Gene: Chd7

Basic information

Tag Content
Uniprot ID A2AJK6; Q3TA86; Q3TAG7; Q3TBU4; Q8C986; Q8K244;
Entrez ID 320790
Genbank protein ID BAE42701.1; BAC31343.1; BAE42783.1; AAH34239.2; BAE42213.1;
Genbank nucleotide ID XM_006538004.3; NM_001277149.1;
Ensembl protein ID ENSMUSP00000043903; ENSMUSP00000059079;
Ensembl nucleotide ID ENSMUSG00000041235
Gene name Chromodomain-helicase-DNA-binding protein 7
Gene symbol Chd7
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 16207732
Functional description Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production (By similarity).
Sequence
MADPGMMSLF GEDGSLFSEG LEGLGECGYP ENPVNPMGQQ MPIDQGFPSL QPSLHHPSPN 60
QNQTKLTHFD HYSQYEQKMH LMDQPNRMMG SAPGNGLASP HSQYHTPPVP QVPHGGGGGG 120
QMGVYPGIQN ERHGQSFVDG GSMWGPRAVQ VPDQIRAPYQ QQQPQPAPSG PPAQGHPQHM 180
QQMGSYLARG DFSMQQHGQP QQRMGQFSQG QEGLSQGSPF IATSGPGHLS HMPQQSPSMA 240
PSLRHPVQQQ FHHHPAALHG ESVAHSPRFS PNPPQQGAVR PQTLNFSSRN QTVPSPTVNN 300
SGQYSRYPYS NLNQGLVNST GMNQNLGLTN STPMNQSVPR YPNAVGFPSN SGQGLVHQQP 360
IHSSGSLNQM NTQTMHPSQP QGTYASPPPM SPMKAMSNPA GTPPPQVRPG SAGMPMEVGS 420
YPNMPHPQPS HQPPGAMGIG QRNMGPRNMQ QPRSFMGMSS APRELTGHMR PNGCPGVGLA 480
DPQAIQERLI PGQQHPGQQP SFQQLPTCPP LQPHPGLHQS SPPHPHHQPW AQLHPSPQNT 540
PQKVPVHQHS PSEPFLEKPV PDMTQVSAQN AQLVKSDDYL PSIEQQPQQK KKKKKNNHIA 600
AGDSSKGFGK DDFPGGVENQ ELRRNSLDVS QEEKKKKKRP KVKKDPKESK EPKEKKEPKT 660
PKAPKIPKEP KEKKAKTVTP KPKSSKKSSN KKPDSEASAL KKKVNKGKTE GSENSDLDKT 720
PPPSPAPEED EDPGVQKRRS SRQVKRKRYT EDLEFKISDE EADDADAAGR DSPSNTSQSE 780
QQESVDAEGP VVEKIMSSRL VKKQKESGEE VEVEEFYVKY KNFSYLHCQW ASVEDLEKDK 840
RIQQKIKRFK SKQGQSKFLS EIEDDLFNPD YVEVDRIMDF ARSTDDRGEP VIHYLVKWCS 900
LPYEDSTWEL KQDIDQTKIE EFEKLMSREP ETERVERPPA DDWKKSESSR EYKNNNKLRE 960
YQLEGVNWLL FNWYNMRNCI LADEMGLGKT IQSITFLYEI YLKGIHGPFL VIAPLSTIPN 1020
WEREFRTWTE LNVVVYHGSQ ASRRTIQLYE MYFKDPQGRV IKGSYKFHAI ITTFEMILTD 1080
CPELRNIPWR CVVIDEAHRL KNRNCKLLEG LKMMDLEHKV LLTGTPLQNT VEELFSLLHF 1140
LEPSRFPSET TFMQEFGDLK TEEQVQKLQA ILKPMMLRRL KEDVEKNLAP KEETIIEVEL 1200
TNIQKKYYRA ILEKNFTFLS KGGGQANVPN LLNTMMELRK CCNHPYLING AEEKILEEFK 1260
