HAMAP rule MF_03071

General rule information [?]

Accession	MF_03071
Dates	5-MAR-2009 (Created) 27-JUN-2022 (Last updated, Version 10)

Name

CHD8

Scope

Eukaryota; Vertebrata

Templates

Q9HCK8 (CHD8_HUMAN); Q09XV5 (CHD8_MOUSE); Q9JIX5 (CHD8_RAT): [Recover all]

Triggered by

HAMAP; MF_03071 (Get profile general information and statistics)

Propagated annotation [?]

Identifier, protein and gene names [?]

Identifier

CHD8

Protein name

RecName:		Full=Chromodomain-helicase-DNA-binding protein 8;
		Short=CHD-8;
		EC 3.6.4.12;
AltName:		Full=ATP-dependent helicase CHD8;

Gene name

CHD8

Comments [?]

case <OC:Mammalia>

Function	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.
Catalytic activity	RHEA:13065: ATP + H2O = ADP + H(+) + phosphate EC 3.6.4.12
Subunit	Interacts with p53/TP53, histone H1, CTNNB1, CTCF and PIAS3. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, 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. Interacts with FAM124B.
Subcellular location	Nucleus. Note=Localizes to the promoter regions of several CTNNB1-responsive genes. Also present at known CTCF target sites.
Ptm	Sumoylated.

else

Function	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/@gn(TP53)-mediated apoptosis by recruiting histone H1 and preventing p53/@gn(TP53) transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (@gn(CTNNB1)) activity. Negatively regulates @gn(CTNNB1)-targeted gene expression by being recruited specifically to the promoter regions of several @gn(CTNNB1) responsive genes. May also act as a transcription activator by participating in efficient U6 RNA polymerase III transcription.
Catalytic activity	RHEA:13065: ATP + H2O = ADP + H(+) + phosphate EC 3.6.4.12
Subunit	Component of some MLL1/MLL complex.
Subcellular location	Nucleus.

end case

Similarity

Belongs to the SNF2/RAD54 helicase family. CHD8 subfamily.

Keywords [?]

Activator
ATP-binding
Chromatin regulator
DNA-binding
Helicase
Hydrolase
Nucleotide-binding
Nucleus
Repeat
Repressor
Transcription
Transcription regulation
Wnt signaling pathway

case <FTTag:sumo>

Isopeptide bond
Ubl conjugation

end case

Gene Ontology [?]

GO:0005634; Cellular component: nucleus.
GO:0071339; Cellular component: MLL1 complex.
GO:0005524; Molecular function: ATP binding.
GO:0003677; Molecular function: DNA binding.
GO:0003678; Molecular function: DNA helicase activity.
GO:0008094; Molecular function: ATP-dependent activity, acting on DNA.
GO:0002039; Molecular function: p53 binding.
GO:0042393; Molecular function: histone binding.
GO:0008013; Molecular function: beta-catenin binding.
GO:0006338; Biological process: chromatin remodeling.
GO:0045893; Biological process: positive regulation of DNA-templated transcription.
GO:0045892; Biological process: negative regulation of DNA-templated transcription.
GO:0030178; Biological process: negative regulation of Wnt signaling pathway.
GO:0043066; Biological process: negative regulation of apoptotic process.

Cross-references [?]

PROSITE	PS00598; CHROMO_1; 2;
	PS50013; CHROMO_2; 2;
	PS00690; DEAH_ATP_HELICASE; 1;
	PS51192; HELICASE_ATP_BIND_1; 1; trigger=PRU00541;
	PS51194; HELICASE_CTER; 1; trigger=PRU00542;
	PS50312; ASP_RICH; 0-unlimited;
	PS50322; GLN_RICH; 0-unlimited;
	PS50324; SER_RICH; 0-unlimited;
	PS50316; HIS_RICH; 0-unlimited;
Pfam	PF07533; BRK; 1;
	PF00385; Chromo; 2;
	PF00271; Helicase_C; 1;
	PF00176; SNF2_N; 1;

Features [?]

case <OC:Mammalia>

From: CHD8_HUMAN (Q9HCK8)

Key From To Description Tag Condition FTGroup

REGION 1789 2302 Interaction with FAM124B

end case

case <OC:Mammalia>

From: CHD8_RAT (Q9JIX5)

CROSSLNK 609 609 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) sumo K

end case

Additional information [?]

Size range	2184-2594 amino acids
Related rules	None
Fusion	None

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