HDAC8 histone deacetylase 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HDAC8provided by HGNC
Official Full Name: histone deacetylase 8provided by HGNC
Primary source: HGNC:HGNC:13315
See related: Ensembl:ENSG00000147099 MIM:300269; AllianceGenome:HGNC:13315
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: HD8; WTS; RPD3; CDA07; CDLS5; KDAC8; MRXS6; HDACL1
Summary: 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 family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Expression: Ubiquitous expression in adrenal (RPKM 3.9), thyroid (RPKM 3.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq13.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (72329516..72572843, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (70762405..71005758, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (71549366..71792693, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

hRpn13 shapes the proteome and transcriptome through epigenetic factors HDAC8, PADI4, and transcription factor NF-kappaB p50.
Title: hRpn13 shapes the proteome and transcriptome through epigenetic factors HDAC8, PADI4, and transcription factor NF-κB p50.
HDAC8-mediated inhibition of EP300 drives a transcriptional state that increases melanoma brain metastasis.
Title: HDAC8-mediated inhibition of EP300 drives a transcriptional state that increases melanoma brain metastasis.
Activation of HDAC8 Can Suppress the Proliferation of Osteosarcoma Cells via TP53 and STAT3/ERK Signaling Pathways.
Title: Activation of HDAC8 Can Suppress the Proliferation of Osteosarcoma Cells via TP53 and STAT3/ERK Signaling Pathways.
HDAC8 as an emerging target in drug discovery with special emphasis on medicinal chemistry.
Title: HDAC8 as an emerging target in drug discovery with special emphasis on medicinal chemistry.
Histone deacetylase 8 inhibition prevents the progression of peritoneal fibrosis by counteracting the epithelial-mesenchymal transition and blockade of M2 macrophage polarization.
Title: Histone deacetylase 8 inhibition prevents the progression of peritoneal fibrosis by counteracting the epithelial-mesenchymal transition and blockade of M2 macrophage polarization.
Chemically Diverse S. mansoni HDAC8 Inhibitors Reduce Viability in Worm Larval and Adult Stages.
Title: Chemically Diverse S. mansoni HDAC8 Inhibitors Reduce Viability in Worm Larval and Adult Stages.
PHF5A Contributes to the Maintenance of the Cancer Stem-like Phenotype in Non-Small Cell Lung Cancer by Regulating Histone Deacetylase 8.
Title: PHF5A Contributes to the Maintenance of the Cancer Stem-like Phenotype in Non-Small Cell Lung Cancer by Regulating Histone Deacetylase 8.
Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.
Title: Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.
HDAC8 Activates AKT through Upregulating PLCB1 and Suppressing DESC1 Expression in MEK1/2 Inhibition-Resistant Cells.
Title: HDAC8 Activates AKT through Upregulating PLCB1 and Suppressing DESC1 Expression in MEK1/2 Inhibition-Resistant Cells.
Association of HDAC8 Expression with Pathological Findings in Triple Negative and Non-Triple Negative Breast Cancer: Implications for Diagnosis.
Title: Association of HDAC8 Expression with Pathological Findings in Triple Negative and Non-Triple Negative Breast Cancer: Implications for Diagnosis.

Submit: New GeneRIF Correction See all GeneRIFs (109)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cornelia de Lange syndrome 5 MedGen: C3550903 OMIM: 300882 GeneReviews: Cornelia de Lange Syndrome	Compare labs
De Lange syndrome MedGen: C0270972 GeneReviews: Cornelia de Lange Syndrome	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-03-28) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2018-03-28) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr depletes HDAC1, 2, 3 and 8 to overcome HIV-1 proviral latency in macrophages	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS1163 (e-PCR)
- UniSTS:99075

