{ "uniprot_canonical_ac": "A3KFM7-1", "ptm_annotation": [], "sequence": { "header": "sp|A3KFM7-1|CHD6_MOUSE Isoform 1 of Chromodomain-helicase-DNA-binding protein 6 OS=Mus musculus OX=10090 GN=Chd6 PE=1 SV=1 CANONICAL=A3KFM7-1", "length": 2711, "sequence": "MKMKIQKKEKQLSKLRALNHSPMSDASVNFDYKSPSPFDCSPDQGENIEEAANHCLPHKNLYTTEEEADTLFSRKLTSHNGMEDSGGRGTGVKKKRKKKEPGEQEGTKGSKDREPKPKRKREPKEPKEPRRAKEPKRAKEPKETKQKDGVKKPRKHREASGTKEGKEKRSCTDYGSRTKSKKASREQGPTPVERKKKGKRKNETTVESLELDHSLPNPSLQSPEEPSESADSQKRRSGRQVKRRKYNEDLDFKVVDDDGETIAVLGAGRTSALSASTLAWQAEEPPEDDANIIEKILASKTVQEVHPGEPPFDLELFYVKYRNFSYLHCKWATMEELEKDPRIAQKIKRFRNKQAQMKHIFTEPDEDLFNPDYIEIDRILEVAHTKDAETGEEVTHYLVKWCSLPYEESTWELEEDVDPAKVKEFESLQILPEVKHVERPASDAWQKLETSREYRNSNRLREYQLEGMNWLLFNWYNRKNCILADEMGLGKTIQSIAFLSEIFVRGIHGPFLIIAPLSTITNWEREFRTWTEMNAIVYHGSQISRQMIQQYEMVYRDAQGNPLSGVFKFHVVITTFEMILADCPELKKIHWSCVIIDEAHRLKNRNCKLLEGLKLMALEHKVLLTGTPLQNSVEELFSLLNFLEPSQFPSETAFLEEFGDLKTEEQVKKLQSILKPMMLRRLKDDVEKNLAPKQETIIEVELTNIQKKYYRAILEKNFSFLTKGANQHNMPNLINTMMELRKCCNHPYLINGAEEKILEDFRKAHSSEASDFQLQAMIQAAGKLVLIDKLLPKLIAGGHKVLIFSQMVRCLDILEDYLIQRRYTYERIDGRVRGNLRQAAIDRFCKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKAVKVYRLITRNSYEREMFDKASLKLGLDKAILQDINRKGSTNGVQQLSKMEVEDLLRKGAYGALMDEEDEGSKFCEEDIDQILQRRTHTITIQSEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKIAELDTEANNEKESLVIDRPRVRKQTKHYNSFEEDELMEFSELDSDSDERPTRSRRLSDRARRYLRAECFRVEKNLLIFGWGRWKDILTHGRFKWPLNEKDMEMICRALLVYCVKHYKGDEKIKSFIWELITPSKDGQVQTLQNHSGLSAPVPRGRKGKKTKNQLLLPELKNADWLATCNPEVVLHDDGYKKHLKQHCNKVLLRVRMLYYLKAEILGEAADKAFEGTPARELDVLLPDIDYVEIPVDWWDAEADKSLLIGVFKHGYERYNAMRADPALCFLEKVGMPDEKSLSAEQGVTDGTSDIPERGNIDKEDSAEDKLDGLQKQTASPSDGSDGIFGEKKDDSQAAQDGSDPDKSPWPVSSALTARLRRLVTIYQRCNRKELCRPEILGPGNQGYWVQEEVFRRTSEMDLINKEAQKRWTRREQADFYRTVSSFGVVYDQEKKAFDWTQFRIISRLDKKSDESLEHYFYSFVAMCRNVCRLPAWKDDGPPDASIYVEPITEERAAKTLYRIELLRKVREQVLMCPQLHERLQLCRPSLYLPVWWECGKHDRDLLIGTAKHGLNRTDYYIMNDPQLSFLDAYRNYAQHKRTDTQAPGSLCCLYQSNSKLYESLTYTPVSRTSESLESEPENLMRMESRDDHLCLPEGGLPDITCENFVSKVQEVISLDHDENLLPESLENMIYGKTGLSQEPHSFQEAPTTNTQSRKNTITISASRNESCQPPGIEAEITSASSLMSSLEAGVAKMNIKNGKHLLVSISKEGEPCCSETGRRPETIGHREAKCLVSPTLDTGHESGFVDLCSLSVYDPKRNFSSDQQLIDLLENKSLESKLILNQSDEEEEENEDETLAIVASATEKPEVLDFPKPTVNIPRGKNLSFHQDEAKKGRLEVVSKTAGPQRVFPPPANQCHCKHIERWAHGLGSEDSEVEKPKAYQPDLYRSKANNSTVEGETAVIPTEPFKLKHELLKEPWKESSEGGKSFSMYAPEGSEPKPEDMDFENKDDYEKDGTCLSQDYPGKYSEEESKSSASGIAGDLGEEAQEVRAPTIAQLLQEKTLYSFSEWPKDRVIINRLDNICHVVLKGKWPCSHQYEPSGALPTPVLSSSAGSRSSLSEPEATEHGFSNGAALAAQIQKESFLAPVFTKDEQKHRRPYEFEVERDAKARSLEEYSATHGRPPIVLNGWHGESAIDLSCSSEGSPGATSPFPVSASTPKIGAISSLQGALGMDLSGILQAGLIHPVTGQIVNGSLRRDDAAMRRRRGRRKHIEGGMDLIFLKEQTLQAGILEVHEDAGQTTLSTTHPEVPGATSSAPEPTAAASSQAEKAVPSKSLLDWLRQQADYSLDVPGFGTSFSDKPKQRRPRCKEPGKLDISSLGGEERVPAVPKEPGLRGFLPESKFNHTLAEPVLRDAGPRRRGRRPRNELLKAPAIVADSPSGMGPLFMNGLIAGMDLVGLQNVRNIPGIPLTGLVGFPAGFATMPTGEEVKNTLSMLPMMLPGMAAVPQMFGVGGLLNTPMATTCTTTASASLASTKSGTSATEKSTEDKLSGHDVNTDALVDDKPGPSPFSDQSEPTITTSSPVAFNPFLIPGVSPGLIYPSMFLSPGMGMALPAMQQARHSEMVGLETQKRKKKKTKGDSPTQEPASVCEKEPGSDQNCTESSATVSPEREHVAQAREEGLKDSNEDTN" }, "uniprot_id": "", "enzyme_annotation": [ { "ec": "3.6.4.12", "activity": "" }, { "ec": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." } ], "glycation": [], "keywords": [ "enzyme" ], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" } ], "name": "DNA binding", "id": "GO:0003677" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" } ], "name": "ATP