribosome binding)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045861"(negative regulation of proteolysis)|go:"GO:0045995"(regulation of embryonic development)|go:"GO:0050821"(protein stabilization)|go:"GO:0051787"(misfolded protein binding)|go:"GO:0061857"(endoplasmic reticulum stress-induced pre-emptive quality control)|go:"GO:0070059"(intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070628"(proteasome binding)|go:"GO:0071712"(ER-associated misfolded protein catabolic process)|go:"GO:0071816"(tail-anchored membrane protein insertion into ER membrane)|go:"GO:0071818"(BAT3 complex)|go:"GO:1904294"(positive regulation of ERAD pathway)|go:"GO:1904378"(maintenance of unfolded protein involved in ERAD pathway)|go:"GO:1904379"(protein localization to cytosolic proteasome complex involved in ERAD pathway)|go:"GO:1990381"(ubiquitin-specific protease binding)|interpro:IPR000626(Ubiquitin)|interpro:IPR019954|interpro:IPR021925|interpro:IPR029071|mint:P46379|rcsb pdb:1WX9|rcsb pdb:2N9P|rcsb pdb:4DWF|rcsb pdb:4EEW|rcsb pdb:4WWR|rcsb pdb:6AU8|reactome:R-HSA-9609523|rcsb pdb:4X86 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:ghHlLBbS3yeP2mN6AOoHs+CECKU9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O95429 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2949658|uniprotkb:O95818|uniprotkb:B4E217|ensembl:ENSP00000287322 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:bag4_human(display_long)|uniprotkb:BAG4(gene name)|psi-mi:BAG4(display_short)|uniprotkb:SODD(gene name synonym)|uniprotkb:Bcl-2-associated athanogene 4(gene name synonym)|uniprotkb:Silencer of death domains(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_004865.1|ensembl:ENSP00000287322|ensembl:ENST00000432471|ensembl:ENSP00000393298|refseq:NP_001191807.1|ensembl:ENSG00000156735(gene)|ensembl:ENST00000287322(transcript)|go:"GO:0000774"(adenyl-nucleotide exchange factor activity)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006457"(protein folding)|go:"GO:0010763"(positive regulation of fibroblast migration)|go:"GO:0016020"(membrane)|go:"GO:0030838"(positive regulation of actin filament polymerization)|go:"GO:0031072"(heat shock protein binding)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045785"(positive regulation of cell adhesion)|go:"GO:0050821"(protein stabilization)|go:"GO:0051087"(chaperone binding)|go:"GO:0051496"(positive regulation of stress fiber assembly)|go:"GO:0051897"(positive regulation of protein kinase B signaling)|go:"GO:0071356"(cellular response to tumor necrosis factor)|go:"GO:0071364"(cellular response to epidermal growth factor stimulus)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0090367"(negative regulation of mRNA modification)|go:"GO:0097178"(ruffle assembly)|go:"GO:1903215"(negative regulation of protein targeting to mitochondrion)|go:"GO:2001145"(negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity)|interpro:IPR003103(Apoptosis regulator Bcl-2 protein, BAG)|interpro:IPR036533|interpro:IPR039773|rcsb pdb:1M62|rcsb pdb:1M7K|reactome:R-HSA-3371453|reactome:R-HSA-5655302|reactome:R-HSA-75893|reactome:R-HSA-8853336 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:JtjyLj1+bwjuch67AUn3C70D4cw9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O95816 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-355275|uniprotkb:Q08AS9|uniprotkb:Q6FID0|uniprotkb:B4DXE2|ensembl:ENSP00000359727|intact:EBI-11068407 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:nBGGBIQc/3P0mwp7N/XuTGLOrg89606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q8WWM7 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-948363|ensembl:ENSP00000338718|uniprotkb:O95135|uniprotkb:Q6NVJ8|uniprotkb:Q6PJW6|uniprotkb:Q8IU61|uniprotkb:Q8IU95|uniprotkb:Q8WWM3|uniprotkb:Q8WWM4|uniprotkb:Q8WWM5|uniprotkb:Q8WWM6|uniprotkb:Q99703|uniprotkb:B9EGM2|uniprotkb:E9PAR9|uniprotkb:A8K1R6|uniprotkb:Q63ZY4 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:atx2l_human(display_long)|uniprotkb:Ataxin-2 domain protein(gene name synonym)|uniprotkb:Ataxin-2-related protein(gene name synonym)|uniprotkb:ATXN2L(gene name)|psi-mi:ATXN2L(display_short)|uniprotkb:A2D(gene name synonym)|uniprotkb:A2LG(gene name synonym)|uniprotkb:A2LP(gene name synonym)|uniprotkb:A2RP(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000168488(gene)|ensembl:ENST00000336783(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005829"(cytosol)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0010603"(regulation of cytoplasmic mRNA processing body assembly)|go:"GO:0016020"(membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0034063"(stress granule assembly)|go:"GO:0045296"(cadherin binding)|interpro:IPR009604(Ataxin-2, N-terminal)|interpro:IPR009818(Ataxin-2, C-terminal)|interpro:IPR025852|mint:Q8WWM7|refseq:NP_009176.2|refseq:NP_663760.1|refseq:NP_680780.1|refseq:NP_680781.1|refseq:XP_005255123.1|refseq:NP_059867.3|refseq:NP_680782.1 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:t7lrS10IM/5pt+rrbqBRowZ6b+09606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q99700 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-697691|uniprotkb:Q6ZQZ7|uniprotkb:Q99493|uniprotkb:A6NLD4|uniprotkb:Q24JQ7|ensembl:ENSP00000446576 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:atx2_human(display_long)|uniprotkb:Spinocerebellar ataxia type 2 protein(gene name synonym)|uniprotkb:Trinucleotide repeat-containing gene 13 protein(gene name synonym)|uniprotkb:SCA2(gene name synonym)|uniprotkb:TNRC13(gene name synonym)|uniprotkb:ATXN2(gene name)|psi-mi:ATXN2(display_short)|uniprotkb:ATX2(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_002964.3|refseq:NP_001297052.1|ensembl:ENSG00000204842(gene)|ensembl:ENST00000550104(transcript)|go:"GO:0002091"(negative regulation of receptor internalization)|go:"GO:0003723"(RNA binding)|go:"GO:0005154"(epidermal growth factor receptor binding)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0006417"(regulation of translation)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0010494"(cytoplasmic stress granule)|go:"GO:0010603"(regulation of cytoplasmic mRNA processing body assembly)|go:"GO:0016020"(membrane)|go:"GO:0016070"(RNA metabolic process)|go:"GO:0033962"(P-body assembly)|go:"GO:0034063"(stress granule assembly)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050658"(RNA transport)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR009604(Ataxin-2, N-terminal)|interpro:IPR009818(Ataxin-2, C-terminal)|interpro:IPR010920(Like-Sm ribonucleoprotein-related, core)|interpro:IPR025852|interpro:IPR033093|mint:Q99700|rcsb pdb:3KTR|go:"GO:0005737"(cytoplasm)|ensembl:ENST00000535949|ensembl:ENSP00000439338|ensembl:ENSP00000446576|ensembl:ENST00000616825|ensembl:ENSP00000481448|dip:DIP-33372N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:HGRv/9J/X3JIj2KmcHviwd2ygPw9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9BQE5 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-4290634|uniprotkb:B0QYK7|uniprotkb:Q5TH96|uniprotkb:O95915|uniprotkb:Q59GW9|uniprotkb:Q969T6|uniprotkb:Q9BT28|uniprotkb:Q9UGT1|uniprotkb:Q9UH10|intact:EBI-28986438|ensembl:ENSP00000249066|ensembl:ENSP00000351292 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:apol2_human(display_long)|uniprotkb:APOL2(gene name)|psi-mi:APOL2(display_short)|uniprotkb:Apolipoprotein