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Aliases for HDAC8 Gene

Aliases for HDAC8 Gene

  • Histone Deacetylase 8 2 3
  • Histone Deacetylase-Like 1 2 3
  • HDACL1 3 4
  • CDLS5 3 6
  • MRXS6 3 6
  • Wts 3 6
  • HD8 3 4
  • Wilson-Turner X-Linked Mental Retardation Syndrome 2
  • EC 3.5.1.98 4
  • CDA07 3
  • RPD3 3

External Ids for HDAC8 Gene

Previous Symbols for HDAC8 Gene

  • HDACL1
  • WTS
  • MRXS6

Summaries for HDAC8 Gene

Entrez Gene Summary for HDAC8 Gene

  • 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]

GeneCards Summary for HDAC8 Gene

HDAC8 (Histone Deacetylase 8) is a Protein Coding gene. Diseases associated with HDAC8 include wilson-turner syndrome and cornelia de lange syndrome 5. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include transcription factor binding and NAD-dependent histone deacetylase activity (H3-K9 specific). An important paralog of this gene is HDAC3.

UniProtKB/Swiss-Prot for HDAC8 Gene

  • 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.

Tocris Summary for HDAC8 Gene

  • Histone Deacetylases (HDACs) are a group of enzymes closely related to sirtuins. They catalyze the removal of acetyl groups from lysine residues in histones and non-histone proteins, resulting in transcriptional repression. In general, they do not act autonomously but as components of large multiprotein complexes, such as pRb-E2F and mSin3A, that mediate important transcription regulatory pathways. There are three classes of HDACs; classes 1, 2 and 4, which are closely related Zn2+-dependent enzymes. HDACs are ubiquitously expressed and they can exist in the nucleus or cytosol. Their subcellular localization is effected by protein-protein interactions (for example HDAC-14.3.3 complexes are retained in the cytosol) and by the class to which they belong (class 1 HDACs are predominantly nuclear whilst class 2 HDACs shuttle between the nucleus and cytosol). HDACs have a role in cell growth arrest, differentiation and death and this has led to substantial interest in HDAC inhibitors as possible antineoplastic agents.

Gene Wiki entry for HDAC8 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HDAC8 Gene

Genomics for HDAC8 Gene

Genomic Location for HDAC8 Gene

Start:
72,329,516 bp from pter
End:
72,573,103 bp from pter
Size:
243,588 bases
Orientation:
Minus strand

Genomic View for HDAC8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HDAC8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HDAC8 Gene

Regulatory Elements for HDAC8 Gene

Proteins for HDAC8 Gene

  • Protein details for HDAC8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BY41-HDAC8_HUMAN
    Recommended name:
    Histone deacetylase 8
    Protein Accession:
    Q9BY41
    Secondary Accessions:
    • A6ND12
    • A6ND61
    • A6NET3
    • A6NJR3
    • A8MQ62
    • B4DKN0
    • B4DV22
    • Q86VC8
    • Q9NP76
    • Q9NYH4

    Protein attributes for HDAC8 Gene

    Size:
    377 amino acids
    Molecular mass:
    41758 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240; Note=Binds 1 divalent metal cation per subunit.;
    Quaternary structure:
    • Interacts with PEPB2-MYH11, a fusion protein consisting of the 165 N-terminal residues of CBF-beta (PEPB2) with the tail region of MYH11 produced by the inversion Inv(16)(p13q22), a translocation associated with acute myeloid leukemia of M4EO subtype. The PEPB2-MYH1 fusion protein also interacts with RUNX1, a well known transcriptional regulator, suggesting that the interaction with HDAC8 may participate in the conversion of RUNX1 into a constitutive transcriptional repressor. Interacts with CBFA2T3. Interacts with phosphorylated SMG5/EST1B; this interaction protects SMG5 from ubiquitin-mediated degradation. Associates with alpha-SMA (smooth muscle alpha-actin).

