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HDAC7 histone deacetylase 7 [ Homo sapiens (human) ]

Gene ID: 51564, updated on 10-Jan-2019

Summary

Official Symbol
HDAC7provided by HGNC
Official Full Name
histone deacetylase 7provided by HGNC
Primary source
HGNC:HGNC:14067
See related
Ensembl:ENSG00000061273 MIM:606542
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
HD7; HD7A; HDAC7A
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 has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in lung (RPKM 18.9), spleen (RPKM 18.4) and 25 other tissues See more
Orthologs

Genomic context

See HDAC7 in Genome Data Viewer
Location:
12q13.11
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (47782710..47820612, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (48176505..48213763, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369748 Neighboring gene endonuclease, poly(U) specific Neighboring gene Rap guanine nucleotide exchange factor 3 Neighboring gene solute carrier family 48 member 1 Neighboring gene long intergenic non-protein coding RNA 2354 Neighboring gene vitamin D receptor

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
matrix gag HIV-1 MA downregulates HDAC7 gene expression in HepG2 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Alcoholism, organism-specific biosystem (from KEGG)
    Alcoholism, organism-specific biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Alcoholism, conserved biosystem (from KEGG)
    Alcoholism, conserved biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Cardiac Hypertrophic Response, organism-specific biosystem (from WikiPathways)
    Cardiac Hypertrophic Response, organism-specific biosystemIntegrated schematic of the more extensively characterized intracellular signal-transduction pathways that coordinate the cardiac hypertrophic response. During development and in response to physiolo...
  • Cell Cycle, organism-specific biosystem (from WikiPathways)
    Cell Cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
  • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystemWhen found in cis, HD and PEST domain mutations act synergistically, increasing NOTCH1 transcriptional activity up to ~40-fold, compared with up to ~10-fold and up to ~2-fold increase with HD mutatio...
  • Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystemAs NOTCH1 PEST domain is intracellular, NOTCH1 PEST domain mutants are expected to behave as the wild-type NOTCH1 with respect to ligand binding and proteolytic cleavage mediated activation of signal...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    HIF-1-alpha transcription factor network, organism-specific biosystem
    HIF-1-alpha transcription factor network
  • Initiation of transcription and translation elongation at the HIV-1 LTR, organism-specific biosystem (from WikiPathways)
    Initiation of transcription and translation elongation at the HIV-1 LTR, organism-specific biosystemFollowing cellular activation or drug treatment, NFAT and NF-kB translocate to the nucleus and bind sites at the HIV-1 LTR. NFAT and NF-kB recruit p300/CBP to the LTR, resulting in acetylation of his...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystem (from WikiPathways)
    MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystemThis pathway shows the role of microRNAs in the process of cardiac hypertrophy. MicroRNA targets were predicted by the TargetScan algorithm, and the predicted interactions are shown in red dashed lin...
  • NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystem (from REACTOME)
    NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystemNICD1 produced by activation of NOTCH1 in response to Delta and Jagged ligands (DLL/JAG) presented in trans, traffics to the nucleus where it acts as a transcription regulator. In the nucleus, NICD1 ...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Regulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Androgen receptor activity, organism-specific biosystem
    Regulation of Androgen receptor activity
  • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
    SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
  • SUMOylation, organism-specific biosystem (from REACTOME)
    SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
  • SUMOylation of DNA damage response and repair proteins, organism-specific biosystem (from REACTOME)
    SUMOylation of DNA damage response and repair proteins, organism-specific biosystemSeveral factors that participate in DNA damage response and repair are SUMOylated (reviewed in Dou et al. 2011, Bekker-Jensen and Mailand 2011, Ulrich 2012, Psakhye and Jentsch 2012, Bologna and Ferr...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
  • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
  • Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystemMutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increas...
  • Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystemNOTCH1 PEST domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL). PEST domain mutations interfere with ubiquitination-mediated NOTCH1 downregulation and result in prol...
  • Signaling by NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 in Cancer, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). This tra...
  • Signaling events mediated by HDAC Class I, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by HDAC Class I, organism-specific biosystem
    Signaling events mediated by HDAC Class I
  • Signaling events mediated by HDAC Class II, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by HDAC Class II, organism-specific biosystem
    Signaling events mediated by HDAC Class II
  • Viral carcinogenesis, organism-specific biosystem (from KEGG)
    Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • Viral carcinogenesis, conserved biosystem (from KEGG)
    Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ99588, DKFZp586J0917

Gene Ontology Provided by GOA

Function Evidence Code Pubs
14-3-3 protein binding IDA
Inferred from Direct Assay
more info
PubMed 
NAD-dependent histone deacetylase activity (H3-K14 specific) IEA
Inferred from Electronic Annotation
more info
 
