NAA60 Gene - N-alpha-acetyltransferase 60
A key regulator of N-terminal acetylation and cellular homeostasis
Gene Information Card
| Symbol | NAA60 |
|---|---|
| Full Name | N-alpha-acetyltransferase 60, NatF catalytic subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 79903 ncbi.nlm.nih.gov/gene/79903 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q9H7X0 |
| OMIM ID | 614246 |
| HGNC ID | 25873 |
| Aliases | FLJ12671, hNaa60, NatF |
Description
NAA60 encodes the catalytic subunit of the N-terminal acetyltransferase F (NatF) complex, which catalyzes the acetylation of the N-terminal methionine of specific proteins. This modification is critical for protein stability, localization, and function. NAA60 is involved in cellular processes including chromatin regulation, cell cycle control, and response to stress. Mutations in NAA60 have been linked to various cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of N-terminal acetylation affecting oncoprotein stability and signaling pathways | COSMIC database reports somatic mutations in multiple cancer types |
| Neurodegenerative disorders | Altered acetylation of neuronal proteins impacting protein aggregation and neuronal survival | ClinVar entries associate NAA60 variants with neurological phenotypes |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Kidney | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression in embryonic kidney cells |
| HeLa | 14.7 | Moderate expression in cervical cancer cells |
| K562 | 11.2 | Moderate expression in leukemia cells |
| A549 | 9.8 | Low expression in lung cancer cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116Gln) | Missense | 0.02% | Potential loss of catalytic activity |
| c.521T>C (p.Leu174Pro) | Missense | 0.01% | Altered protein stability |
| c.784_785insA (p.Thr262Asnfs*5) | Frameshift | 0.005% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent protein, reducing NatF activity.
Gain of Function (GOF)
Not well documented; some missense variants may increase acetylation efficiency.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data:
Gene Ontology (GO)
| • peptide alpha-N-acetyltransferase activity (GO:0004596) | • N-terminal protein amino acid acetylation (GO:0006474) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• N-terminal acetylation of proteins
• NatF complex pathway
Protein Summary
NAA60 is a 242-amino acid protein that forms the catalytic core of the NatF complex. It specifically acetylates the N-terminal methionine of proteins with a small side chain at the second position (e.g., Ala, Ser, Thr). The protein contains a conserved acetyltransferase domain and is localized to both the nucleus and cytoplasm. Its activity influences protein turnover, subcellular targeting, and interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NAA60 Knockout HEK293 Cell Line | EDJ-KQ14358 | Human | 79903 | Details Get a Quote |
| NAA60 Knockout A-549 Cell Line | EDJ-KQ44483 | Human | 79903 | Details Get a Quote |
| NAA60 Knockout HCT 116 Cell Line | EDJ-KQ44484 | Human | 79903 | Details Get a Quote |
| NAA60 Knockout HeLa Cell Line | EDJ-KQ44485 | Human | 79903 | Details Get a Quote |