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Literature summary for 2.3.1.5 extracted from
- Arylamine N-acetyltransferases (2007), Expert. Opin. Drug Metab. Toxicol., 3, 169-184.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | C1095A SNP outside the NAT1 coding region is associated with increased homocysteine. The C1095A SNP is found most frequently in the NAT1 allele 1*10 and is shown to have increase NAT1 activity or to have no effect. C1095A SNP appears at increased frequency in bladder cancer and Alzheimer's disease | Homo sapiens |
| medicine | epidemiological studies of birth defects indicate that NAT1 polymorphisms are associated with problems of neural tube closure in spina bifida and with cleft lip and palate. Limp formation defects are also associated with NAT1 polymorphism | Homo sapiens |
| medicine | mutant alleles resulting in a decrease in NAT1 activity are found to be protective against spina bifida | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| E26D/L82M | in Mus spretus mice, slow acetylation is associated with an unstable Nat2 protein in which there are two amino acid changes Glu26Asp and Leu82Met | Mus spretus |
| additional information | effect of deleting NAT gene: slows growth, increases sensitivity to isoniazid, changes colony morphology, reduces the thickness of the cell wall of individual cells, decreases mycolic acid and complex lipids but not phosholipids, leads to intracellular killing of Mycobacterium bovis in macrophages | Mycobacterium tuberculosis variant bovis |
| additional information | Nat1 knockout mice do not show an obvious phenotype, apart from the expected reduction in arylamine metabolism | Mus musculus |
| additional information | Nat2 knockout mice do not show an obvious phenotype, apart from the expected reduction in arylamine metabolism. From analyses following breeding studies it appears that lack of NAT2 affects the sex ratios in offspring such that there is an excess of females among heterozygotes | Mus musculus |
| additional information | Nat3 knockout mice: lack of Nat3 has no effect in the metabolism of arylamines by mice | Mus musculus |
| additional information | overexpression of human NAT1 in mice results in serious developmental problems: deevelopmentally deleterious effects are observed in which embryos either do not survive or show malformations with a phenotype in which the tail is kinked, reminiscent of a spina-bifida phenotype | Homo sapiens |
| R64W | change from arginine to tryptophane at residue 64 seriously affects protein stability. Mutant is shown to cluster in cytosolic aggresomes and is rapidly ubiquitinylated and degraded | Mesocricetus auratus |
| R64W | SNP resulting in an inactive protein | Homo sapiens |
| R99I | Mus musculus A/J slow acetylating strain harbours a R99I mutation in the Nat2 gene, causing instability and degradation of the mutant protein | Mus musculus |
Inhibitors
| Inhibitors | Comment | Organism | Structure |
|---|---|---|---|
| hydrogen peroxide | inhibition is caused by oxidation at the active site cysteine | Homo sapiens |  |
| peroxynitrite | inhibition is caused by oxidation at the active site cysteine | Homo sapiens | |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| cytosol | - |
Mesocricetus auratus | 5829 | - |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Canis lupus familiaris | - |
no activity in Canis lupus familiaris | - |
| Homo sapiens | - |
- |
- |
| Mesocricetus auratus | - |
- |
- |
| Mus musculus | - |
- |
- |
| Mus spretus | - |
- |
- |
| Mycobacterium tuberculosis variant bovis | - |
NAT gene is essential for survival of Mycobacterium bovis | - |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| blastocyst | - |
Homo sapiens | - |
| cerebellar Purkinje cell | - |
Homo sapiens | - |
| erythrocyte | - |
Homo sapiens | - |
| lymphocyte | - |
Homo sapiens | - |
| additional information | NAT1 and NAT2 expression differ during development | Homo sapiens | - |
| neural tube | - |
Homo sapiens | - |
| placenta | expressed in placenta during the first trimester of embryonic development | Homo sapiens | - |
| spleen | transcript only detected in spleen | Mus musculus | - |
Specific Activity [micromol/min/mg]
| Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
|---|---|---|---|
| additional information | - |
low enzymatic activity as a recombinant protein | Mus musculus |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| acetyl-CoA + p-aminobenzoic acid | - |
Mus musculus | CoA + N-acetyl-p-aminobenzoic acid | - |
? | |
| acetyl-CoA + p-aminobenzoylglutamate | - |
Mus musculus | CoA + N-[(4-acetylamino)]benzoyl-L-glutamate | - |
? | |
| acetyl-CoA + p-aminobenzoylglutamate | - |
Homo sapiens | CoA + N-[(4-acetylamino)]benzoyl-L-glutamate | - |
? | |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| arylamine N-acetyltransferase | - |
Mycobacterium tuberculosis variant bovis |
| arylamine N-acetyltransferase 1 | - |
Mus musculus |
| arylamine N-acetyltransferase 1 | - |
Homo sapiens |
| arylamine N-acetyltransferase 1 | - |
Mesocricetus auratus |
| arylamine N-acetyltransferase 1 | - |
Mus spretus |
| NAT | - |
Mycobacterium tuberculosis variant bovis |
| NAT1 | - |
Mus musculus |
| NAT1 | - |
Homo sapiens |
| NAT1 | - |
Mesocricetus auratus |
| NAT2 | - |
Mus musculus |
| NAT2 | - |
Mus spretus |
| NAT2 | equivalent of human NAT1 in terms of tissue distribution, gene organization, C-terminal sequence analysis and substrate specificity | Mus musculus |
| NAT2 | equivalent of human NAT1 in terms of tissue distribution, gene organization, C-terminal sequence analysis and substrate specificity | Mus spretus |
| NAT3 | in mice there are three functional polymorphic NAT genes. NAT3 is highly polymorphic | Mus musculus |
Temperature Stability [°C]
| Temperature Stability Minimum [°C] | Temperature Stability Maximum [°C] | Comment | Organism |
|---|---|---|---|
| 40 | 47 | NAT enzymes unfold cooperatively with concomitant loss of activity at 40-47°C | Homo sapiens |
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