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CHD7 англ Chromodomain helicase DNA binding protein 7 білок який кодується однойменним геном розташованим у людей на кор

CHD7

CHD7

CHD7 (англ. Chromodomain helicase DNA binding protein 7) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 8-ї хромосоми. Довжина поліпептидного ланцюга білка становить 2 997 амінокислот, а молекулярна маса — 335 927.

CHD7
image
Наявні структури
PDBПошук ортологів: PDBe RCSB
Ідентифікатори
Символи CHD7, CRG, HH5, IS3, KAL5, chromodomain helicase DNA binding protein 7
Зовнішні ІД OMIM: 608892 MGI: 2444748 HomoloGene: 19067 GeneCards: CHD7
Пов'язані генетичні захворювання
CHARGE syndrome, hypogonadotropic hypogonadism 5 with or without anosmia
Ортологи
Види Людина Миша
Entrez
55636
320790
Ensembl
ENSG00000171316
ENSMUSG00000041235
UniProt
Q9P2D1
A2AJK6
RefSeq (мРНК)
NM_017780
NM_001316690
NM_017783
NM_001033395
NM_001081417
NM_001277149
NM_001355382
RefSeq (білок)
NP_001303619
NP_060250
NP_001264078
NP_001342311
Локус (UCSC) Хр. 8: 60.68 – 60.87 Mb Хр. 4: 8.69 – 8.87 Mb
PubMed search
Вікідані
Див./Ред. для людейДив./Ред. для мишей
Послідовність амінокислот
1020304050
MADPGMMSLFGEDGNIFSEGLEGLGECGYPENPVNPMGQQMPIDQGFASL
QPSLHHPSTNQNQTKLTHFDHYNQYEQQKMHLMDQPNRMMSNTPGNGLAS
PHSQYHTPPVPQVPHGGSGGGQMGVYPGMQNERHGQSFVDSSSMWGPRAV
QVPDQIRAPYQQQQPQPQPPQPAPSGPPAQGHPQHMQQMGSYMARGDFSM
QQHGQPQQRMSQFSQGQEGLNQGNPFIATSGPGHLSHVPQQSPSMAPSLR
HSVQQFHHHPSTALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRSQTVP
SPTINNSGQYSRYPYSNLNQGLVNNTGMNQNLGLTNNTPMNQSVPRYPNA
VGFPSNSGQGLMHQQPIHPSGSLNQMNTQTMHPSQPQGTYASPPPMSPMK
AMSNPAGTPPPQVRPGSAGIPMEVGSYPNMPHPQPSHQPPGAMGIGQRNM
GPRNMQQSRPFIGMSSAPRELTGHMRPNGCPGVGLGDPQAIQERLIPGQQ
HPGQQPSFQQLPTCPPLQPHPGLHHQSSPPHPHHQPWAQLHPSPQNTPQK
VPVHQHSPSEPFLEKPVPDMTQVSGPNAQLVKSDDYLPSIEQQPQQKKKK
KKNNHIVAEDPSKGFGKDDFPGGVDNQELNRNSLDGSQEEKKKKKRSKAK
KDPKEPKEPKEKKEPKEPKTPKAPKIPKEPKEKKAKTATPKPKSSKKSSN
KKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPPPEEDEDPGVQKRRS
SRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGP
VVEKIMSSRSVKKQKESGEEVEIEEFYVKYKNFSYLHCQWASIEDLEKDK
RIQQKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEP
VTHYLVKWCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETERVERPPA
DDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKT
IQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQ
ASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWR
CVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSLLHF
LEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAP
KEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRK
CCNHPYLINGAEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLP
KLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAID
RFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARC
HRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATN
GVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITI
ESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNN
LVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQG
YARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRTILVYC
LNHYKGDENIKSFIWDLITPTADGQTRALVNHSGLSAPVPRGRKGKKVKA
QSTQPVVQDADWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQ
EVIGDQADKILEGADSSEADVWIPEPFHAEVPADWWDKEADKSLLIGVFK
HGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDR
EDEDPEYKPTRTPFKDEIDEFANSPSEDKEESMEIHATGKHSESNAELGQ
LYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRA
LEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAF
ARLDKKSDESLEKYFSCFVAMCRRVCRMPVKPDDEPPDLSSIIEPITEER
ASRTLYRIELLRKIREQVLHHPQLGERLKLCQPSLDLPEWWECGRHDRDL
LVGAAKHGVSRTDYHILNDPELSFLDAHKNFAQNRGAGNTSSLNPLAVGF
VQTPPVISSAHIQDERVLEQAEGKVEEPENPAAKEKCEGKEEEEETDGSG
KESKQECEAEASSVKNELKGVEVGADTGSKSISEKGSEEDEEEKLEDDDK
SEESSQPEAGAVSRGKNFDEESNASMSTARDETRDGFYMEDGDPSVAQLL
HERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLIPGYT
PTTVDSPLQKRSFAELSMVGQASISGSEDITTSPQLSKEDALNLSVPRQR
RRRRRKIEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASRE
ATSSTSNFSSLSSKFILPNVSTPVSDAFKTQMELLQAGLSRTPTRHLLNG
SLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTSLSAEDAEVTKAFEEDIE
TPPTRNIPSPGQLDPDTRIPVINLEDGTRLVGEDAPKNKDLVEWLKLHPT
YTVDMPSYVPKNADVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVV
NKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMF
DRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLF
AGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKNPAAVLPLML
PGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDSTSKGEEKGNEN
EDENKDSEKSTDAVSAADSANGSVGAATAPAGLPSNPLAFNPFLLSTMAP
GLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGSSEEKAADKAEGGPFKDG
ETLEGSDAEESLDKTAESSLLEDEIAQGEELDSLDGGDEIENNENDE