binding", "id": "GO:0005524" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" } ], "name": "DNA helicase activity", "id": "GO:0003678" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008094", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" } ], "name": "DNA-dependent ATPase activity", "id": "GO:0008094" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" } ], "name": "transcription cofactor binding", "id": "GO:0001221" } ], "total": 5, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" } ], "name": "nucleoplasm", "id": "GO:0005654" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" } ], "name": "chromatin organization", "id": "GO:0006325" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036091", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" } ], "name": "positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress", "id": "GO:0036091" } ], "total": 2, "name": "Biological Process" } ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17027977", "type": "PubMed", "id": "17027977" } ], "title": "CHD6 is a DNA-dependent ATPase and localizes at nuclear sites of mRNA synthesis.", "journal": "FEBS Lett.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775544.2", "id": "NP_775544.2", "database": "RefSeq" } ], "authors": "Nieto A., Lutz T., Stoger R.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20111866", "type": "PubMed", "id": "20111866" } ], "title": "Deletion of the Chd6 exon 12 affects motor coordination.", "journal": "Mamm. Genome", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775544.2", "id": "NP_775544.2", "database": "RefSeq" } ], "authors": "Chakrabarti L., Nieto A., Lutz T., Stoger R., Fields J., Rhodes C.H., Eng J., Fiering S., Lathrop M.J., Liggitt H.D., Warner S.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23408615", "type": "PubMed", "id": "23408615" } ], "title": "CHD6, a cellular repressor of influenza virus replication, is degraded in human alveolar epithelial cells and mice lungs during infection.", "journal": "Journal of virology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775544.2", "id": "NP_775544.2", "database": "RefSeq" } ], "authors": "Alfonso R, Rodriguez A, Rodriguez P, Lutz T, Nieto A", "date": "2013" } ], "uniprot_ac": "A3KFM7", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A3KFM7", "type": "synonym", "resource": "RefSeq", "name": "5430439G14Rik; 6330406J24Rik; CHD-6" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A3KFM7", "type": "synonym", "resource": "RefSeq", "name": "Chd6" }, { "url": "https://www.uniprot.org/uniprot/A3KFM7", "type": "recommended", "resource": "UniProtKB", "name": "Chd6" }, { "url": "https://www.uniprot.org/uniprot/A3KFM7", "type": "synonym", "resource": "UniProtKB", "name": "Kiaa1335" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7#A3KFM6-1", "isoform_ac": "A3KFM6-1", "locus": { "end_pos": 161029863, "strand": "+", "start_pos": 161052578, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000130265", "id": "ENSMUST00000130265", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000117075", "id": "ENSMUSP00000117075", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A3KFM6-1|CHD6_MOUSE Computationally mapped isoform of Chromodomain-helicase-DNA-binding protein 6 OS=Mus musculus OX=10090 GN=Chd6 PE=1 SV=1 CANONICAL=A3KFM7-1", "length": 