G32931 (e-PCR)
- UniSTS:117509

RH120411 (e-PCR)
- UniSTS:133406

DXS94 (e-PCR)
- UniSTS:94763

A009W47 (e-PCR)
- UniSTS:14380

L77829 (e-PCR)
- UniSTS:60736

DXS7027E (e-PCR)
- UniSTS:98929

RH16247 (e-PCR)
- UniSTS:26744

RH93559 (e-PCR)
- UniSTS:90791

SGC34789 (e-PCR)
- UniSTS:8392

G30088 (e-PCR)
- UniSTS:20171

DXS1377 (e-PCR)
- UniSTS:99284

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	TAS Traceable Author Statement more info	PubMed
enables Hsp70 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables Hsp90 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone deacetylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables histone deacetylase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone deacetylase activity	TAS Traceable Author Statement more info	PubMed
enables histone decrotonylase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein lysine deacetylase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in chromatin organization	TAS Traceable Author Statement more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in epigenetic regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic sister chromatid cohesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein stability	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
part_of histone deacetylase complex	TAS Traceable Author Statement more info	PubMed
located_in nuclear chromosome	TAS Traceable Author Statement more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: histone deacetylase 8

Names: histone deacetylase-like 1; protein deacetylase HDAC8; protein decrotonylase HDAC8

NP_001159890.1

EC 3.5.1.98

NP_001159891.1

EC 3.5.1.98

NP_001159892.1

EC 3.5.1.98

NP_001159894.1

EC 3.5.1.98

NP_001159920.1

EC 3.5.1.98

NP_001397654.1

EC 3.5.1.98

NP_001397656.1

EC 3.5.1.98

NP_001397657.1

EC 3.5.1.98

NP_001397658.1

EC 3.5.1.98

NP_001397659.1

EC 3.5.1.98

NP_060956.1

EC 3.5.1.98

XP_016885129.2

EC 3.5.1.98

XP_016885132.2

EC 3.5.1.98

XP_016885133.2

EC 3.5.1.98

XP_016885134.2

EC 3.5.1.98

XP_047298208.1

EC 3.5.1.98

XP_047298211.1

EC 3.5.1.98

XP_047298212.1

EC 3.5.1.98

XP_047298213.1

EC 3.5.1.98

XP_054183365.1

EC 3.5.1.98

XP_054183366.1

EC 3.5.1.98

XP_054183367.1

EC 3.5.1.98

XP_054183368.1

EC 3.5.1.98

XP_054183369.1

EC 3.5.1.98

XP_054183370.1

EC 3.5.1.98

XP_054183371.1

EC 3.5.1.98

XP_054183372.1

EC 3.5.1.98

NCBI Reference Sequences (RefSeq)

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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_015851.1 RefSeqGene

Range

5261..248588

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001166418.2 → NP_001159890.1 histone deacetylase 8 isoform 2

See identical proteins and their annotated locations for NP_001159890.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate exons in the 5' coding region, compared to variant 1, resulting in a protein (isoform 2) that maintains the reading frame but is shorter, compared to isoform 1.

Source sequence(s)

AK296641, BC050433

Consensus CDS

CCDS55449.1

UniProtKB/TrEMBL

A0A3B3ISE4

Related

ENSP00000362691.4, ENST00000373589.9

Conserved Domains (1) summary

cl17011
Location:16 → 286

Arginase_HDAC; Arginase-like and histone-like hydrolases
NM_001166419.2 → NP_001159891.1 histone deacetylase 8 isoform 3

See identical proteins and their annotated locations for NP_001159891.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks several alternate 3' exons and uses an alternate 3' terminal exon, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK074326

Consensus CDS

CCDS55451.1

UniProtKB/TrEMBL

A0A3B3IRZ8

Related

ENSP00000414486.2, ENST00000439122.7

Conserved Domains (1) summary

cl17011
Location:16 → 246

Arginase_HDAC; Arginase-like and histone-like hydrolases
NM_001166420.2 → NP_001159892.1 histone deacetylase 8 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks a large portion of the 3' coding region and has a distinct 3' UTR, compared to variant 1. The encoded isoform (5) has a shorter C-terminus, compared to isoform 1.

