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Aliases for HDAC6 Gene

Aliases for HDAC6 Gene

  • Histone Deacetylase 6 2 3 5
  • EC 3.5.1.98 4 63
  • HD6 3 4
  • Protein Phosphatase 1, Regulatory Subunit 90 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 90 2
  • KIAA0901 4
  • PPP1R90 3
  • CPBHM 3
  • JM21 3

External Ids for HDAC6 Gene

Previous GeneCards Identifiers for HDAC6 Gene

  • GC0XP047463
  • GC0XP046921
  • GC0XP047706
  • GC0XP048416
  • GC0XP048545
  • GC0XP048659
  • GC0XP046319

Summaries for HDAC6 Gene

Entrez Gene Summary for HDAC6 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 II of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains which appear to function independently of each other. This protein possesses histone deacetylase activity and represses transcription. [provided by RefSeq, Jul 2008]

GeneCards Summary for HDAC6 Gene

HDAC6 (Histone Deacetylase 6) is a Protein Coding gene. Diseases associated with HDAC6 include chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia and x-linked dominant chondrodysplasia, chassaing-lacombe type. Among its related pathways are Signaling by GPCR and Cellular response to heat stress. GO annotations related to this gene include enzyme binding and ubiquitin protein ligase binding. An important paralog of this gene is HDAC10.

UniProtKB/Swiss-Prot for HDAC6 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 (By similarity). Plays a central role in microtubule-dependent cell motility via deacetylation of tubulin. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.

  • In addition to its protein deacetylase activity, plays a key role in the degradation of misfolded proteins: when misfolded proteins are too abundant to be degraded by the chaperone refolding system and the ubiquitin-proteasome, mediates the transport of misfolded proteins to a cytoplasmic juxtanuclear structure called aggresome. Probably acts as an adapter that recognizes polyubiquitinated misfolded proteins and target them to the aggresome, facilitating their clearance by autophagy.

Tocris Summary for HDAC6 Gene

  • Histone deacetylases (HDACs) are a group of enzymes closely related to sirtuins. They catalyze acetyl group removal from lysine residues in histones and non-histone proteins, causing transcriptional repression. HDACs are usually components of multiprotein complexes.

Gene Wiki entry for HDAC6 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HDAC6 Gene

Genomics for HDAC6 Gene

Regulatory Elements for HDAC6 Gene

Promoters for HDAC6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HDAC6 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the HDAC6 gene promoter:

Genomic Location for HDAC6 Gene

Chromosome:
X
Start:
48,801,377 bp from pter
End:
48,824,982 bp from pter
Size:
23,606 bases
Orientation:
Plus strand

Genomic View for HDAC6 Gene

Genes around HDAC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HDAC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HDAC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HDAC6 Gene

Proteins for HDAC6 Gene

  • Protein details for HDAC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBN7-HDAC6_HUMAN
    Recommended name:
    Histone deacetylase 6
    Protein Accession:
    Q9UBN7
    Secondary Accessions:
    • O94975
    • Q6NT75
    • Q7L3E5
    • Q96CY0

    Protein attributes for HDAC6 Gene

    Size:
    1215 amino acids
    Molecular mass:
    131419 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with ZMYND15 (By similarity). Interacts with SIRT2 (via both phosphorylated, unphosphorylated, active or inactive forms); the interaction is necessary for the complex to interact with alpha-tubulin. Under proteasome impairment conditions, interacts with UBD via its histone deacetylase 1 and UBP-type zinc-finger regions. Interacts with BBIP10, CBFA2T3, CYLD, DDIT3/CHOP, F-actin and HDAC11. Interacts with FAM65B (PubMed:24687993).
    SequenceCaution:
    • Sequence=BAA74924.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HDAC6 Gene

    Alternative splice isoforms for HDAC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HDAC6 Gene

Proteomics data for HDAC6 Gene at MOPED

Selected DME Specific Peptides for HDAC6 Gene

Post-translational modifications for HDAC6 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HDAC6 (HDAC6)

Domains & Families for HDAC6 Gene

Suggested Antigen Peptide Sequences for HDAC6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBN7

UniProtKB/Swiss-Prot:

HDAC6_HUMAN :
  • Belongs to the histone deacetylase family. HD type 2 subfamily.
  • Contains 1 UBP-type zinc finger.
Family:
  • Belongs to the histone deacetylase family. HD type 2 subfamily.
Similarity:
  • Contains 1 UBP-type zinc finger.
genes like me logo Genes that share domains with HDAC6: view

Function for HDAC6 Gene

Molecular function for HDAC6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of an N(6)-acetyl-lysine residue of a histone to yield a deacetylated histone.
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 (By similarity). Plays a central role in microtubule-dependent cell motility via deacetylation of tubulin. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.
UniProtKB/Swiss-Prot Function:
In addition to its protein deacetylase activity, plays a key role in the degradation of misfolded proteins: when misfolded proteins are too abundant to be degraded by the chaperone refolding system and the ubiquitin-proteasome, mediates the transport of misfolded proteins to a cytoplasmic juxtanuclear structure called aggresome. Probably acts as an adapter that recognizes polyubiquitinated misfolded proteins and target them to the aggresome, facilitating their clearance by autophagy.

