NAA15: N-alpha-acetyltransferase 15, NatA auxiliary subunit
A core component of the NatA acetyltransferase complex involved in co-translational N-terminal acetylation, neurodevelopmental disorders, and cancer.
Gene Information Card
| Symbol | NAA15 |
|---|---|
| Full Name | N-alpha-acetyltransferase 15, NatA auxiliary subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.1 |
| NCBI Gene ID | 80155 ncbi.nlm.nih.gov/gene/80155 |
| Ensembl ID | ENSG00000164134 |
| UniProt ID | Q9BXJ9 |
| OMIM ID | 608000 |
| HGNC ID | 30371 |
| Aliases | NAT15, NARG1, NATH, TBDN100 |
Description
NAA15 encodes the auxiliary subunit of the N-terminal acetyltransferase A (NatA) complex, which catalyzes co-translational acetylation of approximately 40% of human proteins. The protein interacts with the catalytic subunit NAA10 to form the active NatA complex. NAA15 is essential for embryonic development, cell proliferation, and neuronal function. Mutations in NAA15 are associated with autosomal dominant intellectual disability, developmental delay, and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder, autosomal dominant 50 (MRD50) | Loss-of-function mutations in NAA15 impair NatA activity, disrupting N-terminal acetylation of key neuronal proteins, leading to neurodevelopmental phenotypes. | OMIM #617787; ClinVar; PMID: 29706646 |
| Colorectal cancer | Overexpression of NAA15 promotes cell proliferation and tumor growth; knockdown reduces tumorigenicity in vitro and in vivo. | COSMIC; PMID: 25605248 |
| Breast cancer | NAA15 is amplified and overexpressed in breast cancer, correlating with poor prognosis; NatA activity supports oncogenic signaling. | COSMIC; PMID: 29367642 |
| Acute myeloid leukemia (AML) | NAA15 is recurrently mutated in AML, with potential loss-of-function effects contributing to leukemogenesis. | COSMIC; PMID: 23598414 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 10.5 | Medium |
| Kidney | 11.3 | Medium |
| Testis | 18.7 | High |
| Pancreas | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Embryonic kidney cells; high expression |
| HeLa | 12.3 | Cervical cancer cells; moderate expression |
| K562 | 10.8 | Leukemia cells; moderate expression |
| MCF7 | 16.1 | Breast cancer cells; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109C>T (p.Arg37*) | Nonsense | Rare | Loss-of-function; truncation of NAA15; associated with intellectual disability |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Likely loss-of-function; disrupts NatA complex assembly |
| c.1285C>T (p.Arg429Trp) | Missense | Rare | Unknown significance; reported in neurodevelopmental disorder |
| c.1741_1742del (p.Gln581Valfs*2) | Frameshift | Rare | Loss-of-function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Most reported NAA15 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to haploinsufficiency and reduced NatA activity.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for NAA15.
Dominant Negative (DN)
Dominant-negative effects are not established; loss-of-function via haploinsufficiency is the primary mechanism.
View complete mutation data：
Gene Ontology (GO)
Pathways
• N-terminal acetylation (NatA complex)
• Ribosome (co-translational modification)
Protein Summary
NAA15 is a 1012-amino-acid protein that serves as the auxiliary subunit of the NatA complex. It binds to NAA10 and stabilizes the complex, directing substrate specificity. The protein contains tetratricopeptide repeat (TPR) domains that mediate protein-protein interactions. NAA15 is ubiquitously expressed, with highest levels in testis and brain. It localizes to the cytoplasm and nucleus, and is involved in cell cycle regulation, apoptosis, and neuronal development.
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