NAT8 (N-Acetyltransferase 8)
Gene encoding a Golgi-localized acetyltransferase involved in protein glycosylation and kidney function
Gene Information Card
| Symbol | NAT8 |
|---|---|
| Full Name | N-Acetyltransferase 8 (Putative) |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 9027 ncbi.nlm.nih.gov/gene/9027 |
| Ensembl ID | ENSG00000144036 |
| UniProt ID | Q9UHE5 |
| OMIM ID | 608331 |
| HGNC ID | 17967 |
| Aliases | GLA, TSC1, NAT8A, NAT-8 |
Description
NAT8 encodes a Golgi-localized N-acetyltransferase that catalyzes the transfer of an acetyl group from acetyl-CoA to acceptor substrates, playing a role in protein glycosylation and cellular metabolism. The gene is predominantly expressed in kidney and liver, and variants have been associated with chronic kidney disease and hypertension.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic Kidney Disease | Altered NAT8 expression affects acetylation of proteins involved in renal function | GWAS studies (PMID: 20383146) |
| Hypertension | NAT8 variants linked to blood pressure regulation via renal acetylation pathways | GWAS (PMID: 21909115) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Small Intestine | 4.1 | Low |
| Pancreas | 3.2 | Low |
| Lung | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HepG2 | 9.8 | Moderate expression |
| A549 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs13538 | SNP | 0.25 (G allele) | Associated with reduced NAT8 expression and increased kidney disease risk |
| rs4821480 | SNP | 0.30 (T allele) | Linked to hypertension in European populations |
Mutation functional classification
Loss of Function (LOF)
rs13538 (G allele) reduces NAT8 enzymatic activity, impairing acetylation of renal substrates.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • N-acetyltransferase activity (GO:0008080) | • Golgi apparatus (GO:0005794) |
| • protein glycosylation (GO:0006486) | • cytoplasm (GO:0005737) |
Pathways
• Acetyl-CoA metabolic process
• Protein acetylation
Protein Summary
NAT8 is a 237-amino acid protein localized to the Golgi apparatus. It belongs to the N-acetyltransferase family and uses acetyl-CoA to acetylate acceptor molecules, contributing to post-translational modification of proteins. The protein is highly expressed in kidney and liver, and its dysregulation is implicated in renal disease and blood pressure regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NAT8 Knockout HEK293 Cell Line | EDJ-KQ6433 | Human | 9027 | Details Get a Quote |
| NAT8L Knockout HEK293 Cell Line | EDJ-KQ14374 | Human | 339983 | Details Get a Quote |
| NAT8L Knockout A-549 Cell Line | EDJ-KQ44519 | Human | 339983 | Details Get a Quote |
| NAT8L Knockout HeLa Cell Line | EDJ-KQ44520 | Human | 339983 | Details Get a Quote |
| NAT8L Knockout HCT 116 Cell Line | EDJ-KQ43278 | Human | 339983 | Details Get a Quote |
| NAT8 Knockout HeLa Cell Line | EDJ-KQ55058 | Human | 9027 | Details Get a Quote |
| NAT8 Knockout A-549 Cell Line | EDJ-KQ63538 | Human | 9027 | Details Get a Quote |
| NAT8 Knockout HCT 116 Cell Line | EDJ-KQ72008 | Human | 9027 | Details Get a Quote |
