{ "uniprot_canonical_ac": "A2AJK6-1", "ptm_annotation": [], "sequence": { "header": "sp|A2AJK6-1|CHD7_MOUSE Isoform 1 of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 2986, "sequence": "MADPGMMSLFGEDGSLFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYSQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGGGGQMGVYPGIQNERHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQHGQPQQRMGQFSQGQEGLSQGSPFIATSGPGHLSHMPQQSPSMAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRNQTVPSPTVNNSGQYSRYPYSNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLVHQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGMPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQPRSFMGMSSAPRELTGHMRPNGCPGVGLADPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQVSAQNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIAAGDSSKGFGKDDFPGGVENQELRRNSLDVSQEEKKKKKRPKVKKDPKESKEPKEKKEPKTPKAPKIPKEPKEKKAKTVTPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPAPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRLVKKQKESGEEVEVEEFYVKYKNFSYLHCQWASVEDLEKDKRIQQKIKRFKSKQGQSKFLSEIEDDLFNPDYVEVDRIMDFARSTDDRGEPVIHYLVKWCSLPYEDSTWELKQDIDQTKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRAILVYCLNHYRGDENIKSFIWDLITPTADGQTRALLNHSGLSAPVPRGRKGKKVKAQSTQPVVHDAHWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVIGDQAEKILEGADSSEADVWIPEPFHAEVPTDWWDREADKSLLIGVFKHGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRAPFKDEIDEFANSPAEDKEESMEVHSSGKHSESNAELGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLGKYFSCFVAMCRRVCRMPAKPEDEPPDLASLIEPITEERASRTLYRIELLRKIREQVLHHPQLSDRLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHILNDPELSFLDAHKSFAQNRGASTVPPLNTLAMGFGQTPPVISSAHVHEEKAMEQAEGKAEECEHSPAKERSDGKEEEEEAGGAKDGKQECEVEASSVKGELKGVEGSADPGSKSVSEKGSEEDEEEKLEDDDKSEESSQPEAGAVSRGKTFDEESNASLSTARDETRDGFYMEDGDASVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLVPGYPPSAVDSPLQKRSFAELSMVSQASISASEDITTSPQLSKDDALNLSVPRQRRRRRRKVEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLTSKFILPNVSTPVSDAFKSQMELLQAGLSRTPTRHMLNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTPLSAEDAEVTKAFEEDIETPPIRNIPSPGQLDPDTRIPVINLEDGTRLVGEDAPKNKDLVDWLKLHPTYTVDMPSYVPKNTDVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKSPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDGTSKAEEKGNDNEDENRDSEKSTDTVSAADSANGSVGAATAPAALPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGTSEEKAADKAEGGPCKDGETLEGSDAEENLDKTVESSILEDEVAQGEELDSLEGGDEIENTGNDE" }, "uniprot_id": "CHD7_MOUSE", "enzyme_annotation": [ { "ec": "3.6.4.12", "activity": "" }, { "ec": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." } ], "glycation": [], "keywords": [], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11919684", "type": [ "PubMed" ], "id": "11919684" } ], "title": "ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis.", "journal": "Mammalian genome : official journal of the International Mammalian Genome Society", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ], "authors": "Kiernan AE, Erven A, Voegeling S, Peters J, Nolan P, Hunter J, Bacon Y, Steel KP, Brown SD, Guenet JL", "date": "2002" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16400610", "type": [ "PubMed" ], "id": "16400610" } ], "title": "Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "authors": "Gibbs R.A., McPherson J.D., Lin A.E., Bacino C.A., Towbin J.A., Thaller C., Belmont J.W., Craigen W.J., Lalani S.R., Davenport S.L.H., Fernbach S.D., Glass N.L., Graham J.M., Harutyunyan K.G., Hefner M., Neish S.R., Peterson L.E., Safiullah A.M., White L.D.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20507341", "type": [ "PubMed" ], "id": "20507341" } ], "title": "Chromodomain proteins in development: lessons from CHARGE syndrome.", "journal": "Clinical genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ], "authors": "Layman WS, Hurd EA, Martin DM", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24129315", "type": [ "PubMed" ], "id": "24129315" } ], "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Mol. Cell. Proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "authors": "Beausoleil S.A., Wang Y., Zhou J., Comb M.J., Guo A., Lee K.A., Aguiar M., Bedford M.T., Gu H., Jia X., Kornhauser J., Mulhern D., Ren J., Silva J.C., Vemulapalli