NAA35
protein-codingN-alpha-acetyltransferase 35, NatC auxiliary subunit, the group of N-alpha-acetyltransferase subunits
Gene summary
Predicted to enable transferase activity. Involved in negative regulation of apoptotic process. Located in cytosol. Part of NatC complex. [provided by Alliance of Genome Resources, Jun 2026]
- MAK10
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~84.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to NAA35 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_024635.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 22 | 3 | 28 | ||
| missense | 75 | 4 | 3 | 82 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 6 | 6 | ||||
| Total | 0 | 0 | 84 | 26 | 6 | 116 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_078911.3 | 22 | MANE Select | |
| Ensembl | ENSP00000354972.5 | 22 | MANE Select | |
| RefSeq | NP_001308810.1 | 22 | Standard | |
| RefSeq | NP_001308811.1 | 22 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Vesicle-mediated transport
- Membrane Trafficking
- Retrograde transport at the Trans-Golgi-Network
- Intra-Golgi and retrograde Golgi-to-ER traffic
Biological Process
- N-terminal protein amino acid acetylation
- N-terminal peptidyl-methionine acetylation
- negative regulation of apoptotic process
- smooth muscle cell proliferation
Molecular Function
- peptide alpha-N-acetyltransferase activity
- protein binding
Cellular Component
- cytoplasm
- polysome
- NatC complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000361671
- Coding exons
- 22
- Length
- 81153
- Individuals with no LoFs
- 125695
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 4
- Defined
- 125699
- p
- 0.0000159
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 3.66 | 189 | 394 | 0.480 | 0.0000199 | 4878 |
| Missense (PolyPhen) | 27 | 104.74 | 0.25779 | 1307 | ||
| Synonymous | -0.609 | 134 | 125 | 1.07 | 0.00000662 | 1237 |
| Loss of Function | 6.02 | 2 | 46.1 | 0.0434 | 0.00000248 | 545 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000029 | 0.000029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.000018 | 0.000018 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues. Involved in regulation of apoptosis and proliferation of smooth muscle cells. {ECO:0000269|PubMed:19398576}.;
Recessive Scores
- pRec
- 0.112
Intolerance Scores
- RVIS EVS
- -0.14
- RVIS percentile EVS
- 43.77
Essentials
- Essential (CRISPR)
- E
- Essential (CRISPR2)
- E
- Essential (gene trap)
- K
- Indispensability pred.
- N
- Indispensability score
- 0.341
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |