InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CHD8

Summary

InnateDB Protein

IDBP-599367.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CHD8

Protein Name

chromodomain helicase DNA binding protein 8

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000451601

InnateDB Gene

IDBG-2645 (CHD8)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:17938208, ECO:0000269PubMed:18378692}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:18378692, ECO:0000269PubMed:20453063}. Note=Localizes to the promoter regions of several CTNNB1-responsive genes. Also present at known CTCF target sites.

Disease Associations

Autism 18 (AUTS18) [MIM:615032]: 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. {ECO:0000269PubMed:23160955}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	39 [view]
Protein-Protein	36 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002039	p53 binding
GO:0003676	nucleic acid binding
GO:0003677	DNA binding
GO:0003678	DNA helicase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008013	beta-catenin binding
GO:0008094	DNA-dependent ATPase activity
GO:0016787	hydrolase activity
GO:0016817	hydrolase activity, acting on acid anhydrides
GO:0035064	methylated histone binding
GO:0042393	histone binding

Biological Process

GO:0006200	ATP catabolic process
GO:0006351	transcription, DNA-templated
GO:0030178	negative regulation of Wnt signaling pathway
GO:0032508	DNA duplex unwinding
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 from RNA polymerase II promoter
GO:0045945	positive regulation of transcription from RNA polymerase III promoter
GO:0060070	canonical Wnt signaling pathway

Cellular Component

GO:0005634	nucleus
GO:0043234	protein complex
GO:0071339	MLL1 complex

Protein Structure and Domains

PDB ID

InterPro

IPR000330 SNF2-related
IPR000953 Chromo domain/shadow
IPR001650 Helicase, C-terminal
IPR006576 BRK domain
IPR006935 Helicase/UvrB domain
IPR011545 DEAD/DEAH box helicase domain
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR016197 Chromo domain-like
IPR023780 Chromo domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00176
PF00271
PF07533
PF04851
PF00270
PF00385

PRINTS

PIRSF

SMART

SM00298
SM00490
SM00592
SM00487

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9HCK8