NAA30
N-alpha-acetyltransferase 30, NatC catalytic subunit
Gene Information Card
| Symbol | NAA30 |
|---|---|
| Full Name | N-alpha-acetyltransferase 30, NatC catalytic subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 14q23.1 |
| NCBI Gene ID | 122830 ncbi.nlm.nih.gov/gene/122830 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q147X3 |
| OMIM ID | 614127 |
| HGNC ID | 20144 |
| Aliases | MAK3, NAT12, NARG1, NAA30 |
Description
NAA30 (N-alpha-acetyltransferase 30, NatC catalytic subunit) encodes the catalytic subunit of the NatC N-terminal acetyltransferase complex, which acetylates the N-terminal methionine of proteins with Met-Leu, Met-Phe, or Met-Ile starts. This modification is critical for protein stability, localization, and function. NAA30 is involved in cell cycle regulation, apoptosis, and development. Mutations and altered expression have been linked to cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered NAA30 expression may disrupt NatC-mediated acetylation of oncoproteins or tumor suppressors, affecting cell proliferation and survival. | COSMIC; PubMed studies |
| Developmental disorders | Loss-of-function mutations in NAA30 are associated with syndromic intellectual disability and microcephaly. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| K562 | 6.5 | Leukemia cells |
| A549 | 5.9 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Likely loss of start codon, affecting translation |
| c.256C>T (p.Arg86Trp) | missense | <0.1% | Unknown significance; reported in ClinVar |
| c.1003C>T (p.Arg335*) | nonsense | <0.1% | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the catalytic domain lead to loss of NatC acetyltransferase activity.
Gain of Function (GOF)
Not reported for NAA30.
Dominant Negative (DN)
Not reported for NAA30.
View complete mutation data：
Gene Ontology (GO)
| • peptide alpha-N-acetyltransferase activity (GO:0004596) | • N-terminal protein amino acid acetylation (GO:0006474) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
| • cytoplasmic vesicle (GO:0031410) |
Pathways
• N-terminal acetylation of proteins (NatC complex)
• Ribosome biogenesis and translation
Protein Summary
NAA30 is the catalytic subunit of the NatC N-terminal acetyltransferase complex. It specifically acetylates the N-terminal methionine of proteins starting with Met-Leu, Met-Phe, or Met-Ile. The protein localizes to the cytoplasm and nucleus, and is involved in cell cycle progression, apoptosis, and development. NAA30 is expressed in multiple tissues, with highest levels in testis and brain.
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