ETHNAESPDF QLQAMIQAAG KLVLIDKLLP KLKAGGHRVL IFSQMVRCLD ILEDYLIQRR 1320
YPYERIDGRV RGNLRQAAID RFSKPDSDRF VFLLCTRAGG LGINLTAADT CIIFDSDWNP 1380
QNDLQAQARC HRIGQSKSVK IYRLITRNSY EREMFDKASL KLGLDKAVLQ SMSGRENATN 1440
GVQQLSKKEI EDLLRKGAYG ALMDEEDEGS KFCEEDIDQI LLRRTHTITI ESEGKGSTFA 1500
KASFVASGNR TDISLDDPNF WQKWAKKAEL DIDALNGRNN LVIDTPRVRK QTRLYSAVKE 1560
DELMEFSDLE SDSEEKPCAK PRRPQDKSQG YARSECFRVE KNLLVYGWGR WTDILSHGRY 1620
KRQLTEQDVE TICRAILVYC LNHYRGDENI KSFIWDLITP TADGQTRALL NHSGLSAPVP 1680
RGRKGKKVKA QSTQPVVHDA HWLASCNPDA LFQEDSYKKH LKHHCNKVLL RVRMLYYLRQ 1740
EVIGDQAEKI LEGADSSEAD VWIPEPFHAE VPTDWWDREA DKSLLIGVFK HGYEKYNSMR 1800
ADPALCFLER VGMPDAKAIA AEQRGTDMLA DGGDGGEFDR EDEDPEYKPT RAPFKDEIDE 1860
FANSPAEDKE ESMEVHSSGK HSESNAELGQ LYWPNTSTLT TRLRRLITAY QRSYKRQQMR 1920
QEALMKTDRR RRRPREEVRA LEAEREAIIS EKRQKWTRRE EADFYRVVST FGVIFDPVKQ 1980
QFDWNQFRAF ARLDKKSDES LGKYFSCFVA MCRRVCRMPA KPEDEPPDLA SLIEPITEER 2040
ASRTLYRIEL LRKIREQVLH HPQLSDRLKL CQPSLDLPEW WECGRHDRDL LVGAAKHGVS 2100
RTDYHILNDP ELSFLDAHKS FAQNRGASTV PPLNTLAMGF GQTPPVISSA HVHEEKAMEQ 2160
AEGKAEECEH SPAKERSDGK EEEEEAGGAK DGKQECEVEA SSVKGELKGV EGSADPGSKS 2220
VSEKGSEEDE EEKLEDDDKS EESSQPEAGA VSRGKTFDEE SNASLSTARD ETRDGFYMED 2280
GDASVAQLLH ERTFAFSFWP KDRVMINRLD NICEAVLKGK WPVNRRQMFD FQGLVPGYPP 2340
SAVDSPLQKR SFAELSMVSQ ASISASEDIT TSPQLSKDDA LNLSVPRQRR RRRRKVEIEA 2400
ERAAKRRNLM EMVAQLRESQ VVSENGQEKV VDLSKASREA TSSTSNFSSL TSKFILPNVS 2460
TPVSDAFKSQ MELLQAGLSR TPTRHMLNGS LVDGEPPMKR RRGRRKNVEG LDLLFMSHKR 2520
TPLSAEDAEV TKAFEEDIET PPIRNIPSPG QLDPDTRIPV INLEDGTRLV GEDAPKNKDL 2580
VDWLKLHPTY TVDMPSYVPK NTDVLFSSFQ KPKQKRHRCR NPNKLDINTL TGEERVPVVN 2640
KRNGKKMGGA MAPPMKDLPR WLEENPEFAV APDWTDIVKQ SGFVPESMFD RLLTGPVVRG 2700
EGASRRGRRP KSEIARAAAA AAAVASTSGI NPLLVNSLFA GMDLTSLQNL QNLQSLQLAG 2760
LMGFPPGLAT AATAGGDAKS PAAVLPLMLP GMAGLPNVFG LGGLLNNPLS AATGNTTTAS 2820
SQGEPEDGTS KAEEKGNDNE DENRDSEKST DTVSAADSAN GSVGAATAPA ALPSNPLAFN 2880
PFLLSTMAPG LFYPSMFLPP GLGGLTLPGF PALAGLQNAV GTSEEKAADK AEGGPCKDGE 2940
TLEGSDAEEN LDKTVESSIL EDEVAQGEEL DSLEGGDEIE NTGNDE 2986

