NAA50 Gene (N-alpha-acetyltransferase 50, NatE catalytic subunit)
Essential regulator of N-terminal acetylation and chromosomal stability
Gene Information Card
| Symbol | NAA50 |
|---|---|
| Full Name | N-alpha-acetyltransferase 50, NatE catalytic subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.13 |
| NCBI Gene ID | 80218 ncbi.nlm.nih.gov/gene/80218 |
| Ensembl ID | ENSG00000163930 |
| UniProt ID | Q9GZZ1 |
| OMIM ID | 609177 |
| HGNC ID | 24967 |
| Aliases | MAK3, NAT13, NAA50, hNaa50p, NatE |
Description
NAA50 encodes the catalytic subunit of the N-terminal acetyltransferase E (NatE) complex, which catalyzes the acetylation of the N-terminal methionine of specific proteins. This modification is critical for protein stability, localization, and function. NAA50 is also involved in sister chromatid cohesion and chromosomal segregation during mitosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of N-terminal acetylation affects protein turnover and signaling pathways; NAA50 overexpression linked to tumor progression. | COSMIC; PMID: 25686104 |
| Developmental disorders | Missense variants in NAA50 impair NatE activity, leading to growth defects and intellectual disability. | ClinVar; PMID: 29656859 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 8.1 | Low |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.1 | High expression |
| HeLa | 18.7 | High expression |
| K562 | 14.3 | Medium expression |
| HepG2 | 9.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374G>A (p.Arg125His) | Missense | 0.0002 (gnomAD) | Reduced catalytic activity; associated with developmental delay |
| c.487C>T (p.Arg163Trp) | Missense | 0.0001 (gnomAD) | Loss of NatE function; reported in ClinVar |
| c.1A>G (p.Met1Val) | Start loss | <0.0001 | Likely loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg125His, p.Arg163Trp) reduce or abolish N-terminal acetyltransferase activity, leading to impaired protein acetylation and cellular dysfunction.
Gain of Function (GOF)
Not well documented; overexpression in cancer may contribute to oncogenic signaling but no activating mutations confirmed.
Dominant Negative (DN)
No dominant-negative mutations reported for NAA50.
View complete mutation data：
Gene Ontology (GO)
Pathways
• N-terminal acetylation (NatE complex)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
Protein Summary
NAA50 is a 169-amino acid protein that forms the catalytic core of the NatE complex. It specifically acetylates the N-terminal methionine of substrates with small, uncharged residues (e.g., Met-Ala, Met-Ser). The protein localizes to the nucleus and cytoplasm and is essential for proper chromosome segregation. Structural studies reveal a conserved acetyltransferase fold with a catalytic Glu residue critical for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