L-II(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000128335(gene)|ensembl:ENST00000249066(transcript)|ensembl:ENST00000358502(transcript)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0006629"(lipid metabolic process)|go:"GO:0006869"(lipid transport)|go:"GO:0006953"(acute-phase response)|go:"GO:0007275"(multicellular organism development)|go:"GO:0008035"(high-density lipoprotein particle binding)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0008289"(lipid binding)|go:"GO:0016020"(membrane)|go:"GO:0042157"(lipoprotein metabolic process)|go:"GO:0060135"(maternal process involved in female pregnancy)|interpro:IPR008405(Apolipoprotein L)|refseq:XP_011528376.1|refseq:XP_011528377.1|refseq:XP_011528378.1|refseq:XP_011528379.1|refseq:XP_011528380.1|refseq:NP_112092.2|refseq:NP_663612.2|ensembl:ENSP00000249066|ensembl:ENSP00000351292 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:7nHWWzmsRPST/D9qi3UjMhAck589606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q4VCS5 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2511319|ensembl:ENSP00000361027|uniprotkb:Q504X5|uniprotkb:Q9UPT1|uniprotkb:Q9HD27 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:amot_human(display_long)|uniprotkb:AMOT(gene name)|psi-mi:AMOT(display_short)|uniprotkb:KIAA1071(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 ensembl:ENSG00000126016(gene)|ensembl:ENST00000371959(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001570"(vasculogenesis)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0001702"(gastrulation with mouth forming second)|go:"GO:0001725"(stress fiber)|go:"GO:0001726"(ruffle)|go:"GO:0003365"(establishment of cell polarity involved in ameboidal cell migration)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0006935"(chemotaxis)|go:"GO:0007043"(cell-cell junction assembly)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016525"(negative regulation of angiogenesis)|go:"GO:0030027"(lamellipodium)|go:"GO:0030036"(actin cytoskeleton organization)|go:"GO:0030054"(cell junction)|go:"GO:0030139"(endocytic vesicle)|go:"GO:0030334"(regulation of cell migration)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0034260"(negative regulation of GTPase activity)|go:"GO:0034613"(cellular protein localization)|go:"GO:0035329"(hippo signaling)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0040019"(positive regulation of embryonic development)|go:"GO:0042074"(cell migration involved in gastrulation)|go:"GO:0043116"(negative regulation of vascular permeability)|go:"GO:0043532"(angiostatin binding)|go:"GO:0043534"(blood vessel endothelial cell migration)|go:"GO:0043536"(positive regulation of blood vessel endothelial cell migration)|go:"GO:0045793"(positive regulation of cell size)|go:"GO:0051056"(regulation of small GTPase mediated signal transduction)|go:"GO:0051496"(positive regulation of stress fiber assembly)|interpro:IPR009114(Angiomotin)|interpro:IPR024646|mint:Q4VCS5|rcsb pdb:6JJX|reactome:R-HSA-2028269|refseq:XP_011529177.1|refseq:NP_001106962.1|refseq:NP_573572.1|refseq:XP_005262144.1|refseq:XP_005262147.1|refseq:XP_016884778.1|dip:DIP-53711N - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:5O9K+GgX1s0Hn5optTeKPOs+X1s9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q86V81 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-347640|uniprotkb:O43672 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:thoc4_human(display_long)|uniprotkb:ALYREF(gene name)|psi-mi:ALYREF(display_short)|uniprotkb:ALY(gene name synonym)|uniprotkb:Ally of AML-1 and LEF-1(gene name synonym)|uniprotkb:Aly/REF export factor(gene name synonym)|uniprotkb:BEF(gene name synonym)|uniprotkb:THOC4(gene name synonym)|uniprotkb:Transcriptional coactivator Aly/REF(gene name synonym)|uniprotkb:bZIP-enhancing factor BEF(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_005773.3|mint:Q86V81|dip:DIP-32711N|go:"GO:0000018"(regulation of DNA recombination)|go:"GO:0000346"(transcription export complex)|go:"GO:0000398"(mRNA splicing, via spliceosome)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006405"(RNA export from nucleus)|go:"GO:0006406"(mRNA export from nucleus)|go:"GO:0016020"(membrane)|go:"GO:0016607"(nuclear speck)|go:"GO:0031297"(replication fork processing)|go:"GO:0032786"(positive regulation of DNA-templated transcription, elongation)|go:"GO:0046784"(viral mRNA export from host cell nucleus)|go:"GO:0062153"(C5-methylcytidine-containing RNA binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071013"(catalytic step 2 spliceosome)|interpro:IPR000504(RNA recognition motif, RNP-1)|interpro:IPR012677(Nucleotide-binding, alpha-beta plait)|interpro:IPR035979|rcsb pdb:3ULH|reactome:R-HSA-159227|reactome:R-HSA-159230|reactome:R-HSA-159231|reactome:R-HSA-159236|reactome:R-HSA-72163|reactome:R-HSA-72187|reactome:R-HSA-73856|interpro:IPR025715 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:beNqQmz9NZk8EdpXoQs0lIxOvTk9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:P49419 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-726842|uniprotkb:O14619|uniprotkb:Q6IPU8|uniprotkb:B4DIC7|uniprotkb:Q9BUL4|uniprotkb:B2R669|uniprotkb:B4DMA0|uniprotkb:E7EPT3|ensembl:ENSP00000387123 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:al7a1_human(display_long)|uniprotkb:Betaine aldehyde dehydrogenase(gene name synonym)|uniprotkb:Aldehyde dehydrogenase family 7 member A1(gene name synonym)|uniprotkb:Antiquitin-1(gene name synonym)|uniprotkb:ALDH7A1(gene name)|psi-mi:ALDH7A1(display_short)|uniprotkb:ATQ1(gene name synonym)|uniprotkb:Delta1-piperideine-6-carboxylate dehydrogenase(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001173.2|refseq:NP_001188306.1|refseq:NP_001189333.2|ensembl:ENSG00000164904(gene)|ensembl:ENST00000409134(transcript)|go:"GO:0004029"("aldehyde dehydrogenase (NAD+) activity")|go:"GO:0004043"(L-aminoadipate-semialdehyde dehydrogenase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005739"(mitochondrion)|go:"GO:0005759"(mitochondrial matrix)|go:"GO:0005829"(cytosol)|go:"GO:0006081"(cellular aldehyde metabolic process)|go:"GO:0007605"(sensory perception of sound)|go:"GO:0008802"(betaine-aldehyde dehydrogenase activity)|go:"GO:0019285"(glycine betaine biosynthetic process from choline)|go:"GO:0042426"(choline catabolic process)|go:"GO:0042802"(identical protein binding)|go:"GO:0043878"("glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity")|go:"GO:0070062"(extracellular exosome)|interpro:IPR015590(Aldehyde dehydrogenase)|interpro:IPR016161(Aldehyde/histidinol dehydrogenase)|interpro:IPR016162(Aldehyde dehydrogenase, N-terminal)|interpro:IPR016163(Aldehyde dehydrogenase, C-terminal)|interpro:IPR029510|interpro:IPR044638|rcsb pdb:2J6L|rcsb pdb:4X0T|rcsb pdb:4X0U|rcsb pdb:4ZUK|rcsb pdb:4ZUL|rcsb pdb:4ZVW|rcsb pdb:4ZVX|rcsb pdb:4ZVY|rcsb pdb:6O4B|rcsb pdb:6O4C|rcsb pdb:6O4E|rcsb pdb:6O4F|rcsb pdb:6O4G|rcsb pdb:6O4H|rcsb pdb:6O4I|rcsb pdb:6O4K|rcsb pdb:6O4L|rcsb pdb:6U2X|rcsb pdb:6V0Z|reactome:R-HSA-6798163|reactome:R-HSA-71064|rcsb pdb:6O4D - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:3UZ9c2xuwZ9b8vbbPbB77aRoKbg9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:Q9ULX6 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-357530|uniprotkb:O94792|uniprotkb:Q96J58|uniprotkb:Q9NRQ0|uniprotkb:Q9UGM0|uniprotkb:B5BU90|uniprotkb:B4DJ74|ensembl:ENSP00000380557 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:akp8l_human(display_long)|uniprotkb:AKAP8L(gene name)|psi-mi:AKAP8L(display_short)|uniprotkb:HRIHFB2018(orf name)|uniprotkb:NAKAP95(gene