Enzyme Numbers (IUBMB) for HDAC6 Gene

Gene Ontology (GO) - Molecular Function for HDAC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008013 beta-catenin binding IPI 18356165
GO:0008270 zinc ion binding IEA --
GO:0031625 ubiquitin protein ligase binding IPI 21753002
GO:0032041 NAD-dependent histone deacetylase activity (H3-K14 specific) IEA --
GO:0048156 tau protein binding IDA 18636984
genes like me logo Genes that share ontologies with HDAC6: view
genes like me logo Genes that share phenotypes with HDAC6: view

Human Phenotype Ontology for HDAC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HDAC6 Gene

MGI Knock Outs for HDAC6:

Animal Model Products

miRNA for HDAC6 Gene

No data available for Transcription Factor Targets and HOMER Transcription for HDAC6 Gene

Localization for HDAC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HDAC6 Gene

Nucleus. Cytoplasm. Perikaryon. Cell projection, dendrite. Cell projection, axon. Note=It is mainly cytoplasmic, where it is associated with microtubules.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HDAC6 Gene COMPARTMENTS Subcellular localization image for HDAC6 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
endosome 4
plasma membrane 4
lysosome 2
mitochondrion 2
vacuole 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for HDAC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005875 microtubule associated complex IDA 19228685
GO:0030425 dendrite ISS --
GO:0043234 protein complex IEA --
genes like me logo Genes that share ontologies with HDAC6: view

Pathways & Interactions for HDAC6 Gene

genes like me logo Genes that share pathways with HDAC6: view

SIGNOR curated interactions for HDAC6 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HDAC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006515 misfolded or incompletely synthesized protein catabolic process IMP 14675537
GO:0006886 intracellular protein transport IMP 16192271
GO:0006996 organelle organization TAS --
genes like me logo Genes that share ontologies with HDAC6: view

Drugs & Compounds for HDAC6 Gene

(49) Drugs for HDAC6 Gene - From: DGIdb, ApexBio, Novoseek, Tocris, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vorinostat Approved, Investigational Pharma inhibitor, Target HDAC inhibitor, Histone deacetylase (HDAC)inhibitors 238
Belinostat Approved, Investigational Pharma Inhibitor Histone deacetylase (HDAC)inhibitors 41
SB939 Investigational Pharma Target Histone deacetylase (HDAC)inhibitors 0
CRA-024781 Investigational Pharma 0
MGCD-0103 Investigational Pharma inhibitor 0

(7) Additional Compounds for HDAC6 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NSC 3852
3565-26-2
Sodium 4-Phenylbutyrate
1716-12-7
genes like me logo Genes that share compounds with HDAC6: view

Drug Products

Transcripts for HDAC6 Gene

Unigene Clusters for HDAC6 Gene

Histone deacetylase 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HDAC6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - - - - - - -
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - - - - - - -
SP14: - - -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22: - -

ExUns: 14a · 14b ^ 15a · 15b ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b ^ 24a · 24b · 24c ^ 25 ^ 26 ^ 27a · 27b · 27c · 27d ·
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - - - -
SP4: - -
SP5:
SP6:
SP7: - - -
SP8: - - -
SP9: - - -
SP10: - - -
SP11: - -
SP12:
SP13:
SP14:
SP15: -
SP16: -
SP17: - -
SP18:
SP19: - - - - - -
SP20:
SP21:
SP22:

ExUns: 27e ^ 28 ^ 29a · 29b · 29c ^ 30a · 30b · 30c ^ 31 ^ 32 ^ 33a · 33b ^ 34
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: - - - - -
SP8:
SP9:
SP10:
SP11:
SP12: - - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: -
SP20:
SP21:
SP22:

Relevant External Links for HDAC6 Gene

GeneLoc Exon Structure for
HDAC6
ECgene alternative splicing isoforms for
HDAC6

Expression for HDAC6 Gene

mRNA expression in normal human tissues for HDAC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HDAC6 Gene

This gene is overexpressed in Liver (7.7), Peripheral blood mononuclear cells (6.6), and Gallbladder (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HDAC6 Gene



SOURCE GeneReport for Unigene cluster for HDAC6 Gene Hs.6764

genes like me logo Genes that share expression patterns with HDAC6: view

Protein tissue co-expression partners for HDAC6 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HDAC6 Gene

