HAT1: Histone Acetyltransferase 1
A key enzyme in histone acetylation and chromatin regulation
Gene Information Card
| Symbol | HAT1 |
|---|---|
| Full Name | histone acetyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 8520 ncbi.nlm.nih.gov/gene/8520 |
| Ensembl ID | ENSG00000115904 |
| UniProt ID | O14929 |
| OMIM ID | 603053 |
| HGNC ID | 4821 |
| Aliases | KAT1, HAT-A, HAT1_HUMAN |
Description
HAT1 (histone acetyltransferase 1) encodes a type B histone acetyltransferase that catalyzes the acetylation of newly synthesized histone H4 at lysine 5 and 12 during chromatin assembly. The enzyme forms a complex with histone chaperone proteins and plays a critical role in nucleosome assembly, DNA replication, and repair. HAT1 is involved in epigenetic regulation and has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Dysregulation of histone acetylation leading to altered gene expression and genomic instability | COSMIC; PMID: 25691825 |
| Developmental disorders | Mutations affecting histone acetylation and chromatin assembly | ClinVar; PMID: 23541342 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 9.8 | Medium |
| Lymph node | 8.5 | Medium |
| Brain | 6.2 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| K562 | 11.5 | Leukemia cell line |
| HEK293 | 9.0 | Embryonic kidney cell line |
| A549 | 7.8 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | p.Met1Val; potential loss of start codon |
| c.365C>T | Nonsense | 0.005% | p.Gln122*; premature truncation |
| c.784G>A | Missense | 0.02% | p.Glu262Lys; altered catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or loss of acetyltransferase activity.
Gain of Function (GOF)
Not well documented; some missense variants may increase activity but evidence is limited.
Dominant Negative (DN)
Mutations that disrupt complex formation with histone chaperones may exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • histone acetyltransferase activity (GO:0004407) | • nucleus (GO:0005634) |
| • nucleosome assembly (GO:0006334) | • protein acetylation (GO:0006473) |
| • histone H4 acetylation (GO:0043967) |
Pathways
• Histone acetylation (R-HSA-3214847)
• Chromatin modifying enzymes (R-HSA-3247509)
• Nucleosome assembly (R-HSA-774815)
Protein Summary
HAT1 is a 419-amino acid protein with a conserved acetyltransferase domain. It functions as a cytoplasmic type B histone acetyltransferase, specifically acetylating histone H4 at lysine 5 and 12. The protein forms a heterodimeric complex with HAT1 cofactor (HAT1C) and interacts with chromatin assembly factors. HAT1 is essential for proper nucleosome assembly during DNA replication and repair, and its dysregulation contributes to genomic instability and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HAT1 Knockout HEK293 Cell Line | EDJ-KQ3571 | Human | 8520 | Details Get a Quote |
| HAT1 Knockout A-549 Cell Line | EDJ-KQ25448 | Human | 8520 | Details Get a Quote |
| HAT1 Knockout HCT 116 Cell Line | EDJ-KQ25449 | Human | 8520 | Details Get a Quote |
| HAT1 Knockout HeLa Cell Line | EDJ-KQ25450 | Human | 8520 | Details Get a Quote |
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