name synonym)|uniprotkb:Neighbor of A-kinase-anchoring protein 95(gene name synonym)|uniprotkb:Homologous to AKAP95 protein(gene name synonym)|uniprotkb:Helicase A-binding protein 95(gene name synonym)|uniprotkb:NAKAP(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_001278407.1|refseq:NP_055186.3|dip:DIP-27541N|ensembl:ENSG00000011243(gene)|ensembl:ENST00000397410(transcript)|go:"GO:0000785"(chromatin)|go:"GO:0003677"(DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005521"(lamin binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0006397"(mRNA processing)|go:"GO:0007076"(mitotic chromosome condensation)|go:"GO:0008380"(RNA splicing)|go:"GO:0010793"(regulation of mRNA export from nucleus)|go:"GO:0016363"(nuclear matrix)|go:"GO:0016605"(PML body)|go:"GO:0016607"(nuclear speck)|go:"GO:0017151"(DEAD/H-box RNA helicase binding)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0033127"(regulation of histone phosphorylation)|go:"GO:0034237"(protein kinase A regulatory subunit binding)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0044839"(cell cycle G2/M phase transition)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|go:"GO:0051081"(nuclear membrane disassembly)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR007071("A-kinase anchoring protein 95 (AKAP95)")|interpro:IPR034736|mint:Q9ULX6 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:SAs8jxuWxLOiWN/TRyjVvr5m/5Y9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O43823 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-1237481|ensembl:ENSP00000269701 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:akap8_human(display_long)|uniprotkb:AKAP8(gene name)|psi-mi:AKAP8(display_short)|uniprotkb:AKAP95(gene name synonym)|uniprotkb:A-kinase anchor protein 95 kDa(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_005849.1|dip:DIP-38194N|ensembl:ENSG00000105127(gene)|ensembl:ENST00000269701(transcript)|go:"GO:0000278"(mitotic cell cycle)|go:"GO:0000793"(condensed chromosome)|go:"GO:0001939"(female pronucleus)|go:"GO:0003690"(double-stranded DNA binding)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0007076"(mitotic chromosome condensation)|go:"GO:0007165"(signal transduction)|go:"GO:0008270"(zinc ion binding)|go:"GO:0015031"(protein transport)|go:"GO:0016020"(membrane)|go:"GO:0016363"(nuclear matrix)|go:"GO:0031065"(positive regulation of histone deacetylation)|go:"GO:0032720"(negative regulation of tumor necrosis factor production)|go:"GO:0033127"(regulation of histone phosphorylation)|go:"GO:0034237"(protein kinase A regulatory subunit binding)|go:"GO:0042826"(histone deacetylase binding)|go:"GO:0044839"(cell cycle G2/M phase transition)|go:"GO:0045087"(innate immune response)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071380"(cellular response to prostaglandin E stimulus)|interpro:IPR007071("A-kinase anchoring protein 95 (AKAP95)")|interpro:IPR034736|mint:O43823|go:"GO:0051059"(NF-kappaB binding) - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:VtRlGSvkRqrzAcnq2Fj6fToZifY9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:Q6ZNJ1 uniprotkb:O00170 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-704197|uniprotkb:Q2M3Q2|uniprotkb:Q99606|uniprotkb:A0SZW3|uniprotkb:A0SZW4|uniprotkb:A0SZW5|uniprotkb:A0SZW6|ensembl:ENSP00000279146 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:aip_human(display_long)|uniprotkb:Aryl-hydrocarbon receptor-interacting protein(gene name synonym)|uniprotkb:Immunophilin homolog ARA9(gene name synonym)|uniprotkb:HBV X-associated protein 2(gene name synonym)|uniprotkb:AIP(gene name)|psi-mi:AIP(display_short)|uniprotkb:XAP2(gene name synonym) psi-mi:"MI:0676"(tandem affinity purification) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749633|imex:IM-26276-40 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_003968.3|refseq:NP_001289888.1|refseq:NP_001289889.1|dip:DIP-34068N|ensembl:ENSG00000110711(gene)|ensembl:ENST00000279146(transcript)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0003755"(peptidyl-prolyl cis-trans isomerase activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006626"(protein targeting to mitochondrion)|go:"GO:0006805"(xenobiotic metabolic process)|go:"GO:0008134"(transcription factor binding)|go:"GO:0010738"(regulation of protein kinase A signaling)|go:"GO:0016020"(membrane)|go:"GO:0017162"(aryl hydrocarbon receptor binding)|go:"GO:0022417"(protein maturation by protein folding)|go:"GO:0034751"(aryl hydrocarbon receptor complex)|go:"GO:0036004"(GAF domain binding)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0051344"(negative regulation of cyclic-nucleotide phosphodiesterase activity)|interpro:IPR001179(Peptidyl-prolyl cis-trans isomerase, FKBP-type)|interpro:IPR011990(Tetratricopeptide-like helical)|interpro:IPR019734|interpro:IPR031208|interpro:IPR039663|mint:O00170|rcsb pdb:2LKN|rcsb pdb:4AIF|rcsb pdb:4APO|reactome:R-HSA-8937144|reactome:R-HSA-8950505 - - - figure legend:Table S2--|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2021/06/18 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:uCcvOG+bNnmT2zzm58nXhAzKbWo9606 - false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:O15027 uniprotkb:Q6ZNJ1 intact:EBI-357515|intact:EBI-1384174|uniprotkb:A1YCA4|uniprotkb:Q5SXP0|uniprotkb:Q5SXP1|uniprotkb:Q8N347|uniprotkb:Q96HP1|uniprotkb:J3KNL6|uniprotkb:Q4G0D7|intact:EBI-28968206|ensembl:ENSP00000325827|intact:EBI-10967582|intact:EBI-21024388 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 psi-mi:sc16a_human(display_long)|uniprotkb:KIAA0310(gene name synonym)|uniprotkb:SEC16(gene name synonym)|uniprotkb:SEC16L(gene name synonym)|uniprotkb:SEC16 homolog A(gene name synonym)|uniprotkb:SEC16A(gene name)|psi-mi:SEC16A(display_short) psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749780|imex:IM-26276-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011517562.1|refseq:XP_005266191.1|refseq:XP_011517548.1|refseq:XP_011517549.1|refseq:XP_011517550.1|refseq:XP_011517557.1|refseq:XP_011517559.1|refseq:XP_011517561.1|go:"GO:0070973"(protein localization to endoplasmic reticulum exit site)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR024298|interpro:IPR024340|interpro:IPR024880|mint:O15027|reactome:R-HSA-204005|ensembl:ENSG00000148396(gene)|ensembl:ENST00000313050(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0007029"(endoplasmic reticulum organization)|go:"GO:0007030"(Golgi organization)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0021762"(substantia nigra development)|go:"GO:0031090"(organelle membrane)|go:"GO:0032527"(protein exit from endoplasmic reticulum)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0043000"(Golgi to plasma membrane CFTR protein transport)|go:"GO:0048208"(COPII vesicle coating)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050821"(protein stabilization)|go:"GO:0070863"(positive regulation of protein exit from endoplasmic reticulum)|go:"GO:0070971"(endoplasmic reticulum exit site)|ensembl:ENSP00000325827|refseq:NP_055681.1|refseq:XP_011517554.1|refseq:NP_001263347.1|dip:DIP-27588N refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 - - - figure legend:Figure 2B|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:yB65QJbL+WBjtWO5UXAx2DCRbwI9606 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rigid:fg8rvp1pAQLcxgVUea+XGHe/5VE false - flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0705"(anti