N-Acetyltransferase 1 (NAT1)

AAC1; Arylamine N-Acetyltransferase; Arylamide acetylase 1; Monomorphic arylamine N-acetyltransferase

SPN	Q614
HGNC	7645
MGI	109201
PubMed	11032820
RGD	70492
UniProt	P18440
Wiki	NAT1

NAT1 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. NAT2 gene is the site of the polymorphism that was first identified through 'isoniazid inactivation' and is also known as 'acetylator phenotype.' The NAT1 gene is responsible for the N-acetylation of certain arylamine drugs such as p-aminosalicylic acid and shows no variability, i.e., is monomorphic.

Reference

"Human arylamine N-acetyltransferase genes: isolation, chromosomal localization, and functional expression."
DNA Cell Biol. 9:193-203(1990) [PubMed] [Europe PMC] [Abstract]

"Cloning and expression of cDNAs for polymorphic and monomorphic arylamine N-acetyltransferases from human liver."
J. Biol. Chem. 265:4630-4634(1990) [PubMed] [Europe PMC] [Abstract]

"Structural heterogeneity of Caucasian N-acetyltransferase at the NAT1 gene locus."
Arch. Biochem. Biophys. 301:71-76(1993) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel allele at the human NAT1 acetyltransferase locus."
Biochem. Biophys. Res. Commun. 233:584-591(1997) [PubMed] [Europe PMC] [Abstract]

"Functional polymorphism of the human arylamine N-acetyltransferase type 1 gene caused by C190T and G560A mutations."
Pharmacogenetics 8:67-72(1998) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of the N-acetyltransferase 1 gene (NAT1*) using polymerase chain reaction-restriction fragment-single strand conformation polymorphism assay."
Pharmacogenetics 10:293-300(2000) [PubMed] [Europe PMC] [Abstract]

"Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes."
Am. J. Hum. Genet. 78:423-436(2006) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Structure and restriction fragment length polymorphism of genes for human liver arylamine N-acetyltransferases."
Biochem. Biophys. Res. Commun. 177:1252-1257(1991) [PubMed] [Europe PMC] [Abstract]

"Study of the role of the highly conserved residues Arg9 and Arg64 in the catalytic function of human N-acetyltransferases NAT1 and NAT2 by site-directed mutagenesis."
Biochem. J. 323:207-215(1997) [PubMed] [Europe PMC] [Abstract]

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]

"Structural basis of substrate-binding specificity of human arylamine N-acetyltransferases."
J. Biol. Chem. 282:30189-30197(2007) [PubMed] [Europe PMC] [Abstract]

"Identification and characterization of variant alleles of human acetyltransferase NAT1 with defective function using p-aminosalicylate as an in-vivo and in-vitro probe."
Pharmacogenetics 8:55-66(1998) [PubMed] [Europe PMC] [Abstract]

"Variants of N-acetyltransferase NAT1 and a case-control study of colorectal adenomas."
Pharmacogenetics 8:269-281(1998) [PubMed] [Europe PMC] [Abstract]