V., Yang V.", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29311329", "type": [ "PubMed" ], "id": "29311329" } ], "title": "Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ], "authors": "Martin D.M., Belanger C., Campeau P.M., Lalani S.R., Moccia A., Srivastava A., Bielas S., Silversides D.W., Bernas G., Berube-Simard F.A., Leduc E., Pilon N.", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29467333", "type": [ "PubMed" ], "id": "29467333" } ], "title": "CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development.", "journal": "JCI insight", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ], "authors": "Yao H, Hill SF, Skidmore JM, Sperry ED, Swiderski DL, Sanchez GJ, Bartels CF, Raphael Y, Scacheri PC, Iwase S, Martin DM", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30108144", "type": [ "PubMed" ], "id": "30108144" } ], "title": "Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ], "authors": "Marie C, Clavairoly A, Frah M, Hmidan H, Yan J, Zhao C, Van Steenwinckel J, Daveau R, Zalc B, Hassan B, Thomas JL, Gressens P, Ravassard P, Moszer I, Martin DM, Lu QR, Parras C", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/32883883", "type": [ "PubMed" ], "id": "32883883" } ], "title": "CHD7 and Runx1 interaction provides a braking mechanism for hematopoietic differentiation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ], "authors": "Hsu J, Huang HT, Lee CT, Choudhuri A, Wilson NK, Abraham BJ, Moignard V, Kucinski I, Yu S, Hyde RK, Tober J, Cai X, Li Y, Guo Y, Yang S, Superdock M, Trompouki E, Calero-Nieto FJ, Ghamari A, Jiang J, Gao P, Gao L, Nguyen V, Robertson AL, Durand EM, Kathrein KL, Aifantis I, Gerber SA, Tong W, Tan K, Cantor AB, Zhou Y, Liu PP, Young RA, Gottgens B, Speck NA, Zon LI", "date": "2020" } ], "uniprot_ac": "A2AJK6", "site_annotation": [ { "end_pos": 1217, "annotation": "n_glycosylation_sequon", "start_pos": 1215 }, { "end_pos": 1366, "annotation": "n_glycosylation_sequon", "start_pos": 1364 }, { "end_pos": 1439, "annotation": "n_glycosylation_sequon", "start_pos": 1437 }, { "end_pos": 1511, "annotation": "n_glycosylation_sequon", "start_pos": 1509 }, { "end_pos": 1673, "annotation": "n_glycosylation_sequon", "start_pos": 1671 }, { "end_pos": 1897, "annotation": "n_glycosylation_sequon", "start_pos": 1895 }, { "end_pos": 2264, "annotation": "n_glycosylation_sequon", "start_pos": 2262 }, { "end_pos": 2384, "annotation": "n_glycosylation_sequon", "start_pos": 2382 }, { "end_pos": 2448, "annotation": "n_glycosylation_sequon", "start_pos": 2446 }, { "end_pos": 2460, "annotation": "n_glycosylation_sequon", "start_pos": 2458 }, { "end_pos": 2490, "annotation": "n_glycosylation_sequon", "start_pos": 2488 }, { "end_pos": 2817, "annotation": "n_glycosylation_sequon", "start_pos": 2815 }, { "end_pos": 287, "annotation": "n_glycosylation_sequon", "start_pos": 285 }, { "end_pos": 2862, "annotation": "n_glycosylation_sequon", "start_pos": 2860 }, { "end_pos": 292, "annotation": "n_glycosylation_sequon", "start_pos": 290 }, { "end_pos": 301, "annotation": "n_glycosylation_sequon", "start_pos": 299 }, { "end_pos": 320, "annotation": "n_glycosylation_sequon", "start_pos": 318 }, { "end_pos": 332, "annotation": "n_glycosylation_sequon", "start_pos": 330 }, { "end_pos": 337, "annotation": "n_glycosylation_sequon", "start_pos": 335 }, { "end_pos": 64, "annotation": "n_glycosylation_sequon", "start_pos": 62 }, { "end_pos": 777, "annotation": "n_glycosylation_sequon", "start_pos": 775 }, { "end_pos": 824, "annotation": "n_glycosylation_sequon", "start_pos": 822 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6#A0A0R4J1U9-1", "isoform_ac": "A0A0R4J1U9-1", "locus": { "end_pos": 8751505, "strand": "-", "start_pos": 8785590, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000127476", "id": "ENSMUST00000127476", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000118711", "id": "ENSMUSP00000118711", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0R4J1U9-1|CHD7_MOUSE Computationally mapped isoform of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 