    Three dimensional structures from OCA and Proteopedia for HDAC8 Gene

    Alternative splice isoforms for HDAC8 Gene

neXtProt entry for HDAC8 Gene

Proteomics data for HDAC8 Gene at MOPED

Post-translational modifications for HDAC8 Gene

  • Phosphorylated by PKA on serine 39. Phosphorylation reduces deacetylase activity observed preferentially on histones H3 and H4.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys370

No data available for DME Specific Peptides for HDAC8 Gene

Domains for HDAC8 Gene

UniProtKB/Swiss-Prot:

HDAC8_HUMAN
Family:
  • Belongs to the histone deacetylase family. HD type 1 subfamily.:
    • Q9BY41
genes like me logo Genes that share domains with HDAC8: view

No data available for Gene Families for HDAC8 Gene

Function for HDAC8 Gene

Molecular function for HDAC8 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of an N(6)-acetyl-lysine residue of a histone to yield a deacetylated histone
UniProtKB/Swiss-Prot EnzymeRegulation: Its activity is inhibited by trichostatin A (TSA), suberoylanilide hydroxamic acid (SAHA), 3-(1-methyl-4-phenylacetyl-1H-2-pyrrolyl)-N-hydroxy-2-propenamide (APHA), 4-dimethylamino-N-(6-hydroxycarbamoyethyl)benzamide-N-hydroxy-7-(4-dimethylaminobenzoyl)aminoheptanamide (MS-344), 5-(4-methyl-benzoylamino)-biphenyl-3,4-dicarboxylic acid 3-dimethylamide 4-hydroxyamide (CRA-A) and butyrate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for HDAC8 Gene

Gene Ontology (GO) - Molecular Function for HDAC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004407 histone deacetylase activity TAS 12711221
GO:0008134 transcription factor binding TAS 12711221
GO:0032041 NAD-dependent histone deacetylase activity (H3-K14 specific) IEA --
GO:0046872 metal ion binding IEA --
GO:0046969 NAD-dependent histone deacetylase activity (H3-K9 specific) IEA --
genes like me logo Genes that share ontologies with HDAC8: view
genes like me logo Genes that share phenotypes with HDAC8: view

Animal Models for HDAC8 Gene

MGI Knock Outs for HDAC8:

miRNA for HDAC8 Gene

miRTarBase miRNAs that target HDAC8

No data available for Transcription Factor Targeting and HOMER Transcription for HDAC8 Gene

Localization for HDAC8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HDAC8 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HDAC8 Gene COMPARTMENTS Subcellular localization image for HDAC8 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for HDAC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 histone deacetylase complex TAS 12711221
GO:0000228 nuclear chromosome TAS 10748112
GO:0005634 nucleus TAS 12711221
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 12711221
genes like me logo Genes that share ontologies with HDAC8: view

Pathways for HDAC8 Gene

genes like me logo Genes that share pathways with HDAC8: view

Gene Ontology (GO) - Biological Process for HDAC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS 10748112
GO:0000278 mitotic cell cycle TAS --
GO:0006325 chromatin organization TAS --
GO:0006333 chromatin assembly or disassembly TAS 10748112
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with HDAC8: view