Кодований геном білок за функціями належить до гідролаз, геліказ, , фосфопротеїнів. Задіяний у таких біологічних процесах, як транскрипція, регуляція транскрипції, процесінг рРНК, альтернативний сплайсинг. Білок має сайт для зв'язування з АТФ, нуклеотидами, ДНК. Локалізований у ядрі.

Література

  • Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. (2000). Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 7: 65—73. PMID 10718198 DOI:10.1093/dnares/7.1.65
  • The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004. PMID 15489334 DOI:10.1101/gr.2596504
  • Kita Y., Nishiyama M., Nakayama K.I. (2012). Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L. Genes Cells. 17: 536—547. PMID 22646239 DOI:10.1111/j.1365-2443.2012.01606.x
  • Felix T.M., Hanshaw B.C., Mueller R., Bitoun P., Murray J.C. (2006). CHD7 gene and non-syndromic cleft lip and palate. Am. J. Med. Genet. A. 140: 2110—2114. PMID 16763960 DOI:10.1002/ajmg.a.31308
  • Allen M.D., Religa T.L., Freund S.M., Bycroft M. (2007). Solution structure of the BRK domains from CHD7. J. Mol. Biol. 371: 1135—1140. PMID 17603073 DOI:10.1016/j.jmb.2007.06.007
  • Bartels C.F., Scacheri C., White L., Scacheri P.C., Bale S. (2010). Mutations in the CHD7 gene: the experience of a commercial laboratory. Genet. Test. Mol. Biomarkers. 14: 881—891. PMID 21158681 DOI:10.1089/gtmb.2010.0101

Примітки

  1. Захворювання, генетично пов'язані з CHD7 переглянути/редагувати посилання на ВікіДаних.
  2. Human PubMed Reference:.
  3. Mouse PubMed Reference:.
  4. HUGO Gene Nomenclature Commitee, HGNC:20626 (англ.) . Процитовано 7 вересня 2017.
  5. (англ.) . Архів оригіналу за 13 вересня 2017. Процитовано 7 вересня 2017.

