HDAC8

Histone deacetylase 8 is an enzyme that in humans is encoded by the HDAC8 gene.^[5][6][7]

HDAC8
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1T64, 1T67, 1T69, 1VKG, 1W22, 2V5W, 2V5X, 3EW8, 3EWF, 3EZP, 3EZT, 3F06, 3F07, 3F0R, 3MZ3, 3MZ4, 3MZ6, 3MZ7, 3RQD, 3SFF, 3SFH, 4QA0, 4QA1, 4QA2, 4QA3, 4QA4, 4QA5, 4QA6, 4QA7, 4RN0, 4RN1, 4RN2, 5DC7, 5D1D, 5D1C, 5DC8, 5D1B, 5DC5, 5DC6, 5BWZ
Identifiers
Aliases	HDAC8, CDLS5, HD8, HDACL1, MRXS6, RPD3, WTS, CDA07, histone deacetylase 8, KDAC8
External IDs	OMIM: 300269; MGI: 1917565; HomoloGene: 41274; GeneCards: HDAC8; OMA:HDAC8 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq13.1 Start 72,329,516 bp[1] End 72,573,101 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X D Start 101,328,245 bp[2] End 101,548,965 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in epithelium of colon left adrenal gland left adrenal cortex right adrenal gland tendon of biceps brachii right adrenal cortex gonad Achilles tendon cerebellar hemisphere anterior pituitary Top expressed in wall of esophagus mucosa of esophagus epithelium of esophagus ventricular zone Rathke's pouch dentate gyrus of hippocampal formation granule cell lumbar subsegment of spinal cord right kidney zygote embryo More reference expression data BioGPS n/a
Gene ontology Molecular function Hsp90 protein binding NAD-dependent histone deacetylase activity (H3-K14 specific) histone deacetylase activity metal ion binding Hsp70 protein binding protein binding hydrolase activity chromatin binding transcription factor binding deacetylase activity Cellular component cytoplasm histone deacetylase complex cytosol plasma membrane nucleoplasm nuclear chromosome nucleus Biological process histone H3 deacetylation regulation of transcription, DNA-templated regulation of protein stability regulation of telomere maintenance negative regulation of transcription by RNA polymerase II transcription, DNA-templated sister chromatid cohesion regulation of cohesin loading negative regulation of protein ubiquitination histone deacetylation negative regulation of gene expression cellular response to trichostatin A negative regulation of osteoblast differentiation cellular response to forskolin negative regulation of histone H3-K9 acetylation chromatin organization positive regulation of transcription by RNA polymerase II histone H4 deacetylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55869 70315 Ensembl ENSG00000147099 ENSMUSG00000067567 UniProt Q9BY41 Q8VH37 RefSeq (mRNA) NM_001166418 NM_001166419 NM_001166420 NM_001166422 NM_001166448 NM_018486 NM_027382 NM_001313742 RefSeq (protein) NP_001159890 NP_001159891 NP_001159892 NP_001159894 NP_001159920 NP_060956 NP_001300671 NP_081658 Location (UCSC) Chr X: 72.33 – 72.57 Mb Chr X: 101.33 – 101.55 Mb PubMed search [3] [4]
Wikidata
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Function

Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation / deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter.^[7]

Histone deacetylase 8 is involved in skull morphogenesis^[8] and metabolic control of the ERR-alpha / PGC1-alpha transcriptional complex.^[9]

Clinical significance

HDAC8 has been linked to number of disease states notably to acute myeloid leukemia and is related to actin cytoskeleton in smooth muscle cells. siRNA targeting HDAC8 showed anticancer effects.^[10] Inhibition of HDAC8 induced apoptosis has been observed in T cell lymphomas.^[11] In addition the HDAC8 enzyme has been implicated in the pathogenesis of neuroblastoma.^[12] Therefore, there has been interest in developing HDAC8 selective inhibitors.^[13][14] At least 20 disease-causing mutations in this gene have been discovered.^[15]

Interactions

• ERR-alpha.^[9]

See also

• Histone deacetylase