Entity Details

Primary name CHD8_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9HCK8
EntryNameCHD8_HUMAN
FullNameChromodomain-helicase-DNA-binding protein 8
TaxID9606
Evidenceevidence at protein level
Length2581
SequenceStatuscomplete
DateCreated2002-09-19
DateModified2021-06-02

Ontological Relatives

GenesCHD8

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0001701 in utero embryonic development
GO:0002039 p53 binding
GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0003682 chromatin binding
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0007420 brain development
GO:0008013 beta-catenin binding
GO:0008094 ATPase, acting on DNA
GO:0016055 Wnt signaling pathway
GO:0032991 protein-containing complex
GO:0035064 methylated histone binding
GO:0035176 social behavior
GO:0042393 histone binding
GO:0043044 ATP-dependent chromatin remodeling
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0045945 positive regulation of transcription by RNA polymerase III
GO:0048565 digestive tract development
GO:0060134 prepulse inhibition
GO:0070016 armadillo repeat domain binding
GO:0070615 nucleosome-dependent ATPase activity
GO:0071339 MLL1 complex
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:2000270 negative regulation of fibroblast apoptotic process

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000330 SNF2, N-terminalDomainDomain
IPR000953 Chromo/chromo shadow domainDomainDomain
IPR001650 Helicase, C-terminalDomainDomain
IPR006576 BRK domainDomainDomain
IPR014001 Helicase superfamily 1/2, ATP-binding domainDomainDomain
IPR016197 Chromo-like domain superfamilyFamilyHomologous superfamily
IPR023780 Chromo domainDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR034724 Chromodomain-helicase-DNA-binding protein 8FamilyFamily
IPR037259 BRK domain superfamilyFamilyHomologous superfamily
IPR038718 SNF2-like, N-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615032 OMIMAutism 18 (AUTS18)A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Disease susceptibility is associated with variants affecting the gene represented in this entry.