NAT1 (N-Acetyltransferase 1)
A key enzyme in xenobiotic metabolism and cancer susceptibility
Gene Information Card
| Symbol | NAT1 |
|---|---|
| Full Name | N-Acetyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p22 |
| NCBI Gene ID | 9 ncbi.nlm.nih.gov/gene/9 |
| Ensembl ID | ENSG00000171428 |
| UniProt ID | P18440 |
| OMIM ID | 108345 |
| HGNC ID | 7645 |
| Aliases | AAC1, NAT-1, NATI |
Description
The NAT1 gene encodes N-acetyltransferase 1, an enzyme that catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates. This activity is important for the detoxification of xenobiotics and the activation of certain carcinogens. NAT1 is expressed in a wide range of tissues and exhibits genetic polymorphisms that influence individual susceptibility to drug toxicity and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bladder Cancer | NAT1 polymorphisms alter the balance between detoxification and activation of arylamine carcinogens, affecting cancer risk. | ClinVar, NCBI |
| Colorectal Cancer | NAT1 variants may modulate the metabolism of heterocyclic amines from cooked meat, influencing colorectal carcinogenesis. | ClinVar, NCBI |
| Drug-Induced Toxicity | Reduced NAT1 activity can lead to accumulation of toxic metabolites from drugs such as sulfonamides. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small Intestine | 15.2 | High |
| Colon | 10.1 | Medium |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| Caco-2 | 11.5 | Colorectal adenocarcinoma cell line |
| A549 | 7.2 | Lung carcinoma cell line |
| MCF7 | 9.8 | Breast adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.559C>T (p.Arg187Trp) | Missense | 0.5% | Reduced enzyme activity |
| c.752A>G (p.Gln251Arg) | Missense | 1.2% | Altered substrate specificity |
| c.445G>A (p.Gly149Ser) | Missense | 0.3% | Decreased acetylation capacity |
Mutation functional classification
Loss of Function (LOF)
c.559C>T (p.Arg187Trp) and c.445G>A (p.Gly149Ser) reduce or abolish NAT1 enzymatic activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented.
View complete mutation data：
Gene Ontology (GO)
| • N-acetyltransferase activity | • arylamine N-acetyltransferase activity |
| • xenobiotic metabolic process | • cellular response to xenobiotic stimulus |
Pathways
• Arylamine metabolism
• Drug metabolism - other enzymes
• Metabolism of xenobiotics by cytochrome P450
Protein Summary
NAT1 is a 290-amino acid cytosolic enzyme that transfers an acetyl group from acetyl-CoA to the nitrogen or oxygen of arylamines and heterocyclic amines. It plays a dual role in detoxification and bioactivation of xenobiotics. The protein structure includes a conserved catalytic triad (Cys-His-Asp) essential for acetyltransferase activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NAT1 Knockout HEK293 Cell Line | EDJ-KQ2341 | Human | 9 | Details Get a Quote |
| GNAT1 Knockout HEK293 Cell Line | EDJ-KQ4733 | Human | 2779 | Details Get a Quote |
| GNPNAT1 Knockout HEK293 Cell Line | EDJ-KQ13618 | Human | 64841 | Details Get a Quote |
| NAT14 Knockout HEK293 Cell Line | EDJ-KQ14376 | Human | 57106 | Details Get a Quote |
| NAT16 Knockout HEK293 Cell Line | EDJ-KQ14377 | Human | 375607 | Details Get a Quote |
| NMNAT1 Knockout HEK293 Cell Line | EDJ-KQ14445 | Human | 64802 | Details Get a Quote |
| NAT14 Knockout A-549 Cell Line | EDJ-KQ44521 | Human | 57106 | Details Get a Quote |
| NAT14 Knockout HCT 116 Cell Line | EDJ-KQ44522 | Human | 57106 | Details Get a Quote |
| NAT14 Knockout HeLa Cell Line | EDJ-KQ44523 | Human | 57106 | Details Get a Quote |
| NMNAT1 Knockout A-549 Cell Line | EDJ-KQ44664 | Human | 64802 | Details Get a Quote |
| NMNAT1 Knockout HeLa Cell Line | EDJ-KQ44665 | Human | 64802 | Details Get a Quote |
| NAT1 Knockout A-549 Cell Line | EDJ-KQ22758 | Human | 9 | Details Get a Quote |
| NAT1 Knockout HCT 116 Cell Line | EDJ-KQ22759 | Human | 9 | Details Get a Quote |
| NAT1 Knockout HeLa Cell Line | EDJ-KQ22760 | Human | 9 | Details Get a Quote |
| NMNAT1 Knockout HCT 116 Cell Line | EDJ-KQ26280 | Human | 64802 | Details Get a Quote |
Displaying Records 1 To 15 Of 28 Records
