NAA35
N-alpha-acetyltransferase 35, NatC auxiliary subunit
Gene Information Card
| Symbol | NAA35 |
|---|---|
| Full Name | N-alpha-acetyltransferase 35, NatC auxiliary subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 9q21.33 |
| NCBI Gene ID | 60560 ncbi.nlm.nih.gov/gene/60560 |
| Ensembl ID | ENSG00000135069 |
| UniProt ID | Q5VZE5 |
| OMIM ID | 610177 |
| HGNC ID | 25931 |
| Aliases | MAK10, FLJ12529, FLJ13236, bA255A11.2 |
Description
NAA35 encodes the auxiliary subunit of the N-terminal acetyltransferase C (NatC) complex, which catalyzes N-terminal acetylation of proteins with Met-Leu, Met-Phe, or Met-Ile start sequences. This modification is critical for protein stability, localization, and function. NAA35 is essential for NatC complex integrity and activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy | Loss-of-function mutations in NAA35 impair NatC activity, leading to defective N-terminal acetylation and neuronal dysfunction. | PMID: 31618753 |
| Intellectual disability | Biallelic NAA35 variants associated with global developmental delay and intellectual disability. | PMID: 31618753 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Kidney | 8.9 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression |
| HeLa | 11.7 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1096C>T (p.Arg366*) | Nonsense | Rare | Loss of function; truncation of NAA35 |
| c.1483G>A (p.Gly495Arg) | Missense | Rare | Impaired NatC complex assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated or absent NAA35 protein, reducing NatC activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • peptide alpha-N-acetyltransferase activity (GO:0004596) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • N-terminal protein amino acid acetylation (GO:0006474) |
| • NatC complex (GO:0031418) |
Pathways
• N-terminal acetylation (NatC complex)
Protein Summary
NAA35 is a 769-amino acid protein that serves as the auxiliary subunit of the NatC complex. It stabilizes the catalytic subunit NAA30 and is required for substrate recognition. The protein contains WD40 repeats and localizes to both cytoplasm and nucleus. NAA35 is highly conserved across eukaryotes.
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