{ "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": "A0A0R4J1U9_MOUSE", "glycation": [], "keywords": [], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "reaction_enzymes": [ { "gene_name": "Dhx35", "uniprot_ac": "A0A0G2JTM6", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JTM6", "id": "A0A0G2JTM6", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JTM6", "id": "A0A0G2JTM6", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "" } ] }, { "gene_name": "Chd9", "uniprot_ac": "A0A0G2JXQ2", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXQ2", "id": "A0A0G2JXQ2", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXQ2", "id": "A0A0G2JXQ2", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Mcm5", "uniprot_ac": "A0A0G2JY07", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JY07", "id": "A0A0G2JY07", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JY07", "id": "A0A0G2JY07", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "RGD1564855", "uniprot_ac": "A0A0G2K0H9", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K0H9", "id": "A0A0G2K0H9", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K0H9", "id": "A0A0G2K0H9", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Dhx8", "uniprot_ac": "A0A0G2K283", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K283", "id": "A0A0G2K283", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K283", "id": "A0A0G2K283", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "" } ] }, { "gene_name": "Chd2", "uniprot_ac": "A0A0G2KA92", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KA92", "id": "A0A0G2KA92", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2KA92", "id": "A0A0G2KA92", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Dhx8", "uniprot_ac": "A2A4P0", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A4P0", "id": "A2A4P0", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A4P0", "id": "A2A4P0", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "" } ] }, { "gene_name": "Chd5", "uniprot_ac": "A2A8L1", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A8L1", "id": "A2A8L1", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A8L1", "id": "A2A8L1", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Dhx35", "uniprot_ac": "A2ACQ1", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ACQ1", "id": "A2ACQ1", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ACQ1", "id": "A2ACQ1", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "" } ] }, { "gene_name": "Chd7", "uniprot_ac": "A2AJK6", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "HFM1", "uniprot_ac": "A2PYH4", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Chd6", "uniprot_ac": "A3KFM7", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KFM7", "id": "A3KFM7", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "SMCHD1", "uniprot_ac": "A6NHR9", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NHR9", "id": "A6NHR9", "database": "UniProtKB" } ], "ec_number": "3.6.1.-", "activity": "" } ] }, { "gene_name": "DDX11L8", "uniprot_ac": "A8MPP1", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A8MPP1", "id": "A8MPP1", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A8MPP1", "id": "A8MPP1", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "" } ] }, { "gene_name": "Chd3", "uniprot_ac": "B1AR17", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/B1AR17", "id": "B1AR17", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/B1AR17", "id": "B1AR17", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Ythdc2", "uniprot_ac