Orthologs for HDAC6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HDAC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HDAC6 36
  • 99 (a)
OneToOne
HDAC6 35
  • 99.23 (n)
  • 98.8 (a)
cow
(Bos Taurus)
Mammalia HDAC6 36
  • 80 (a)
OneToOne
HDAC6 35
  • 81.76 (n)
  • 79.36 (a)
dog
(Canis familiaris)
Mammalia HDAC6 35
  • 84.25 (n)
  • 82.73 (a)
HDAC6 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hdac6 16
Hdac6 36
  • 79 (a)
OneToOne
Hdac6 35
  • 81.38 (n)
  • 79.03 (a)
oppossum
(Monodelphis domestica)
Mammalia HDAC6 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 47 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC100911205 35
  • 80.87 (n)
  • 79.04 (a)
lizard
(Anolis carolinensis)
Reptilia HDAC6 36
  • 50 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia hdac6-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hdac6 35
  • 57.51 (n)
  • 51.8 (a)
zebrafish
(Danio rerio)
Actinopterygii hdac6 36
  • 50 (a)
OneToOne
hdac6 35
  • 58.06 (n)
  • 52.55 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000532 35
  • 35.58 (n)
  • 19.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta HDAC6 37
  • 45 (a)
HDAC6 35
  • 52.45 (n)
  • 45.97 (a)
worm
(Caenorhabditis elegans)
Secernentea hda-6 35
  • 48.34 (n)
  • 42.44 (a)
F41H10.6a 37
  • 38 (a)
F41H10.6b 37
  • 39 (a)
F43G6.4 37
  • 33 (a)
Y51H1A.5 37
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HDA1 36
  • 25 (a)
OneToMany
HDA1 38
corn
(Zea mays)
Liliopsida Zm.2498 35
wheat
(Triticum aestivum)
Liliopsida Ta.1597 35
Species with no ortholog for HDAC6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for HDAC6 Gene

ENSEMBL:
Gene Tree for HDAC6 (if available)
TreeFam:
Gene Tree for HDAC6 (if available)

Paralogs for HDAC6 Gene

Paralogs for HDAC6 Gene

genes like me logo Genes that share paralogs with HDAC6: view

Variants for HDAC6 Gene

Sequence variations from dbSNP and Humsavar for HDAC6 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1127346 - 48,823,380(+) GACCA(C/T)CTCGG nc-transcript-variant, reference, missense
VAR_068962 -
rs1467379 -- 48,818,327(+) CACCG(C/T)CAACG intron-variant, reference, missense
rs2075840 -- 48,814,381(+) GGTTG(A/G)GGGTG intron-variant
rs5905711 -- 48,816,100(+) TCCCC(A/C/G)TCAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HDAC6 Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV Gain+Loss 17666407
nsv528292 CNV Gain 19592680
nsv6893 CNV Insertion 18451855

Variation tolerance for HDAC6 Gene

Residual Variation Intolerance Score: 53.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.27; 52.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HDAC6 Gene

HapMap Linkage Disequilibrium report
HDAC6
Human Gene Mutation Database (HGMD)
HDAC6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HDAC6 Gene

Disorders for HDAC6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HDAC6 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
  • cdp-pbhm
x-linked dominant chondrodysplasia, chassaing-lacombe type
  • x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
alexander disease
  • alexander's disease
- elite association - COSMIC cancer census association via MalaCards
Search HDAC6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HDAC6_HUMAN
  • Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (CDP-PBHM) [MIM:300863]: A disease characterized by chondrodysplasia, severe platyspondyly, hydrocephaly, and facial features with microphthalmia. Bone abnormalities include a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. Affected females show a milder phenotype with small stature, sometimes associated with body asymmetry and mild mental retardation. {ECO:0000269 PubMed:20181727}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HDAC6

Genetic Association Database (GAD)
HDAC6
Human Genome Epidemiology (HuGE) Navigator
HDAC6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HDAC6
genes like me logo Genes that share disorders with HDAC6: view

No data available for Genatlas for HDAC6 Gene

Publications for HDAC6 Gene

  1. Three proteins define a class of human histone deacetylases related to yeast Hda1p. (PMID: 10220385) Grozinger C.M. … Schreiber S.L. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23 67
  2. IIp45 inhibits cell migration through inhibition of HDAC6. (PMID: 20008322) Wu Y. … Zhang W. (J. Biol. Chem. 2010) 3 23
  3. Treatment with panobinostat induces glucose-regulated protein 78 acetylation and endoplasmic reticulum stress in breast cancer cells. (PMID: 20371724) Rao R. … Bhalla K.N. (Mol. Cancer Ther. 2010) 3 23
  4. CYLD negatively regulates cell-cycle progression by inactivating HDAC6 and increasing the levels of acetylated tubulin. (PMID: 19893491) Wickstrom S.A. … Massoumi R. (EMBO J. 2010) 3 23
  5. Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6. (PMID: 19910924) Fiesel F.C. … Kahle P.J. (EMBO J. 2010) 3 23

Products for HDAC6 Gene

Sources for HDAC6 Gene

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