HDAC1 Gene (Histone Deacetylase 1): Function, Expression, and Disease Relevance
A comprehensive overview of the HDAC1 gene, including its genomic context, protein function, tissue expression, associated diseases, and mutation landscape.
Gene Information Card
| Symbol | HDAC1 |
|---|---|
| Full Name | Histone deacetylase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p35.2-p35.1 |
| NCBI Gene ID | 3065 ncbi.nlm.nih.gov/gene/3065 |
| Ensembl ID | ENSG00000116478 |
| UniProt ID | Q13547 |
| OMIM ID | 601241 |
| HGNC ID | 4852 |
| Aliases | RPD3L1, HD1, DKFZp686H1220 |
Description
The HDAC1 gene encodes a histone deacetylase that removes acetyl groups from lysine residues on histone and non-histone proteins, thereby regulating chromatin structure and gene expression. It is a core component of multiprotein complexes such as Sin3, NuRD, and CoREST, and plays critical roles in cell cycle control, differentiation, and apoptosis. HDAC1 is ubiquitously expressed and is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or aberrant recruitment leads to silencing of tumor suppressor genes; HDAC inhibitors are used therapeutically. | COSMIC, PubMed |
| Neurodevelopmental disorders | Mutations or dysregulation affect neuronal gene expression and synaptic plasticity. | ClinVar, OMIM |
| Inflammatory diseases | HDAC1 modulates inflammatory gene expression via deacetylation of transcription factors. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High |
| Lung | Medium | Medium |
| Liver | Medium | Medium |
| Kidney | Medium | Medium |
| Testis | High | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line |
| A549 | Medium | Lung carcinoma |
| MCF7 | Medium | Breast cancer |
| K562 | High | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | Rare | Potential loss of function |
| c.487A>G (p.Thr163Ala) | Missense | Rare | Unknown |
| c.1120G>A (p.Val374Ile) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair catalytic activity or complex formation may reduce deacetylase activity, leading to altered gene expression.
Gain of Function (GOF)
Amplification or overexpression can enhance deacetylase activity, promoting tumor suppressor silencing.
Dominant Negative (DN)
Mutant HDAC1 may interfere with wild-type function in complexes, exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • histone deacetylase activity | • chromatin binding |
| • transcription corepressor activity | • protein deacetylase activity |
| • zinc ion binding | • nucleus |
| • cytoplasm | • chromatin remodeling |
| • negative regulation of transcription by RNA polymerase II | • cell cycle |
Pathways
• Notch signaling pathway
• Cell cycle
• Epigenetic regulation of gene expression
• p53 signaling pathway
• Wnt signaling pathway
Protein Summary
HDAC1 is a 482-amino acid protein that belongs to class I histone deacetylases. It catalyzes the removal of acetyl groups from histone tails, leading to chromatin compaction and transcriptional repression. HDAC1 interacts with numerous transcription factors and corepressor complexes, and its activity is regulated by post-translational modifications. It is essential for embryonic development and is frequently overexpressed in cancers, making it a target for anticancer drugs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HDAC10 Knockout HEK293 Cell Line | EDJ-KQ9937 | Human | 83933 | Details Get a Quote |
| HDAC11 Knockout HEK293 Cell Line | EDJ-KQ13729 | Human | 79885 | Details Get a Quote |
| HDAC1 Knockout HEK293 Cell Line | EDJ-KQ17823 | Human | 3065 | Details Get a Quote |
| HDAC1 Knockout A-549 Cell Line | EDJ-KQ18697 | Human | 3065 | Details Get a Quote |
| HDAC1 Knockout HCT 116 Cell Line | EDJ-KQ18698 | Human | 3065 | Details Get a Quote |
| HDAC1 Knockout HeLa Cell Line | EDJ-KQ18699 | Human | 3065 | Details Get a Quote |
| HDAC10 Knockout A-549 Cell Line | EDJ-KQ36836 | Human | 83933 | Details Get a Quote |
| HDAC10 Knockout HCT 116 Cell Line | EDJ-KQ36837 | Human | 83933 | Details Get a Quote |
| HDAC10 Knockout HeLa Cell Line | EDJ-KQ36838 | Human | 83933 | Details Get a Quote |
| HDAC11 Knockout HCT 116 Cell Line | EDJ-KQ42225 | Human | 79885 | Details Get a Quote |
| HDAC11 Knockout A-549 Cell Line | EDJ-KQ43486 | Human | 79885 | Details Get a Quote |
| HDAC11 Knockout HeLa Cell Line | EDJ-KQ43488 | Human | 79885 | Details Get a Quote |
| HDAC10 Knockout HAP1 Cell Line | EDC08092 | Human | 83933 | Details Get a Quote |
| HDAC11 Knockout HAP1 Cell Line | EDC09216 | Human | 79885 | Details Get a Quote |
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