KEGG   Homo sapiens (human): 55636
Entry
55636             CDS       T01001                                 
Symbol
CHD7, CRG, HH5, IS3, KAL5
Name
(RefSeq) chromodomain helicase DNA binding protein 7
  KO
K14437  chromodomain-helicase-DNA-binding protein 7 [EC:5.6.2.-]
Organism
hsa  Homo sapiens (human)
Disease
H00255  Hypogonadotropic hypogonadism
H00556  CHARGE syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    55636 (CHD7)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   Other chromatin remodeling factors
    55636 (CHD7)
SSDB
Motif
Pfam: SNF2-rel_dom BRK Chromo Helicase_C ResIII DEAD CHDCT2 HDA2-3 Myb_DNA-bind_7 MUN
Other DBs
NCBI-GeneID: 55636
NCBI-ProteinID: NP_060250
OMIM: 608892
HGNC: 20626
Ensembl: ENSG00000171316
UniProt: Q9P2D1 Q6ZWF9
Structure
Position
8:60678740..60868028
AA seq 2997 aa
MADPGMMSLFGEDGNIFSEGLEGLGECGYPENPVNPMGQQMPIDQGFASLQPSLHHPSTN
QNQTKLTHFDHYNQYEQQKMHLMDQPNRMMSNTPGNGLASPHSQYHTPPVPQVPHGGSGG
GQMGVYPGMQNERHGQSFVDSSSMWGPRAVQVPDQIRAPYQQQQPQPQPPQPAPSGPPAQ
GHPQHMQQMGSYMARGDFSMQQHGQPQQRMSQFSQGQEGLNQGNPFIATSGPGHLSHVPQ
QSPSMAPSLRHSVQQFHHHPSTALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRSQTVP
SPTINNSGQYSRYPYSNLNQGLVNNTGMNQNLGLTNNTPMNQSVPRYPNAVGFPSNSGQG
LMHQQPIHPSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGI
PMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQSRPFIGMSSAPRELTGHMRPNGC
PGVGLGDPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHHQSSPPHPHHQPWAQL
HPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQVSGPNAQLVKSDDYLPSIEQQPQQKKKK
KKNNHIVAEDPSKGFGKDDFPGGVDNQELNRNSLDGSQEEKKKKKRSKAKKDPKEPKEPK
EKKEPKEPKTPKAPKIPKEPKEKKAKTATPKPKSSKKSSNKKPDSEASALKKKVNKGKTE
GSENSDLDKTPPPSPPPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGR
DSPSNTSQSEQQESVDAEGPVVEKIMSSRSVKKQKESGEEVEIEEFYVKYKNFSYLHCQW
ASIEDLEKDKRIQQKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEP
VTHYLVKWCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETERVERPPADDWKKSESSR
EYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFL
VIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAI
ITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNT
VEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAP
KEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLING
AEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLD
ILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADT
CIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQ
SMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITI
ESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRK
QTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGR
WTDILSHGRYKRQLTEQDVETICRTILVYCLNHYKGDENIKSFIWDLITPTADGQTRALV
NHSGLSAPVPRGRKGKKVKAQSTQPVVQDADWLASCNPDALFQEDSYKKHLKHHCNKVLL
RVRMLYYLRQEVIGDQADKILEGADSSEADVWIPEPFHAEVPADWWDKEADKSLLIGVFK
HGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPT
RTPFKDEIDEFANSPSEDKEESMEIHATGKHSESNAELGQLYWPNTSTLTTRLRRLITAY
QRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVST
FGVIFDPVKQQFDWNQFRAFARLDKKSDESLEKYFSCFVAMCRRVCRMPVKPDDEPPDLS
SIIEPITEERASRTLYRIELLRKIREQVLHHPQLGERLKLCQPSLDLPEWWECGRHDRDL
LVGAAKHGVSRTDYHILNDPELSFLDAHKNFAQNRGAGNTSSLNPLAVGFVQTPPVISSA
HIQDERVLEQAEGKVEEPENPAAKEKCEGKEEEEETDGSGKESKQECEAEASSVKNELKG
VEVGADTGSKSISEKGSEEDEEEKLEDDDKSEESSQPEAGAVSRGKNFDEESNASMSTAR
DETRDGFYMEDGDPSVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMF
DFQGLIPGYTPTTVDSPLQKRSFAELSMVGQASISGSEDITTSPQLSKEDALNLSVPRQR
RRRRRKIEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSS
LSSKFILPNVSTPVSDAFKTQMELLQAGLSRTPTRHLLNGSLVDGEPPMKRRRGRRKNVE
GLDLLFMSHKRTSLSAEDAEVTKAFEEDIETPPTRNIPSPGQLDPDTRIPVINLEDGTRL
VGEDAPKNKDLVEWLKLHPTYTVDMPSYVPKNADVLFSSFQKPKQKRHRCRNPNKLDINT
LTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMF
DRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQN
LQNLQSLQLAGLMGFPPGLATAATAGGDAKNPAAVLPLMLPGMAGLPNVFGLGGLLNNPL
SAATGNTTTASSQGEPEDSTSKGEEKGNENEDENKDSEKSTDAVSAADSANGSVGAATAP
AGLPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGSSEEKAAD
KAEGGPFKDGETLEGSDAEESLDKTAESSLLEDEIAQGEELDSLDGGDEIENNENDE
NT seq 8994 nt   +upstreamnt  +downstreamnt
atggcagatccaggaatgatgagtctttttggcgaggatgggaatattttcagtgaaggt
cttgaaggcctcggagaatgtggttacccggaaaatccagtaaatcctatgggtcagcaa
atgccaatagaccaaggctttgcctctttacagccatcccttcatcatccttcaactaat
caaaatcaaacaaagctgacacattttgatcactataatcagtatgaacaacaaaagatg
catctgatggatcagccgaacagaatgatgagcaacacccctgggaacggactcgcgtct
ccgcactcgcagtatcacacccctcccgttcctcaggtgccccatggtggcagtggtggc
ggtcagatgggtgtctaccctggcatgcagaatgagaggcatgggcaatcctttgtggac
agcagctccatgtggggccccagggctgttcaggtaccagaccagatacgagccccctac
cagcagcagcagccacagccgcagccaccgcagccggctccgtcggggccccctgcacag
ggccaccctcagcacatgcagcagatgggcagctatatggcacgtggggatttttccatg
cagcagcatggtcagccacagcagaggatgagccagttttcccaaggccaagagggcctc
aatcagggaaatccttttattgccacctcaggacctggccacttgtcccacgtgccccag
cagagtcccagcatggcaccttccttgcgtcactcggtgcagcagttccatcaccacccc
tctactgctctccatggagaatccgttgcccacagtcccagattctccccgaatcctccc
caacaaggggctgttaggccgcaaacccttaactttagttctcggagccagacagtcccc
tctcctactataaacaactcagggcagtattctcgatatccttacagtaacctaaatcag
ggattagttaacaatacagggatgaatcaaaatttaggccttacaaataatactccaatg
aatcagtccgtaccaagataccccaatgctgtaggattcccatcaaacagtggtcaagga
ctaatgcaccagcagcccatccaccccagtggctcacttaaccaaatgaacacacaaact
atgcatccttcacagcctcagggaacttatgcctctccacctcccatgtcacccatgaaa
gcaatgagtaatccagcaggcactcctcctccacaagtcaggccgggaagtgctgggata
ccaatggaagttggcagttatccaaatatgccccatcctcagccatctcaccagccccct
ggtgccatgggaatcggacagaggaatatgggccccagaaacatgcagcagtctcgtcca
tttataggcatgtcctcggcaccaagggaattgactgggcacatgaggccaaatggttgt
