NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit)
A key regulator of N-terminal acetylation, implicated in Ogden syndrome and various cancers.
Gene Information Card
| Symbol | NAA10 |
|---|---|
| Full Name | N-alpha-acetyltransferase 10, NatA catalytic subunit |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 8260 ncbi.nlm.nih.gov/gene/8260 |
| Ensembl ID | ENSG00000102030 |
| UniProt ID | P41227 |
| OMIM ID | 300013 |
| HGNC ID | 7591 |
| Aliases | ARD1, ARD1A, ARD1P, hARD1, NAA10A, TE2 |
Description
NAA10 encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex, which catalyzes the co-translational acetylation of the alpha-amino group of nascent polypeptides. This modification is critical for protein stability, folding, and function. NAA10 is located on the X chromosome and is ubiquitously expressed. Mutations in NAA10 cause Ogden syndrome (X-linked intellectual disability, dysmorphism, and cardiac anomalies) and are implicated in various cancers, including breast, lung, and colorectal cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ogden syndrome | Loss-of-function mutations in NAA10 impair NatA activity, leading to global N-terminal hypoacetylation and multisystem developmental defects. | ClinVar, OMIM |
| Breast cancer | Overexpression of NAA10 promotes cell proliferation and invasion; knockdown reduces tumor growth. | COSMIC, PubMed |
| Lung cancer | NAA10 upregulation correlates with poor prognosis; it stabilizes oncoproteins via acetylation. | COSMIC, PubMed |
| Colorectal cancer | NAA10 mutations and altered expression linked to tumor progression and metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 8.7 | Low |
| Kidney | 11.3 | Medium |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.8 | High expression in cervical cancer line |
| A549 | 12.3 | Lung adenocarcinoma line |
| MCF7 | 10.5 | Breast cancer line |
| HEK293 | 9.2 | Embryonic kidney line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109T>C (p.Ser37Pro) | Missense | Rare | Loss of NatA catalytic activity; causes Ogden syndrome |
| c.346G>A (p.Val116Met) | Missense | Rare | Reduced acetylation; associated with intellectual disability |
| c.128A>G (p.Tyr43Cys) | Missense | Rare | Impaired complex formation; Ogden syndrome |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Ser37Pro) reduce or abolish NatA catalytic activity, leading to global N-terminal hypoacetylation.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as a gain-of-function by stabilizing oncoproteins.
Dominant Negative (DN)
Some NAA10 mutations may interfere with NatA complex assembly, exerting a dominant-negative effect on the wild-type allele.
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) |
| • cytosol (GO:0005829) |
Pathways
• N-terminal acetylation of proteins (NatA complex)
• Regulation of apoptosis and cell cycle
Protein Summary
NAA10 (hARD1) is a 235-amino acid protein that forms the catalytic core of the NatA complex together with NAA15. It acetylates the N-terminus of proteins after removal of the initiator methionine, affecting protein stability, localization, and interaction. NAA10 also has non-catalytic roles in transcriptional regulation and DNA repair. Its dysregulation is linked to developmental disorders and cancer.
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