Compounds for HDAC8 Gene

(29) ApexBio Compounds for HDAC8 Gene

Compound Action Cas Number
AR-42 (OSU-HDAC42) Pan-HDAC inhibitor [935881-37-1]
Belinostat (PXD101) Novel and potent hydroxamate-type HDAC inhibitor [414864-00-9]
CI994 (Tacedinaline) HDAC1 and 3 inhibitor [112522-64-2]
CUDC-101 Multitargeted HDAC inhibitor [1012054-59-9]
CUDC-907 dual PI3K and HDAC inhibitor [1339928-25-4]
Droxinostat Selective HDAC inhibitor [99873-43-5]
Entinostat (MS-275,SNDX-275) Entinostat inhibits HDAC1 and HDAC3 but not HDAC8 [209783-80-2]
ITF2357 (Givinostat) HDAC inhibitor, inhibits class I and class II HDACs [732302-99-7]
JNJ-26481585 Potent pan-HDAC inhibitor [875320-29-9]
LAQ824 (NVP-LAQ824,Dacinostat) Novel and potent HDAC inhibitor [404951-53-7]
M344 Cell-permeable HDAC inhibitor [251456-60-7]
MC1568 Selective class IIa HDAC inhibitor [852475-26-4]
Mocetinostat (MGCD0103, MG0103) Class I selective HDAC inhibitor [726169-73-9]
Panobinostat (LBH589) Broad spectrum HDAC inhibitor, inhibits HDAC1-11 [404950-80-7]
PCI-24781 (CRA-024781) Novel pan-HDAC inhibitor [783355-60-2]
PCI-34051 Potent, specific HDAC8 inhibitor [950762-95-5]
Pracinostat (SB939) Pan-HDAC inhibitor, inhibits all HDAC isozymes except HDAC6 and HDAC7 [929016-96-6]
Resminostat (RAS2410) Potent inhibitor of HDAC classes I and II [864814-88-0]
RG2833 Brain-penetrant HDAC inhibitor [1215493-56-3]
RGFP966 Specific HDAC3 inhibitor [1396841-57-8]
Rocilinostat (ACY-1215) Selective HDAC6 inhibitor [1316214-52-4]
Romidepsin (FK228, depsipeptide) Potent HDAC1 and HDAC2 inhibitor [128517-07-7]
Scriptaid Cell-permeable HDAC inhibitor [287383-59-9]
Trichostatin A (TSA) Cell-permeable, non-competitive, and reversible HDAC inhibitor [58880-19-6]
Tubacin Selective HDAC6 inhibitor [1350555-93-9]
Tubastatin A Potent and selective HDAC6 inhibitor [1252003-15-8]
Tubastatin A HCl Potent and selective HDAC6 inhibitor [1310693-92-5]
Valproic acid sodium salt HDAC inhibitor [1069-66-5]
Vorinostat (SAHA, MK0683) Class I and II HDAC inhibitor [149647-78-9]

(5) Tocris Compounds for HDAC8 Gene

Compound Action Cas Number
LMK 235 Selective HDAC4/HDAC5 inhibitor [1418033-25-6]
Sodium 4-Phenylbutyrate Histone deacetylase inhibitor [1716-12-7]
TCS HDAC6 20b Selective HDAC6 inhibitor [956154-63-5]
Trichostatin A Histone deacetylase inhibitor [58880-19-6]
Tubacin HDAC6 inhibitor; inhibits alpha-tubulin deacetylation [1350555-93-9]
genes like me logo Genes that share compounds with HDAC8: view

Transcripts for HDAC8 Gene

Unigene Clusters for HDAC8 Gene

Histone deacetylase 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HDAC8 Gene

No ASD Table

Relevant External Links for HDAC8 Gene

GeneLoc Exon Structure for
HDAC8
ECgene alternative splicing isoforms for
HDAC8

Expression for HDAC8 Gene

mRNA expression in normal human tissues for HDAC8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HDAC8 Gene

SOURCE GeneReport for Unigene cluster for HDAC8 Gene Hs.310536

mRNA Expression by UniProt/SwissProt for HDAC8 Gene

Q9BY41-HDAC8_HUMAN
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.
genes like me logo Genes that share expressions with HDAC8: view

