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CHD-8 DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1- targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription. Interacts with p53/TP53, histone H1, CTNNB1, CTCF and PIAS3. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with CHD7. Belongs to the SNF2/RAD54 helicase family. CHD8 subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC; Helicase; Transcription factor
Chromosomal Location of Human Ortholog: 14q11.2
Cellular Component: nucleoplasm; nucleus; protein complex
Molecular Function: ATP binding; beta-catenin binding; chromatin binding; DNA binding; DNA helicase activity; DNA-dependent ATPase activity; histone binding; methylated histone residue binding; p53 binding; protein binding
Biological Process: ATP-dependent chromatin remodeling; brain development; gut development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of Wnt receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase III promoter; positive regulation of transcription, DNA-dependent; Wnt receptor signaling pathway through beta-catenin
Disease: Autism, Susceptibility To, 18
Reference #:  Q9HCK8 (UniProtKB)
Alt. Names/Synonyms: ATP-dependent helicase CHD8; axis duplication inhibitor; beta-catenin binding protein-like; CHD-8; CHD8; chromodomain helicase DNA binding protein 8; Chromodomain-helicase-DNA-binding protein 8; DKFZp686N17164; duplin; Helicase with SNF2 domain 1; HELSNF1; KIAA1564
Gene Symbols: CHD8
Molecular weight: 290,519 Da
Basal Isoelectric point: 6.04  Predict pI for various phosphorylation states
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