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HDAC8 histone deacetylase 8 [ Homo sapiens (human) ]

Gene ID: 55869, updated on 8-May-2016
Official Symbol
HDAC8provided by HGNC
Official Full Name
histone deacetylase 8provided by HGNC
Primary source
HGNC:HGNC:13315
See related
Ensembl:ENSG00000147099 HPRD:02227; MIM:300269; Vega:OTTHUMG00000021814
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; 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]
Orthologs
Location:
Xq13
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (72329516..72573103, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (71549366..71792953, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373250 Neighboring gene ribosomal protein S4, X-linked Neighboring gene Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 Neighboring gene phosphorylase kinase regulatory subunit alpha 1 Neighboring gene matrin 3 pseudogene Neighboring gene uncharacterized LOC101928259

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Hsp70 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Hsp90 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NAD-dependent histone deacetylase activity (H3-K14 specific) IEA
Inferred from Electronic Annotation
more info
 
histone deacetylase activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
chromatin assembly or disassembly TAS
Traceable Author Statement
more info
PubMed 
chromatin modification TAS
Traceable Author Statement
more info
PubMed 
histone H3 deacetylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
regulation of cohesin loading IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein stability IDA
Inferred from Direct Assay
more info
PubMed 
regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
sister chromatid cohesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
histone deacetylase complex TAS
Traceable Author Statement
more info
PubMed 
nuclear chromosome TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
histone deacetylase 8
Names
histone deacetylase-like 1
NP_001159890.1
NP_001159891.1
NP_001159892.1
NP_001159894.1
NP_001159920.1
NP_060956.1

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

  1. NG_015851.1 RefSeqGene

    Range
    5001..248588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166418.1NP_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, BP229332, DC352390
    Consensus CDS
    CCDS55449.1
    UniProtKB/Swiss-Prot
    Q9BY41
    Related
    ENSP00000362691, ENST00000373589
    Conserved Domains (1) summary
    cl17011
    Location:16286
    Arginase_HDAC; Arginase-like and histone-like hydrolases
  2. NM_001166419.1NP_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, BP229332, DC352390
    Consensus CDS
    CCDS55451.1
    UniProtKB/Swiss-Prot
    Q9BY41
    Related
    ENSP00000414486, OTTHUMP00000023540, ENST00000439122, OTTHUMT00000057194
    Conserved Domains (1) summary
    cl17011
    Location:16246
    Arginase_HDAC; Arginase-like and histone-like hydrolases
  3. NM_001166420.1NP_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, BP229332, BQ189619, DC352390
    Consensus CDS
    CCDS55450.1
    UniProtKB/Swiss-Prot
    Q9BY41
    Related
    ENSP00000362655, OTTHUMP00000023543, ENST00000373554, OTTHUMT00000057197
    Conserved Domains (1) summary
    cl17011
    Location:16146
    Arginase_HDAC; Arginase-like and histone-like hydrolases
  4. NM_001166422.1NP_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, DC352390
    Consensus CDS
    CCDS55452.1
    UniProtKB/Swiss-Prot
    Q9BY41
    Related
    ENSP00000362657, OTTHUMP00000023541, ENST00000373556, OTTHUMT00000057195
    Conserved Domains (1) summary
    cl17011
    Location:16147
    Arginase_HDAC; Arginase-like and histone-like hydrolases
  5. NM_001166448.1NP_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, DC352390
    Consensus CDS
    CCDS55448.1
    UniProtKB/Swiss-Prot
    Q9BY41
    Related
    ENSP00000362660, OTTHUMP00000023546, ENST00000373559, OTTHUMT00000057200
    Conserved Domains (1) summary
    cl17011
    Location:16129
    Arginase_HDAC; Arginase-like and histone-like hydrolases
  6. NM_018486.2NP_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, DC352390
    Consensus CDS
    CCDS14420.1
    UniProtKB/Swiss-Prot
    Q9BY41
    Related
    ENSP00000362674, OTTHUMP00000023539, ENST00000373573, OTTHUMT00000057193
    Conserved Domains (1) summary
    cd10000
    Location:16377
    HDAC8; Histone deacetylase 8 (HDAC8)

RNA

  1. NR_051952.1 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, BP229332, DC352390

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

    Range
    72329516..72573103 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530986.1XP_011529288.1  

    Conserved Domains (1) summary
    cd10000
    Location:16371
    HDAC8; Histone deacetylase 8 (HDAC8)
  2. XM_011530987.1XP_011529289.1  

    Related
    ENSP00000396424, OTTHUMP00000023549, ENST00000415409, OTTHUMT00000057204
    Conserved Domains (1) summary
    cd10000
    Location:16335
    HDAC8; Histone deacetylase 8 (HDAC8)
  3. XM_011530988.1XP_011529290.1  

    Conserved Domains (1) summary
    cd10000
    Location:16339
    HDAC8; Histone deacetylase 8 (HDAC8)

RNA

  1. XR_938402.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    71442370..71685931 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)