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/ Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome. Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome. Frontiers in neurology 2018 imex curation Gatz C., Hathazi D., Münchberg U., Buchkremer S., Labisch T., Munro B., Horvath R., Töpf A., Weis J., Roos A. Rare diseases - Interactions investigated in the context of Rare genetic disease andreas.roos@uk-essen.de,andreas.roos@isas.de 29-Mar-2021: Contacted by IntAct-Help. Only protein-protein interactions imex curation human-293 Homo sapiens transformed primary embryonal kidney cells Human 293 Transformed human primary embryonal kidney cells. The Cell type named 293 is synonymous with HEK-293. tap tandem affinity purification TAP TAP tap fingerprinting peptide massfingerprinting fingerprinting Gatz C., Hathazi D., Münchberg U., Buchkremer S., Labisch T., Munro B., Horvath R., Töpf A., Weis J., Roos A. Rare diseases - Interactions investigated in the context of Rare genetic disease andreas.roos@uk-essen.de,andreas.roos@isas.de Accepted 2021-FEB-24 AT 11:22 GMT AT 11:22 GMT by ORCHARD Frontiers in neurology 2018 Only protein-protein interactions imex curation imex curation Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome. Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome. Frontiers in neurology 2018 imex curation Gatz C., Hathazi D., Münchberg U., Buchkremer S., Labisch T., Munro B., Horvath R., Töpf A., Weis J., Roos A. Rare diseases - Interactions investigated in the context of Rare genetic disease andreas.roos@uk-essen.de,andreas.roos@isas.de 29-Mar-2021: Contacted by IntAct-Help. Only protein-protein interactions imex curation human-293 Homo sapiens transformed primary embryonal kidney cells Human 293 Transformed human primary embryonal kidney cells. The Cell type named 293 is synonymous with HEK-293. anti bait coip anti bait coimmunoprecipitation anti bait coip anti tag western anti tag western blot anti tag western Gatz C., Hathazi D., Münchberg U., Buchkremer S., Labisch T., Munro B., Horvath R., Töpf A., Weis J., Roos A. Rare diseases - Interactions investigated in the context of Rare genetic disease HEK-293 cells have got the T-REx System andreas.roos@uk-essen.de,andreas.roos@isas.de Accepted 2021-FEB-24 AT 11:22 GMT AT 11:22 GMT by ORCHARD Frontiers in neurology 2018 Only protein-protein interactions imex curation imex curation poc1a_human POC1 centriolar protein homolog A WDR51A WD repeat-containing protein 51A POC1A Pix2 Proteome of centriole protein 1A protein protein human Homo sapiens Human MAAPCAEDPSLERHFKGHRDAVTCVDFSINTKQLASGSMDSCLMVWHMKPQSRAYRFTGHKDAVTCVNFSPSGHLLASGSRDKTVRIWVPNVKGESTVFRAHTATVRSVHFCSDGQSFVTASDDKTVKVWATHRQKFLFSLSQHINWVRCAKFSPDGRLIVSASDDKTVKLWDKSSRECVHSYCEHGGFVTYVDFHPSGTCIAAAGMDNTVKVWDVRTHRLLQHYQLHSAAVNGLSFHPSGNYLITASSDSTLKILDLMEGRLLYTLHGHQGPATTVAFSRTGEYFASGGSDEQVMVWKSNFDIVDHGEVTKVPRPPATLASSMGNLPEVDFPVPPGRGRSVESVQSQPQEPVSVPQTLTSTLEHIVGQLDVLTQTVSILEQRLTLTEDKLKQCLENQQLIMQRATP A5BF28F024DCCC98 djb11_human DnaJ homolog subfamily B member 11 HDJ9 DnaJ protein homolog 9 ER-associated Hsp40 co-chaperone ER-associated DNAJ HEDJ Human DnaJ protein 9 PWP1-interacting protein 4 APOBEC1-binding protein 2 PSEC0121 DNAJB11 EDJ ERJ3 UNQ537/PRO1080 Endoplasmic reticulum DNA J domain-containing protein 3 protein protein human Homo sapiens Human MAPQNLSTFCLLLLYLIGAVIAGRDFYKILGVPRSASIKDIKKAYRKLALQLHPDRNPDDPQAQEKFQDLGAAYEVLSDSEKRKQYDTYGEEGLKDGHQSSHGDIFSHFFGDFGFMFGGTPRQQDRNIPRGSDIIVDLEVTLEEVYAGNFVEVVRNKPVARQAPGKRKCNCRQEMRTTQLGPGRFQMTQEVVCDECPNVKLVNEERTLEVEIEPGVRDGMEYPFIGEGEPHVDGEPGDLRFRIKVVKHPIFERRGDDLYTNVTISLVESLVGFEMDITHLDGHKVHISRDKITRPGAKLWKKGEGLPNFDNNNIKGSLIITFDVDFPKEQLTEEAREGIKQLLKQGSVQKVYNGLQGY DIP protein Q9UBS4 original sequence version: 66 580CC4D66A06B734 cpns1_human Calpain small subunit 1 Calcium-dependent protease small subunit 1 Calcium-dependent protease small subunit Calpain regulatory subunit Calcium-activated neutral proteinase small subunit CAPNS1 CAPN4 CAPNS protein protein human Homo sapiens Human MFLVNSFLKGGGGGGGGGGGLGGGLGNVLGGLISGAGGGGGGGGGGGGGGGGGGGGTAMRILGGVISAISEAAAQYNPEPPPPRTHYSNIEANESEEVRQFRRLFAQLAGDDMEVSATELMNILNKVVTRHPDLKTDGFGIDTCRSMVAVMDSDTTGKLGFEEFKYLWNNIKRWQAIYKQFDTDRSGTICSSELPGAFEAAGFHLNEHLYNMIIRRYSDESGNMDFDNFISCLVRLDAMFRAFKSLDKDGTGQIQVNIQEWLQLTMYS 17B87A8E47A90632 bip_human Endoplasmic reticulum chaperone BiP HSPA5 GRP78 Immunoglobulin heavy chain-binding protein 78 kDa glucose-regulated protein Binding-immunoglobulin protein Heat shock protein 70 family protein 5 Heat shock protein family A member 5 protein protein human Homo sapiens Human