KAT5 (Lysine Acetyltransferase 5)
A key catalytic subunit of the NuA4 histone acetyltransferase complex involved in DNA repair, transcriptional regulation, and chromatin remodeling.
Gene Information Card
| Symbol | KAT5 |
|---|---|
| Full Name | Lysine Acetyltransferase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 10524 ncbi.nlm.nih.gov/gene/10524 |
| Ensembl ID | ENSG00000137713 |
| UniProt ID | Q92993 |
| OMIM ID | 601409 |
| HGNC ID | 6295 |
| Aliases | TIP60, HTATIP, PLIP, ESA1, cPLA2 |
Description
KAT5 (lysine acetyltransferase 5), also known as TIP60, is a protein-coding gene that encodes a catalytic subunit of the NuA4 histone acetyltransferase complex. This enzyme acetylates histones H2A, H4, and H2A.Z, as well as non-histone proteins such as p53 and ATM, thereby regulating chromatin structure, DNA repair, apoptosis, and transcriptional activation. KAT5 is essential for embryonic development and is implicated in multiple cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | KAT5 overexpression promotes androgen receptor signaling and cell proliferation | PMID: 15601869 |
| Breast cancer | KAT5-mediated acetylation of p53 enhances tumor suppression; loss of KAT5 correlates with poor prognosis | PMID: 19202061 |
| Colorectal cancer | KAT5 mutations and reduced expression linked to genomic instability | PMID: 23555292 |
| Neurodevelopmental disorders | De novo KAT5 missense variants impair histone acetylation and cause intellectual disability | PMID: 31006510 |
| Ataxia telangiectasia | KAT5 is required for ATM activation in DNA damage response | PMID: 12887909 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 22.3 | High |
| Lymph node | 18.7 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 25.0 | Embryonic kidney cells |
| HeLa | 20.3 | Cervical cancer cells |
| MCF7 | 18.9 | Breast cancer cells |
| K562 | 22.1 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Reduced acetyltransferase activity; associated with neurodevelopmental disorder |
| c.1430A>G (p.Gln477Arg) | Missense | <0.01% | Impaired NuA4 complex assembly |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
| c.1129_1130insA (p.Thr377Asnfs*12) | Frameshift | <0.01% | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish acetyltransferase activity or protein stability.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may act as a gain-of-function by enhancing oncogenic signaling.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg358Trp) may interfere with NuA4 complex function in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• DNA damage response (ATM signaling)
• p53 acetylation and stabilization
• Chromatin remodeling (NuA4 complex)
• Androgen receptor signaling
Protein Summary
KAT5 (TIP60) is a 513-amino acid lysine acetyltransferase that functions as the catalytic core of the NuA4 complex. It contains a MYST-type acetyltransferase domain and a chromodomain that binds methylated histones. The enzyme acetylates histone H4 at lysine 5, 8, 12, and 16, and histone H2A at lysine 5, facilitating open chromatin and transcriptional activation. KAT5 also acetylates non-histone targets such as p53 (Lys120), ATM (Lys3016), and c-Myc, thereby regulating cell cycle, apoptosis, and DNA repair. Its activity is critical for maintaining genomic stability and is frequently dysregulated in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KAT5 Knockout HeLa Cell Line | EDJ-KQ18167 | Human | 10524 | Details Get a Quote |
| KAT5 Knockout HEK293 Cell Line | EDJ-KQ50980 | Human | 10524 | Details Get a Quote |
| KAT5 Knockout A-549 Cell Line | EDJ-KQ63901 | Human | 10524 | Details Get a Quote |
| KAT5 Knockout HCT 116 Cell Line | EDJ-KQ72360 | Human | 10524 | Details Get a Quote |