631, "sequence": "MADPGMMSLFGEDGSLFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYSQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGGGGQMGVYPGIQNERHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQHGQPQQRMGQFSQGQEGLSQGSPFIATSGPGHLSHMPQQSPSMAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRNQTVPSPTVNNSGQYSRYPYSNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLVHQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGMPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQPRSFMGMSSAPRELTGHMRPNGCPGVGLADPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQVSAQNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIAAGDSSKGFGKDDFPGGVENQELRRNSLDVSQ" } }, { "url": "https://www.uniprot.org/uniprot/A2AJK6#A0A1Y7VIV0-1", "isoform_ac": "A0A1Y7VIV0-1", "locus": { "end_pos": 8855231, "strand": "-", "start_pos": 8858618, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000222546", "id": "ENSMUST00000222546", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000152166", "id": "ENSMUSP00000152166", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A1Y7VIV0-1|CHD7_MOUSE Computationally mapped isoform of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 194, "sequence": "XEEKAMEQAEGKAEECEHSPAKERSDGKEEEEEAGGAKDGKQECEVEASSVKGELKGVEGSADPGSKSVSEKGSEEDEEEKLEDDDKSEESSQPEGAVSRGKTFDEESNASLSTARDETRDGFYMEDGDASVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLVPGYPPSAVDSPL" } }, { "url": "https://www.uniprot.org/uniprot/A2AJK6#A2AJK6-1", "isoform_ac": "A2AJK6-1", "locus": { "end_pos": 8751505, "strand": "-", "start_pos": 8866652, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000039267", "id": "ENSMUST00000039267", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000043903", "id": "ENSMUSP00000043903", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2AJK6-1|CHD7_MOUSE Isoform 1 of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 2986, "sequence": "MADPGMMSLFGEDGSLFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYSQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGGGGQMGVYPGIQNERHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQHGQPQQRMGQFSQGQEGLSQGSPFIATSGPGHLSHMPQQSPSMAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRNQTVPSPTVNNSGQYSRYPYSNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLVHQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGMPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQPRSFMGMSSAPRELTGHMRPNGCPGVGLADPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQVSAQNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIAAGDSSKGFGKDDFPGGVENQELRRNSLDVSQEEKKKKKRPKVKKDPKESKEPKEKKEPKTPKAPKIPKEPKEKKAKTVTPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPAPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRLVKKQKESGEEVEVEEFYVKYKNFSYLHCQWASVEDLEKDKRIQQKIKRFKSKQGQSKFLSEIEDDLFNPDYVEVDRIMDFARSTDDRGEPVIHYLVKWCSLPYEDSTWELKQDIDQTKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRAILVYCLNHYRGDENIKSFIWDLITPTADGQTRALLNHSGLSAPVPRGRKGKKVKAQSTQPVVHDAHWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVIGDQAEKILEGADSSEADVWIPEPFHAEVPTDWWDREADKSLLIGVFKHGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRAPFKDEIDEFANSPAEDKEESMEVHSSGKHSESNAELGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLGKYFSCFVAMCRRVCRMPAKPEDEPPDLASLIEPITEERASRTLYRIELLRKIREQVLHHPQLSDRLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHILNDPELSFLDAHKSFAQNRGASTVPPLNTLAMGFGQTPPVISSAHVHEEKAMEQAEGKAEECEHSPAKERSDGKEEEEEAGGAKDGKQECEVEASSVKGELKGVEGSADPGSKSVSEKGSEEDEEEKLEDDDKSEESSQPEAGAVSRGKTFDEESNASLSTARDETRDGFYMEDGDASVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLVPGYPPSAVDSPLQKRSFAELSMVSQASISASEDITTSPQLSKDDALNLSVPRQRRRRRRKVEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLTSKFILPNVSTPVSDAFKSQMELLQAGLSRTPTRHMLNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTPLSAEDAEVTKAFEEDIETPPIRNIPSPGQLDPDTRIPVINLEDGTRLVGEDAPKNKDLVDWLKLHPTYTVDMPSYVPKNTDVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKSPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDGTSKAEEKGNDNEDENRDSEKSTDTVSAADSANGSVGAATAPAALPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGTSEEKAADKAEGGPCKDGETLEGSDAEENLDKTVESSILEDEVAQGEELDSLEGGDEIENTGNDE" } }, { "url": "https://www.uniprot.org/uniprot/A2AJK6#A2AJK6-2", "isoform_ac": "A2AJK6-2", "locus": {}, "sequence": { "header": "sp|A2AJK6-2|CHD7_MOUSE Isoform 2 of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 