CHD8 chromodomain helicase DNA binding protein 8 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: CHD8provided by HGNC
Official Full Name: chromodomain helicase DNA binding protein 8provided by HGNC
Primary source: HGNC:20153
See related: Ensembl:ENSG00000100888; HPRD:16712; MIM:610528; Vega:OTTHUMG00000170759
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HELSNF1; KIAA1564; DKFZp686N17164
Summary: This gene encodes a DNA helicase that functions as a transcription repressor by remodeling chromatin structure. It binds beta-catenin and negatively regulates Wnt signaling pathway, which plays a pivotal role in vertebrate early development and morphogenesis. Mice lacking this gene exhibit early embryonic death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

Help top of page

Genomic context

Location :: 14q11.2

Sequence :: Chromosome: 14; NC_000014.8 (21853353..21905457, complement)

See CHD8 in Epigenomics, MapViewer

Chromosome 14 - NC_000014.8 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

CHD8 promotes the association of beta-catenin and histone H1, with formation of the trimeric complex on chromatin being required for inhibition of beta-catenin-dependent transactivation.
Title: Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway.
Disruption of the direct CHD7-CHD8 interaction might chang the conformation of a putative large complex and could be a disease mechanism in CHARGE syndrome.
Title: CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
The recruitment of AR to the TMPRSS2 promoter in response to androgen treatment requires CHD8.
Title: Regulation of androgen-responsive transcription by the chromatin remodeling factor CHD8.
This study provides evidence of a novel interaction between BRCA1 and beta-catenin, and that loss of BRCA1 leads to impaired expression of the nuclear form of beta-catenin, which may contribute to the pathogenesis of breast cancer.
Title: Wild-type BRCA1, but not mutated BRCA1, regulates the expression of the nuclear form of beta-catenin.
Results show that Depletion of CHD8 enhances HOXA2 expression and a loss of the WDR5/Ash2L/RbBP5 subcomplex.
Title: Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8.
CHD8 interacts with elongating RNA polymerase II and controls expression of CCNE2 and TYMS genes.
Title: The chromatin remodeling factor CHD8 interacts with elongating RNA polymerase II and controls expression of the cyclin E2 gene.
CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes
Title: CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.
Staf activates U6 transcription from a preassembled chromatin template in vitro and associates with several proteins linked to chromatin modification, among them chromodomain-helicase-DNA binding protein 8 (CHD8).
Title: CHD8 associates with human Staf and contributes to efficient U6 RNA polymerase III transcription.

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
Q9HCK8	P35222	CTNNB1	HPRD	PubMed
Q9HCK8	O95985	TOP3B	HPRD	PubMed
BioGRID:121709	BioGRID:106862	AR	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:121709	BioGRID:114528	ASH2L	BioGRID	PubMed	Co-localization; Reconstituted Complex
BioGRID:121709	BioGRID:107296	CASR	BioGRID	PubMed	Affinity Capture-Western
BioGRID:121709	BioGRID:107775	CREB1	BioGRID	PubMed	Two-hybrid
BioGRID:121709	BioGRID:115906	CTCF	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:121709	BioGRID:114597	CTDP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:121709	BioGRID:107880	CTNNB1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:121709	BioGRID:111864	RBBP5	BioGRID	PubMed	Reconstituted Complex
BioGRID:121709	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:121709	BioGRID:116120	TCERG1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:121709	BioGRID:112872	TERF1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:121709	BioGRID:112873	TERF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:121709	BioGRID:114452	TOP3B	BioGRID	PubMed	Two-hybrid
BioGRID:121709	BioGRID:113010	TP53	BioGRID	PubMed	Affinity Capture-Western
BioGRID:121709	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:121709	BioGRID:113237	USF1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:121709	BioGRID:116272	WDR5	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:121709	BioGRID:113496	ZNF143	BioGRID	PubMed	Affinity Capture-Western
BioGRID:121709	BioGRID:1205541	tat	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
ATP binding	IDA Inferred from Direct Assay more info	PubMed
DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
DNA helicase activity	IMP Inferred from Mutant Phenotype more info	PubMed
DNA-dependent ATPase activity	IDA Inferred from Direct Assay more info	PubMed
armadillo repeat domain binding	IEA Inferred from Electronic Annotation more info
beta-catenin binding	IDA Inferred from Direct Assay more info	PubMed
histone binding	ISS Inferred from Sequence or Structural Similarity more info
hydrolase activity, acting on acid anhydrides	IEA Inferred from Electronic Annotation more info
methylated histone residue binding	IDA Inferred from Direct Assay more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info
p53 binding	ISS Inferred from Sequence or Structural Similarity more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
ATP-dependent chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
DNA duplex unwinding	IMP Inferred from Mutant Phenotype more info	PubMed
canonical Wnt receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
chromatin modification	IEA Inferred from Electronic Annotation more info
in utero embryonic development	IEA Inferred from Electronic Annotation more info
negative regulation of Wnt receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
negative regulation of transcription, DNA-dependent	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription from RNA polymerase III promoter	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
MLL1 complex	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
protein complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: chromodomain-helicase-DNA-binding protein 8