": "B2RR83", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/B2RR83", "id": "B2RR83", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/B2RR83", "id": "B2RR83", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "" } ] }, { "gene_name": "Ddx41", "uniprot_ac": "B2RYL8", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/B2RYL8", "id": "B2RYL8", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/B2RYL8", "id": "B2RYL8", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "" } ] }, { "gene_name": "Hfm1", "uniprot_ac": "D3Z4R1", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3Z4R1", "id": "D3Z4R1", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3Z4R1", "id": "D3Z4R1", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Smarcad1", "uniprot_ac": "D3Z9Z9", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3Z9Z9", "id": "D3Z9Z9", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3Z9Z9", "id": "D3Z9Z9", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Chd6", "uniprot_ac": "D3ZA12", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZA12", "id": "D3ZA12", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZA12", "id": "D3ZA12", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Chd7", "uniprot_ac": "D3ZAP7", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZAP7", "id": "D3ZAP7", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZAP7", "id": "D3ZAP7", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Chd5", "uniprot_ac": "D3ZD32", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZD32", "id": "D3ZD32", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZD32", "id": "D3ZD32", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Dhx58", "uniprot_ac": "D3ZD46", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZD46", "id": "D3ZD46", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZD46", "id": "D3ZD46", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "" } ] }, { "gene_name": "Dhx15", "uniprot_ac": "D3ZD97", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZD97", "id": "D3ZD97", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZD97", "id": "D3ZD97", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "" } ] }, { "gene_name": "Ercc2", "uniprot_ac": "D3ZEG9", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZEG9", "id": "D3ZEG9", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZEG9", "id": "D3ZEG9", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Mcm3", "uniprot_ac": "D3ZFP4", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZFP4", "id": "D3ZFP4", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZFP4", "id": "D3ZFP4", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Dna2", "uniprot_ac": "D3ZG52", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZG52", "id": "D3ZG52", "database": "UniProtKB" } ], "ec_number": "3.1.-.-", "activity": "" }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZG52", "id": "D3ZG52", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." } ] }, { "gene_name": "Dhx29", "uniprot_ac": "D3ZHW0", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZHW0", "id": "D3ZHW0", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZHW0", "id": "D3ZHW0", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "" } ] }, { "gene_name": "Ddx54", "uniprot_ac": "D3ZHY6", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZHY6", "id": "D3ZHY6", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZHY6", "id": "D3ZHY6", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "" } ] }, { "gene_name": "Ythdc2", "uniprot_ac": "D3ZIV8", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZIV8", "id": "D3ZIV8", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZIV8", "id": "D3ZIV8", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "" } ] }, { "gene_name": "Mcm2", "uniprot_ac": "D3ZP96", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZP96", "id": "D3ZP96", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZP96", "id": "D3ZP96", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Blm", "uniprot_ac": "D3ZQW1", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZQW1", "id": "D3ZQW1", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZQW1", "id": "D3ZQW1", "database": "UniProtKB" } ], "ec_number": "3.6.4.12", "activity": "" } ] }, { "gene_name": "Dhx33", "uniprot_ac": "D3ZSV6", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZSV6", "id": "D3ZSV6", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZSV6", "id": "D3ZSV6", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "" } ] }, { "gene_name": "Mov10", "uniprot_ac": "D3ZUC2", "activity": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/D3ZUC2", "id": "D3ZUC2", "database": "UniProtKB" } ], "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate." }, { "evidence": [ { "url": 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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" }, { "url": "https://www.uniprot.org/uniprot/A0A0R4J1U9", "id": "A0A0R4J1U9", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/E9PV74", "id": "E9PV74", "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", "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" } ], "reactions": [ { "output_participant_list": [], "evidence": [ { "url": "https://www.rhea-db.org/rhea/13065", "id": "13065", "database": "Rhea" } ], "name": "", "cellular_location": "", "equation": "ATP + H2O = ADP + H(+) + phosphate", "input_participant_list": [], "enzyme_list": [ "F1M9L4-1", "F1MA70-1", "D3ZHW0-1", "D3ZHY6-1", "A0A0G2JXQ2-1", "Q6AYI1-1", "A0A0G2KA92-1", "D4A9D6-1", "Q9QUL6-1", "D4A321-1", "Q5BJS0-1", "D3ZIV8-1", "D3ZAP7-1", "Q6MG13-1", "F1LTH9-1", "D4A5W5-1", "G3V6W5-1", "G3V681-1", "F1LNJ2-1", "P46462-1", "A0A0G2JY07-1", "Q4KLL7-1", "D3ZA12-1", "D4AAG9-1", "K3W4U8-1", "D3ZD32-1", "A0A0G2K283-1", "P60123-1", "D4A2Z8-1", "F1LPQ2-1", "P70486-1", "Q64060-1", "Q66HG7-1", "Q99PT0-1", "Q9JIX5-1", "Q3B8Q2-1", "Q5RKI1-1", "D3Z9Z9-1", "Q5EBA1-1", "Q68G38-1", "Q9EQN5-1", "D4ACP5-1", "Q01750-1", "Q3MHU3-1", "Q5RJZ1-1", "Q6AYJ1-1", "Q793F9-1", "D3ZG52-1", "P06761-1", "Q4G005-1", "Q5U216-1", "Q62780-1", "Q63413-1", "Q641Y8-1", "Q1HG60-1", "Q6GX84-1", "Q5XI69-1", "F1M5F3-1", "Q3B8Q1-1", "Q62724-1", "Q9QY16-1", "P16261-1", "E9PU01-1", "D3ZD46-1", "Q8CG07-1", "Q5XI46-1", "A0A0G2JTM6-1", "D3ZVK1-1", "A0A0G2K0H9-1", "D3ZFP4-1", "G3V8T5-1", "Q9WTT2-1", "B2RYL8-1", "D3ZUC2-1", "Q6AYN8-1", "G3V7I3-1", "D3ZP96-1", "Q505J9-1", "F1M298-1", "D3ZQW1-1", "F1LPP8-1", "D3ZEG9-1", "D3ZD97-1", "D3ZSV6-1", "Q5H9U9-1", "P33991-1", "P46100-1", "Q86WJ1-1", "Q8TDI0-1", "Q9Y230-1", "Q3L8U1-1", "Q9HCK8-1", "Q9P2D1-1", "Q13206-1", "Q9NQI0-1", "Q86XP3-1", "Q96GQ7-1", "Q9BUQ8-1", "Q9H8H2-1", "Q9NUU7-1", "Q9UJV9-1", "Q9BQ39-1", "Q9NXZ2-1", "Q9NY93-1", "O00148-1", "P19447-1", "Q14566-1", "P33993-1", "Q8NDG6-1", "Q587J7-1", "O14656-1", "Q92698-1", "Q14839-1", "Q4VNC0-1", "Q9H7F0-1", "Q9UMR2-1", "O75351-1", "O94762-1", "Q9H5Z1-1", "P18074-1", "P51530-1", "Q9Y265-1", "P33992-1", "Q8TDD1-1", "Q7Z478-1", "P49736-1", "Q8NG08-1", "Q4VNC1-1", "O95786-1", "Q9HCE1-1", "Q8TD26-1", "Q12873-1", "Q