tag western blot) uniprotkb:O15027 uniprotkb:Q96N67 intact:EBI-357515|intact:EBI-1384174|uniprotkb:A1YCA4|uniprotkb:Q5SXP0|uniprotkb:Q5SXP1|uniprotkb:Q8N347|uniprotkb:Q96HP1|uniprotkb:J3KNL6|uniprotkb:Q4G0D7|intact:EBI-28968206|ensembl:ENSP00000325827|intact:EBI-10967582|intact:EBI-21024388 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:sc16a_human(display_long)|uniprotkb:KIAA0310(gene name synonym)|uniprotkb:SEC16(gene name synonym)|uniprotkb:SEC16L(gene name synonym)|uniprotkb:SEC16 homolog A(gene name synonym)|uniprotkb:SEC16A(gene name)|psi-mi:SEC16A(display_short) psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749780|imex:IM-26276-1 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011517562.1|refseq:XP_005266191.1|refseq:XP_011517548.1|refseq:XP_011517549.1|refseq:XP_011517550.1|refseq:XP_011517557.1|refseq:XP_011517559.1|refseq:XP_011517561.1|go:"GO:0070973"(protein localization to endoplasmic reticulum exit site)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR024298|interpro:IPR024340|interpro:IPR024880|mint:O15027|reactome:R-HSA-204005|ensembl:ENSG00000148396(gene)|ensembl:ENST00000313050(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0007029"(endoplasmic reticulum organization)|go:"GO:0007030"(Golgi organization)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0021762"(substantia nigra development)|go:"GO:0031090"(organelle membrane)|go:"GO:0032527"(protein exit from endoplasmic reticulum)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0043000"(Golgi to plasma membrane CFTR protein transport)|go:"GO:0048208"(COPII vesicle coating)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050821"(protein stabilization)|go:"GO:0070863"(positive regulation of protein exit from endoplasmic reticulum)|go:"GO:0070971"(endoplasmic reticulum exit site)|ensembl:ENSP00000325827|refseq:NP_055681.1|refseq:XP_011517554.1|refseq:NP_001263347.1|dip:DIP-27588N 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 - - - figure legend:Figure 2B|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:yB65QJbL+WBjtWO5UXAx2DCRbwI9606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rigid:fg8rvp1pAQLcxgVUea+XGHe/5VE false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q08AM6 uniprotkb:Q6ZNJ1 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 psi-mi:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(gene name synonym) psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749791|imex:IM-26276-19 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 - - - figure legend:Figure 2Bi|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rigid:mX/xiv08bQIt34IkJaG8nvkX7ic false - calmodulin binding protein tag:c-c|sufficient binding region:1908-2754|flag tag:c-c - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0705"(anti tag western blot) uniprotkb:Q08AM6 uniprotkb:Q96N67 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 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:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(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:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749791|imex:IM-26276-19 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 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 - - - figure legend:Figure 2Bi|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rigid:mX/xiv08bQIt34IkJaG8nvkX7ic false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q08AM6 uniprotkb:O15027 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 intact:EBI-357515|intact:EBI-1384174|uniprotkb:A1YCA4|uniprotkb:Q5SXP0|uniprotkb:Q5SXP1|uniprotkb:Q8N347|uniprotkb:Q96HP1|uniprotkb:J3KNL6|uniprotkb:Q4G0D7|intact:EBI-28968206|ensembl:ENSP00000325827|intact:EBI-10967582|intact:EBI-21024388 psi-mi:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(gene name synonym) psi-mi:sc16a_human(display_long)|uniprotkb:KIAA0310(gene name synonym)|uniprotkb:SEC16(gene name synonym)|uniprotkb:SEC16L(gene name synonym)|uniprotkb:SEC16 homolog A(gene name synonym)|uniprotkb:SEC16A(gene name)|psi-mi:SEC16A(display_short) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749791|imex:IM-26276-19 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 refseq:XP_011517562.1|refseq:XP_005266191.1|refseq:XP_011517548.1|refseq:XP_011517549.1|refseq:XP_011517550.1|refseq:XP_011517557.1|refseq:XP_011517559.1|refseq:XP_011517561.1|go:"GO:0070973"(protein localization to endoplasmic reticulum exit site)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR024298|interpro:IPR024340|interpro:IPR024880|mint:O15027|reactome:R-HSA-204005|ensembl:ENSG00000148396(gene)|ensembl:ENST00000313050(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0007029"(endoplasmic reticulum organization)|go:"GO:0007030"(Golgi organization)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0021762"(substantia nigra development)|go:"GO:0031090"(organelle membrane)|go:"GO:0032527"(protein exit from endoplasmic reticulum)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0043000"(Golgi to plasma membrane CFTR protein transport)|go:"GO:0048208"(COPII vesicle coating)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050821"(protein stabilization)|go:"GO:0070863"(positive regulation of protein exit from endoplasmic reticulum)|go:"GO:0070971"(endoplasmic reticulum exit site)|ensembl:ENSP00000325827|refseq:NP_055681.1|refseq:XP_011517554.1|refseq:NP_001263347.1|dip:DIP-27588N - - - figure legend:Figure 2Bi|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 rogid:yB65QJbL+WBjtWO5UXAx2DCRbwI9606 rigid:mX/xiv08bQIt34IkJaG8nvkX7ic false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q96N67 uniprotkb:Q08AM6 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 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(gene name synonym) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749803|imex:IM-26276-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) 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 refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 - - - figure legend:Figure 2Bii|comment:"It is stated that \"endogenous Dock7 pulled-down PBW-FTAP and Vac14 (Figure 2B, Figure S5)\"."|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2018/01/29 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 rigid:cRrxZqHsQ0h4obRcwH8gNY/0yd0 false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q96N67 uniprotkb:Q6ZNJ1 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 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749803|imex:IM-26276-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) 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 refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 - - - figure legend:Figure 2Bii|comment:"It is stated that \"endogenous Dock7 pulled-down PBW-FTAP and Vac14 (Figure 2B, Figure S5)\"."