Names: chromodomain-helicase-DNA-binding protein 8; duplin; axis duplication inhibitor; ATP-dependent helicase CHD8; helicase with SNF2 domain 1

NP_001164100.1

EC 3.6.4.12

NP_065971.2

EC 3.6.4.12

Help top of page

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021249.1 RefSeqGene

Range

5001..57105

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001170629.1 → NP_001164100.1 chromodomain-helicase-DNA-binding protein 8 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB046784, AL161747, AW327785, DA327823, DB344386

Consensus CDS

CCDS53885.1

UniProtKB/Swiss-Prot

Q9HCK8

Related

ENSP00000382863, ENST00000399982

Conserved Domains (5) summary

cd00024
Location:644 – 704
Blast Score: 114

CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...

cd00046
Location:830 – 979
Blast Score: 203

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

cd00079
Location:1128 – 1255
Blast Score: 246

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

pfam00176
Location:814 – 1101
Blast Score: 749

SNF2_N; SNF2 family N-terminal domain

cl02688
Location:2308 – 2352
Blast Score: 171

BRK; BRK domain
NM_020920.3 → NP_065971.2 chromodomain-helicase-DNA-binding protein 8 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR and has a distinct 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AB046784, AK122910, AL834524, AW327785, BC036920, CN290520

Consensus CDS

CCDS45081.1

UniProtKB/TrEMBL

H7BXG5

UniProtKB/Swiss-Prot

Q9HCK8

Related

ENSP00000406288, OTTHUMP00000244355, ENST00000430710, OTTHUMT00000410276

Conserved Domains (5) summary

cd00024
Location:365 – 425
Blast Score: 110

CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...

cd00046
Location:551 – 700
Blast Score: 203

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

cd00079
Location:849 – 976
Blast Score: 244

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

pfam00176
Location:535 – 822
Blast Score: 742

SNF2_N; SNF2 family N-terminal domain

cl02688
Location:2029 – 2073
Blast Score: 170

BRK; BRK domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p5 Primary Assembly

Range

21853353..21905457, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

1973207..2025186, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL135744.4 (186409..193767)	None
genomic	AL161747.5 (29142..47944)	None
genomic	CH471078.2	EAW66385.1
mRNA	AB046784.3	BAB13390.3
mRNA	AK056639.1	None
mRNA	AK098408.1	None
mRNA	AK122868.1	None
mRNA	AK122910.1	None
mRNA	AK131077.1	BAC85127.1
mRNA	AL834524.1	CAD39180.1
mRNA	AW327785.1	None
mRNA	BC011695.2	AAH11695.2
mRNA	BC025964.1	AAH25964.1
mRNA	BC036920.1	AAH36920.1
mRNA	BC063693.1	AAH63693.1
mRNA	BC073903.1	AAH73903.1
mRNA	BC098452.1	AAH98452.1
mRNA	CN290520.1	None
mRNA	CR749315.1	CAH18170.1
mRNA	DA327823.1	None
mRNA	DB344386.1	None
mRNA	U00930.1	None
other-genetic	BC156439.1	AAI56440.1