8IY21-1", "Q9Y4B4-1", "Q9HD20-1", "O14646-1", "O14647-1", "O43143-1", "Q14147-1", "Q6P158-1", "Q8IX18-1", "Q92771-1", "Q9Y2R4-1", "Q9NVP1-1", "Q9UHL0-1", "O15523-1", "O60231-1", "Q14562-1", "Q7L7V1-1", "Q86TM3-1", "Q96C10-1", "Q9GZR7-1", "Q9H6R0-1", "Q9NUL7-1", "Q9UHI6-1", "Q9Y6V7-1", "Q5T1V6-1", "Q7L2E3-1", "Q8NHQ9-1", "P17844-1", "Q7L014-1", "Q8N8A6-1", "Q9H0S4-1", "Q6PIW4-1", "Q9BX63-1", "Q13283-1", "Q9BYX4-1", "Q9NXL9-1", "Q9UJA3-1", "Q8IVL1-1", "P46459-1", "Q9H611-1", "Q92620-1", "Q9NZ71-1", "Q8IYB8-1", "P13984-1", "O60306-1", "Q8N3C0-1", "A8MPP1-1", "Q92841-4", "Q2NKX8-1", "Q8IYD8-1", "P11021-1", "A2PYH4-1", "P60842-1", "Q14240-1", "Q9BXT6-1", "P25205-1", "O94761-1", "Q9H4L7-1", "Q8NB90-1", "P38935-1", "P55072-1", "Q14191-1", "Q8TE96-1", "Q9NR30-1", "Q13838-1", "Q8TDG4-1", "P38919-1", "Q96RR1-1", "P46063-1", "A6NHR9-1", "O75643-1", "Q9UN37-1", "Q9H6S0-1", "P42285-1", "P54132-1", "Q9H2U1-1", "Q08211-1", "Q96FC9-1", "Q8NFZ0-1", "Q9ULG1-1", "O14657-1", "P26196-1", "O00571-1", "Q9H8K7-1", "Q8IY37-1", "Q92499-1", "Q8NBU5-1", "Q6PL18-1", "Q96S55-1", "Q9H078-1", "Q9Y6X9-1", "Q8BGE5-1", "Q99NG0-1", "O88700-1", "A2A4P0-1", "Q62095-1", "Q99PU8-1", "O35286-1", "Q6PGC1-1", "Q9Z1N5-1", "Q8BHK9-1", "Q8VDW0-1", "P10630-1", "Q8R5F7-1", "Q2KHI9-1", "P97310-1", "P23249-1", "P46460-1", "Q04692-1", "Q9CWU0-1", "Q9ER39-1", "Q9ER41-1", "Q9WTM5-1", "P70270-1", "Q62167-1", "Q61655-1", "P54823-1", "Q5XF90-1", "Q3TYU2-1", "A2ACQ1-1", "A3KFM7-1", "Q6PDQ2-1", "O08811-1", "Q75NR7-1", "Q9Z129-1", "Q61881-1", "B1AR17-1", "O09053-1", "Q8BYH8-1", "G3X8X0-1", "P49717-1", "Q9D5T0-1", "Q60649-1", "A2AJK6-1", "Q9CWX9-1", "Q6PE54-1", "A2A8L1-1", "E9PZM4-1", "Q9CXF7-1", "Q61656-1", "Q6ZPL9-1", "Q8K363-1", "P16381-1", "Q4FZF3-1", "Q501J6-1", "Q8K301-1", "Q8VHK9-1", "Q921N6-1", "Q9CWT6-1", "Q9D0R4-1", "Q9DBV3-1", "Q61496-1", "Q6AXC6-1", "Q6P9R1-1", "Q80VY9-1", "Q80Y44-1", "Q99MJ9-1", "Q9JJY4-1", "Q9QY15-1", "P49135-1", "Q8BPY9-1", "Q8K2I9-1", "Q2VPA6-1", "Q6ZPV2-1", "P49718-1", "P97311-1", "Q99MV5-1", "Q8VID5-1", "P60122-1", "Q80YD1-1", "Q8CFQ3-1", "Q61687-1", "Q09XV5-1", "Q569Z5-1", "Q810A7-1", "Q9DBN9-1", "Q6P5D3-1", "Q6Q899-1", "Q8K4L0-1", "Q6ZQJ5-1", "Q99J87-1", "Q6NZQ2-1", "Q8BZS9-1", "Q91VN6-1", "Q91VR5-1", "Q9ESV0-1", "P20029-1", "Q91VC3-1", "Q8CIW5-1", "Q80SX8-1", "Q0VGM9-1", "Q3UMC0-1", "P40694-1", "E9PZJ8-1", "Q5XF89-1", "Q9EPE9-1", "P40201-1", "Q924H9-1", "Q5SXJ3-1", "Q6NVF4-1", "D3Z4R1-1", "P60843-1", "P25206-1", "Q01853-1", "Q8R0A0-1", "Q14BI7-1", "O70133-1", "P97855-1", "Q6P5D8-1", "Q6P4T2-1", "P46467-1", "Q8VEJ9-1", "B2RR83-1", "Q9JIK5-1", "Q9CWV1-1", "Q9CZU3-1", "Q9D2Q3-1", "Q69ZX6-1", "Q9WV86-1", "Q8CDM1-1", "Q80X98-1", "Q8C5W4-1", "Q91XU0-1" ], "id": "13065", "summary": "" } ], "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|A0A0R4J1U9_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|A0A1Y7VIV0_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|E9PV74_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": "" } ], "reaction_participants": [], "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" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004386", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "helicase activity", "id": "GO:0004386" } ], "total": 5, "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" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJK6", "id": "A2AJK6", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" } ], "total": 4, "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": 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