217, "sequence": "REPKEPKEPRRAKEPKRAKEPKETKQKDGVKKPRKHREASGTKEGKEKRSCTDYGSRTKSKKASREQGPTPVERKKKGKRKNETTVESLELDHSLPNPSLQSPEEPSESADSQKRRSGRQVKRRKYNEDLDFKVVDDDGETIAVLGAGRTSALSASTLAWQAEEPPEDDANIIEKILASKTVQEVHPGEPPFDLELFYVKYRNLYVCLICCMYLNFI" } }, { "url": "https://www.uniprot.org/uniprot/A3KFM7#A3KFM7-1", "isoform_ac": "A3KFM7-1", "locus": { "end_pos": 160949303, "strand": "+", "start_pos": 161059951, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000039782", "id": "ENSMUST00000039782", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000042291", "id": "ENSMUSP00000042291", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A3KFM7-1|CHD6_MOUSE Isoform 1 of Chromodomain-helicase-DNA-binding protein 6 OS=Mus musculus OX=10090 GN=Chd6 PE=1 SV=1 CANONICAL=A3KFM7-1", "length": 2711, "sequence": "MKMKIQKKEKQLSKLRALNHSPMSDASVNFDYKSPSPFDCSPDQGENIEEAANHCLPHKNLYTTEEEADTLFSRKLTSHNGMEDSGGRGTGVKKKRKKKEPGEQEGTKGSKDREPKPKRKREPKEPKEPRRAKEPKRAKEPKETKQKDGVKKPRKHREASGTKEGKEKRSCTDYGSRTKSKKASREQGPTPVERKKKGKRKNETTVESLELDHSLPNPSLQSPEEPSESADSQKRRSGRQVKRRKYNEDLDFKVVDDDGETIAVLGAGRTSALSASTLAWQAEEPPEDDANIIEKILASKTVQEVHPGEPPFDLELFYVKYRNFSYLHCKWATMEELEKDPRIAQKIKRFRNKQAQMKHIFTEPDEDLFNPDYIEIDRILEVAHTKDAETGEEVTHYLVKWCSLPYEESTWELEEDVDPAKVKEFESLQILPEVKHVERPASDAWQKLETSREYRNSNRLREYQLEGMNWLLFNWYNRKNCILADEMGLGKTIQSIAFLSEIFVRGIHGPFLIIAPLSTITNWEREFRTWTEMNAIVYHGSQISRQMIQQYEMVYRDAQGNPLSGVFKFHVVITTFEMILADCPELKKIHWSCVIIDEAHRLKNRNCKLLEGLKLMALEHKVLLTGTPLQNSVEELFSLLNFLEPSQFPSETAFLEEFGDLKTEEQVKKLQSILKPMMLRRLKDDVEKNLAPKQETIIEVELTNIQKKYYRAILEKNFSFLTKGANQHNMPNLINTMMELRKCCNHPYLINGAEEKILEDFRKAHSSEASDFQLQAMIQAAGKLVLIDKLLPKLIAGGHKVLIFSQMVRCLDILEDYLIQRRYTYERIDGRVRGNLRQAAIDRFCKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKAVKVYRLITRNSYEREMFDKASLKLGLDKAILQDINRKGSTNGVQQLSKMEVEDLLRKGAYGALMDEEDEGSKFCEEDIDQILQRRTHTITIQSEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKIAELDTEANNEKESLVIDRPRVRKQTKHYNSFEEDELMEFSELDSDSDERPTRSRRLSDRARRYLRAECFRVEKNLLIFGWGRWKDILTHGRFKWPLNEKDMEMICRALLVYCVKHYKGDEKIKSFIWELITPSKDGQVQTLQNHSGLSAPVPRGRKGKKTKNQLLLPELKNADWLATCNPEVVLHDDGYKKHLKQHCNKVLLRVRMLYYLKAEILGEAADKAFEGTPARELDVLLPDIDYVEIPVDWWDAEADKSLLIGVFKHGYERYNAMRADPALCFLEKVGMPDEKSLSAEQGVTDGTSDIPERGNIDKEDSAEDKLDGLQKQTASPSDGSDGIFGEKKDDSQAAQDGSDPDKSPWPVSSALTARLRRLVTIYQRCNRKELCRPEILGPGNQGYWVQEEVFRRTSEMDLINKEAQKRWTRREQADFYRTVSSFGVVYDQEKKAFDWTQFRIISRLDKKSDESLEHYFYSFVAMCRNVCRLPAWKDDGPPDASIYVEPITEERAAKTLYRIELLRKVREQVLMCPQLHERLQLCRPSLYLPVWWECGKHDRDLLIGTAKHGLNRTDYYIMNDPQLSFLDAYRNYAQHKRTDTQAPGSLCCLYQSNSKLYESLTYTPVSRTSESLESEPENLMRMESRDDHLCLPEGGLPDITCENFVSKVQEVISLDHDENLLPESLENMIYGKTGLSQEPHSFQEAPTTNTQSRKNTITISASRNESCQPPGIEAEITSASSLMSSLEAGVAKMNIKNGKHLLVSISKEGEPCCSETGRRPETIGHREAKCLVSPTLDTGHESGFVDLCSLSVYDPKRNFSSDQQLIDLLENKSLESKLILNQSDEEEEENEDETLAIVASATEKPEVLDFPKPTVNIPRGKNLSFHQDEAKKGRLEVVSKTAGPQRVFPPPANQCHCKHIERWAHGLGSEDSEVEKPKAYQPDLYRSKANNSTVEGETAVIPTEPFKLKHELLKEPWKESSEGGKSFSMYAPEGSEPKPEDMDFENKDDYEKDGTCLSQDYPGKYSEEESKSSASGIAGDLGEEAQEVRAPTIAQLLQEKTLYSFSEWPKDRVIINRLDNICHVVLKGKWPCSHQYEPSGALPTPVLSSSAGSRSSLSEPEATEHGFSNGAALAAQIQKESFLAPVFTKDEQKHRRPYEFEVERDAKARSLEEYSATHGRPPIVLNGWHGESAIDLSCSSEGSPGATSPFPVSASTPKIGAISSLQGALGMDLSGILQAGLIHPVTGQIVNGSLRRDDAAMRRRRGRRKHIEGGMDLIFLKEQTLQAGILEVHEDAGQTTLSTTHPEVPGATSSAPEPTAAASSQAEKAVPSKSLLDWLRQQADYSLDVPGFGTSFSDKPKQRRPRCKEPGKLDISSLGGEERVPAVPKEPGLRGFLPESKFNHTLAEPVLRDAGPRRRGRRPRNELLKAPAIVADSPSGMGPLFMNGLIAGMDLVGLQNVRNIPGIPLTGLVGFPAGFATMPTGEEVKNTLSMLPMMLPGMAAVPQMFGVGGLLNTPMATTCTTTASASLASTKSGTSATEKSTEDKLSGHDVNTDALVDDKPGPSPFSDQSEPTITTSSPVAFNPFLIPGVSPGLIYPSMFLSPGMGMALPAMQQARHSEMVGLETQKRKKKKTKGDSPTQEPASVCEKEPGSDQNCTESSATVSPEREHVAQAREEGLKDSNEDTN" } }, { "url": "https://www.uniprot.org/uniprot/A3KFM7#A3KFM7-2", "isoform_ac": "A3KFM7-2", "locus": {}, "sequence": { "header": "sp|A3KFM7-2|CHD6_MOUSE