N-Acetyltransferase 1

Alternative Names

NAT1
Arylamide Acetylase 1
AAC1
Arylamine N-Acetyltransferase 1
Acetyl-CoA:Arylamine N-Acetyltransferase

Associated Diseases

Bladder Cancer

Back to search Result

OMIM Number

108345

NCBI Gene ID

Uniprot ID

P18440

Length

53,228 bases

No. of Exons

No. of isoforms

Protein Name

Arylamine N-acetyltransferase 1

Molecular Mass

33899 Da

Amino Acid Count

290

Genomic Location

chr8:18,170,462-18,223,689

Gene Map Locus

8p22

Description

NAT1 is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, 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. [From RefSeq]

Epidemiology in the Arab World

View Map

Lebanon

Variant Name	Country	Genomic Location	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP
NAT1*14A	Lebanon	NC_000008.11:g.[18222607G>A;18223135A=;g.57674A=]	Risk factor, Uncertain Significance	Bladder Cancer	NG_012245.2:g.[57146G>A;57674A=;57681A=]; NAT1*14A	4986782 1057126 15561
NAT1*14B	Lebanon	NC_000008.11:g.18222607G>A	Uncertain Significance		NG_012245.2:g.57146G>A; NM_000662.8:c.560G>A; NP_000653.3:p.Arg187Gln	4986782
NAT1*15	Lebanon	NC_000008.11:g.18222606C>T			NG_012245.2:g.57145C>T; NM_000662.8:c.559C>T; NP_000653.3:p.Arg187Ter	5030839
NAT1*3	Lebanon	NC_000008.11:g.18223142A=	Uncertain Significance		NG_012245.2:g.57681A=; NM_000662.8:c.*222=	15561
NM_000662.7:c.*215A=	Lebanon	NC_000008.11:g.18223135A=	Uncertain Significance		NG_012245.2:g.57674A=; NM_000662.7:c.*215A=	1057126

Download Table

Other Reports

Lebanon

External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT1

Contributors

Sami Bizzari: 18.07.2021
Asha Deepthi: 28.02.2021
Asha Deepthi: 23.02.2021
Asha Deepthi: 05.05.2020

Edit History

Sami Bizzari: 18.07.2021
Pratibha Nair: 16.05.2021
Asha Deepthi: 28.02.2021
Asha Deepthi: 23.02.2021
Asha Deepthi: 05.05.2020
Pratibha Nair: 30.10.2014