NAA80: N-alpha-acetyltransferase 80, NatH catalytic subunit
Gene encoding the catalytic subunit of the N-terminal acetyltransferase H complex, involved in actin N-terminal acetylation.
Gene Information Card
| Symbol | NAA80 |
|---|---|
| Full Name | N-alpha-acetyltransferase 80, NatH catalytic subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 24142 ncbi.nlm.nih.gov/gene/24142 |
| Ensembl ID | ENSG00000163823 |
| UniProt ID | Q93015 |
| OMIM ID | 610334 |
| HGNC ID | 24916 |
| Aliases | FUS2, NAT5, NAT13, hNAT5, hNAT13 |
Description
NAA80 encodes the catalytic subunit of the N-terminal acetyltransferase H (NatH) complex, which specifically acetylates the N-terminus of actin. This modification is critical for actin filament dynamics, cell migration, and cytoskeletal organization. NAA80 is ubiquitously expressed and its dysregulation has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered NAA80 expression may affect actin acetylation, impacting cell motility and invasion. | COSMIC; literature |
| Developmental delay / intellectual disability | Homozygous loss-of-function variants in NAA80 have been reported in patients with global developmental delay. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | Embryonic kidney cells |
| HeLa | 11.8 | Cervical cancer cells |
| K562 | 9.5 | Leukemia cells |
| A549 | 13.0 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.374G>A (p.Arg125Gln) | missense | <0.01% | Unknown; reported in ClinVar as VUS |
Mutation functional classification
Loss of Function (LOF)
Homozygous loss-of-function variants (e.g., start-loss) are associated with developmental delay.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • peptide alpha-N-acetyltransferase activity (GO:0004596) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • protein acetyltransferase complex (GO:0031248) |
| • N-terminal protein amino acid acetylation (GO:0006474) |
Pathways
• N-terminal acetylation of proteins
• Actin cytoskeleton regulation
Protein Summary
NAA80 (NatH catalytic subunit) is a 177-amino acid protein that forms a complex with NAA38 to specifically N-terminally acetylate actin. This modification is essential for proper actin filament assembly and cellular motility. The protein is localized in the cytoplasm and at the plasma membrane.
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