NAA38: N-alpha-acetyltransferase 38, NatC auxiliary subunit
A core component of the NatC N-terminal acetyltransferase complex involved in protein stability and cell cycle regulation
Gene Information Card
| Symbol | NAA38 |
|---|---|
| Full Name | N-alpha-acetyltransferase 38, NatC auxiliary subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 84312 ncbi.nlm.nih.gov/gene/84312 |
| Ensembl ID | ENSG00000108557 |
| UniProt ID | Q9BRA0 |
| OMIM ID | 609177 |
| HGNC ID | 25932 |
| Aliases | LSM8, NAA38, hLSM8, MGC13170 |
Description
NAA38 encodes a component of the NatC N-terminal acetyltransferase complex, which catalyzes the acetylation of the N-terminal methionine of target proteins. The protein is also a member of the LSM (like Sm) family and is involved in RNA processing and spliceosome assembly. NAA38 is essential for cell viability and plays roles in cell cycle progression, protein stability, and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression and mutations in NAA38 may disrupt NatC-mediated acetylation, affecting protein stability and cell cycle control. | COSMIC; TCGA |
| Colorectal cancer | Somatic mutations and copy number alterations observed in colorectal tumors. | COSMIC; cBioPortal |
| Breast cancer | NAA38 overexpression reported in breast cancer cell lines and tissues. | UniProt; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Medium |
| Brain | 6.1 | Low |
| Liver | 5.3 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 9.3 | Embryonic kidney cell line |
| MCF7 | 11.2 | Breast cancer cell line |
| A549 | 7.8 | Lung 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 | <0.1% | Likely loss of start codon; predicted loss of function |
| c.124C>T (p.Arg42Cys) | Missense | <0.1% | Unknown significance |
| c.205_206insA (p.Thr69Asnfs*2) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in NAA38 are predicted to cause loss of function, impairing NatC complex activity.
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)
| • protein acetylation (GO:0006473) | • mRNA splicing (GO:0000398) |
| • nucleus (GO:0005634) | • cytosol (GO:0005829) |
| • peptide alpha-N-acetyltransferase activity (GO:0004596) |
Pathways
• REACT:170660 - N-terminal acetylation of proteins
• REACT:170661 - NatC complex
• REACT:170662 - Spliceosome
Protein Summary
NAA38 is a 103-amino-acid protein that functions as an auxiliary subunit of the NatC N-terminal acetyltransferase complex. It contains an LSM domain typical of Sm-like proteins involved in RNA processing. The protein localizes to the nucleus and cytosol and is ubiquitously expressed. NAA38 is required for the acetylation of specific substrates such as actin and tropomyosin, influencing cytoskeletal dynamics and cell proliferation.
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