N-Acetyltransferase 1

Alternative Names

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

Associated Diseases

Bladder Cancer
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OMIM Number

108345

NCBI Gene ID

9

Uniprot ID

P18440

Length

53,228 bases

No. of Exons

11

No. of isoforms

1

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
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NAT1*14ALebanonNC_000008.11:g.[18222607G>A;18223135A=;g.57674A=]Risk factor, Uncertain SignificanceBladder CancerNG_012245.2:g.[57146G>A;57674A=;57681A=]; NAT1*14A4986782 1057126 15561
NAT1*14BLebanonNC_000008.11:g.18222607G>AUncertain SignificanceNG_012245.2:g.57146G>A; NM_000662.8:c.560G>A; NP_000653.3:p.Arg187Gln4986782
NAT1*15LebanonNC_000008.11:g.18222606C>TNG_012245.2:g.57145C>T; NM_000662.8:c.559C>T; NP_000653.3:p.Arg187Ter5030839
NAT1*3LebanonNC_000008.11:g.18223142A=Uncertain SignificanceNG_012245.2:g.57681A=; NM_000662.8:c.*222=15561
NM_000662.7:c.*215A=LebanonNC_000008.11:g.18223135A=Uncertain SignificanceNG_012245.2:g.57674A=; NM_000662.7:c.*215A=1057126

Other Reports

Lebanon

 

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