Tag | Content |
---|---|
Uniprot ID | Q9P2D1; D0VBA5; E9PNZ2; Q05DI5; Q2TAN4; Q66K35; Q7Z6C0; Q7Z7Q2; Q9NXA0; Q9NXA3; |
Entrez ID | 55636 |
Genbank protein ID | BAA92654.1; AAH14681.1; BAA91113.1; AAH80627.1; AAH51264.1; AAH68000.1; AAI10819.1; BAA91116.1; ACY35999.1; AAH53890.1; |
Genbank nucleotide ID | NM_001316690.1; NM_017780.3; |
Ensembl protein ID | ENSP00000436027; ENSP00000392028; ENSP00000437061; |
Ensembl nucleotide ID | ENSG00000171316 |
Gene name | Chromodomain-helicase-DNA-binding protein 7 |
Gene symbol | CHD7 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Manually collected |
Reference | 18073582 |
Functional description | Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production. |
Sequence | MADPGMMSLF GEDGNIFSEG LEGLGECGYP ENPVNPMGQQ MPIDQGFASL QPSLHHPSTN 60 QNQTKLTHFD HYNQYEQQKM HLMDQPNRMM SNTPGNGLAS PHSQYHTPPV PQVPHGGSGG 120 GQMGVYPGMQ NERHGQSFVD SSSMWGPRAV QVPDQIRAPY QQQQPQPQPP QPAPSGPPAQ 180 GHPQHMQQMG SYMARGDFSM QQHGQPQQRM SQFSQGQEGL NQGNPFIATS GPGHLSHVPQ 240 QSPSMAPSLR HSVQQFHHHP STALHGESVA HSPRFSPNPP QQGAVRPQTL NFSSRSQTVP 300 SPTINNSGQY SRYPYSNLNQ GLVNNTGMNQ NLGLTNNTPM NQSVPRYPNA VGFPSNSGQG 360 LMHQQPIHPS GSLNQMNTQT MHPSQPQGTY ASPPPMSPMK AMSNPAGTPP PQVRPGSAGI 420 PMEVGSYPNM PHPQPSHQPP GAMGIGQRNM GPRNMQQSRP FIGMSSAPRE LTGHMRPNGC 480 PGVGLGDPQA IQERLIPGQQ HPGQQPSFQQ LPTCPPLQPH PGLHHQSSPP HPHHQPWAQL 540 HPSPQNTPQK VPVHQHSPSE PFLEKPVPDM TQVSGPNAQL VKSDDYLPSI EQQPQQKKKK 600 KKNNHIVAED PSKGFGKDDF PGGVDNQELN RNSLDGSQEE KKKKKRSKAK KDPKEPKEPK 660 EKKEPKEPKT PKAPKIPKEP KEKKAKTATP KPKSSKKSSN KKPDSEASAL KKKVNKGKTE 720 GSENSDLDKT PPPSPPPEED EDPGVQKRRS SRQVKRKRYT EDLEFKISDE EADDADAAGR 780 DSPSNTSQSE QQESVDAEGP VVEKIMSSRS VKKQKESGEE VEIEEFYVKY KNFSYLHCQW 840 ASIEDLEKDK RIQQKIKRFK AKQGQNKFLS EIEDELFNPD YVEVDRIMDF ARSTDDRGEP 900 VTHYLVKWCS LPYEDSTWER RQDIDQAKIE EFEKLMSREP ETERVERPPA DDWKKSESSR 960 EYKNNNKLRE YQLEGVNWLL FNWYNMRNCI LADEMGLGKT IQSITFLYEI YLKGIHGPFL 1020 VIAPLSTIPN WEREFRTWTE LNVVVYHGSQ ASRRTIQLYE MYFKDPQGRV IKGSYKFHAI 1080 ITTFEMILTD CPELRNIPWR CVVIDEAHRL KNRNCKLLEG LKMMDLEHKV LLTGTPLQNT 1140 VEELFSLLHF LEPSRFPSET TFMQEFGDLK TEEQVQKLQA ILKPMMLRRL KEDVEKNLAP 1200 KEETIIEVEL TNIQKKYYRA