Gene Gene information from NCBI Gene database.
Entrez ID 10013
Gene name Histone deacetylase 6
Gene symbol HDAC6
Synonyms (NCBI Gene)
CPBHMHD6JM21KDAC6PPP1R90
Chromosome X
Chromosome location Xp11.23
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 b
miRNA miRNA information provided by mirtarbase database.
45
miRTarBase ID miRNA Experiments Reference
MIRT017204 hsa-miR-335-5p Microarray 18185580
MIRT047316 hsa-miR-181a-5p CLASH 23622248
MIRT052981 hsa-miR-22-3p Luciferase reporter assayqRT-PCRWestern blot 22375943
MIRT438461 hsa-miR-548m Luciferase reporter assay 24216476
MIRT438461 hsa-miR-548m Luciferase reporter assay 24216476
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
170
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IDA 11948178
GO:0000118 Component Histone deacetylase complex IEA
GO:0000209 Process Protein polyubiquitination IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 24413532
GO:0001222 Function Transcription corepressor binding IPI 12535528
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300272 14064 ENSG00000094631
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBN7
Protein name Protein deacetylase HDAC6 (EC 3.5.1.-) (E3 ubiquitin-protein ligase HDAC6) (EC 2.3.2.-) (Tubulin-lysine deacetylase HDAC6) (EC 3.5.1.-)
Protein function Deacetylates a wide range of non-histone substrates (PubMed:12024216, PubMed:18606987, PubMed:20308065, PubMed:24882211, PubMed:26246421, PubMed:30538141, PubMed:31857589, PubMed:30770470, PubMed:38534334, PubMed:39567688). Plays a central role
PDB 3C5K , 3GV4 , 3PHD , 5B8D , 5EDU , 5KH3 , 5KH7 , 5KH9 , 5WBN , 5WPB , 6CE6 , 6CE8 , 6CEA , 6CEC , 6CED , 6CEE , 6CEF , 7ZYU , 8G43 , 8G44 , 8G45
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00850 Hist_deacetyl 105 402 Histone deacetylase domain Domain
PF00850 Hist_deacetyl 500 798 Histone deacetylase domain Domain
PF02148 zf-UBP 1133 1195 Zn-finger in ubiquitin-hydrolases and other protein Domain
Sequence
MTSTGQDSTTTRQRRSRQNPQSPPQDSSVTSKRNIKKGAVPRSIPNLAEVKKKGKMKKLG
QAMEEDLIVGLQGMDLNLEAEALAGTGLVLDEQLNEFHCLWDDSFPEGPERLHAIKEQLI
QEGLLDRCVSFQARFAEKEELMLVHSLEYIDLMETTQYMNEGELRVLADTYDSVYLHPNS
YSCACLASGSVLRLVDAVLGAEIRNGMAIIRPPGHHAQHSLMDGYCMFNHVAVAARYAQQ
KHRIRRVLIVDWDVHHGQGTQFTFDQDPSVLYFSIHRYEQGRFWPHLKASNWSTTGFGQG
QGYTINVPWNQVGMRDADYIAAFLHVLLPVALEFQPQLVLVAAGFDALQGDPKGEMAATP
AGFAQLTHLLMGLAGGKLILSLEGGYNLRALAEGVSASLHTL
LGDPCPMLESPGAPCRSA
QASVSCALEALEPFWEVLVRSTETVERDNMEEDNVEESEEEGPWEPPVLPILTWPVLQSR
TGLVYDQNMMNHCNLWDSHHPEVPQRILRIMCRLEELGLAGRCLTLTPRPATEAELLTCH
SAEYVGHLRATEKMKTRELHRESSNFDSIYICPSTFACAQLATGAACRLVEAVLSGEVLN
GAAVVRPPGHHAEQDAACGFCFFNSVAVAARHAQTISGHALRILIVDWDVHHGNGTQHMF
EDDPSVLYVSLHRYDHGTFFPMGDEGASSQIGRAAGTGFTVNVAWNGPRMGDADYLAAWH
RLVLPIAYEFNPELVLVSAGFDAARGDPLGGCQVSPEGYAHLTHLLMGLASGRIILILEG
GYNLTSISESMAACTRSL
LGDPPPLLTLPRPPLSGALASITETIQVHRRYWRSLRVMKVE
DREGPSSSKLVTKKAPQPAKPRLAERMTTREKKVLEAGMGKVTSASFGEESTPGQTNSET
AVVALTQDQPSEAATGGATLAQTISEAAIGGAMLGQTTSEEAVGGATPDQTTSEETVGGA
ILDQTTSEDAVGGATLGQTTSEEAVGGATLAQTTSEAAMEGATLDQTTSEEAPGGTELIQ
TPLASSTDHQTPPTSPVQGTTPQISPSTLIGSLRTLELGSESQGASESQAPGEENLLGEA
AGGQDMADSMLMQGSRGLTDQAIFYAVTPLPWCPHLVAVCPIPAAGLDVTQPCGDCGTIQ
ENWVCLSCYQVYCGRYINGHMLQHHGNSGHPLVLSYIDLSAWCYYCQAYVHHQAL
LDVKN
IAHQNKFGEDMPHPH
Sequence length 1215
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neutrophil extracellular trap formation
Amyotrophic lateral sclerosis
Alcoholism
Viral carcinogenesis
  Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
HSF1 activation
Notch-HLH transcription pathway
Cilium Assembly
Transcriptional regulation by RUNX2
Aggrephagy
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
29
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
X-linked dominant chondrodysplasia, Chassaing-Lacombe type Likely pathogenic; Pathogenic rs2519445322, rs2519366970, rs398122390 RCV003315278
RCV004584266
RCV000055614
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of neuronal migration Uncertain significance rs782506012 RCV000201389
HDAC6-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign rs201845777, rs144699758, rs147652236, rs2519387616, rs61735967, rs782203131, rs782001291, rs41312114, rs138084502, rs143689285, rs371512851, rs782255342 RCV003940883
RCV003953985
RCV003974052
RCV003913814
RCV003972066
RCV003949128
RCV003969679
RCV003935344
RCV003920770
RCV003932915
RCV003902876
RCV003902905
Malignant tumor of esophagus Uncertain significance rs782747542 RCV005927149
Thyroid cancer, nonmedullary, 1 Likely benign rs2519379185 RCV005927651
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 37990786
Acute Kidney Injury Associate 36552715
Adenocarcinoma Associate 29383752
Alexander Disease Associate 23634874
Alzheimer Disease Associate 18636984, 32638097, 37990786
Amyotrophic Lateral Sclerosis Associate 29021520, 32638097, 33891869, 40333935
Anemia Diamond Blackfan Associate 34036344
Aortic Valve Calcification of Associate 30579537
Aortic Valve Stenosis Inhibit 30579537
Arthritis Rheumatoid Associate 23632129, 27457515