|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2018/01/29 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rigid:cRrxZqHsQ0h4obRcwH8gNY/0yd0 false - calmodulin binding protein tag:c-c|sufficient binding region:1908-2754|flag tag:c-c - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0705"(anti tag western blot) uniprotkb:Q08AM6 uniprotkb:O15027 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 intact:EBI-357515|intact:EBI-1384174|uniprotkb:A1YCA4|uniprotkb:Q5SXP0|uniprotkb:Q5SXP1|uniprotkb:Q8N347|uniprotkb:Q96HP1|uniprotkb:J3KNL6|uniprotkb:Q4G0D7|intact:EBI-28968206|ensembl:ENSP00000325827|intact:EBI-10967582|intact:EBI-21024388 psi-mi:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(gene name synonym) psi-mi:sc16a_human(display_long)|uniprotkb:KIAA0310(gene name synonym)|uniprotkb:SEC16(gene name synonym)|uniprotkb:SEC16L(gene name synonym)|uniprotkb:SEC16 homolog A(gene name synonym)|uniprotkb:SEC16A(gene name)|psi-mi:SEC16A(display_short) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16750093|imex:IM-26276-35 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 refseq:XP_011517562.1|refseq:XP_005266191.1|refseq:XP_011517548.1|refseq:XP_011517549.1|refseq:XP_011517550.1|refseq:XP_011517557.1|refseq:XP_011517559.1|refseq:XP_011517561.1|go:"GO:0070973"(protein localization to endoplasmic reticulum exit site)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR024298|interpro:IPR024340|interpro:IPR024880|mint:O15027|reactome:R-HSA-204005|ensembl:ENSG00000148396(gene)|ensembl:ENST00000313050(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0007029"(endoplasmic reticulum organization)|go:"GO:0007030"(Golgi organization)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0021762"(substantia nigra development)|go:"GO:0031090"(organelle membrane)|go:"GO:0032527"(protein exit from endoplasmic reticulum)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0043000"(Golgi to plasma membrane CFTR protein transport)|go:"GO:0048208"(COPII vesicle coating)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050821"(protein stabilization)|go:"GO:0070863"(positive regulation of protein exit from endoplasmic reticulum)|go:"GO:0070971"(endoplasmic reticulum exit site)|ensembl:ENSP00000325827|refseq:NP_055681.1|refseq:XP_011517554.1|refseq:NP_001263347.1|dip:DIP-27588N - - - figure legend:Supp. Figure 5|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 rogid:yB65QJbL+WBjtWO5UXAx2DCRbwI9606 rigid:HGVIiJ4KIqXVRcilbBZo+Oa0Qww false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q08AM6 uniprotkb:Q96N67 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 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:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(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:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16750093|imex:IM-26276-35 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 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 - - - figure legend:Supp. Figure 5|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rigid:HGVIiJ4KIqXVRcilbBZo+Oa0Qww false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:O15027 uniprotkb:Q96N67 intact:EBI-357515|intact:EBI-1384174|uniprotkb:A1YCA4|uniprotkb:Q5SXP0|uniprotkb:Q5SXP1|uniprotkb:Q8N347|uniprotkb:Q96HP1|uniprotkb:J3KNL6|uniprotkb:Q4G0D7|intact:EBI-28968206|ensembl:ENSP00000325827|intact:EBI-10967582|intact:EBI-21024388 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:sc16a_human(display_long)|uniprotkb:KIAA0310(gene name synonym)|uniprotkb:SEC16(gene name synonym)|uniprotkb:SEC16L(gene name synonym)|uniprotkb:SEC16 homolog A(gene name synonym)|uniprotkb:SEC16A(gene name)|psi-mi:SEC16A(display_short) psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-16750105|imex:IM-26276-37 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011517562.1|refseq:XP_005266191.1|refseq:XP_011517548.1|refseq:XP_011517549.1|refseq:XP_011517550.1|refseq:XP_011517557.1|refseq:XP_011517559.1|refseq:XP_011517561.1|go:"GO:0070973"(protein localization to endoplasmic reticulum exit site)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR024298|interpro:IPR024340|interpro:IPR024880|mint:O15027|reactome:R-HSA-204005|ensembl:ENSG00000148396(gene)|ensembl:ENST00000313050(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0007029"(endoplasmic reticulum organization)|go:"GO:0007030"(Golgi organization)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0021762"(substantia nigra development)|go:"GO:0031090"(organelle membrane)|go:"GO:0032527"(protein exit from endoplasmic reticulum)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0043000"(Golgi to plasma membrane CFTR protein transport)|go:"GO:0048208"(COPII vesicle coating)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050821"(protein stabilization)|go:"GO:0070863"(positive regulation of protein exit from endoplasmic reticulum)|go:"GO:0070971"(endoplasmic reticulum exit site)|ensembl:ENSP00000325827|refseq:NP_055681.1|refseq:XP_011517554.1|refseq:NP_001263347.1|dip:DIP-27588N 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 - - - figure legend:Supp. Figure 5-2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:yB65QJbL+WBjtWO5UXAx2DCRbwI9606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rigid:gda63aQGlaKrnaCoS7ovt/SfWrs false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q96N67 uniprotkb:Q08AM6 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 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(gene name synonym) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16750110|imex:IM-26276-17 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) 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 refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 - - - figure legend:Supp. Figure 5-3|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 rigid:HGVIiJ4KIqXVRcilbBZo+Oa0Qww false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q96N67 uniprotkb:O15027 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 intact:EBI-357515|intact:EBI-1384174|uniprotkb:A1YCA4|uniprotkb:Q5SXP0|uniprotkb:Q5SXP1|uniprotkb:Q8N347|uniprotkb:Q96HP1|uniprotkb:J3KNL6|uniprotkb:Q4G0D7|intact:EBI-28968206|ensembl:ENSP00000325827|intact:EBI-10967582|intact:EBI-21024388 psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:sc16a_human(display_long)|uniprotkb:KIAA0310(gene name synonym)|uniprotkb:SEC16(gene name synonym)|uniprotkb:SEC16L(gene name synonym)|uniprotkb:SEC16 homolog A(gene name synonym)|uniprotkb:SEC16A(gene name)|psi-mi:SEC16A(display_short) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16750110|imex:IM-26276-17 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) 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 refseq:XP_011517562.1|refseq:XP_005266191.1|refseq:XP_011517548.1|refseq:XP_011517549.1|refseq:XP_011517550.1|refseq:XP_011517557.1|refseq:XP_011517559.1|refseq:XP_011517561.1|go:"GO:0070973"(protein localization to endoplasmic reticulum exit site)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR024298|interpro:IPR024340|interpro:IPR024880|mint:O15027|reactome:R-HSA-204005|ensembl:ENSG00000148396(gene)|ensembl:ENST00000313050(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0007029"(endoplasmic reticulum organization)|go:"GO:0007030"(Golgi organization)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0021762"(substantia nigra development)|go:"GO:0031090"(organelle membrane)|go:"GO:0032527"(protein exit from endoplasmic reticulum)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0043000"(Golgi to plasma membrane CFTR protein transport)|go:"GO:0048208"(COPII vesicle coating)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050821"(protein stabilization)|go:"GO:0070863"(positive regulation of protein exit from endoplasmic reticulum)|go:"GO:0070971"(endoplasmic reticulum exit site)|ensembl:ENSP00000325827|refseq:NP_055681.1|refseq:XP_011517554.1|refseq:NP_001263347.1|dip:DIP-27588N - - - figure legend:Supp. Figure 