InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HDAC8

Summary

InnateDB Protein

IDBP-76715.7

Last Modified

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

Gene Symbol

HDAC8

Protein Name

histone deacetylase 8

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000362691

InnateDB Gene

IDBG-76713 (HDAC8)

Protein Structure

UniProt Annotation

Function

Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin. May play a role in smooth muscle cell contractility. {ECO:0000269PubMed:10748112, ECO:0000269PubMed:10922473, ECO:0000269PubMed:10926844, ECO:0000269PubMed:14701748, ECO:0000269PubMed:22885700}.

Subcellular Localization

Nucleus. Cytoplasm. Note=Excluded from the nucleoli. Found in the cytoplasm of cells showing smooth muscle differentiation.

Disease Associations

Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. {ECO:0000269PubMed:22885700}. Note=The disease is caused by mutations affecting the gene represented in this entry.Wilson-Turner X-linked mental retardation syndrome (WTS) [MIM:309585]: A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males. {ECO:0000269PubMed:22889856}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Weakly expressed in most tissues. Expressed at higher level in heart, brain, kidney and pancreas and also in liver, lung, placenta, prostate and kidney. {ECO:0000269PubMed:10926844, ECO:0000269PubMed:14701748, ECO:0000269PubMed:15772115, ECO:0000269PubMed:16538051}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 96 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	96 [view]
Protein-Protein	35 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	60 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004407	histone deacetylase activity
GO:0008134	transcription factor binding
GO:0032041	NAD-dependent histone deacetylase activity (H3-K14 specific)
GO:0046872	metal ion binding
GO:0046969	NAD-dependent histone deacetylase activity (H3-K9 specific)
GO:0046970	NAD-dependent histone deacetylase activity (H4-K16 specific)
GO:0097372	NAD-dependent histone deacetylase activity (H3-K18 specific)

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0000278	mitotic cell cycle
GO:0006333	chromatin assembly or disassembly
GO:0006351	transcription, DNA-templated
GO:0007062	sister chromatid cohesion
GO:0016568	chromatin modification
GO:0016575	histone deacetylation
GO:0070932	histone H3 deacetylation
GO:0070933	histone H4 deacetylation
GO:0071922	regulation of cohesin localization to chromatin