chromodomain-helicase-DNA-binding protein 8; CHD-8; ATP-dependent helicase CHD8; helicase with SNF2 domain 1 (CHD8 HELSNF1 KIAA1564)

Function: - DNA helicase - acts as a chromatin remodeling factor - regulates transcription - acts as a transcription repressor by remodeling chromatin structure & recruiting histone H1 to target genes - suppresses p53/TP53-mediated apoptosis by recruiting histone H1 & 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 - role in both enhancer blocking & epigenetic remodeling via its interaction with CTCF - acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity - acts as a transcription activator via its interaction with ZNF143 by participating to efficient U6 RNA polymerase 3 transcription - sumoylated (putative) - interacts with p53/TP53, histone H1, CTNNB1, CTCF & PIAS3 - component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 & RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, IN80C, KIAA1267, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 & TEX10 ATP + H₂O = ADP + phosphate Structure: - belongs to the SNF2/RAD54 helicase family, CHD8 subfamily - contains 2 chromo domains - contains 1 helicase ATP-binding domain - contains 1 helicase C-terminal domain Compartment: - nucleus - localizes to the promoter regions of several CTNNB1- responsive genes - also present at known CTCF target sites Alternative splicing: named isoforms=2 Genetics: - the gene is located in the 14q11.2 region of the genome which is associated with developmental delay, cognitive impairment & similar minor anomalies in some children, suggesting that it may be a good candidate for the phenotype

Properties

SIZE: entity length = 2581 aa MW = 291 kD COMPARTMENT: cell nucleus MOTIF: glutamine-rich region {292-410} MOTIF: glutamine residue (SEVERAL) Thr phosphorylation site {T537} Ser phosphorylation site {S550} Ser phosphorylation site {S553} Ser phosphorylation site {S562} chromodomain NAME: chromodomain SITE: 642-709 FOR-BINDING-OF: heterochromatin chromodomain NAME: chromodomain SITE: 724-790 FOR-BINDING-OF: heterochromatin helicase NAME: helicase SITE: 823-997 MOTIF: ATP-binding site NAME: ATP-binding site SITE: 836-843 DEAD/H box NAME: DEAD/H box SITE: 948-951 Helicase C-terminal {1137-1288} Thr phosphorylation site {T1398} Ser phosphorylation site {S1420} Ser phosphorylation site {S1424} Ser phosphorylation site {S1976} Thr phosphorylation site {T1993} Ser phosphorylation site {S1995} Ser phosphorylation site {S2008} Ser phosphorylation site {S2046} serine-rich region {2069-2098} MOTIF: serine residue (SEVERAL) Ser phosphorylation site {S2069} Ser phosphorylation site {S2071} Ser phosphorylation site {S2182} Ser phosphorylation site {S2200} Ser phosphorylation site {S2202} Ser phosphorylation site {S2211} histidine-rich region {2493-2508} MOTIF: histidine residue (SEVERAL) Ser phosphorylation site {S2518} Ser phosphorylation site {S2519}

Database Correlations

OMIM 610528 UniProt Q9HCK8 PFAM correlations Entrez Gene 57680 Kegg hsa:57680 ENZYME 3.6.4.12

References

UniProt :accession Q9HCK8