HDAC5 Gene - Histone Deacetylase 5
Transcriptional regulator involved in chromatin remodeling and cellular signaling
Gene Information Card
| Symbol | HDAC5 |
|---|---|
| Full Name | Histone Deacetylase 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 10014 ncbi.nlm.nih.gov/gene/10014 |
| Ensembl ID | ENSG00000108848 |
| UniProt ID | Q9UQL6 |
| OMIM ID | 605315 |
| HGNC ID | 4854 |
| Aliases | HD5, NY-CO-9 |
Description
HDAC5 (Histone Deacetylase 5) is a class IIa histone deacetylase that catalyzes the removal of acetyl groups from lysine residues in histone and non-histone proteins. It regulates chromatin structure and gene expression, and is involved in cellular processes such as differentiation, proliferation, and signal transduction. HDAC5 shuttles between the nucleus and cytoplasm in response to cellular signals, and its activity is modulated by phosphorylation and interaction with co-repressor complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | HDAC5 overexpression or altered activity can promote tumorigenesis by repressing tumor suppressor genes and modulating cell cycle and apoptosis pathways. | COSMIC, ClinVar |
| Neurological disorders (e.g., Huntington's disease) | HDAC5 dysregulation affects neuronal gene expression and contributes to neurodegeneration. | OMIM, PubMed |
| Cardiac hypertrophy | HDAC5 represses cardiac gene programs; its nuclear export is associated with hypertrophic signaling. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.5 | Medium |
| Heart | 12.3 | Medium |
| Skeletal Muscle | 15.7 | Medium |
| Liver | 8.9 | Low |
| Kidney | 10.2 | Low |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.1 | Embryonic kidney cells |
| HeLa | 19.8 | Cervical cancer cells |
| K562 | 14.5 | Leukemia cells |
| SH-SY5Y | 25.3 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1124G>A (p.Arg375Gln) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.1570C>T (p.Arg524Trp) | Missense | <0.1% | Potential loss of deacetylase activity |
| c.1966_1967insA (p.Thr656Asnfs*12) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the catalytic domain are predicted to cause loss of deacetylase activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in HDAC5.
Dominant Negative (DN)
Missense mutations in the catalytic domain may act as dominant-negative by competing with wild-type HDAC5 for binding partners.
View complete mutation data：
Gene Ontology (GO)
| • histone deacetylase activity (GO:0004407) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • regulation of transcription (GO:0006355) |
| • histone deacetylation (GO:0016575) | • positive regulation of transcription by RNA polymerase II (GO:0045944) |
Pathways
• Notch signaling pathway
• Huntington disease pathway
• Transcriptional misregulation in cancer
• Chromatin modifying enzymes
Protein Summary
HDAC5 is a 1122-amino acid protein with a conserved deacetylase domain. It belongs to class IIa HDACs and contains a nuclear localization signal and a nuclear export signal, allowing dynamic subcellular localization. HDAC5 interacts with transcription factors such as MEF2 and FOXO, and with co-repressors like SMRT/N-CoR. Its activity is regulated by phosphorylation at serine residues (e.g., Ser259, Ser498) by kinases such as CaMKII and PKD, which promote nuclear export and relieve transcriptional repression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HDAC5 Knockout HEK293 Cell Line | EDJ-KQ1458 | Human | 10014 | Details Get a Quote |
| HDAC5 Knockout A-549 Cell Line | EDJ-KQ21016 | Human | 10014 | Details Get a Quote |
| HDAC5 Knockout HCT 116 Cell Line | EDJ-KQ21017 | Human | 10014 | Details Get a Quote |
| HDAC5 Knockout HeLa Cell Line | EDJ-KQ21018 | Human | 10014 | Details Get a Quote |
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