5-3|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rogid:yB65QJbL+WBjtWO5UXAx2DCRbwI9606 rigid:HGVIiJ4KIqXVRcilbBZo+Oa0Qww false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q6ZNJ1 uniprotkb:Q96N67 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749838|imex:IM-26276-7 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Figure 2D|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-chrf)|taxid:9606(Human acute megakaryoblastic leukaemia cell line) - 2018/01/16 2018/01/29 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rigid:MpnrFV2HxnENrom9Igq/RJWcjd4 false calmodulin binding protein tag:c-c|sufficient binding region:1908-2754|flag tag:c-c - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q6ZNJ1 uniprotkb:O15027 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-357515|intact:EBI-1384174|uniprotkb:A1YCA4|uniprotkb:Q5SXP0|uniprotkb:Q5SXP1|uniprotkb:Q8N347|uniprotkb:Q96HP1|uniprotkb:J3KNL6|uniprotkb:Q4G0D7|intact:EBI-28968206|ensembl:ENSP00000325827|intact:EBI-10967582|intact:EBI-21024388 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:sc16a_human(display_long)|uniprotkb:KIAA0310(gene name synonym)|uniprotkb:SEC16(gene name synonym)|uniprotkb:SEC16L(gene name synonym)|uniprotkb:SEC16 homolog A(gene name synonym)|uniprotkb:SEC16A(gene name)|psi-mi:SEC16A(display_short) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749851|imex:IM-26276-21 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:XP_011517562.1|refseq:XP_005266191.1|refseq:XP_011517548.1|refseq:XP_011517549.1|refseq:XP_011517550.1|refseq:XP_011517557.1|refseq:XP_011517559.1|refseq:XP_011517561.1|go:"GO:0070973"(protein localization to endoplasmic reticulum exit site)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR024298|interpro:IPR024340|interpro:IPR024880|mint:O15027|reactome:R-HSA-204005|ensembl:ENSG00000148396(gene)|ensembl:ENST00000313050(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0007029"(endoplasmic reticulum organization)|go:"GO:0007030"(Golgi organization)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0021762"(substantia nigra development)|go:"GO:0031090"(organelle membrane)|go:"GO:0032527"(protein exit from endoplasmic reticulum)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0043000"(Golgi to plasma membrane CFTR protein transport)|go:"GO:0048208"(COPII vesicle coating)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050821"(protein stabilization)|go:"GO:0070863"(positive regulation of protein exit from endoplasmic reticulum)|go:"GO:0070971"(endoplasmic reticulum exit site)|ensembl:ENSP00000325827|refseq:NP_055681.1|refseq:XP_011517554.1|refseq:NP_001263347.1|dip:DIP-27588N - - - figure legend:Figure 2D|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-chrf)|taxid:9606(Human acute megakaryoblastic leukaemia cell line) - 2018/01/16 2019/01/23 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:yB65QJbL+WBjtWO5UXAx2DCRbwI9606 rigid:DR3+b7hShvxMEoTGq9BQ2jeKhJw false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754 - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q08AM6 uniprotkb:Q6ZNJ1 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 psi-mi:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(gene name synonym) psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749826|imex:IM-26276-5 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 - - - figure legend:Figure 2D|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-chrf)|taxid:9606(Human acute megakaryoblastic leukaemia cell line) - 2018/01/16 2018/01/29 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rigid:TaD7+PXZGhycxqdyo/FXHIE3g50 false - calmodulin binding protein tag:c-c|sufficient binding region:1908-2754|flag tag:c-c - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0705"(anti tag western blot) uniprotkb:Q6ZNJ1 uniprotkb:Q96N67 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749864|imex:IM-26276-23 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Figure 2E|comment:Endogenous Nbeal2 was also detected when the three interactors were pulled-down in non-transduced CHRF, although the recovery levels for Dock7 and Sec16a were low.|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-chrf)|taxid:9606(Human acute megakaryoblastic leukaemia cell line) - 2018/01/16 2018/01/29 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rigid:MpnrFV2HxnENrom9Igq/RJWcjd4 false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q6ZNJ1 uniprotkb:O15027 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-357515|intact:EBI-1384174|uniprotkb:A1YCA4|uniprotkb:Q5SXP0|uniprotkb:Q5SXP1|uniprotkb:Q8N347|uniprotkb:Q96HP1|uniprotkb:J3KNL6|uniprotkb:Q4G0D7|intact:EBI-28968206|ensembl:ENSP00000325827|intact:EBI-10967582|intact:EBI-21024388 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:sc16a_human(display_long)|uniprotkb:KIAA0310(gene name synonym)|uniprotkb:SEC16(gene name synonym)|uniprotkb:SEC16L(gene name synonym)|uniprotkb:SEC16 homolog A(gene name synonym)|uniprotkb:SEC16A(gene name)|psi-mi:SEC16A(display_short) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749874|imex:IM-26276-9 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:XP_011517562.1|refseq:XP_005266191.1|refseq:XP_011517548.1|refseq:XP_011517549.1|refseq:XP_011517550.1|refseq:XP_011517557.1|refseq:XP_011517559.1|refseq:XP_011517561.1|go:"GO:0070973"(protein localization to endoplasmic reticulum exit site)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR024298|interpro:IPR024340|interpro:IPR024880|mint:O15027|reactome:R-HSA-204005|ensembl:ENSG00000148396(gene)|ensembl:ENST00000313050(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0007029"(endoplasmic reticulum organization)|go:"GO:0007030"(Golgi organization)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0021762"(substantia nigra development)|go:"GO:0031090"(organelle membrane)|go:"GO:0032527"(protein exit from endoplasmic reticulum)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0043000"(Golgi to plasma membrane CFTR protein transport)|go:"GO:0048208"(COPII vesicle coating)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050821"(protein stabilization)|go:"GO:0070863"(positive regulation of protein exit from endoplasmic reticulum)|go:"GO:0070971"(endoplasmic reticulum exit site)|ensembl:ENSP00000325827|refseq:NP_055681.1|refseq:XP_011517554.1|refseq:NP_001263347.1|dip:DIP-27588N - - - figure legend:Figure 2E|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-chrf)|taxid:9606(Human acute megakaryoblastic leukaemia cell line) - 2018/01/16 2019/01/23 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:yB65QJbL+WBjtWO5UXAx2DCRbwI9606 rigid:DR3+b7hShvxMEoTGq9BQ2jeKhJw false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q08AM6 uniprotkb:Q6ZNJ1 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 psi-mi:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(gene name synonym) psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749884|imex:IM-26276-25 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 - - - figure legend:Figure 2E|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-chrf)|taxid:9606(Human acute megakaryoblastic leukaemia cell line) - 2018/01/16 2018/01/29 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rigid:TaD7+PXZGhycxqdyo/FXHIE3g50 false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:P14770 uniprotkb:P07359 intact:EBI-1754109|intact:EBI-2350079|uniprotkb:Q14445|uniprotkb:Q92525|uniprotkb:Q8N1D1|ensembl:ENSP00000303942 