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
CHD7c.7165-4A>G (heterozygous)Exome sequencing and Sanger sequencing31060112

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingIDA
GO:0003678 DNA helicase activityIEA
GO:0005515 protein bindingIPI
GO:0005524 ATP bindingIEA
GO:1990841 promoter-specific chromatin bindingIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0001501 skeletal system developmentISO
GO:0001568 blood vessel developmentIMP
GO:0001701 in utero embryonic developmentISO
GO:0001701 in utero embryonic developmentIMP
GO:0001974 blood vessel remodelingIMP
GO:0003007 heart morphogenesisISO
GO:0003007 heart morphogenesisIMP
GO:0003222 ventricular trabecula myocardium morphogenesisIMP
GO:0003226 right ventricular compact myocardium morphogenesisIMP
GO:0006338 chromatin remodelingIMP
GO:0006364 rRNA processingIEA
GO:0007417 central nervous system developmentISO
GO:0007512 adult heart developmentIMP
GO:0007605 sensory perception of soundIMP
GO:0007626 locomotory behaviorIMP
GO:0007628 adult walking behaviorIMP
GO:0008015 blood circulationIMP
GO:0009617 response to bacteriumIEP
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumIMP
GO:0021545 cranial nerve developmentISO
GO:0021553 olfactory nerve developmentIMP
GO:0021772 olfactory bulb developmentIMP
GO:0030217 T cell differentiationISO
GO:0030540 female genitalia developmentIMP
GO:0032508 DNA duplex unwindingIEA
GO:0035116 embryonic hindlimb morphogenesisIMP
GO:0035904 aorta developmentIMP
GO:0035909 aorta morphogenesisIMP
GO:0036302 atrioventricular canal developmentIMP
GO:0040018 positive regulation of multicellular organism growthIMP
GO:0042048 olfactory behaviorIMP
GO:0042471 ear morphogenesisIMP
GO:0042472 inner ear morphogenesisISO
GO:0042472 inner ear morphogenesisIMP
GO:0043010 camera-type eye developmentIMP
GO:0043584 nose developmentISO
GO:0043584 nose developmentIMP
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0048752 semicircular canal morphogenesisIGI
GO:0048771 tissue remodelingIMP
GO:0048806 genitalia developmentISO
GO:0048844 artery morphogenesisIGI
GO:0050767 regulation of neurogenesisIMP
GO:0050890 cognitionISO
GO:0060021 roof of mouth developmentIMP
GO:0060041 retina development in camera-type eyeISO
GO:0060123 regulation of growth hormone secretionISO
GO:0060173 limb developmentISO
GO:0060324 face developmentISO
GO:0060384 innervationIMP
GO:0060411 cardiac septum morphogenesisIMP
GO:0060429 epithelium developmentIMP
GO:0062009 secondary palate developmentISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISS
GO:0005634 nucleusISO
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmISO
GO:0005730 nucleolusISO

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0067 ATP-binding
KW-0156 Chromatin regulator
KW-0175 Coiled coil
KW-0238 DNA-binding
KW-0347 Helicase
KW-0378 Hydrolase
KW-0488 Methylation
KW-0547 Nucleotide-binding
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0677 Repeat
KW-0698 rRNA processing
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR006576 BRK_domain
IPR037259 BRK_sf
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR023780 Chromo_domain
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N

PROSITE

PROSITE ID PROSITE Term
PS50013 CHROMO_2
PS51192 HELICASE_ATP_BIND_1
PS51194 HELICASE_CTER

Pfam

Pfam ID Pfam Term
PF07533 BRK
PF00385 Chromo
PF00271 Helicase_C
PF00176 SNF2_N

Protein-protein interaction

Protein-miRNA interaction