Orthologs for HDAC8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HDAC8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HDAC8 36
  • 99.09 (n)
  • 99.32 (a)
cow
(Bos Taurus)
Mammalia HDAC8 36
  • 94.43 (n)
  • 95.76 (a)
HDAC8 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HDAC8 36
  • 94.69 (n)
  • 97.35 (a)
HDAC8 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hdac8 36
  • 90.89 (n)
  • 96.29 (a)
Hdac8 16
Hdac8 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HDAC8 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HDAC8 37
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911968 36
  • 91.16 (n)
  • 96.29 (a)
chicken
(Gallus gallus)
Aves HDAC8 36
  • 80.74 (n)
  • 89.72 (a)
HDAC8 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HDAC8 37
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7001 36
tropical clawed frog
(Silurana tropicalis)
Amphibia hdac8 36
  • 74.77 (n)
  • 80.87 (a)
Str.7570 36
zebrafish
(Danio rerio)
Actinopterygii hdac8 36
  • 69.41 (n)
  • 73.4 (a)
hdac8 37
  • 19 (a)
OneToOne
wufd19a02 36
worm
(Caenorhabditis elegans)
Secernentea hda-2 37
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPD3 37
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 47 (a)
OneToOne
Species with no ortholog for HDAC8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HDAC8 Gene

ENSEMBL:
Gene Tree for HDAC8 (if available)
TreeFam:
Gene Tree for HDAC8 (if available)

Paralogs for HDAC8 Gene

Paralogs for HDAC8 Gene

genes like me logo Genes that share paralogs with HDAC8: view

Variants for HDAC8 Gene

Sequence variations from dbSNP and Humsavar for HDAC8 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs438751 -- 72,559,704(+) aggag(C/T)gcctc intron-variant
rs482062 -- 72,338,175(+) cacca(C/G)ctcta intron-variant
rs497551 -- 72,342,668(+) TAAAC(A/G)TATTA intron-variant
rs515992 -- 72,339,543(+) AGGAT(A/G)TATAA intron-variant
rs544484 -- 72,340,373(+) TCAGA(C/G)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HDAC8 Gene

Variant ID Type Subtype PubMed ID
esv2244642 CNV Deletion 18987734
nsv6957 CNV Insertion 18451855

Relevant External Links for HDAC8 Gene

HapMap Linkage Disequilibrium report
HDAC8
Human Gene Mutation Database (HGMD)
HDAC8
Locus Specific Mutation Databases (LSDB)
HDAC8

Disorders for HDAC8 Gene

(2) OMIM Diseases for HDAC8 Gene (300269)

UniProtKB/Swiss-Prot

HDAC8_HUMAN
  • 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:0000269 PubMed: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:0000269 PubMed:22889856}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for HDAC8 Gene

(3) Novoseek inferred disease relationships for HDAC8 Gene

Disease -log(P) Hits PubMed IDs
cancer 27.4 1
leukemia 0 1
tumors 0 4

Relevant External Links for HDAC8

Genetic Association Database (GAD)
HDAC8
Human Genome Epidemiology (HuGE) Navigator
HDAC8
genes like me logo Genes that share disorders with HDAC8: view

Publications for HDAC8 Gene

  1. Cloning and characterization of human histone deacetylase 8. (PMID: 10922473) Van den Wyngaert I. … Kass S.U. (FEBS Lett. 2000) 2 3 4 23
  2. Cloning and characterization of a novel human histone deacetylase, HDAC8. (PMID: 10926844) Buggy J.J. … Clark J.M. (Biochem. J. 2000) 3 4 23
  3. The inv(16) fusion protein associates with corepressors via a smooth muscle myosin heavy-chain domain. (PMID: 12509458) Durst K.L. … Hiebert S.W. (Mol. Cell. Biol. 2003) 3 4 23
  4. Negative regulation of histone deacetylase 8 activity by cyclic AMP- dependent protein kinase A. (PMID: 14701748) Lee H. … Seto E. (Mol. Cell. Biol. 2004) 3 4 23
  5. Histone deacetylase 8 safeguards the human ever-shorter telomeres 1B (hEST1B) protein from ubiquitin-mediated degradation. (PMID: 16809764) Lee H. … Seto E. (Mol. Cell. Biol. 2006) 3 4 23

Products for HDAC8 Gene

  • Addgene plasmids for HDAC8

Sources for HDAC8 Gene

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