NAA40: N-alpha-acetyltransferase 40, NatD catalytic subunit
A key regulator of N-terminal acetylation of histone H4 and H2A, implicated in chromatin dynamics and cancer.
Gene Information Card
| Symbol | NAA40 |
|---|---|
| Full Name | N-alpha-acetyltransferase 40, NatD catalytic subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 79829 ncbi.nlm.nih.gov/gene/79829 |
| Ensembl ID | ENSG00000149380 |
| UniProt ID | Q9H5I5 |
| OMIM ID | 609217 |
| HGNC ID | 25831 |
| Aliases | NATD, NAT11, NAA40, N-acetyltransferase 11, NatD catalytic subunit |
Description
NAA40 (N-alpha-acetyltransferase 40) encodes the catalytic subunit of the NatD N-terminal acetyltransferase complex. NatD specifically acetylates the N-terminal serine residues of histones H4 and H2A, a modification that influences chromatin structure, gene expression, and cellular proliferation. The gene is located on chromosome 11q13.1 and is conserved across eukaryotes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | NAA40 overexpression promotes cell proliferation and migration via altered histone acetylation | PMID: 31092815 |
| Colorectal cancer | NAA40 knockdown reduces tumor growth and induces apoptosis in vitro and in vivo | PMID: 31591465 |
| Breast cancer | NAA40 expression correlates with poor prognosis; regulates H4 N-terminal acetylation | PMID: 32015546 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Colon | 8.3 | Low |
| Breast | 6.7 | Low |
| Testis | 15.2 | Medium |
| Brain | 4.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.8 | Hepatocellular carcinoma cell line |
| HCT116 | 9.2 | Colorectal carcinoma cell line |
| MCF7 | 7.5 | Breast cancer cell line |
| HEK293 | 11.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.371G>A (p.Arg124Gln) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.482C>T (p.Thr161Met) | Missense | 0.002% (gnomAD) | Predicted benign |
| c.1A>G (p.Met1?) | Start loss | 0.0005% (gnomAD) | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1?) are predicted to abolish protein translation, leading to loss of NatD activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported in NAA40.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for NAA40.
View complete mutation data：
Gene Ontology (GO)
Pathways
• N-terminal acetylation of histones H4 and H2A
• Chromatin organization
Protein Summary
NAA40 encodes the 235-amino acid catalytic subunit of the NatD complex. The protein contains an N-acetyltransferase domain and specifically transfers an acetyl group from acetyl-CoA to the N-terminal serine of histone H4 and H2A. This modification is critical for proper chromatin assembly, transcriptional regulation, and cell cycle progression. NAA40 is overexpressed in several cancers and is considered a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NAA40 Knockout HEK293 Cell Line | EDJ-KQ14357 | Human | 79829 | Details Get a Quote |
| NAA40 Knockout A-549 Cell Line | EDJ-KQ44480 | Human | 79829 | Details Get a Quote |
| NAA40 Knockout HCT 116 Cell Line | EDJ-KQ44481 | Human | 79829 | Details Get a Quote |
| NAA40 Knockout HeLa Cell Line | EDJ-KQ44482 | Human | 79829 | Details Get a Quote |
