IntAct European Bioinformatics Institute IntAct intact http://www.ebi.ac.uk/ http://www.ebi.ac.uk/intact/query/${ac} EBI-[0-9]+|IA:[0-9]+ INTerAction database (IntAct) provides an open source database and toolkit for the storage, presentation and analysis of molecular interactions. http://www.ebi.ac.uk/intact European Bioinformatics Institute; Wellcome Trust Genome Campus; Hinxton, Cambridge; CB10 1SD; United Kingdom http://www.ebi.ac.uk/intact/ Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. Molecular biology of the cell 2002 imex curation Vesa J., Chin MH., Oelgeschläger K., Isosomppi J., DellAngelica EC., Jalanko A., Peltonen L. Rare diseases - Interactions investigated in the context of Rare genetic disease more info on SWE:- c.669insC Frameshift after H223(H174) and 253X (407 aa protein). According to Holmberg pHd thesis, 2004. Added clinvar:VCV000056543.1 and dbsnp. lpeltonen@mednet.ucla.edu 04-05-20: Contacted by IntAct-Help. Only protein-protein interactions imex curation chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 anti bait coip anti bait coimmunoprecipitation anti bait coip western blot western blot Immuno blot Immuno blot Vesa J., Chin MH., Oelgeschläger K., Isosomppi J., DellAngelica EC., Jalanko A., Peltonen L. Rare diseases - Interactions investigated in the context of Rare genetic disease more info on SWE:- c.669insC Frameshift after H223(H174) and 253X (407 aa protein). According to Holmberg pHd thesis, 2004. Added clinvar:VCV000056543.1 and dbsnp. The authors have followed Genbank AAC27614.1 CLN5 protein sequence (pmid 9662406). The amino acid numbering for the mutation was were remapped to Uniprot accession O75503 - SWE E253X = p.Trp175Leufs*30; Fin M Y343X = p.Tyr392*; EUR D279N = p.Asp230Asn; Fin m W75X = p.Trp26* SWE mutation was found to be a frameshift mutation (insertion of C at 1961 - Isosomppi et al., 2002 PMID:11971870), translating to p.Trp175Leufs*30 CLN5 and CLN3 constructs were found to be of human origin from given references PMID:11971870 and 9384607 respectively lpeltonen@mednet.ucla.edu Accepted 2020-MAR-06 AT 08:29 GMT AT 08:29 GMT by MGT Molecular biology of the cell 2002 Only protein-protein interactions imex curation imex curation Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. Molecular biology of the cell 2002 imex curation Vesa J., Chin MH., Oelgeschläger K., Isosomppi J., DellAngelica EC., Jalanko A., Peltonen L. Rare diseases - Interactions investigated in the context of Rare genetic disease more info on SWE:- c.669insC Frameshift after H223(H174) and 253X (407 aa protein). According to Holmberg pHd thesis, 2004. Added clinvar:VCV000056543.1 and dbsnp. lpeltonen@mednet.ucla.edu 04-05-20: Contacted by IntAct-Help. Only protein-protein interactions imex curation in vitro In vitro pull down pull down autoradiography autoradiography Vesa J., Chin MH., Oelgeschläger K., Isosomppi J., DellAngelica EC., Jalanko A., Peltonen L. Rare diseases - Interactions investigated in the context of Rare genetic disease more info on SWE:- c.669insC Frameshift after H223(H174) and 253X (407 aa protein). According to Holmberg pHd thesis, 2004. Added clinvar:VCV000056543.1 and dbsnp. Origin of CLN2 construct used for in-vitro translation for pull down assay is not available from article; author is not accessible via mail lpeltonen@mednet.ucla.edu Accepted 2020-MAR-06 AT 08:29 GMT AT 08:29 GMT by MGT Molecular biology of the cell 2002 Only protein-protein interactions imex curation imex curation cln2_chlae protein protein chlae Chlorocebus aethiops Cercopithecus aethiops Grivet Green monkey cln5_human Ceroid-lipofuscinosis neuronal protein 5 CLN5 protein protein human Homo sapiens Human MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFNKLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQFYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL 07E49D4913685190 cln3_human Battenin CLN3 BTS Batten disease protein Protein CLN3 protein protein human Homo sapiens Human MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS BE25E973CEEC4FD5 cln2_chlae-cln5-1 1 3 unspecified role unspecified role bait bait physiological level physiological level endogenous level endogenous endogenous endogenous level 4 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed O75503:p.Asp230Asn mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain D N Tue Jun 30 18:01:45 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asp230Asn' p.Tyr343* p.Tyr343* required to bind necessary binding region required to bind certain certain sequence position certain certain certain sequence position certain O75503:p.Trp175_Leu358delinsLeuGluGlyLysTrpAspIleSerSerSerSerAsnTyrIleArgLysHisValGlnProAsnGlyLysValGlyGluThrGlyGln NP_006484.2:p.Trp175Leufs*30 mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain WKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFNKLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQFYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL LEGKWDISSSSNYIRKHVQPNGKVGETGQ physical association physical association Fig. 5a p.Tyr392* (rs386833969) and p.Glu204* are other clinical variants resulting in disruption of interaction - are not annotated here as p.Trp26* serves as the longest required to bind region. cln5-cln3-1 1 5 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell 4 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell O75503:p.Asp230Asn mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain D N Tue Jun 30 20:17:38 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asp230Asn' p.Trp343* p.Trp343* sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain O75503:p.Trp175_Leu358delinsLeuGluGlyLysTrpAspIleSerSerSerSerAsnTyrIleArgLysHisValGlnProAsnGlyLysValGlyGluThrGlyGln NP_006484.2:p.Trp175Leufs*30 mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain WKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFNKLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQFYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL LEGKWDISSSSNYIRKHVQPNGKVGETGQ physical association physical association Fig. 5b p.Tyr392* (rs386833969) and p.Glu204* are other clinical variants not showing any change in the strength of interaction - are not annotated here as p.Trp26* serves as the shortest sufficient to bind region. cln3-cln5-1 2 5 unspecified role unspecified role prey prey cell lysate cell lysate in vitro translated in vitro translated protein in vitro translated region radiolabelled radiolabel radiolabeled radiolabelled undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined rabit-reticulocyte Oryctolagus cuniculus reticulocyte reticulocyte Reticulocytes 4 unspecified role unspecified role bait bait purified purified region gst tag glutathione s tranferase tag glutathione S-tranferase tag glutathione S-tranferase tag gst tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined ecoli Escherichia coli (strain K12) physical association physical association Fig. 5c