558, "sequence": "MADPGMMSLFGEDGSLFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYSQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGGGGQMGVYPGIQNERHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQHGQPQQRMGQFSQGQEGLSQGSPFIATSGPGHLSHMPQQSPSMAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRNQTVPSPTVNNSGQYSRYPYSNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLVHQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGMPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQPRSFMGMSSAPRELTGHMRPNGCPGVGLADPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQVRGADACPVA" } }, { "url": "https://www.uniprot.org/uniprot/A2AJK6#A2AJK6-3", "isoform_ac": "A2AJK6-3", "locus": {}, "sequence": { "header": "sp|A2AJK6-3|CHD7_MOUSE Isoform 3 of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 2960, "sequence": "MADPGMMSLFGEDGSLFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYSQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGGGGQMGVYPGIQNERHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQHGQPQQRMGQFSQGQEGLSQGSPFIATSGPGHLSHMPQQSPSMAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRNQTVPSPTVNNSGQYSRYPYSNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLVHQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGMPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQPRSFMGMSSAPRELTGHMRPNGCPGVGLADPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQVSAQNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIAAGDSSKGFGKDDFPGGVENQELRRNSLDVSQEEKKKKKRPKVKKDPKESKEPKEKKEPKTPKAPKIPKEPKEKKAKTVTPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPAPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRLVKKQKESGEEVEVEEFYVKYKNFSYLHCQWASVEDLEKDKRIQQKIKRFKSKQGQSKFLSEIEDDLFNPDYVEVDRIMDFARSTDDRGEPVIHYLVKWCSLPYEDSTWELKQDIDQTKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRAILVYCLNHYRGDENIKSFIWDLITPTADGQTRALLNHSGLSAPVPRGRKGKKVKAQSTQPVVHDAHWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVIGDQAEKILEGADSSEADVWIPEPFHAEVPTDWWDREADKSLLIGVFKHGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRAPFKDEIDEFANSPAEDKEESMEVHSSGKHSESNAELGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLGKYFSCFVAMCRRVCRMPAKPEDEPPDLASLIEPITEERASRTLYRIELLRKIREQVLHHPQLSDRLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHILNDPELSFLDAHKSFAQNRGASTVPPLNTLAMGFGQTPPVISSAHVHEEKAMEQAEGKAEECEHSPAKERSDGKEEEEEAGGAKDGKQECEVEASSVKGELKGVEGSADPGSKSVSEKGSEEDEEEKLEDDDKSEESSQPEAGAVSRGKTFDEESNASLSTARDETRDGFYMEDGDASVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLVPGYPPSAVDSPLQKRSFAELSMVSQASISASEDITTSPQLSKDDALNLSVPRQRRRRRRKVEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLTSKFILPNVSTPVSDAFKSQMELLQAGLSRTPTRHMLNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTPLSALDPDTRIPVINLEDGTRLVGEDAPKNKDLVDWLKLHPTYTVDMPSYVPKNTDVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKSPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDGTSKAEEKGNDNEDENRDSEKSTDTVSAADSANGSVGAATAPAALPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGTSEEKAADKAEGGPCKDGETLEGSDAEENLDKTVESSILEDEVAQGEELDSLEGGDEIENTGNDE" } }, { "url": "https://www.uniprot.org/uniprot/A2AJK6#A2AJK7-1", "isoform_ac": "A2AJK7-1", "locus": { "end_pos": 8751505, "strand": "-", "start_pos": 8751561, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000129655", "id": "ENSMUST00000129655", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000123241", "id": "ENSMUSP00000123241", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A2AJK7-1|CHD7_MOUSE Computationally mapped isoform of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 19, "sequence": "MADPGMMSLFGEDGSLFSE" } }, { "url": "https://www.uniprot.org/uniprot/A2AJK6#E9PV74-1", "isoform_ac": "E9PV74-1", "locus": { "end_pos": 8751505, "strand": "-", "start_pos": 8866652, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000170391", "id": "ENSMUST00000170391", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000127007", "id": "ENSMUSP00000127007", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PV74-1|CHD7_MOUSE Computationally mapped isoform of Chromodomain-helicase-DNA-binding protein 7 OS=Mus musculus OX=10090 GN=Chd7 PE=1 SV=1 CANONICAL=A2AJK6-1", "length": 