Homo sapiens N-acetyltransferase 1 (arylamine N-acetyltransferase) (NAT1), transcript variant 5, mRNA.
| RefSeq Version | NM_000662.5, 237649115 |
| Length | 1815 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens N-acetyltransferase 1 (arylamine N-acetyltransferase) (NAT1), transcript variant 5, mRNA. |
| Product | arylamine N-acetyltransferase 1 isoform a |
| Comment | Summary: This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human geneome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]. Transcript Variant: This variant (5) lacks two alternate exons in the 5' UTR, compared to variant 1, and is the predominant transcript. This variant is transcribed from a promoter 11.8 kb upstream of the coding exon known as the P1, promoter 2, or NATb promoter. Variants 1-6 and 9 all encode the same isoform (a). |
| RefSeq | NP_000653.3 |
| CDS | 158..1030 | Exon (1) | 1..72 | Exon (2) | 1..72 | Exon (3) | 73..151 | Exon (4) | 152..1799 |
| Translation | MDIEAYLERIGYKKSRNKLDLETLTDILQHQIRAVPFENLNIHCGDAMDLGLEAIFDQVV
RRNRGGWCLQVNHLLYWALTTIGFETTMLGGYVYSTPAKKYSTGMIHLLLQVTIDGRNYI
VDAGFGRSYQMWQPLELISGKDQPQVPCVFRLTEENGFWYLDQIRREQYIPNEEFLHSDL
LEDSKYRKIYSFTLKPRTIEDFESMNTYLQTSPSSVFTSKSFCSLQTPDGVHCLVGFTLT
HRRFNYKDNTDLIEFKTLSEEEIEKVLKNIFNISLQRKLVPKHGDRFFTI
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| Gene Symbol | NAT1 |
| Gene Synonym | AAC1; MNAT; NAT-1; NATI |
| Chromosome | 8 |
| Locus Map | 8p22 |
| All Transcripts | NM_000662 , NM_001160179 , NM_001160170 , NM_001160171 , NM_001160172 , NM_001160173 , NM_001160174 , NM_001160175 , NM_001160176 |
| Title | Lack of association of the N-acetyltransferase NAT1*10 allele with prostate cancer incidence, grade, or stage among smokers in Finland . |
| Author | Kidd,L.R., Hein,D.W., Woodson,K., Taylor,P.R., Albanes,D., Virtamo,J. and Tangrea,J.A. |
| Journal | Biochem. Genet. 49 (1-2), 73-82 (2011) |
| Title | Carcinogen metabolism, cigarette smoking, and breast cancer risk: a Bayes model averaging approach . |
| Author | Stephenson,N., Beckmann,L. and Chang-Claude,J. |
| Journal | Epidemiol Perspect Innov 7, 10 (2010) |
| Title | Arylamine N-acetyltransferase I . |
| Author | Minchin,R.F., Hanna,P.E., Dupret,J.M., Wagner,C.R., Rodrigues-Lima,F. and Butcher,N.J. |
| Journal | Int. J. Biochem. Cell Biol. 39 (11), 1999-2005 (2007) |
| Title | Functional properties of an alternative, tissue-specific promoter for human arylamine N-acetyltransferase 1 . |
| Author | Barker,D.F., Husain,A., Neale,J.R., Martini,B.D., Zhang,X., Doll,M.A., States,J.C. and Hein,D.W. |
| Journal | Pharmacogenet. Genomics 16 (7), 515-525 (2006) |
| Title | Structural analysis of the genes for human arylamine N-acetyltransferases and characterisation of alternative transcripts . |
| Author | Boukouvala,S. and Sim,E. |
| Journal | Basic Clin. Pharmacol. Toxicol. 96 (5), 343-351 (2005) |
| Title | Identification of the major promoter and non-coding exons of the human arylamine N-acetyltransferase 1 gene (NAT1) . |
| Author | Husain,A., Barker,D.F., States,J.C., Doll,M.A. and Hein,D.W. |
| Journal | Pharmacogenetics 14 (7), 397-406 (2004) |
| Title | Identification of a minimal promoter sequence for the human N-acetyltransferase Type I gene that binds AP-1 (activator protein 1) and YY-1 (Yin and Yang 1) . |
| Author | Butcher,N.J., Arulpragasam,A., Pope,C. and Minchin,R.F. |
| Journal | Biochem. J. 376 (PT 2), 441-448 (2003) |
| Title | Site-directed mutagenesis of recombinant human arylamine N-acetyltransferase expressed in Escherichia coli. Evidence for direct involvement of Cys68 in the catalytic mechanism of polymorphic human NAT2 . |
| Author | Dupret,J.M. and Grant,D.M. |
| Journal | J. Biol. Chem. 267 (11), 7381-7385 (1992) |
| Title | Human arylamine N-acetyltransferase genes: isolation, chromosomal localization, and functional expression . |
| Author | Blum,M., Grant,D.M., McBride,W., Heim,M. and Meyer,U.A. |
| Journal | DNA Cell Biol. 9 (3), 193-203 (1990) |
| Title | Cloning and expression of cDNAs for polymorphic and monomorphic arylamine N-acetyltransferases from human liver . |
| Author | Ohsako,S. and Deguchi,T. |
| Journal | J. Biol. Chem. 265 (8), 4630-4634 (1990) |
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