Gene Gene information from NCBI Gene database.
Entrez ID 3065
Gene name Histone deacetylase 1
Gene symbol HDAC1
Synonyms (NCBI Gene)
GON-10HD1KDAC1RPD3RPD3L1
Chromosome 1
Chromosome location 1p35.2-p35.1
Summary Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the his
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs797044931 A>G Likely-pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
177
miRTarBase ID miRNA Experiments Reference
MIRT003760 hsa-miR-449a BPH-1 and LNCaP)" 19252524
MIRT003760 hsa-miR-449a BPH-1 and LNCaP)" 19252524
MIRT003760 hsa-miR-449a BPH-1 and LNCaP)" 19252524
MIRT003760 hsa-miR-449a Immunoblot 20948989
MIRT006353 hsa-miR-449b-5p Luciferase reporter assayWestern blot 21418558
Transcription factors Transcription factors information provided by TRRUST V2 database.
9
Transcription factor Regulation Reference
DNMT1 Unknown 24475290
EZH2 Repression 20132185
FLI1 Unknown 24058639
MTA1 Unknown 23791785
NFKB1 Unknown 23027620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
139
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IDA 9651585
GO:0000118 Component Histone deacetylase complex IEA
GO:0000118 Component Histone deacetylase complex TAS 12711221
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 18854353, 30599067
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601241 4852 ENSG00000116478
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13547
Protein name Histone deacetylase 1 (HD1) (EC 3.5.1.98) (Protein deacetylase HDAC1) (EC 3.5.1.-) (Protein deacylase HDAC1) (EC 3.5.1.-)
Protein function Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) (PubMed:16762839, PubMed:17704056, PubMed:28497810). Histone deacetylation gives a tag for epigenetic repre
PDB 4BKX , 5ICN , 6Z2J , 6Z2K , 7AO8 , 7AO9 , 7AOA , 7SME , 8VOJ , 8VPQ , 8VRT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00850 Hist_deacetyl 28 319 Histone deacetylase domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous, with higher levels in heart, pancreas and testis, and lower levels in kidney and brain.
Sequence
Sequence length 482
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ATP-dependent chromatin remodeling
Polycomb repressive complex
Cell cycle
Longevity regulating pathway - multiple species
Notch signaling pathway
TGF-beta signaling pathway
Neutrophil extracellular trap formation
Thyroid hormone signaling pathway
Huntington disease
Amphetamine addiction
Alcoholism
Human papillomavirus infection
Epstein-Barr virus infection
Pathways in cancer
Transcriptional misregulation in cancer
Viral carcinogenesis
MicroRNAs in cancer
Chronic myeloid leukemia
  G0 and Early G1
Formation of the beta-catenin:TCF transactivating complex
Downregulation of SMAD2/3:SMAD4 transcriptional activity
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
HDACs deacetylate histones
Notch-HLH transcription pathway
Deactivation of the beta-catenin transactivating complex
SUMOylation of chromatin organization proteins
Repression of WNT target genes
Regulation of TP53 Activity through Acetylation
RNA Polymerase I Transcription Initiation
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
Regulation of PTEN gene transcription
Estrogen-dependent gene expression
Loss of MECP2 binding ability to 5mC-DNA
Regulation of MECP2 expression and activity
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HDAC1-related disorder Likely benign; Benign rs145425494, rs146340055, rs116148674 RCV003903845
RCV003960775
RCV003910537
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Lung Injury Associate 31754335
Adenocarcinoma of Lung Associate 24830600
Adenomatous Polyps Associate 26423403
Anemia Diamond Blackfan Associate 34036344
Aortic Aneurysm Abdominal Associate 31001930
Arthritis Rheumatoid Associate 20609223, 20959025, 34353082
Asthma Associate 24307847, 29956778
Astrocytoma Associate 21143702
Atherosclerosis Associate 33757583
Autoimmune Diseases Associate 30463877