941, "sequence": "MADPGMMSLFGEDGSLFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYSQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGGGGQMGVYPGIQNERHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQHGQPQQRMGQFSQGQEGLSQGSPFIATSGPGHLSHMPQQSPSMAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRNQTVPSPTVNNSGQYSRYPYSNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLVHQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGMPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQPRSFMGMSSAPRELTGHMRPNGCPGVGLADPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKSPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDGTSKAEEKGNDNEDENRDSEKSTDTVSAADSANGSVGAATAPAALPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGTSEEKAADKAEGGPCKDGETLEGSDAEENLDKTVESSILEDEVAQGEELDSLEGGDEIENTGNDE" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:320790", "resource": "KEGG Pathway", "id": "mmu:320790", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "annotation": "CHD7 and CHD8 bind in Oligodendrocyte precursor cells to a majority of ASD risk-associated genes, suggesting an implication of oligodendrocyte lineage cells in ASD neurological defects.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "annotation": "CHD7 and Runx1 interaction provides a braking mechanism for hematopoietic differentiation.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2AJK6#function", "annotation": "Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6#function", "id": "A2AJK6", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "annotation": "Study using human SH-SY5Y neuroblastoma and 293T cells and transgenic mouse model show that CHD7 directly regulates expression of retinoic acid synthetic enzyme ALDH1A3. Results indicate that ALDH1A3 acts with CHD7 in a common genetic pathway to regulate inner ear development, providing insights for exploration of the pathogenic mechanisms underlying CHARGE syndrome. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "annotation": "[review] recent and ongoing analyses of CHD7 function in mouse models and cell-based systems Review article", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZAP7-1", "protein_name": "DNA helicase", "sequence": { "length": 2984, "sequence": "MADPGMMSLFGEDGNIFSEGLEGLGECGYPENPVNPMGQQMPIDQGFPSLQPSLHHPSPNQNQTKLTHFDHYNQYEQKMHLMDQPNRMMGSAPGNGLASPHSQYHTPPVPQVPHGGGSGGGQMGVYPGMQNDRHGQSFVDGGSMWGPRAVQVPDQIRAPYQQQQPQPAPSGPPAQGHPQHMQQMGSYLARGDFSMQQPQQRMSQFSQGQEGLSQGSPFIATSGPGGHLSHMPQQSPNIAPSLRHPVQQQFHHHPAALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRSQTVPSPTVNNSGQYSPYPYRNLNQGLVNSTGMNQNLGLTNSTPMNQSVPRYPNAVGFPSNSGQGLMLQQPIHSSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGIPMDVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNIQQPRPFMGMSSTPRELTGHMRPNGCPGVGLADAQAIQERLIPGQQHPGQQPPFQQLPTCPPLQPHPGLHQSSPPHPHHQPWAQLHPSPQNTPQKVPVRQHSPSEPFLEKPVPDMTQVSGQNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIAAGDPSKGFGKDDFPGGVDNQELSRNSLDASQEETKKRKRPKVKKDPKELKEPREKKEPKTPKAPKTPKEPKERKAKTVTPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPGPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRLVKKQKESGEEVEVEEFYVKYKNFSYLHCQWASVEDLEKDKRIQQKIKRFKSKQGQSKFLSEIEDDLFNPDYVEVDRIMDFARSTDDRGEPVTHYLVKWCSLPYEDSTWELRQDLDQAKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILEEFKDAHNADSPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCIKPRRPQDKTQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEHDVETICRAILVYCLNHYRGDENIKSFIWDLITPTADGQTRALLNHSGLSAPVPRGRKGKKVKAQSMQPVVQDADWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVIGDQAEKILEGADSSEADVWIPEPFHAEVPADWWDKEADKSLLIGVFKHGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRAPFKDEIDEFANSPPEDKEDSMEAQSTGKHSESNAELGQLYWPNTSSLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLEKYFSCFVAMCRRVCRMPAKPEDEPPDLASLIEPITEERASRTLYRIELLRKIREQVLHHPQLSDRLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHILNDPELSFLDAHKSFAQNRGASTVPSLNTLAMGFGQAPPVIASAHAHEEKVMEQAEGKAEECEHSPAKERSDGKEEEEEAGGAKDSRQECEAEASSVKGELKGVEGSGDPGSKSVSEKGSEEDEEEKLEDDDKSEESSQPEGAVSRGKTFDEESNASMSTARDETRDGFYMEDGDPSVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPINRRQMFDFQGLVPGYPPSTVDSPLQKRSFAELSMVSQASVSASEDITTSPQLSKDDALNLSVPRQRRRRRRKVEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLTSKFILPNVSTPVSDAFKTQMELLQAGLSRTPTRHVLNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTPLSAEDAEVTKAFEEDIETPPIRNIPSPGQLDPDTRIPVINLEDGTRLVGEEAPKNKDLVDWLKLHPMYTVDMPSYVPKNADVLFSPFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKGPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDGTSKAEEKGNDNEDENRDSEKSTDAVSAADSANGSVGAATAPAALPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGASEEKAADKAEGGPCKDGETLEGSDAEENLDKTIESSILEDEVAQGEELDSLEGGDEIENNGNDE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/19067", "id": "19067", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Chd7", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q9P2D1-1", "protein_name": "Chromodomain-helicase-DNA-binding protein 7", "sequence": { "length": 2997, "sequence": "MADPGMMSLFGEDGNIFSEGLEGLGECGYPENPVNPMGQQMPIDQGFASLQPSLHHPSTNQNQTKLTHFDHYNQYEQQKMHLMDQPNRMMSNTPGNGLASPHSQYHTPPVPQVPHGGSGGGQMGVYPGMQNERHGQSFVDSSSMWGPRAVQVPDQIRAPYQQQQPQPQPPQPAPSGPPAQGHPQHMQQMGSYMARGDFSMQQHGQPQQRMSQFSQGQEGLNQGNPFIATSGPGHLSHVPQQSPSMAPSLRHSVQQFHHHPSTALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRSQTVPSPTINNSGQYSRYPYSNLNQGLVNNTGMNQNLGLTNNTPMNQSVPRYPNAVGFPSNSGQGLMHQQPIHPSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGIPMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQSRPFIGMSSAPRELTGHMRPNGCPGVGLGDPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQVSGPNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIVAEDPSKGFGKDDFPGGVDNQELNRNSLDGSQEEKKKKKRSKAKKDPKEPKEPKEKKEPKEPKTPKAPKIPKEPKEKKAKTATPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPPPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRSVKKQKESGEEVEIEEFYVKYKNFSYLHCQWASIEDLEKDKRIQQKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEPVTHYLVKWCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRTILVYCLNHYKGDENIKSFIWDLITPTADGQTRALVNHSGLSAPVPRGRKGKKVKAQSTQPVVQDADWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVIGDQADKILEGADSSEADVWIPEPFHAEVPADWWDKEADKSLLIGVFKHGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRTPFKDEIDEFANSPSEDKEESMEIHATGKHSESNAELGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLEKYFSCFVAMCRRVCRMPVKPDDEPPDLSSIIEPITEERASRTLYRIELLRKIREQVLHHPQLGERLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHILNDPELSFLDAHKNFAQNRGAGNTSSLNPLAVGFVQTPPVISSAHIQDERVLEQAEGKVEEPENPAAKEKCEGKEEEEETDGSGKESKQECEAEASSVKNELKGVEVGADTGSKSISEKGSEEDEEEKLEDDDKSEESSQPEAGAVSRGKNFDEESNASMSTARDETRDGFYMEDGDPSVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLIPGYTPTTVDSPLQKRSFAELSMVGQASISGSEDITTSPQLSKEDALNLSVPRQRRRRRRKIEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLSSKFILPNVSTPVSDAFKTQMELLQAGLSRTPTRHLLNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTSLSAEDAEVTKAFEEDIETPPTRNIPSPGQLDPDTRIPVINLEDGTRLVGEDAPKNKDLVEWLKLHPTYTVDMPSYVPKNADVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKNPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDSTSKGEEKGNENEDENKDSEKSTDAVSAADSANGSVGAATAPAGLPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGSSEEKAADKAEGGPFKDGETLEGSDAEESLDKTAESSLLEDEIAQGEELDSLDGGDEIENNENDE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/19067", "id": "19067", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "CHD7", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "ac": "NP_001264078.1", "name": "chromodomain-helicase-DNA-binding protein 7 isoform 1", "summary": "This gene encodes a protein containing two chromodomains and an ATP-binding helicase domain that functions as a regulator of transcription. Mutations in this gene result in an array of development defects, including inner ear problems. Mice defective for this gene exhibit many of the clinical features of the CHARGE syndrome caused by mutations in the homologous gene in human. [provided by RefSeq, Sep 2015]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "pmid": "23319608", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "promoter-specific chromatin binding", "id": "GO:1990841" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "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/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "DNA helicase activity", "id": "GO:0003678" } ], "total": 4, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "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/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "nucleoplasm", "id": "GO:0005654" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "nucleolus", "id": "GO:0005730" } ], "total": 3, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003226", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "right ventricular compact myocardium morphogenesis", "id": "GO:0003226" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021553", "pmid": "19279158", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "olfactory nerve development", "id": "GO:0021553" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030540", "pmid": "16207732", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "female genitalia development", "id": "GO:0030540" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036302", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "atrioventricular canal development", "id": "GO:0036302" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042048", "pmid": "19279158", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "olfactory behavior", "id": "GO:0042048" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043584", "pmid": "16207732", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "nose development", "id": "GO:0043584" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048752", "pmid": "19855134", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "semicircular canal morphogenesis", "id": "GO:0048752" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060384", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "innervation", "id": "GO:0060384" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060429", "pmid": "19279158", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "epithelium development", "id": "GO:0060429" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "pmid": "16207732", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "in utero embryonic development", "id": "GO:0001701" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "chromatin remodeling", "id": "GO:0006338" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "pmid": "10932191", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "locomotory behavior", "id": "GO:0007626" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "pmid": "15353999", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "inner ear morphogenesis", "id": "GO:0042472" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "blood vessel remodeling", "id": "GO:0001974" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "pmid": "16207732", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "blood circulation", "id": "GO:0008015" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "pmid": "23012479", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "response to bacterium", "id": "GO:0009617" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "pmid": "16207732", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "blood vessel development", "id": "GO:0001568" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "pmid": "16207732", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "heart morphogenesis", "id": "GO:0003007" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "pmid": "16207732", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "adult walking behavior", "id": "GO:0007628" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "pmid": "10932191", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "sensory perception of sound", "id": "GO:0007605" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "aorta development", "id": "GO:0035904" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "pmid": "16207732", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "roof of mouth development", "id": "GO:0060021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "pmid": "16207732", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010880", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "id": "GO:0010880" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007512", "pmid": "16207732", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "adult heart development", "id": "GO:0007512" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "aorta morphogenesis", "id": "GO:0035909" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "pmid": "19855134", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "artery