intact:EBI-297082|ensembl:ENSP00000329380|uniprotkb:Q14441|uniprotkb:Q16469|uniprotkb:Q8N1F3|uniprotkb:Q8NG39|uniprotkb:Q9HDC7|uniprotkb:Q9UEK1|uniprotkb:Q9UQS4|intact:EBI-6595051|uniprotkb:E7ES66 psi-mi:gpix_human(display_long)|uniprotkb:GP9(gene name)|psi-mi:GP9(display_short)|uniprotkb:Glycoprotein 9(gene name synonym) psi-mi:gp1ba_human(display_long)|uniprotkb:GP1BA(gene name)|psi-mi:GP1BA(display_short)|uniprotkb:Antigen CD42b-alpha(gene name synonym) psi-mi:"MI:0813"(proximity ligation assay) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-16749917|imex:IM-26276-11 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011511003.1|refseq:XP_011511004.1|refseq:NP_000165.1|ensembl:ENSG00000169704(gene)|ensembl:ENST00000307395(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0007155"(cell adhesion)|go:"GO:0007596"(blood coagulation)|interpro:IPR000372(Leucine-rich repeat, cysteine-rich flanking region, N-terminal)|interpro:IPR000483(Cysteine-rich flanking region, C-terminal)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR032675|mint:P14770|rcsb pdb:3REZ|reactome:R-HSA-140837|reactome:R-HSA-430116|reactome:R-HSA-75892|reactome:R-HSA-76009|reactome:R-HSA-9673221|refseq:XP_005247431.1 ensembl:ENSG00000185245(gene)|ensembl:ENST00000329125(transcript)|go:"GO:0000902"(cell morphogenesis)|go:"GO:0005615"(extracellular space)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0007155"(cell adhesion)|interpro:IPR000372(Leucine-rich repeat, cysteine-rich flanking region, N-terminal)|interpro:IPR000483(Cysteine-rich flanking region, C-terminal)|interpro:IPR001611(Leucine-rich repeat)|go:"GO:0007166"(cell surface receptor signaling pathway)|interpro:IPR003591(Leucine-rich repeat, typical subtype)|go:"GO:0007596"(blood coagulation)|go:"GO:0009986"(cell surface)|go:"GO:0015057"(thrombin-activated receptor activity)|go:"GO:0016020"(membrane)|go:"GO:0030168"(platelet activation)|go:"GO:0030193"(regulation of blood coagulation)|go:"GO:0031012"(extracellular matrix)|go:"GO:0031362"(anchored component of external side of plasma membrane)|go:"GO:0042730"(fibrinolysis)|interpro:IPR032675|mint:P07359|rcsb pdb:1GWB|go:"GO:0070062"(extracellular exosome)|rcsb pdb:1K13|go:"GO:0070527"(platelet aggregation)|rcsb pdb:1M0Z|rcsb pdb:1M10|rcsb pdb:1OOK|rcsb pdb:1P8V|rcsb pdb:1P9A|rcsb pdb:1QYY|rcsb pdb:1SQ0|rcsb pdb:1U0N|rcsb pdb:2BP3|rcsb pdb:3P72|rcsb pdb:3PMH|rcsb pdb:4C2A|rcsb pdb:4C2B|rcsb pdb:4CH2|rcsb pdb:4CH8|rcsb pdb:4MGX|rcsb pdb:4YR6|rcsb pdb:6XFQ|reactome:R-HSA-140837|reactome:R-HSA-430116|reactome:R-HSA-75892|reactome:R-HSA-76009|reactome:R-HSA-9673221|reactome:R-HSA-8936459|refseq:NP_000164.5 - - - figure legend:Figure 2F1|comment:strong interaction|comment:positive control|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-megakaryocyte)|taxid:9606(human megakaryocyte) - 2018/01/16 2018/01/29 rogid:ZtxoUr0HvC9yHFE9HXSPRc20Zaw9606 rogid:aiQSNvhZ96a32v89D3KMptd64589606 rigid:AnjqVDMbEZSJ0L7hGM07UeDrFzg false - - - - psi-mi:"MI:0421"(identification by antibody) psi-mi:"MI:0421"(identification by antibody) uniprotkb:Q96N67 uniprotkb:Q6ZNJ1 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 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 psi-mi:dock7_human(display_long)|uniprotkb:DOCK7(gene name)|psi-mi:DOCK7(display_short)|uniprotkb:KIAA1771(gene name synonym) psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:"MI:0813"(proximity ligation assay) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-16749925|imex:IM-26276-13 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) 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 refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 - - - figure legend:Figure 2F2|comment:strong interaction|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-megakaryocyte)|taxid:9606(human megakaryocyte) - 2018/01/16 2018/01/29 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rigid:MpnrFV2HxnENrom9Igq/RJWcjd4 false - - - - psi-mi:"MI:0421"(identification by antibody) psi-mi:"MI:0421"(identification by antibody) uniprotkb:Q08AM6 uniprotkb:Q6ZNJ1 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 psi-mi:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(gene name synonym) psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:"MI:0813"(proximity ligation assay) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-16749930|imex:IM-26276-15 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 - - - figure legend:Figure 2F3|comment:strong interaction|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-megakaryocyte)|taxid:9606(human megakaryocyte) - 2018/01/16 2018/01/29 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rigid:TaD7+PXZGhycxqdyo/FXHIE3g50 false - - - - psi-mi:"MI:0421"(identification by antibody) psi-mi:"MI:0421"(identification by antibody) uniprotkb:Q6ZNJ1 uniprotkb:Q08AM6 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749949|imex:IM-26276-39 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 - - - figure legend:Figure 3B|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2018/01/30 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 rigid:cRrxZqHsQ0h4obRcwH8gNY/0yd0 false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2333 - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q6ZNJ1 uniprotkb:Q96N67 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749949|imex:IM-26276-39 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Figure 3B|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2018/01/30 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rigid:cRrxZqHsQ0h4obRcwH8gNY/0yd0 false flag tag:c-c|calmodulin binding protein tag:c-c|sufficient binding region:1908-2333 - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q6ZNJ1 uniprotkb:Q08AM6 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749960|imex:IM-26276-27 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 - - - figure legend:Figure 3B|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 rigid:mX/xiv08bQIt34IkJaG8nvkX7ic false calmodulin binding protein tag:c-c|sufficient binding region:1908-2754|flag tag:c-c - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q6ZNJ1 uniprotkb:Q96N67 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749960|imex:IM-26276-27 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Figure 3B|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rigid:mX/xiv08bQIt34IkJaG8nvkX7ic false calmodulin binding protein tag:c-c|sufficient binding region:1908-2754|flag tag:c-c - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q6ZNJ1 uniprotkb:O15027 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-357515|intact:EBI-1384174|uniprotkb:A1YCA4|uniprotkb:Q5SXP0|uniprotkb:Q5SXP1|uniprotkb:Q8N347|uniprotkb:Q96HP1|uniprotkb:J3KNL6|uniprotkb:Q4G0D7|intact:EBI-28968206|ensembl:ENSP00000325827|intact:EBI-10967582|intact:EBI-21024388 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:sc16a_human(display_long)|uniprotkb:KIAA0310(gene name synonym)|uniprotkb:SEC16(gene name synonym)|uniprotkb:SEC16L(gene name synonym)|uniprotkb:SEC16 homolog A(gene name synonym)|uniprotkb:SEC16A(gene name)|psi-mi:SEC16A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749960|imex:IM-26276-27 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:XP_011517562.1|refseq:XP_005266191.1|refseq:XP_011517548.1|refseq:XP_011517549.1|refseq:XP_011517550.1|refseq:XP_011517557.1|refseq:XP_011517559.1|refseq:XP_011517561.1|go:"GO:0070973"(protein