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CHD7 angl Chromodomain helicase DNA binding protein 7 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 8 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 2 997 aminokislot a molekulyarna masa 335 927 CHD7Nayavni strukturiPDBPoshuk ortologiv PDBe RCSB Spisok kodiv PDB2CKC 2V0E 2V0FIdentifikatoriSimvoliCHD7 CRG HH5 IS3 KAL5 chromodomain helicase DNA binding protein 7Zovnishni ID OMIM 608892 MGI 2444748 HomoloGene 19067 GeneCards CHD7Pov yazani genetichni zahvoryuvannyaCHARGE syndrome hypogonadotropic hypogonadism 5 with or without anosmia Ontologiya genaMolekulyarna funkciya nucleotide binding DNA binding GO 0008026 helicase activity chromatin binding GO 0000980 RNA polymerase II cis regulatory region sequence specific DNA binding hydrolase activity acting on acid anhydrides GO 0001948 GO 0016582 protein binding hydrolase activity ATP binding promoter specific chromatin bindingKlitinna komponenta klitinne yadro nukleoplazma yaderceBiologichnij proces skeletal system development olfactory behavior semicircular canal morphogenesis GO 0009373 regulation of transcription DNA templated kognitivnist locomotory behavior adult heart development cranial nerve development heart morphogenesis olfactory nerve development in utero embryonic development sluh krovoobig transcription DNA templated epithelium development genitalia development limb development ear morphogenesis regulation of growth hormone secretion central nervous system development T cell differentiation face development blood vessel development retina development in camera type eye inner ear morphogenesis artery morphogenesis positive regulation of multicellular organism growth rRNA processing camera type eye development olfactory bulb development nose development rozvitok zhinochih genitalij regulation of neurogenesis adult walking behavior embryonic hindlimb morphogenesis ventricular trabecula myocardium morphogenesis tissue remodeling aorta morphogenesis GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II right ventricular compact myocardium morphogenesis regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum aorta development atrioventricular canal development blood vessel remodeling remodelyuvannya hromatinu cardiac septum morphogenesis innervaciya GO 0031497 GO 0006336 GO 0034724 GO 0001301 GO 0007580 GO 0034652 GO 0010847 chromatin organization roof of mouth development secondary palate development response to bacteriumDzherela Amigo QuickGOOrtologiVidi Lyudina MishaEntrez55636 320790Ensembl ENSG00000171316 ENSMUSG00000041235UniProt Q9P2D1 A2AJK6RefSeq mRNK NM 017780 NM 001316690 NM 017783NM 001033395 NM 001081417 NM 001277149 NM 001355382RefSeq bilok NP 001303619 NP 060250NP 001264078 NP 001342311Lokus UCSC Hr 8 60 68 60 87 MbHr 4 8 69 8 87 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MADPGMMSLFGEDGNIFSEGLEGLGECGYPENPVNPMGQQMPIDQGFASL QPSLHHPSTNQNQTKLTHFDHYNQYEQQKMHLMDQPNRMMSNTPGNGLAS PHSQYHTPPVPQVPHGGSGGGQMGVYPGMQNERHGQSFVDSSSMWGPRAV QVPDQIRAPYQQQQPQPQPPQPAPSGPPAQGHPQHMQQMGSYMARGDFSM QQHGQPQQRMSQFSQGQEGLNQGNPFIATSGPGHLSHVPQQSPSMAPSLR HSVQQFHHHPSTALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRSQTVP SPTINNSGQYSRYPYSNLNQGLVNNTGMNQNLGLTNNTPMNQSVPRYPNA VGFPSNSGQGLMHQQPIHPSGSLNQMNTQTMHPSQPQGTYASPPPMSPMK AMSNPAGTPPPQVRPGSAGIPMEVGSYPNMPHPQPSHQPPGAMGIGQRNM GPRNMQQSRPFIGMSSAPRELTGHMRPNGCPGVGLGDPQAIQERLIPGQQ HPGQQPSFQQLPTCPPLQPHPGLHHQSSPPHPHHQPWAQLHPSPQNTPQK VPVHQHSPSEPFLEKPVPDMTQVSGPNAQLVKSDDYLPSIEQQPQQKKKK KKNNHIVAEDPSKGFGKDDFPGGVDNQELNRNSLDGSQEEKKKKKRSKAK KDPKEPKEPKEKKEPKEPKTPKAPKIPKEPKEKKAKTATPKPKSSKKSSN KKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPPPEEDEDPGVQKRRS SRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGP VVEKIMSSRSVKKQKESGEEVEIEEFYVKYKNFSYLHCQWASIEDLEKDK RIQQKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEP VTHYLVKWCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETERVERPPA DDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKT IQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQ ASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWR CVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSLLHF LEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAP KEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRK CCNHPYLINGAEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLP KLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAID RFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARC HRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATN GVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITI ESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNN LVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQG YARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRTILVYC LNHYKGDENIKSFIWDLITPTADGQTRALVNHSGLSAPVPRGRKGKKVKA QSTQPVVQDADWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQ EVIGDQADKILEGADSSEADVWIPEPFHAEVPADWWDKEADKSLLIGVFK HGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDR EDEDPEYKPTRTPFKDEIDEFANSPSEDKEESMEIHATGKHSESNAELGQ LYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRA LEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAF ARLDKKSDESLEKYFSCFVAMCRRVCRMPVKPDDEPPDLSSIIEPITEER ASRTLYRIELLRKIREQVLHHPQLGERLKLCQPSLDLPEWWECGRHDRDL LVGAAKHGVSRTDYHILNDPELSFLDAHKNFAQNRGAGNTSSLNPLAVGF VQTPPVISSAHIQDERVLEQAEGKVEEPENPAAKEKCEGKEEEEETDGSG KESKQECEAEASSVKNELKGVEVGADTGSKSISEKGSEEDEEEKLEDDDK SEESSQPEAGAVSRGKNFDEESNASMSTARDETRDGFYMEDGDPSVAQLL HERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLIPGYT PTTVDSPLQKRSFAELSMVGQASISGSEDITTSPQLSKEDALNLSVPRQR RRRRRKIEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASRE ATSSTSNFSSLSSKFILPNVSTPVSDAFKTQMELLQAGLSRTPTRHLLNG SLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTSLSAEDAEVTKAFEEDIE TPPTRNIPSPGQLDPDTRIPVINLEDGTRLVGEDAPKNKDLVEWLKLHPT YTVDMPSYVPKNADVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVV NKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMF DRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLF AGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKNPAAVLPLML PGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDSTSKGEEKGNEN EDENKDSEKSTDAVSAADSANGSVGAATAPAGLPSNPLAFNPFLLSTMAP GLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGSSEEKAADKAEGGPFKDG ETLEGSDAEESLDKTAESSLLEDEIAQGEELDSLDGGDEIENNENDE A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyami nalezhit do gidrolaz gelikaz fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak transkripciya regulyaciya transkripciyi procesing rRNK alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z ATF nukleotidami DNK Lokalizovanij u yadri LiteraturaNagase T Kikuno R Ishikawa K Hirosawa M Ohara O 2000 Prediction of the coding sequences of unidentified human genes XVI The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro DNA Res 7 65 73 PMID 10718198 DOI 10 1093 dnares 7 1 65 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PMID 15489334 DOI 10 1101 gr 2596504 Kita Y Nishiyama M Nakayama K I 2012 Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full length CHD7L Genes Cells 17 536 547 PMID 22646239 DOI 10 1111 j 1365 2443 2012 01606 x Felix T M Hanshaw B C Mueller R Bitoun P Murray J C 2006 CHD7 gene and non syndromic cleft lip and palate Am J Med Genet A 140 2110 2114 PMID 16763960 DOI 10 1002 ajmg a 31308 Allen M D Religa T L Freund S M Bycroft M 2007 Solution structure of the BRK domains from CHD7 J Mol Biol 371 1135 1140 PMID 17603073 DOI 10 1016 j jmb 2007 06 007 Bartels C F Scacheri C White L Scacheri P C Bale S 2010 Mutations in the CHD7 gene the experience of a commercial laboratory Genet Test Mol Biomarkers 14 881 891 PMID 21158681 DOI 10 1089 gtmb 2010 0101PrimitkiZahvoryuvannya genetichno pov yazani z CHD7 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 20626 angl Procitovano 7 veresnya 2017 angl Arhiv originalu za 13 veresnya 2017 Procitovano 7 veresnya 2017 Div takozhHromosoma 8 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi

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