Isoform 2 of Chromodomain-helicase-DNA-binding protein 6 OS=Mus musculus OX=10090 GN=Chd6 PE=1 SV=1 CANONICAL=A3KFM7-1", "length": 2710, "sequence": "MKMKIQKKEKQLSKLRALNHSPMSDASVNFDYKSPSPFDCSPDQGENIEEAANHCLPHKNLYTTEEEADTLFSRKLTSHNGMEDSGGRGTGVKKKRKKKEPGEQEGTKGSKDREPKPKRKREPKEPKEPRRAKEPKRAKEPKETKQKDGVKKPRKHREASGTKEGKEKRSCTDYGSRTKSKKAREQGPTPVERKKKGKRKNETTVESLELDHSLPNPSLQSPEEPSESADSQKRRSGRQVKRRKYNEDLDFKVVDDDGETIAVLGAGRTSALSASTLAWQAEEPPEDDANIIEKILASKTVQEVHPGEPPFDLELFYVKYRNFSYLHCKWATMEELEKDPRIAQKIKRFRNKQAQMKHIFTEPDEDLFNPDYIEIDRILEVAHTKDAETGEEVTHYLVKWCSLPYEESTWELEEDVDPAKVKEFESLQILPEVKHVERPASDAWQKLETSREYRNSNRLREYQLEGMNWLLFNWYNRKNCILADEMGLGKTIQSIAFLSEIFVRGIHGPFLIIAPLSTITNWEREFRTWTEMNAIVYHGSQISRQMIQQYEMVYRDAQGNPLSGVFKFHVVITTFEMILADCPELKKIHWSCVIIDEAHRLKNRNCKLLEGLKLMALEHKVLLTGTPLQNSVEELFSLLNFLEPSQFPSETAFLEEFGDLKTEEQVKKLQSILKPMMLRRLKDDVEKNLAPKQETIIEVELTNIQKKYYRAILEKNFSFLTKGANQHNMPNLINTMMELRKCCNHPYLINGAEEKILEDFRKAHSSEASDFQLQAMIQAAGKLVLIDKLLPKLIAGGHKVLIFSQMVRCLDILEDYLIQRRYTYERIDGRVRGNLRQAAIDRFCKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKAVKVYRLITRNSYEREMFDKASLKLGLDKAILQDINRKGSTNGVQQLSKMEVEDLLRKGAYGALMDEEDEGSKFCEEDIDQILQRRTHTITIQSEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKIAELDTEANNEKESLVIDRPRVRKQTKHYNSFEEDELMEFSELDSDSDERPTRSRRLSDRARRYLRAECFRVEKNLLIFGWGRWKDILTHGRFKWPLNEKDMEMICRALLVYCVKHYKGDEKIKSFIWELITPSKDGQVQTLQNHSGLSAPVPRGRKGKKTKNQLLLPELKNADWLATCNPEVVLHDDGYKKHLKQHCNKVLLRVRMLYYLKAEILGEAADKAFEGTPARELDVLLPDIDYVEIPVDWWDAEADKSLLIGVFKHGYERYNAMRADPALCFLEKVGMPDEKSLSAEQGVTDGTSDIPERGNIDKEDSAEDKLDGLQKQTASPSDGSDGIFGEKKDDSQAAQDGSDPDKSPWPVSSALTARLRRLVTIYQRCNRKELCRPEILGPGNQGYWVQEEVFRRTSEMDLINKEAQKRWTRREQADFYRTVSSFGVVYDQEKKAFDWTQFRIISRLDKKSDESLEHYFYSFVAMCRNVCRLPAWKDDGPPDASIYVEPITEERAAKTLYRIELLRKVREQVLMCPQLHERLQLCRPSLYLPVWWECGKHDRDLLIGTAKHGLNRTDYYIMNDPQLSFLDAYRNYAQHKRTDTQAPGSLCCLYQSNSKLYESLTYTPVSRTSESLESEPENLMRMESRDDHLCLPEGGLPDITCENFVSKVQEVISLDHDENLLPESLENMIYGKTGLSQEPHSFQEAPTTNTQSRKNTITISASRNESCQPPGIEAEITSASSLMSSLEAGVAKMNIKNGKHLLVSISKEGEPCCSETGRRPETIGHREAKCLVSPTLDTGHESGFVDLCSLSVYDPKRNFSSDQQLIDLLENKSLESKLILNQSDEEEEENEDETLAIVASATEKPEVLDFPKPTVNIPRGKNLSFHQDEAKKGRLEVVSKTAGPQRVFPPPANQCHCKHIERWAHGLGSEDSEVEKPKAYQPDLYRSKANNSTVEGETAVIPTEPFKLKHELLKEPWKESSEGGKSFSMYAPEGSEPKPEDMDFENKDDYEKDGTCLSQDYPGKYSEEESKSSASGIAGDLGEEAQEVRAPTIAQLLQEKTLYSFSEWPKDRVIINRLDNICHVVLKGKWPCSHQYEPSGALPTPVLSSSAGSRSSLSEPEATEHGFSNGAALAAQIQKESFLAPVFTKDEQKHRRPYEFEVERDAKARSLEEYSATHGRPPIVLNGWHGESAIDLSCSSEGSPGATSPFPVSASTPKIGAISSLQGALGMDLSGILQAGLIHPVTGQIVNGSLRRDDAAMRRRRGRRKHIEGGMDLIFLKEQTLQAGILEVHEDAGQTTLSTTHPEVPGATSSAPEPTAAASSQAEKAVPSKSLLDWLRQQADYSLDVPGFGTSFSDKPKQRRPRCKEPGKLDISSLGGEERVPAVPKEPGLRGFLPESKFNHTLAEPVLRDAGPRRRGRRPRNELLKAPAIVADSPSGMGPLFMNGLIAGMDLVGLQNVRNIPGIPLTGLVGFPAGFATMPTGEEVKNTLSMLPMMLPGMAAVPQMFGVGGLLNTPMATTCTTTASASLASTKSGTSATEKSTEDKLSGHDVNTDALVDDKPGPSPFSDQSEPTITTSSPVAFNPFLIPGVSPGLIYPSMFLSPGMGMALPAMQQARHSEMVGLETQKRKKKKTKGDSPTQEPASVCEKEPGSDQNCTESSATVSPEREHVAQAREEGLKDSNEDTN" } }, { "url": "https://www.uniprot.org/uniprot/A3KFM7#A3KFM8-1", "isoform_ac": "A3KFM8-1", "locus": { "end_pos": 160983186, "strand": "+", "start_pos": 161059951, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000134178", "id": "ENSMUST00000134178", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000123240", "id": "ENSMUSP00000123240", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A3KFM8-1|A3KFM8_MOUSE