morphogenesis", "id": "GO:0048844" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "pmid": "19279158", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "regulation of neurogenesis", "id": "GO:0050767" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "pmid": "16207732", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "positive regulation of multicellular organism growth", "id": "GO:0040018" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "pmid": "16207732", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "camera-type eye development", "id": "GO:0043010" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060411", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "cardiac septum morphogenesis", "id": "GO:0060411" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "pmid": "19279158", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "olfactory bulb development", "id": "GO:0021772" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "pmid": "26102480", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "tissue remodeling", "id": "GO:0048771" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042471", "pmid": "10932191", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "ear morphogenesis", "id": "GO:0042471" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021545", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "cranial nerve development", "id": "GO:0021545" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048806", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "genitalia development", "id": "GO:0048806" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060123", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "regulation of growth hormone secretion", "id": "GO:0060123" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "cognition", "id": "GO:0050890" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "central nervous system development", "id": "GO:0007417" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "skeletal system development", "id": "GO:0001501" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "retina development in camera-type eye", "id": "GO:0060041" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "face development", "id": "GO:0060324" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "limb development", "id": "GO:0060173" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "rRNA processing", "id": "GO:0006364" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "T cell differentiation", "id": "GO:0030217" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062009", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "secondary palate development", "id": "GO:0062009" } ], "total": 48, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AJK6", "type": "synonym", "resource": "RefSeq", "name": "A730019I05Rik; Cy; Cyc; Cycn; Cyn; Dz; Edy; F; Flo; GENA 47; Gena 52; GENA 60; L; Lda; metis; Mt; Ob; Obt; To; Todo; WBE1; Wh; Whi" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AJK6", "type": "synonym", "resource": "RefSeq", "name": "Chd7" }, { "url": "https://www.uniprot.org/uniprot/A2AJK6", "type": "recommended", "resource": "UniProtKB", "name": "Chd7" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000041235", "id": "ENSMUSG00000041235", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/320790", "id": "320790", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2AJK6*", "id": "A2AJK6", "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/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/IPR037259", "id": "IPR037259", "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:320790", "id": "mmu:320790", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:2444748", "id": "2444748", "database": "MGI" }, { "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://pfam.xfam.org/family/PF07533", "id": "PF07533", "database": "Pfam" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2AJK6", "id": "PR_A2AJK6", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264078.1", "id": "NP_001264078.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0008965", "url": 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