ILEKNFTFLS KGGGQANVPN LLNTMMELRK CCNHPYLING 1260 AEEKILEEFK ETHNAESPDF QLQAMIQAAG KLVLIDKLLP KLKAGGHRVL IFSQMVRCLD 1320 ILEDYLIQRR YPYERIDGRV RGNLRQAAID RFSKPDSDRF VFLLCTRAGG LGINLTAADT 1380 CIIFDSDWNP QNDLQAQARC HRIGQSKSVK IYRLITRNSY EREMFDKASL KLGLDKAVLQ 1440 SMSGRENATN GVQQLSKKEI EDLLRKGAYG ALMDEEDEGS KFCEEDIDQI LLRRTHTITI 1500 ESEGKGSTFA KASFVASGNR TDISLDDPNF WQKWAKKAEL DIDALNGRNN LVIDTPRVRK 1560 QTRLYSAVKE DELMEFSDLE SDSEEKPCAK PRRPQDKSQG YARSECFRVE KNLLVYGWGR 1620 WTDILSHGRY KRQLTEQDVE TICRTILVYC LNHYKGDENI KSFIWDLITP TADGQTRALV 1680 NHSGLSAPVP RGRKGKKVKA QSTQPVVQDA DWLASCNPDA LFQEDSYKKH LKHHCNKVLL 1740 RVRMLYYLRQ EVIGDQADKI LEGADSSEAD VWIPEPFHAE VPADWWDKEA DKSLLIGVFK 1800 HGYEKYNSMR ADPALCFLER VGMPDAKAIA AEQRGTDMLA DGGDGGEFDR EDEDPEYKPT 1860 RTPFKDEIDE FANSPSEDKE ESMEIHATGK HSESNAELGQ LYWPNTSTLT TRLRRLITAY 1920 QRSYKRQQMR QEALMKTDRR RRRPREEVRA LEAEREAIIS EKRQKWTRRE EADFYRVVST 1980 FGVIFDPVKQ QFDWNQFRAF ARLDKKSDES LEKYFSCFVA MCRRVCRMPV KPDDEPPDLS 2040 SIIEPITEER ASRTLYRIEL LRKIREQVLH HPQLGERLKL CQPSLDLPEW WECGRHDRDL 2100 LVGAAKHGVS RTDYHILNDP ELSFLDAHKN FAQNRGAGNT SSLNPLAVGF VQTPPVISSA 2160 HIQDERVLEQ AEGKVEEPEN PAAKEKCEGK EEEEETDGSG KESKQECEAE ASSVKNELKG 2220 VEVGADTGSK SISEKGSEED EEEKLEDDDK SEESSQPEAG AVSRGKNFDE ESNASMSTAR 2280 DETRDGFYME DGDPSVAQLL HERTFAFSFW PKDRVMINRL DNICEAVLKG KWPVNRRQMF 2340 DFQGLIPGYT PTTVDSPLQK RSFAELSMVG QASISGSEDI TTSPQLSKED ALNLSVPRQR 2400 RRRRRKIEIE AERAAKRRNL MEMVAQLRES QVVSENGQEK VVDLSKASRE ATSSTSNFSS 2460 LSSKFILPNV STPVSDAFKT QMELLQAGLS RTPTRHLLNG SLVDGEPPMK RRRGRRKNVE 2520 GLDLLFMSHK RTSLSAEDAE VTKAFEEDIE TPPTRNIPSP GQLDPDTRIP VINLEDGTRL 2580 VGEDAPKNKD LVEWLKLHPT YTVDMPSYVP KNADVLFSSF QKPKQKRHRC RNPNKLDINT 2640 LTGEERVPVV NKRNGKKMGG AMAPPMKDLP RWLEENPEFA VAPDWTDIVK QSGFVPESMF 2700 DRLLTGPVVR GEGASRRGRR PKSEIARAAA AAAAVASTSG INPLLVNSLF AGMDLTSLQN 2760 LQNLQSLQLA GLMGFPPGLA TAATAGGDAK NPAAVLPLML PGMAGLPNVF GLGGLLNNPL 2820 SAATGNTTTA SSQGEPEDST SKGEEKGNEN EDENKDSEKS TDAVSAADSA NGSVGAATAP 2880 AGLPSNPLAF NPFLLSTMAP GLFYPSMFLP PGLGGLTLPG FPALAGLQNA VGSSEEKAAD 2940 KAEGGPFKDG ETLEGSDAEE SLDKTAESSL LEDEIAQGEE LDSLDGGDEI ENNENDE 2997 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.