SUMO transferase activity TAS
Traceable Author Statement
more info
 
activating transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase C binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell-cell junction assembly IEA
Inferred from Electronic Annotation
more info
 
histone H3 deacetylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of NIK/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of interleukin-2 production IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell migration involved in sprouting angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein sumoylation IEA
Inferred from Electronic Annotation
more info
 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
histone deacetylase complex IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
histone deacetylase 7
Names
histone deacetylase 7A
NP_001091886.1
NP_001295019.1
NP_056216.2
XP_011536780.1
XP_011536782.1
XP_011536783.1
XP_011536784.1
XP_011536785.1
XP_016874944.1
XP_016874945.1
XP_024304786.1

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001098416.3NP_001091886.1  histone deacetylase 7 isoform d

    See identical proteins and their annotated locations for NP_001091886.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the mid-coding region, compared to variant 1. The resulting isoform (d) has the same N- and C-termini but is shorter than isoform a.
    Source sequence(s)
    BC020505, BC064840, BM144303, DC376749
    Consensus CDS
    CCDS41776.1
    UniProtKB/Swiss-Prot
    Q8WUI4
    Related
    ENSP00000351326.3, ENST00000354334.7
    Conserved Domains (1) summary
    cd10008
    Location:520897
    HDAC7; Histone deacetylase 7
  2. NM_001308090.1NP_001295019.1  histone deacetylase 7 isoform e

    See identical proteins and their annotated locations for NP_001295019.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (e) has the same N- and C-termini but is shorter than isoform a.
    Source sequence(s)
    AK122588, AK299292, AK303481, BM144303, DC376749
    Consensus CDS
    CCDS81685.1
    UniProtKB/Swiss-Prot
    Q8WUI4
    Related
    ENSP00000448532.1, ENST00000552960.5
    Conserved Domains (1) summary
    cd10008
    Location:540917
    HDAC7; Histone deacetylase 7
  3. NM_001368046.1NP_001354975.1  histone deacetylase 7 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) encodes the longest isoform (f).
    Source sequence(s)
    AC004466
  4. NM_015401.5NP_056216.2  histone deacetylase 7 isoform a

    See identical proteins and their annotated locations for NP_056216.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as variant 3) encodes isoform a (also known as isoform c).
    Source sequence(s)
    AY302468, BC020505, DC376749
    Consensus CDS
    CCDS8756.2
    UniProtKB/Swiss-Prot
    Q8WUI4
    Related
    ENSP00000080059.7, ENST00000080059.11
    Conserved Domains (1) summary
    cd10008
    Location:557934
    HDAC7; Histone deacetylase 7

RNA

  1. NR_160435.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC004466
  2. NR_160436.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC004466

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    47782710..47820612 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538481.1XP_011536783.1  histone deacetylase 7 isoform X5

    See identical proteins and their annotated locations for XP_011536783.1

    UniProtKB/Swiss-Prot
    Q8WUI4
    Related
    ENSP00000404394.2, ENST00000427332.6
    Conserved Domains (1) summary
    cd10008
    Location:518895
    HDAC7; Histone deacetylase 7
  2. XM_011538482.1XP_011536784.1  histone deacetylase 7 isoform X5

    See identical proteins and their annotated locations for XP_011536784.1

    UniProtKB/Swiss-Prot
    Q8WUI4
    Conserved Domains (1) summary
    cd10008
    Location:518895
    HDAC7; Histone deacetylase 7
  3. XM_024449018.1XP_024304786.1  histone deacetylase 7 isoform X3

    Conserved Domains (1) summary
    cd10008
    Location:564941
    HDAC7; Histone deacetylase 7
  4. XM_017019455.1XP_016874944.1  histone deacetylase 7 isoform X2

  5. XM_011538480.1XP_011536782.1  histone deacetylase 7 isoform X4

    Conserved Domains (1) summary
    cd10008
    Location:564941
    HDAC7; Histone deacetylase 7
  6. XM_011538478.1XP_011536780.1  histone deacetylase 7 isoform X1

    Conserved Domains (1) summary
    cd10008
    Location:601978
    HDAC7; Histone deacetylase 7
  7. XM_017019456.1XP_016874945.1  histone deacetylase 7 isoform X6

  8. XM_011538483.1XP_011536785.1  histone deacetylase 7 isoform X7

RNA

  1. XR_001748761.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_016596.3: Suppressed sequence

    Description
    NM_016596.3: This RefSeq was temporarily suppressed because the CDS was partial.
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