Computationally mapped isoform of DNA helicase OS=Mus musculus OX=10090 GN=Chd6 PE=1 SV=8 CANONICAL=A3KFM7-1", "length": 1183, "sequence": "MKMKIQKKEKQLSKLRALNHSPMSDASVNFDYKSPSPFDCSPDQGENIEEAANHCLPHKNLYTTEEEADTLFSRKLTSHNGMEDSGGRGTGVKKKRKKKEPGEQEGTKGSKDREPKPKRKREPKEPKEPRRAKEPKRAKEPKETKQKDGVKKPRKHREASGTKEGKEKRSCTDYGSRTKSKKAREQGPTPVERKKKGKRKNETTVESLELDHSLPNPSLQSPEEPSESADSQKRRSGRQVKRRKYNEDLDFKVVDDDGETIAVLGAGRTSALSASTLAWQAEEPPEDDANIIEKILASKTVQEVHPGEPPFDLELFYVKYRNFSYLHCKWATMEELEKDPRIAQKIKRFRNKQAQMKHIFTEPDEDLFNPDYIEIDRILEVAHTKDAETGEEVTHYLVKWCSLPYEESTWELEEDVDPAKVKEFESLQILPEVKHVERPASDAWQKLETSREYRNSNRLREYQLEGMNWLLFNWYNRKNCILADEMGLGKTIQSIAFLSEIFVRGIHGPFLIIAPLSTITNWEREFRTWTEMNAIVYHGSQISRQMIQQYEMVYRDAQGNPLSGVFKFHVVITTFEMILADCPELKKIHWSCVIIDEAHRLKNRNCKLLEGLKLMALEHKVLLTGTPLQNSVEELFSLLNFLEPSQFPSETAFLEEFGDLKTEEQVKKLQSILKPMMLRRLKDDVEKNLAPKQETIIEVELTNIQKKYYRAILEKNFSFLTKGANQHNMPNLINTMMELRKCCNHPYLINGAEEKILEDFRKAHSSEASDFQLQAMIQAAGKLVLIDKLLPKLIAGGHKVLIFSQMVRCLDILEDYLIQRRYTYERIDGRVRGNLRQAAIDRFCKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKAVKVYRLITRNSYEREMFDKASLKLGLDKAILQDINRKGSTNGVQQLSKMEVEDLLRKGAYGALMDEEDEGSKFCEEDIDQILQRRTHTITIQSEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKIAELDTEANNEKESLVIDRPRVRKQTKHYNSFEEDELMEFSELDSDSDERPTRSRRLSDRARRYLRAECFRVEKNLLIFGWGRWKDILTHGRFKWPLNEKDMEMICRALLVYCVKHYKGDEKIKSFIWELITPSKDGQVQTLQNHSGLSAPVPRGRK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:71389", "resource": "KEGG Pathway", "id": "mmu:71389", "name": "" } ], "reaction_participants": [], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775544.2", "annotation": "CHD6 colocalizes with both hypo- and hyper-phosphorlylated forms of RNA polymerase II. CHD6 was found to be present at sites of mRNA synthesis and to be part of a high molecular weight complex.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775544.2", "id": "NP_775544.2", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A3KFM7#function", "annotation": "DNA-dependent ATPase that plays a role in chromatin remodeling. Regulates transcription by disrupting nucleosomes in a largely non-sliding manner which strongly increases the accessibility of chromatin. Activates transcription of specific genes in response to oxidative stress through interaction with NFE2L2.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7#function", "id": "A3KFM7", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775544.2", "annotation": "The genomic location, expression pattern, and ataxic phenotype of Chd6 Exon 12 -/- mice indicate that mutations within CHD6 may be responsible for ataxias.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775544.2", "id": "NP_775544.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZA12-1", "protein_name": "DNA helicase", "sequence": { "length": 2698, "sequence": "MKMKIQKKEKQLSKLRALNHSPMSDASVNFDYKSPSPFDCSPDQGENIEEAANHCLPQKDFYTTEEEADTLFSRKLMSHNGMEDNGGRGTGVKKKRKKKEPGEQEGTKASKDREPKPKRKREPKEPKEPRRAKEPKRAKEPKEAKQKDGVKKPRKPREASGTKEGKEKRSCTDCGPRTKPKKASKDQGPTPVERKKKGKRKNETTVESLELDQSLPNPSLQSPEEPSESADSQKRRSGRQVKRRKYNEDLDFKVVDDDGETIAVLGAGRTSALSASTLAWQAEEPPEDDANIIEKILASKTVQEVHPGEPPFDLELFYVKYRNFSYLHCKWATMEELEKDPRIAQKIKRFRNKQAQMKHIFTEPDEDLFNPDYIEIDRILEVAHTKDAETGEEVTHYLVKWCSLPYEESTWELEEDVDPAKVKEFESLQILPEVKPVERPASDAWQKLETSREYKNSNRLREYQLEGMNWLLFNWYNRKNCILADEMGLGKTIQSIAFLSEIFVRGIHGPFLIIAPLSTITNWEREFRTWTEMNAIVYHGSQISRQMIQQYEMVYRDAQGNPLSGVFKFHVVITTFEMILADCPELKKIHWSCVVIDEAHRLKNRNCKLLEGLKLMALEHKVLLTGTPLQNSVEELFSLLNFLEPSQFPSETAFLEEFGDLKTEEQVKKLQSILKPMMLRRLKDDVEKNLAPKQETIIEVELTNIQKKYYRAILEKNFSFLTKGANQHNMPNLINTMMELRKCCNHPYLINGAEEKILEDFRKAHSSEASDFQLQAMIQAAGKLVLIDKLLPKLIAGGHKVLIFSQMVRCLDILEDYLIQRRYTYERIDGRVRGNLRQAAIDRFCKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKAVKVYRLITRNSYEREMFDKASLKLGLDKAILQDINRKGSTNGVQQLSKMEVEDLLRKGAYGALMDEEDEGSKFCEEDIDQILQRRTHTITIQSEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKIAELDTEANNEKESLVIDRPRVRKQTKHYNSFEEDELMEFSELDSDSDERPTRSRRLSDKARRYLRAECFRVEKNLLTFGWGRWKDILTHGRFKWPLNEKDMEVICRALLVYCVKHYKGDEKIKSFIWELITPSKDGQVQTLQNHSGLSAPVPRGRKGKKTKNQLLLPELKTADWLATCNPEVVLHDDGYKKHLKQHCNKVLLRVRMLYYLKAEILGEAADKAFEGTPARELDVLLPDIDYVEIPVDWWDAEADKSLLIGVFKHGYERYNAMRADPALCFLEKVGMPDEKSLSAEQGVTDGTSDIPERGNIDKEDSAEDKVDGLQKQTASPSDGSDGIFGEKKDDSQAVSSALTARLRRLVTIYQRCNRKELCRPEILGPGNQGYWVQEEVFRRTSDMDLINKEAQKRWTRREQADFYRTVSSFGVVYDQEKEAFDWTQFRAISRLDKKSDENLEHYFHSFVAMCRNVCRLPTWKDDGPPDASIYVEPITEERAAKTLYRIELLRKVREQVLTCPQLHERLQLCRPSLYLPVWWECGKHDRDLLIGTAKHGLNRTDYYIMNDPQLSFLDAYRNYAQHKRTDTQAPGSLCCLYQGNSKLYESLTYTPMSRTSESLESEPENLVKMDSRDDHLCLPEAGLPDITCENFVSKVQEVISLDHDESLLPESLENMMYGKTGLSQEPRSFQEAPSTNMQSRKKTVTVSASRDESCQLPGIEAEITSASSLMSSLEAGVAKMNIKNGKHLLVSISEEGEPCCSETGRSPESRGRLEARCLASPTLDTGHESGFVDLCSLSVYDSKRNFSSDQQLIDLLENKSLENKLILNQSDEEEEENEKETLAIVASTTEKPAVLDFTQPTASIPRGKNLSFHQDEAKKGRLEVGSKTPGPQRAFPPSANQCHCKHIERWAHGLGSEESEGEKPKAYEPDPYRSKANNTTVEGEPAIIPTEPFKLKHELLKEPWKESSEGGKSFSMYVPEGSEPKSEEMDFENKDDYEKDGACHSQDYPGKYSEEESKSSASGIAGDLGEEAQEVRAPTIAQLLQEKTLYSFSEWPKDRVIINRLDNICHVVLKGKWPCSHQYEPSGALPTPVLSSSAGSRSSLSEPEATEHSFSNGAALAAQIQKESFLAPVFTKDEQKHRRPYEFEVERDAKARSLEEYSASHGRPPIVLNGWHGESAIDLSCSSEGSPGATSPFPVSASTPKIGAISSLQGALGMDLSGILQAGLIHPVTGQIVNGSLRRDDAAMRRRRGRRKHIEGGMDLIFLKEQTLQAGILEVHEDAGQTTLNTTHPEGPGAASSASEPTAAASSQAEKAVPSKSLLDWLRQQADYSLDVPGFGASFSDKPKQRRPRCKEPGKLDIGSLGGEERVSAVPKEPGLRGFLPESKFNHTLAEPVLRDAGPRRRGRRPRNELLKAPAIVADSPSGMGPLFMNGLIAGMDLVGLQNVRNIPGIPLTGLVGFPAGFATMPTGEDVKNTLSMLPMMLPGMATVPQMFGVGGLLNTPMATTCTTTASASLASTKSGASATEKTTEDELSGRDVKADSLVEDKPGPSPFSDQSEPTITTSSPVAFNPFLIPGVSPGLIYPSMFLSPGMGMALPAMQQGRHSEMAGLETQKRKKKKTKGDNPTPEPASVCEREPGSDQNCTESSVTVSPEREHVAQAREEGLKDSNDDTN" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/32772", "id": "32772", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Chd6", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8TD26-1", "protein_name": "DNA helicase", "sequence": { "length": 2715, "sequence": "MKMKIQKKEKQLSNLKVLNHSPMSDASVNFDYKSPSPFDCSTDQEEKIEDVASHCLPQKDLYTAEEEAATLFPRKMTSHNGMEDSGGGGTGVKKKRKKKEPGDQEGAAKGSKDREPKPKRKREPKEPKEPRKAKEPKKAKEHKEPKQKDGAKKARKPREASGTKEAKEKRSCTDSAARTKSRKASKEQGPTPVEKKKKGKRKSETTVESLELDQGLTNPSLRSPEESTESTDSQKRRSGRQVKRRKYNEDLDFKVVDDDGETIAVLGAGRTSALSASTLAWQAEEPPEDDANIIEKILASKTVQEVHPGEPPFDLELFYVKYRNFSYLHCKWATMEELEKDPRIAQKIKRFRNKQAQMKHIFTEPDEDLFNPDYVEVDRILEVAHTKDAETGEEVTHYLVKWCSLPYEESTWELEEDVDPAKVKEFESLQVLPEIKHVERPASDSWQKLEKSREYKNSNQLREYQLEGMNWLLFNWYNRKNCILADEMGLGKTIQSITFLSEIFLRGIHGPFLIIAPLSTITNWEREFRTWTEMNAIVYHGSQISRQMIQQYEMVYRDAQGNPLSGVFKFHVVITTFEMILADCPELKKIHWSCVIIDEAHRLKNRNCKLLEGLKLMALEHKVLLTGTPLQNSVEELFSLLNFLEPSQFPSETAFLEEFGDLKTEEQVKKLQSILKPMMLRRLKDDVEKNLAPKQETIIEVELTNIQKKYYRAILEKNFSFLTKGANQHNMPNLINTMMELRKCCNHPYLINGAEEKILEDFRKTHSPDAPDFQLQAMIQAAGKLVLIDKLLPKLIAGGHKVLIFSQMVRCLDILEDYLIQRRYTYERIDGRVRGNLRQAAIDRFCKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKAVKVYRLITRNSYEREMFDKASLKLGLDKAVLQDINRKGGTNGVQQLSKMEVEDLLRKGAYGALMDEEDEGSKFCEEDIDQILQRRTHTITIQSEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKIAELDTEAKNEKESLVIDRPRVRKQTKHYNSFEEDELMEFSELDSDSDERPTRSRRLNDKARRYLRAECFRVEKNLLIFGWGRWKDILTHGRFKWHLNEKDMEMICRALLVYCVKHYKGDEKIKSFIWELITPTKDGQAQTLQNHSGLSAPVPRGRKGKKTKNQLLIPELKDADWLATCNPEVVLHDDGYKKHLKQHCNKVLLRVRMLYYLKAEILGEAAEKAFEGSPARELDVPLPDIDYMEIPVDWWDAEADKSLLIGVFKHGYERYNAMRADPALCFLEKVGMPDEKSLSAEQGVTDGTSDIPERGNTDKEDNAEDKVDGLQKQTESSSDGGDGVFSEKKDDSRAAQDGSDPDKSPWPVSSALTARLRRLVTVYQRCNRKELCRPEILGPGNQGYWVQEEMFRRTSEMDLINKEAQKRWTRREQADFYRTVSSFGVVYDQEKKTFDWTQFRIISRLDKKSDESLEQYFYSFVAMCRNVCRLPTWKDGGPPDTTIYVEPITEERAARTLYRIELLRKVREQVLKCPQLHERLQLCRPSLYLPVWWECGKHDRDLLIGTAKHGLNRTDCYIMNDPQLSFLDAYRNYAQHKRSGTQAPGNLCCLYQTNSKLYESLTYSQMSRTSESLENEPENLVRVESRDDHLSLPDVTCENFISKVQDVISINHDESLLPESLESMMYGKKVLSQEPSSFQESPSTNTESRKDVITISISKDGNCQSGGPEAEIASGPTFMGSLEAGGVAQANIKNGKHLLMSISKEGELCCSEAGQRPENIGQLEAKCLASPSLNPGNESGFVDMCSLSVCDSKRNLSSDQQLIDLLENKSLESKLILSQNHSDEEEEEEENEEENLAMAVGMGERPEVLHLTEPTTNISREKNQGFQDETKKGSLEVANQTPGLQRAFPAPAACQCHCKHMERWMHGLENDEFEIEKPKAYIPDLFKSKTNTIAMEGEPTAIPSQPFKVKHELLKEPWKESAEGQNVFPTYPLEGSELKSEDMDFENKDDYDRDGNCHSQDYPGKYSEEESKSSTSGITGDIGDELQEARAPTIAQLLQEKTLYSFSEWPKDRVIINRLDNICHVVLKGKWPSSQQYEPSGTLPTPVLTSSAGSRTSLSEPEAAEHSFSNGAALAAQIHKESFLAPVFTKDEQKHRRPYEFEVERDAKARGLEQFSATHGHTPIILNGWHGESAMDLSCSSEGSPGATSPFPVSASTPKIGAISSLQGALGMDLSGILQAGLIHPVTGQIVNGSLRRDDAATRRRRGRRKHVEGGMDLIFLKEQTLQAGILEVHEDPGQATLSTTHPEGPGPATSAPEPATAASSQAEKSIPSKSLLDWLRQQADYSLEVPGFGANFSDKPKQRRPRCKEPGKLDVSSLSGEERVPAIPKEPGLRGFLPENKFNHTLAEPILRDTGPRRRGRRPRSELLKAPSIVADSPSGMGPLFMNGLIAGMDLVGLQNMRNMPGIPLTGLVGFPAGFATMPTGEEVKSTLSMLPMMLPGMAAVPQMFGVGGLLSPPMATTCTSTAPASLSSTTKSGTAVTEKTAEDKPSSHDVKTDTLAEDKPGPGPFSDQSEPAITTSSPVAFNPFLIPGVSPGLIYPSMFLSPGMGMALPAMQQARHSEIVGLESQKRKKKKTKGDNPNSHPEPAPSCEREPSGDENCAEPSAPLPAEREHGAQAGEGALKDSNNDTN" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/32772", "id": "32772", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A3KFM7/", "id": "A3KFM7", "database": "OMA" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "CHD6", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775544.2", "ac": "NP_775544.2", "name": "chromodomain-helicase-DNA-binding protein 6", "summary": "This gene encodes a member of the chromodomain/helicase/DNA-binding domain family of chromatin remodeling enzymes. This protein has been found to be specifically involved in transcription initiation and elongation. Homozygous knockout mice exhibit impaired motor coordination. A pseudogene has been identified on chromosome 8. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]." }, "reaction_enzymes": [], "site_annotation": [ { "end_pos": 1012, "annotation": "n_glycosylation_sequon", "start_pos": 1010 }, { "end_pos": 1173, "annotation": "n_glycosylation_sequon", "start_pos": 1171 }, { "end_pos": 1595, "annotation": "n_glycosylation_sequon", "start_pos": 1593 }, { "end_pos": 1748, "annotation": "n_glycosylation_sequon", "start_pos": 1746 }, { "end_pos": 1842, "annotation": "n_glycosylation_sequon", "start_pos": 1840 }, { "end_pos": 1855, "annotation": "n_glycosylation_sequon", "start_pos": 1853 }, { "end_pos": 1865, "annotation": "n_glycosylation_sequon", "start_pos": 1863 }, { "end_pos": 1906, "annotation": "n_glycosylation_sequon", "start_pos": 1904 }, { "end_pos": 1974, "annotation": "n_glycosylation_sequon", "start_pos": 1972 }, { "end_pos": 1975, "annotation": "n_glycosylation_sequon", "start_pos": 1973 }, { "end_pos": 