MKLSLVAAMLLLLSAARAEEEDKKEDVGTVVGIDLGTTYSCVGVFKNGRVEIIANDQGNRITPSYVAFTPEGERLIGDAAKNQLTSNPENTVFDAKRLIGRTWNDPSVQQDIKFLPFKVVEKKTKPYIQVDIGGGQTKTFAPEEISAMVLTKMKETAEAYLGKKVTHAVVTVPAYFNDAQRQATKDAGTIAGLNVMRIINEPTAAAIAYGLDKREGEKNILVFDLGGGTFDVSLLTIDNGVFEVVATNGDTHLGGEDFDQRVMEHFIKLYKKKTGKDVRKDNRAVQKLRREVEKAKRALSSQHQARIEIESFYEGEDFSETLTRAKFEELNMDLFRSTMKPVQKVLEDSDLKKSDIDEIVLVGGSTRIPKIQQLVKEFFNGKEPSRGINPDEAVAYGAAVQAGVLSGDQDTGDLVLLDVCPLTLGIETVGGVMTKLIPRNTVVPTKKSQIFSTASDNQPTVTIKVYEGERPLTKDNHLLGTFDLTGIPPAPRGVPQIEVTFEIDVNGILRVTAEDKGTGNKNKITITNDQNRLTPEEIERMVNDAEKFAEEDKKLKERIDTRNELESYAYSLKNQIGDKEKLGGKLSSEDKETMEKAVEEKIEWLESHQDADIEDFKAKKKELEEIVQPIISKLYGSAGPPPTGEEDTAEKDEL DIP protein P11021 original sequence version: 127 DIP protein P11021 original sequence version: 137 DIP protein P11021 original sequence version: 185 59B7D8D85BC32A00 sil1_human Nucleotide exchange factor SIL1 SIL1 BiP-associated protein UNQ545/PRO836 protein protein human Homo sapiens Human MAPQSLPSSRMAPLGMLLGLLMAACFTFCLSHQNLKEFALTNPEKSSTKETERKETKAEEELDAEVLEVFHPTHEWQALQPGQAVPAGSHVRLNLQTGEREAKLQYEDKFRNNLKGKRLDINTNTYTSQDLKSALAKFKEGAEMESSKEDKARQAEVKRLFRPIEELKKDFDELNVVIETDMQIMVRLINKFNSSSSSLEEKIAALFDLEYYVHQMDNAQDLLSFGGLQVVINGLNSTEPLVKEYAAFVLGAAFSSNPKVQVEAIEGGALQKLLVILATEQPLTAKKKVLFALCSLLRHFPYAQRQFLKLGGLQVLRTLVQEKGTEVLAVRVVTLLYDLVTEKMFAEEEAELTQEMSPEKLQQYRQVHLLPGLWEQGWCEITAHLLALPEHDAREKVLQTLGVLLTTCRDRYRQDPQLGRTLASLQAEYQVLASLELQDGEDEGYFQELLGSVNSLLKELR C4DD7E880A610880 grp75_human Stress-70 protein, mitochondrial HSPA9 GRP75 HSPA9B 75 kDa glucose-regulated protein Heat shock 70 kDa protein 9 Peptide-binding protein 74 Mortalin mt-HSP70 protein protein human Homo sapiens Human MISASRAAAARLVGAAASRGPTAARHQDSWNGLSHEAFRLVSRRDYASEAIKGAVVGIDLGTTNSCVAVMEGKQAKVLENAEGARTTPSVVAFTADGERLVGMPAKRQAVTNPNNTFYATKRLIGRRYDDPEVQKDIKNVPFKIVRASNGDAWVEAHGKLYSPSQIGAFVLMKMKETAENYLGHTAKNAVITVPAYFNDSQRQATKDAGQISGLNVLRVINEPTAAALAYGLDKSEDKVIAVYDLGGGTFDISILEIQKGVFEVKSTNGDTFLGGEDFDQALLRHIVKEFKRETGVDLTKDNMALQRVREAAEKAKCELSSSVQTDINLPYLTMDSSGPKHLNMKLTRAQFEGIVTDLIRRTIAPCQKAMQDAEVSKSDIGEVILVGGMTRMPKVQQTVQDLFGRAPSKAVNPDEAVAIGAAIQGGVLAGDVTDVLLLDVTPLSLGIETLGGVFTKLINRNTTIPTKKSQVFSTAADGQTQVEIKVCQGEREMAGDNKLLGQFTLIGIPPAPRGVPQIEVTFDIDANGIVHVSAKDKGTGREQQIVIQSSGGLSKDDIENMVKNAEKYAEEDRRKKERVEAVNMAEGIIHDTETKMEEFKDQLPADECNKLKEEISKMRELLARKDSETGENIRQAASSLQQASLKLFEMAYKKMASEREGSGSSGTGEQKEDQKEEKQ DIP protein P38646 original sequence version: 188 90969A8D06757753 sil1-sil1-1 2 7 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminus CBP tag tap tagged calmodulin binding peptide plus protein a tag CBP-ProtA tagged CBP-ProtA tagged tap tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Arg92Trp 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 R W 7 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell c-terminus ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Arg92Trp 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 R W physical association physical association 2c sil1-sil1-2 2 7 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminus CBP tag tap tagged calmodulin binding peptide plus protein a tag CBP-ProtA tagged CBP-ProtA tagged tap tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Lys132Gln 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 K Q 7 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell c-terminus ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Lys132Gln 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 K Q physical association physical association 2d sil1-sil1-3 2 7 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell c-terminus ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range 7 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminus tap tagged calmodulin binding peptide plus protein a tag CBP-ProtA tagged CBP-ProtA tagged tap tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range physical association physical association 2b sil1-sil1-4 2 7 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminus CBP tag tap tagged calmodulin binding peptide plus protein a tag CBP-ProtA tagged CBP-ProtA tagged tap tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Val231_Ile232del mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain VI . 7 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell c-terminus ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Val231_Ile232del mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain VI . physical association physical association 2e sil1-sil1-5 2 7 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminus CBP tag tap tagged calmodulin binding peptide plus protein a tag CBP-ProtA tagged CBP-ProtA tagged tap tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Gly312Arg 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 G R 7 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell c-terminus ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Gly312Arg 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 G R physical association physical association 2f sil1-sil1-6 2 7 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminus CBP tag tap tagged calmodulin binding peptide plus protein a tag CBP-ProtA tagged CBP-ProtA tagged tap tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Leu457Pro 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 L P 7 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell c-terminus ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Leu457Pro 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 L P physical association physical association 2g sil1-capns1-1 1 8 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 6 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 7 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminus CBP tag tap tagged calmodulin binding peptide plus protein a tag CBP-ProtA tagged CBP-ProtA tagged tap tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Arg92Trp mutation with complex effect mutation with complex effect certain certain sequence position certain certain certain sequence position certain R W Q9H173:p.Lys132Gln mutation with complex effect mutation with complex effect certain certain sequence position certain certain certain sequence position certain K Q Q9H173:p.Val231_Ile232del mutation with complex effect mutation with complex effect certain certain sequence position certain certain certain sequence position certain VI . Q9H173:p.Gly312Arg mutation with complex effect mutation with complex effect certain certain sequence position certain certain certain sequence position certain G R Q9H173:p.Leu457Pro mutation with complex effect mutation with complex effect certain certain sequence position certain certain certain sequence position certain 3 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level 5 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level association association 5a sil1-capns1-2 1 3 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 5 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 8 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 6 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 7 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminus CBP tag tap tagged calmodulin binding peptide plus protein a tag CBP-ProtA tagged CBP-ProtA tagged tap tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Arg92Trp mutation mutation certain certain sequence position certain certain certain sequence position certain R W association association 5a sil1-capns1-3 1 3 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 5 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 8 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 6 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 7 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminus CBP tag tap tagged calmodulin binding peptide plus protein a tag CBP-ProtA tagged CBP-ProtA tagged tap tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Lys132Gln mutation mutation certain certain sequence position certain certain certain sequence position certain K Q association association 5a sil1-capns1-4 1 5 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 8 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 6 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 7 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminus CBP tag tap tagged calmodulin binding peptide plus protein a tag CBP-ProtA tagged CBP-ProtA tagged tap tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Val231_Ile232del mutation mutation certain certain sequence position certain certain certain sequence position certain VI . association association 5a sil1-capns1-5 1 4 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level 8 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 6 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 7 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminus CBP tag tap tagged calmodulin binding peptide plus protein a tag CBP-ProtA tagged CBP-ProtA tagged tap tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Gly312Arg mutation mutation certain certain sequence position certain certain certain sequence position certain G R 5 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level association association 5a sil1-capns1-6 1 4 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level 8 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 6 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level 5 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level 7 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell c-terminus CBP tag tap tagged calmodulin binding peptide plus protein a tag CBP-ProtA tagged CBP-ProtA tagged tap tagged c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9H173:p.Leu457Pro mutation mutation certain certain sequence position certain certain certain sequence position certain L P association association 5a