localization to endoplasmic reticulum exit site)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR024298|interpro:IPR024340|interpro:IPR024880|mint:O15027|reactome:R-HSA-204005|ensembl:ENSG00000148396(gene)|ensembl:ENST00000313050(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0007029"(endoplasmic reticulum organization)|go:"GO:0007030"(Golgi organization)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0021762"(substantia nigra development)|go:"GO:0031090"(organelle membrane)|go:"GO:0032527"(protein exit from endoplasmic reticulum)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0043000"(Golgi to plasma membrane CFTR protein transport)|go:"GO:0048208"(COPII vesicle coating)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050821"(protein stabilization)|go:"GO:0070863"(positive regulation of protein exit from endoplasmic reticulum)|go:"GO:0070971"(endoplasmic reticulum exit site)|ensembl:ENSP00000325827|refseq:NP_055681.1|refseq:XP_011517554.1|refseq:NP_001263347.1|dip:DIP-27588N - - - figure legend:Figure 3B|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:yB65QJbL+WBjtWO5UXAx2DCRbwI9606 rigid:mX/xiv08bQIt34IkJaG8nvkX7ic false calmodulin binding protein tag:c-c|sufficient binding region:1908-2754|flag tag:c-c - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q6ZNJ1 uniprotkb:O15027 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 intact:EBI-357515|intact:EBI-1384174|uniprotkb:A1YCA4|uniprotkb:Q5SXP0|uniprotkb:Q5SXP1|uniprotkb:Q8N347|uniprotkb:Q96HP1|uniprotkb:J3KNL6|uniprotkb:Q4G0D7|intact:EBI-28968206|ensembl:ENSP00000325827|intact:EBI-10967582|intact:EBI-21024388 psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:sc16a_human(display_long)|uniprotkb:KIAA0310(gene name synonym)|uniprotkb:SEC16(gene name synonym)|uniprotkb:SEC16L(gene name synonym)|uniprotkb:SEC16 homolog A(gene name synonym)|uniprotkb:SEC16A(gene name)|psi-mi:SEC16A(display_short) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749972|imex:IM-26276-29 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 refseq:XP_011517562.1|refseq:XP_005266191.1|refseq:XP_011517548.1|refseq:XP_011517549.1|refseq:XP_011517550.1|refseq:XP_011517557.1|refseq:XP_011517559.1|refseq:XP_011517561.1|go:"GO:0070973"(protein localization to endoplasmic reticulum exit site)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR024298|interpro:IPR024340|interpro:IPR024880|mint:O15027|reactome:R-HSA-204005|ensembl:ENSG00000148396(gene)|ensembl:ENST00000313050(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006914"(autophagy)|go:"GO:0007029"(endoplasmic reticulum organization)|go:"GO:0007030"(Golgi organization)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0021762"(substantia nigra development)|go:"GO:0031090"(organelle membrane)|go:"GO:0032527"(protein exit from endoplasmic reticulum)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0043000"(Golgi to plasma membrane CFTR protein transport)|go:"GO:0048208"(COPII vesicle coating)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050821"(protein stabilization)|go:"GO:0070863"(positive regulation of protein exit from endoplasmic reticulum)|go:"GO:0070971"(endoplasmic reticulum exit site)|ensembl:ENSP00000325827|refseq:NP_055681.1|refseq:XP_011517554.1|refseq:NP_001263347.1|dip:DIP-27588N - - - figure legend:Figure 3B|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2019/01/23 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:yB65QJbL+WBjtWO5UXAx2DCRbwI9606 rigid:DR3+b7hShvxMEoTGq9BQ2jeKhJw false calmodulin binding protein tag:c-c|flag tag:c-c|necessary binding region:2334-2754 - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0113"(western blot) uniprotkb:Q08AM6 uniprotkb:Q6ZNJ1 intact:EBI-2107455|uniprotkb:Q13174|uniprotkb:Q6IA12|uniprotkb:Q7L4Y1|uniprotkb:Q9BW96|uniprotkb:Q9H6V6|uniprotkb:B3KPJ5|uniprotkb:B3KSM8|ensembl:ENSP00000261776 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 psi-mi:vac14_human(display_long)|uniprotkb:Tax1-binding protein 2(gene name synonym)|uniprotkb:VAC14(gene name)|psi-mi:VAC14(display_short)|uniprotkb:TAX1BP2(gene name synonym)|uniprotkb:TRX(gene name synonym) psi-mi:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-16749999|imex:IM-26276-31 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_060522.3|ensembl:ENSG00000103043(gene)|ensembl:ENST00000261776(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000306"(extrinsic component of vacuolar membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006661"(phosphatidylinositol biosynthetic process)|go:"GO:0007165"(signal transduction)|go:"GO:0010008"(endosome membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0070772"(PAS complex)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR021841|interpro:IPR026825|mint:Q08AM6|rcsb pdb:7K1Y|reactome:R-HSA-1660514|reactome:R-HSA-1660516|reactome:R-HSA-1660517 refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 - - - figure legend:Figure 3E|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2018/01/30 rogid:S9syIZ/DKHNbOM0Nw9oZP5F+AvA9606 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rigid:TaD7+PXZGhycxqdyo/FXHIE3g50 false - mutation decreasing interaction strength:2080-2080|calmodulin binding protein tag:c-c|sufficient binding region:1908-2754|flag tag:c-c|mutation decreasing interaction strength:2100-2100|mutation with no effect:2172-2172|mutation increasing interaction strength:2269-2269|mutation decreasing interaction strength:2290-2290,2294-2294 - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0705"(anti tag western blot) uniprotkb:Q6ZNJ1 uniprotkb:Q96N67 intact:EBI-2862306|uniprotkb:Q6UX91|uniprotkb:Q8NAC9|uniprotkb:Q6P994|uniprotkb:O60288|ensembl:ENSP00000415034 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:nbel2_human(display_long)|uniprotkb:NBEAL2(gene name)|psi-mi:NBEAL2(display_short)|uniprotkb:KIAA0540(gene name synonym)|uniprotkb:UNQ253/PRO290(orf name) 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) Mayer et al. (2017) pubmed:29187380|imex:IM-26276 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-16750011|imex:IM-26276-33 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011531835.1|refseq:NP_055990.1|ensembl:ENSG00000160796(gene)|ensembl:ENST00000450053(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0008104"(protein localization)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030220"(platelet formation)|go:"GO:0070821"(tertiary granule membrane)|go:"GO:0101003"(ficolin-1-rich granule membrane)|interpro:IPR000409(Beige/BEACH)|interpro:IPR001680(WD40 repeat)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR023362|interpro:IPR026916|interpro:IPR031570|interpro:IPR036322|interpro:IPR036372|reactome:R-HSA-6798695 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 - - - figure legend:Figure 3F|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2018/01/16 2018/01/30 rogid:H5iNI+TNWHLPeyFllmtH7p2s/uE9606 rogid:PHjIS0j8JJ6Il3knhzjCzMNkxKk9606 rigid:MpnrFV2HxnENrom9Igq/RJWcjd4 false sufficient binding region:1908-2754|flag tag:c-c|calmodulin binding protein tag:c-c|mutation with no effect:2080-2080|mutation disrupting interaction strength:2100-2100|mutation disrupting interaction strength:2172-2172|mutation with no effect:2269-2269|mutation decreasing interaction strength:2290-2290,2294-2294 - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0113"(western blot)