NAA20
N-alpha-acetyltransferase 20, NatB catalytic subunit
Gene Information Card
| Symbol | NAA20 |
|---|---|
| Full Name | N-alpha-acetyltransferase 20, NatB catalytic subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 20p11.23 |
| NCBI Gene ID | 80026 ncbi.nlm.nih.gov/gene/80026 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9BSU3 |
| OMIM ID | 610834 |
| HGNC ID | 15908 |
| Aliases | NAT5, NAT13, NAA20, hNAT5, hNAT13 |
Description
NAA20 encodes the catalytic subunit of the N-terminal acetyltransferase B (NatB) complex, which catalyzes the co-translational acetylation of the N-terminal methionine of proteins starting with Met-Asp, Met-Glu, or Met-Asn. This modification is critical for protein stability, localization, and function. NAA20 is ubiquitously expressed and plays roles in cell cycle regulation, apoptosis, and cytoskeletal organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered NAA20 expression may disrupt acetylation of oncoproteins and tumor suppressors, affecting cell proliferation and survival. | COSMIC; PMID: 25344691 |
| Neurodevelopmental disorders | Mutations in NAA20 have been associated with intellectual disability and developmental delay, likely due to impaired acetylation of neuronal proteins. | ClinVar; PMID: 31036916 |
| Microcephaly | Loss-of-function variants in NAA20 are linked to primary microcephaly, possibly through defective acetylation of proteins involved in centrosome function. | OMIM #610834; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | High |
| Brain | 12.3 | Medium |
| Liver | 10.1 | Medium |
| Heart | 8.7 | Medium |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| K562 | 12.8 | Leukemia cell line |
| HEK293 | 11.5 | Embryonic kidney cell line |
| HepG2 | 9.3 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon, reduced protein expression |
| c.205C>T (p.Arg69Trp) | missense | <0.01% | Impaired catalytic activity, associated with neurodevelopmental disorder |
| c.346G>A (p.Gly116Arg) | missense | <0.01% | Reduced NatB complex stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg69Trp) reduce or abolish acetyltransferase activity, leading to decreased N-terminal acetylation of NatB substrates.
Gain of Function (GOF)
Not reported in NAA20.
Dominant Negative (DN)
Not reported in NAA20.
View complete mutation data：
Gene Ontology (GO)
Pathways
• N-terminal acetylation of proteins (NatB complex)
• Regulation of apoptosis
• Cell cycle
Protein Summary
NAA20 is the catalytic subunit of the NatB complex, which co-translationally acetylates the N-terminal methionine of proteins with specific N-terminal sequences. This modification influences protein folding, stability, and interactions. NAA20 is essential for normal cell proliferation and development; mutations cause neurodevelopmental disorders and are implicated in cancer.
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