Human Gene NAT2 (ENST00000286479.4) from GENCODE V44
Description: Homo sapiens N-acetyltransferase 2 (NAT2), mRNA. (from RefSeq NM_000015) RefSeq Summary (NM_000015): This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [provided by RefSeq, Sep 2019]. Gencode Transcript: ENST00000286479.4 Gencode Gene: ENSG00000156006.5 Transcript (Including UTRs) Position: hg38 chr8:18,391,282-18,401,218 Size: 9,937 Total Exon Count: 2 Strand: + Coding Region Position: hg38 chr8:18,400,004-18,400,876 Size: 873 Coding Exon Count: 1
ID:ARY2_HUMAN DESCRIPTION: RecName: Full=Arylamine N-acetyltransferase 2; EC=2.3.1.5; AltName: Full=Arylamide acetylase 2; AltName: Full=N-acetyltransferase type 2; Short=NAT-2; AltName: Full=Polymorphic arylamine N-acetyltransferase; Short=PNAT; FUNCTION: Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens. CATALYTIC ACTIVITY: Acetyl-CoA + an arylamine = CoA + an N- acetylarylamine. SUBCELLULAR LOCATION: Cytoplasm. POLYMORPHISM: Polymorphisms in NAT2 are the cause of slow and fast acetylation phenotypes [MIM:243400] and influence drug therapy response and susceptibility to chemical toxicity or carcinogenicity. SIMILARITY: Belongs to the arylamine N-acetyltransferase family. SEQUENCE CAUTION: Sequence=AAK51711.1; Type=Frameshift; Positions=287; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NAT2ID41498ch8p22.html"; WEB RESOURCE: Name=NAT; Note=NAT alleles; URL="http://www.louisville.edu/medschool/pharmacology/NAT.html"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/nat2/"; WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=NAT2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P11245
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.