21, "annotation": "n_glycosylation_sequon", "start_pos": 19 }, { "end_pos": 204, "annotation": "n_glycosylation_sequon", "start_pos": 202 }, { "end_pos": 2275, "annotation": "n_glycosylation_sequon", "start_pos": 2273 }, { "end_pos": 2427, "annotation": "n_glycosylation_sequon", "start_pos": 2425 }, { "end_pos": 2682, "annotation": "n_glycosylation_sequon", "start_pos": 2680 }, { "end_pos": 325, "annotation": "n_glycosylation_sequon", "start_pos": 323 }, { "end_pos": 719, "annotation": "n_glycosylation_sequon", "start_pos": 717 }, { "end_pos": 868, "annotation": "n_glycosylation_sequon", "start_pos": 866 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000057133", "id": "ENSMUSG00000057133", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/71389", "id": "71389", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A3KFM7*", "id": "A3KFM7", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000330", "id": "IPR000330", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000953", "id": "IPR000953", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001650", "id": "IPR001650", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR002464", "id": "IPR002464", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR006576", "id": "IPR006576", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR014001", "id": "IPR014001", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR016197", "id": "IPR016197", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR023780", "id": "IPR023780", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "id": "IPR027417", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR038718", "id": "IPR038718", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:71389", "id": "mmu:71389", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:1918639", "id": "1918639", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/PSGDENC/", "id": "PSGDENC", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=7181at2759", "id": "7181at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00176", "id": "PF00176", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF00271", "id": "PF00271", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF00385", "id": "PF00385", "database": "Pfam" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A3KFM7", "id": "PR_A3KFM7", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775544", "id": "NP_775544", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775544.2", "id": "NP_775544.2", "database": "RefSeq" }, { "url": 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"resource": "MONDO", "description": "", "name": "Hall-Hittner syndrome", "id": "MONDO:0008965" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008965", "resource": "MONDO", "description": "", "name": "CHARGE association", "id": "MONDO:0008965" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008965", "resource": "MONDO", "description": "", "name": "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association", "id": "MONDO:0008965" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008965", "resource": "MONDO", "description": "", "name": "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies", "id": "MONDO:0008965" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008965", "resource": "MONDO", "description": "", "name": "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies", "id": 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