cctggtgttggccttggagacccacaagcaatccaggaacgactgatacctggccaacaa
catcctggtcaacagccatcttttcagcagttgccaacctgtcctccactgcagcctcac
ccgggcttgcaccaccagtcttcacctccacaccctcatcaccagccttgggcacagctc
cacccatcaccccagaacaccccgcagaaagtgcctgtgcatcagcattccccgtcggag
ccctttctagagaaaccagtgccggatatgactcaggttagtggaccgaatgctcagcta
gtgaagagtgatgattacctgccatcaatagaacagcagccacaacaaaagaagaagaaa
aagaaaaacaaccacattgtagcagaggatcccagtaaaggttttggtaaagatgacttc
cctggtggggtagataaccaagaactaaataggaactcactggatgggtcccaagaagaa
aaaaagaaaaagaaaaggtcaaaggcaaaaaaagacccgaaggaaccgaaagaacccaag
gagaaaaaagagcccaaggaacccaagaccccgaaagcccctaagattcccaaagagcca
aaggaaaagaaagcaaaaactgccacgccaaaacccaaatccagcaaaaagtcaagtaat
aagaaacctgactcagaagcaagtgctttgaagaaaaaggtcaacaagggaaaaacagaa
ggttctgaaaattcagacttagacaaaacacccccaccatctcctcctcctgaagaagat
gaggacccaggtgttcagaagagacggtccagcagacaggtgaagagaaagcgctacact
gaagacctggagttcaagatttctgatgaggaggcagatgatgcagatgctgctgggagg
gattccccctccaacacctcccagtcagaacagcaggaatctgttgatgcagaaggccca
gtggtagaaaaaattatgagcagtcgttcagtaaaaaagcagaaggaatctggagaggag
gtagaaattgaggaattctatgtgaaatacaaaaacttctcttatcttcattgtcagtgg
gcatctatagaagatctggaaaaagataagagaattcagcaaaaaattaaacgatttaag
gcaaagcagggccagaacaagttcctttcagagattgaggatgagctttttaatccagat
tatgtggaggttgaccggataatggactttgcacgtagcacagatgaccggggagagcct
gtgactcactatctggtgaagtggtgttcacttccttatgaagacagcacgtgggagcgg
aggcaggacatagatcaagcaaagatcgaggagtttgagaaactaatgtccagggagccg
gaaacagagcgtgtggagcgacctcctgctgatgattggaagaaatcggagagttccagg
gagtataaaaacaataacaaactcagggaataccagttggagggagtaaactggctactt
ttcaattggtacaacatgcgaaactgcattttagcagatgaaatgggtttgggaaaaact
atccagtccattacatttctctatgagatatatttgaaaggaatccatggccctttttta
gtaattgccccattgtccacaatccccaactgggaaagggaattccgaacctggacagag
ttgaacgtggttgtgtatcatgggagtcaagctagtcgtcggaccattcagttgtatgaa
atgtacttcaaagatccccagggtcgagtgataaaggggtcctataagtttcatgccatc
atcactacatttgagatgattttgactgattgtcctgagctgcggaatattccatggcgc
tgtgtagtcattgatgaagcccacaggctgaagaacaggaactgcaagctgttggaggga
ctcaagatgatggacttggaacacaaagtgctgctgacgggaaccccactccagaacact
gtggaagaactcttcagcttgcttcatttcttggaaccaagtcgcttcccttcagaaacc
acatttatgcaagaatttggtgatctaaaaacagaagagcaggtgcaaaaacttcaagct
attctaaagccaatgatgttgagacgtctcaaagaggatgtagaaaagaacttggccccc
aaagaagaaactattattgaagttgagctaacaaacattcagaagaaatattaccgagcc
atccttgagaagaatttcacatttctttccaaaggcggtggtcaagctaacgtacctaac
ctattaaacactatgatggaattgcggaagtgctgcaatcatccgtaccttatcaatggt
gctgaagagaaaattttggaagagtttaaagaaacacacaatgcagagtctccagatttt
cagctccaggcaatgatccaggctgctggcaagctagtgctgattgacaagctgctgcca
aaactgaaggctggtggccacagggtgcttatcttttcccagatggtgcgctgcttggac
atactggaagactacctcattcaaagacggtacccatatgaaaggatcgacggccgagta
agaggcaacctccgccaggcagctatcgacagattctccaaacctgattctgataggttt
gttttcctcctgtgtacaagggcaggaggtttaggcattaacctcactgctgctgatacc
