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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NAA30
N-alpha-acetyltransferase 30, NatC catalytic subunit
Chromosome 14 · 14q22.3
NCBI Gene: 122830Ensembl: ENSG00000139977.15HGNC: HGNC:19844UniProt: B3KS28
29PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein-N-terminal amino-acid acetyltransferase activityprotein bindingcytoplasmcytosolneurodegenerative diseaseastrocytomaresponse to xenobiotic stimuluspoisoning
✦AI Summary

NAA30 encodes the catalytic subunit of the N-terminal acetyltransferase C (NatC) complex, which catalyzes acetylation of N-terminal methionine residues in proteins beginning with specific amino acid sequences including Met-Leu, Met-Ile, Met-Phe, Met-Trp, Met-Val, Met-Met, Met-His, and Met-Lys 1. The NatC complex, comprising NAA30 along with auxiliary subunits NAA35 and NAA38, is estimated to acetylate up to 20% of the human proteome co-translationally 2. This modification protects proteins from ubiquitination and degradation by the N-end rule pathway 2. NAA30 is essential for maintaining mitochondrial integrity and function, as its depletion causes loss of mitochondrial membrane potential and mitochondrial fragmentation 1. The protein shows evolutionary conservation from yeast to humans, with human NAA30 able to functionally replace yeast MAK3/NAA30 3. Disease relevance includes association with global developmental delay and tracheal cleft through loss-of-function variants 2, and overexpression in glioblastoma where it promotes tumor progression 4. NAA30 also shows upregulation in ovarian cancer, promoting cell proliferation, migration, and invasion through acetylation of downstream targets like ARPC1B 5.

Sources cited
1
NAA30 catalyzes acetylation of N-terminal methionine residues and is essential for mitochondrial integrity
PMID: 27694331
2
NatC complex acetylates up to 20% of human proteome and protects proteins from degradation
PMID: 37387332
3
Human NAA30 can functionally replace yeast MAK3/NAA30, showing evolutionary conservation
PMID: 33600573
4
NAA30 overexpression promotes glioblastoma tumor progression
PMID: 26292663
5
NAA30 upregulation in ovarian cancer promotes malignant phenotypes through ARPC1B acetylation
PMID: 41615304
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
astrocytomaOpen Targets
0.32Weak
response to xenobiotic stimulusOpen Targets
0.27Weak
poisoningOpen Targets
0.25Weak
response to stimulusOpen Targets
0.13Weak
adverse effectOpen Targets
0.12Weak
placenta praeviaOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
HydrocephalusOpen Targets
0.02Suggestive
Genu valgumOpen Targets
0.02Suggestive
Genu varumOpen Targets
0.02Suggestive
injuryOpen Targets
0.02Suggestive
gliomaOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
Global developmental delayOpen Targets
0.01Suggestive
metastatic melanomaOpen Targets
0.00Suggestive
craniofacial microsomiaOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_001011713.3(NAA30):c.452C>A (p.Pro151His)Likely pathogenic
Lethal multiystemic syndrome
☆☆☆☆→ Residue 151
View on ClinVar ↗
Related Genes
CPN2Shared pathway100%TELO2Shared pathway100%TSPAN1Shared pathway100%RPAP3Shared pathway100%TTI2Shared pathway100%ASDURFShared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
93%
Bone Marrow
86%
Liver
58%
Ovary
53%
Lung
34%
Gene Interaction Network
Click a node to explore
NAA30CPN2TELO2TSPAN1RPAP3TTI2ASDURF
PROTEIN STRUCTURE
Preparing viewer…
PDB7RB3 · 3.10 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.40Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.10–0.40]
RankingsWhere NAA30 stands among ~20K protein-coding genes
  • #12,184of 20,598
    Most Researched29
  • #5,270of 5,498
    Most Pathogenic Variants1
  • #2,002of 17,882
    Most Constrained (LOEUF)0.40 · top quartile
Genes detectedNAA30
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Quantitative proteomics combined independent PRM analysis reveals the mitochondrial and synaptic mechanism underlying norisoboldine's antidepressant effects.
PMID: 39358323
Transl Psychiatry · 2024
1.00
2
Human NAA30 can rescue yeast mak3∆ mutant growth phenotypes.
PMID: 33600573
Biosci Rep · 2021
0.90
3
N-Alpha-Acetyltransferase 30, Transcriptionally Regulated by NR2C2, Promotes Ovarian Cancer Progression by Mediating ARPC1B Acetylation.
PMID: 41615304
FASEB J · 2026
0.80
4
Expanded in vivo substrate profile of the yeast N-terminal acetyltransferase NatC.
PMID: 36567016
J Biol Chem · 2023
0.70
5
A nonsense variant in the N-terminal acetyltransferase NAA30 may be associated with global developmental delay and tracheal cleft.
PMID: 37387332
Am J Med Genet A · 2023
0.60