Source sequence(s)

AI651236, BF514915, BQ189619

Consensus CDS

CCDS55450.1

UniProtKB/TrEMBL

A0A3B3IS93

Related

ENSP00000362655.1, ENST00000373554.6

Conserved Domains (1) summary

cl17011
Location:16 → 146

Arginase_HDAC; Arginase-like and histone-like hydrolases
NM_001166422.2 → NP_001159894.1 histone deacetylase 8 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks multiple alternate 3' exons and uses an alternate 3' terminal exon, compared to variant 1. The encoded isoform (5) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AI651236, AI916593, BP229332

Consensus CDS

CCDS55452.1

UniProtKB/TrEMBL

A0A3B3IS93

Related

ENSP00000362657.3, ENST00000373556.8

Conserved Domains (1) summary

cl17011
Location:16 → 147

Arginase_HDAC; Arginase-like and histone-like hydrolases
NM_001166448.2 → NP_001159920.1 histone deacetylase 8 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks multiple alternate coding exons and uses an alternate 3' terminal exon, compared to variant 1. The encoded isoform (3) maintains the reading frame, but is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK074326, BP229332, BQ632790

Consensus CDS

CCDS55448.1

UniProtKB/Swiss-Prot

Q9BY41

Related

ENSP00000362660.4, ENST00000373559.8

Conserved Domains (1) summary

cl17011
Location:16 → 129

Arginase_HDAC; Arginase-like and histone-like hydrolases
NM_001410725.1 → NP_001397654.1 histone deacetylase 8 isoform 7

Status: REVIEWED

Source sequence(s)

AL133500, BX295542

Consensus CDS

CCDS94633.1

UniProtKB/TrEMBL

A0A3B3IS68

Related

ENSP00000497188.1, ENST00000647886.1
NM_001410727.1 → NP_001397656.1 histone deacetylase 8 isoform 8

Status: REVIEWED

Source sequence(s)

AL133500, BX295542

Consensus CDS

CCDS94631.1

UniProtKB/TrEMBL

A6NFW1

Related

ENSP00000362685.2, ENST00000373583.6
NM_001410728.1 → NP_001397657.1 histone deacetylase 8 isoform 9

Status: REVIEWED

Source sequence(s)

AL133500, BX295542

Consensus CDS

CCDS94630.1

UniProtKB/TrEMBL

A0A3B3IT30

Related

ENSP00000497568.1, ENST00000647654.1
NM_001410729.1 → NP_001397658.1 histone deacetylase 8 isoform 10

Status: REVIEWED

Source sequence(s)

AL133500, BX295542

Consensus CDS

CCDS94634.1

UniProtKB/TrEMBL

A0A3B3ISS7

Related

ENSP00000497764.1, ENST00000648834.1
NM_001410730.1 → NP_001397659.1 histone deacetylase 8 isoform 11

Status: REVIEWED

Source sequence(s)

AL133500, BX295542

Consensus CDS

CCDS94632.1

UniProtKB/TrEMBL

A0A3B3IU01

Related

ENSP00000498144.1, ENST00000650126.1
NM_018486.3 → NP_060956.1 histone deacetylase 8 isoform 1

See identical proteins and their annotated locations for NP_060956.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AJ277724, BC050433, BP229332

Consensus CDS

CCDS14420.1

UniProtKB/Swiss-Prot

A6ND12, A6ND61, A6NET3, A6NJR3, A8MQ62, B4DKN0, B4DV22, Q86VC8, Q9BY41, Q9NP76, Q9NYH4

UniProtKB/TrEMBL

A0A3B3ITZ3

Related

ENSP00000362674.3, ENST00000373573.9

Conserved Domains (1) summary

cd10000
Location:16 → 377

HDAC8; Histone deacetylase 8 (HDAC8)

RNA

NR_051952.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK298767, BC050433, DC352390

Related

ENST00000650471.1