tgcatcatctttgattcagactggaatccccaaaatgacctccaggctcaggctagatgt
catagaataggacagagcaaatctgtgaaaatctacaggctgattacaagaaattcctat
gaaagggaaatgttcgacaaggctagtttgaaactgggcctggataaagctgtgctacag
tctatgagtggaagagaaaatgctaccaatggggtacaacagctttccaagaaagaaata
gaggatcttctacgaaaaggggcctatggtgcactcatggatgaggaggatgaagggtct
aaattctgtgaagaagatattgatcagatcctcctacgtcgaacccacaccattaccatt
gagtcagaagggaaaggttccacatttgctaaggccagttttgttgcatctggaaatagg
acagatatttccttggatgatccaaatttctggcaaaagtgggctaagaaggctgaattg
gatattgatgccttaaatgggaggaacaacctggttattgatactccaagagtgagaaag
cagaccaggctctacagtgcagtgaaggaagatgagctgatggagttctcagacttggaa
agtgattctgaagaaaagccctgtgcaaagccacggcgtccccaggataagtcacagggc
tatgcaaggagtgaatgtttcagggtggagaagaatctgcttgtctatggttggggacgg
tggacagacattctttcccacggacgctataaacgccaactcactgagcaagatgtagaa
accatctgcagaaccatcctggtgtactgtcttaatcattacaaaggggatgagaatatc
aaaagcttcatctgggatctgatcacacccacagcggatggccagactcgagccttggtc
aaccattccggtttgtcagctcctgtgccaaggggaaggaagggaaagaaggtgaaagcc
cagagcacacagccggtggtgcaggatgccgactggctggccagctgcaacccagatgcc
ctgttccaggaggacagctacaagaaacacctgaagcatcactgtaacaaggtcctgctg
cgtgtccgcatgctgtactacctaagacaagaagtgataggagaccaggcggataagatc
ttagagggtgctgactcaagtgaagccgatgtgtggatccctgaacctttccatgctgaa
gttcctgcagattggtgggataaggaagcagacaaatccctcttaattggagtgttcaaa
catggctatgagaagtacaactccatgcgagctgaccccgcgctgtgctttctggaacga
gtcggtatgcctgatgccaaggccatagctgccgagcaaagaggaacagacatgctagca
gatggtggtgacgggggagaatttgatagagaagatgaagacccagaatataaaccaacc
agaacaccgttcaaagatgaaatagatgaatttgcaaattctccttcagaggataaggaa
gaatccatggaaatacatgccacaggcaagcacagtgagagtaatgctgagttaggccaa
ctttactggcctaacacttcaaccctgactacacgtctgcgccggctcattactgcctat
cagcgcagctataaaaggcaacagatgaggcaagaggccctaatgaagactgaccggcgc
agacggcggcctcgagaggaagtgagagctctggaagcggaaagggaagctattatatct
gagaagcggcaaaagtggacaagaagagaagaggctgatttttaccgtgtggtatccacc
tttggggttatttttgaccctgtgaaacagcaatttgactggaaccaatttagagccttt
gccaggcttgacaaaaaatctgatgagagtttggagaaatacttcagttgttttgtggcc
atgtgtaggcgagtatgtcgaatgcccgtcaagccagatgatgaaccgcccgacctctcc
tccataattgagccgatcacagaggagcgagcctctcgaactctgtaccgcattgagctg
ctacggaagatccgcgagcaggttctccatcacccccagctgggagagaggcttaagctc
tgccagccaagcttggatctgccagagtggtgggagtgtggacggcatgaccgagacttg
ctggttggtgctgctaaacacggggtcagtcggacggattatcacatcctcaatgaccct
gagttatccttcttggatgcacataaaaactttgctcaaaacagaggggcaggtaataca
tcttccttgaacccactggcagttggatttgtccagactcctccagtcatctcatctgct
catattcaagatgagagggtactggaacaagccgaaggcaaagtggaggagcctgaaaac
ccagctgccaaggagaaatgtgagggcaaagaagaggaagaagaaaccgatggcagcggg
aaggagagcaagcaggaatgtgaggcagaggccagctctgtgaaaaatgaactgaaaggt
gttgaggtcggcgcagacactgggtccaaatctatttcagagaaaggttccgaagaggat
gaagaggaaaagctggaggatgacgataagtcggaagagtcttcccagcccgaagcagga
gctgtctctagagggaagaattttgatgaagaaagcaatgcttccatgagcactgctaga
gatgaaacccgagatggattctacatggaggacggagatccttcagtagctcagctcctt
catgaaagaacatttgccttctcgttttggcctaaggatagagtaatgataaaccgctta
gacaacatctgtgaagcagtgttgaaaggcaaatggccagtaaataggcgccagatgttt
gatttccaaggcctcatcccaggttacacacccaccacagtggacagccccttgcagaag
aggagctttgctgagctctccatggtcggccaagccagcattagtgggagtgaggacatc
actacgtctcctcagttgtcaaaggaagatgccctcaacctctctgtccctcgccagcgg
aggaggaggaggagaaaaatcgaaattgaggccgaaagagctgccaagaggcgaaatctc
atggagatggttgcccagcttcgagagtctcaggtggtctcagaaaatggacaagaaaaa
gttgtagatttatcaaaggcctcaagagaggcaacaagctctacctcaaatttttcatct
ctttcttcaaagtttatcttgcctaatgtctcaacaccagtgtctgatgcctttaagact
caaatggaactgctccaagcaggcctttcgcgcacacccacaaggcatctccttaatggc
tccctagtggatggagagcctcccatgaagaggaggcggggaaggaggaaaaatgtggag
ggacttgatctgcttttcatgagccacaaacggacgtcattgagtgcagaggatgctgag
gtgaccaaagcttttgaagaagatatagagaccccaccaacaagaaacattccttctccc
ggacagctggacccagacacacggatccctgttatcaatcttgaagatgggactaggctg
gtgggggaagatgctcctaaaaataaggatttagttgaatggctgaagctgcaccctact
tacactgttgatatgccaagttatgtaccaaagaatgcagatgtgctgttttcctcattt
cagaaaccgaaacagaaacgacatagatgtcgaaaccctaataaattggatataaacact
ttgacaggagaagaaagggtgcctgttgtcaataaacgaaatgggaagaagatgggtgga
gctatggcgcctccaatgaaggatctacccaggtggctggaagaaaatcctgaatttgca
gttgctccagactggactgatatagttaagcagtctggttttgttcctgagtcgatgttt
gaccgccttctcactgggcctgtagtgcggggagagggagcgagcagaagaggaagaagg
cccaaaagtgagatcgccagagcagccgcggccgccgctgctgtggcctccacgtcaggg
atcaaccctttgctggtgaacagcctgtttgctggaatggacctgacgagccttcagaat
ctccagaatctccagtcgctccagctggcaggcctcatgggcttccctccaggactggca
acagctgccaccgccggaggcgatgcgaagaaccctgctgctgtgctgcccctgatgctg
ccaggaatggcgggcctgcccaacgtgtttggcttgggcgggctgttgaataaccctctg
tcagctgctactggaaacaccactactgcttctagtcaaggagaaccggaagacagcact
tcaaaaggagaggagaaaggaaatgagaatgaagacgagaacaaagactctgagaaaagc
acagatgctgtttcggctgctgactctgcgaatggatctgttggtgctgctactgccccg
gctggattgccctcaaacccgctagccttcaaccctttcctcctgtccacaatggccccg
ggcctcttctacccatccatgtttctacctccaggactggggggattgacgctgcctggg
ttcccagcattggcaggacttcagaatgccgtgggctccagcgaagaaaaggctgctgac
aaggctgagggaggaccctttaaagatggagagacccttgaaggcagcgatgccgaggag
agcctggataagactgcagagtcctccctcttagaagacgaaatagcacagggtgaagag
ctagactcacttgatgggggggatgaaatagaaaacaatgaaaatgatgaataa

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Ontology (2)   
   KEGG BRITE (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (46)   
   KEGG ORTHOLOGY (1)   
   RefGene (33)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
Protein sequence (23)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (20)   
DNA sequence (61)   
   RefSeq(nuc) (21)   
   GenBank (20)   
   EMBL (20)   
3D Structure (3)   
   PDB (3)   
Protein domain (10)   
   Pfam (10)   
All databases (151)   

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