ARY2_HUMAN
ID ARY2_HUMAN Reviewed; 290 AA.
AC P11245; O43637; O60654; O60655; Q13146; Q16697; Q2MLE4; Q2MLF5; Q2MLG8;
AC Q2MLJ6; Q2MLK4; Q2MLK6; Q2MLN7; Q6LET4; Q86XS0; Q86XS1; Q96KY8; Q96T64;
AC Q96T65; Q9H220;
DT 01-JUL-1989, integrated into UniProtKB/Swiss-Prot.
DT 23-FEB-2022, sequence version 2.
DT 03-AUG-2022, entry version 192.
DE RecName: Full=Arylamine N-acetyltransferase 2;
DE EC=2.3.1.5;
DE AltName: Full=Arylamide acetylase 2;
DE AltName: Full=N-acetyltransferase type 2;
DE Short=NAT-2;
DE AltName: Full=Polymorphic arylamine N-acetyltransferase;
DE Short=PNAT;
GN Name=NAT2; Synonyms=AAC2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LYS-268.
RX PubMed=2734109; DOI=10.1093/nar/17.10.3978;
RA Grant D.M., Blum M., Demierre A., Meyer U.A.;
RT "Nucleotide sequence of an intronless gene for a human arylamine N-
RT acetyltransferase related to polymorphic drug acetylation.";
RL Nucleic Acids Res. 17:3978-3978(1989).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LYS-268.
RX PubMed=2340091; DOI=10.1089/dna.1990.9.193;
RA Blum M., Grant D.M., McBride W., Heim M., Meyer U.A.;
RT "Human arylamine N-acetyltransferase genes: isolation, chromosomal
RT localization, and functional expression.";
RL DNA Cell Biol. 9:193-203(1990).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS LYS-268 AND GLU-286.
RC TISSUE=Liver;
RX PubMed=1968463; DOI=10.1016/s0021-9258(19)39609-7;
RA Ohsako S., Deguchi T.;
RT "Cloning and expression of cDNAs for polymorphic and monomorphic arylamine
RT N-acetyltransferases from human liver.";
RL J. Biol. Chem. 265:4630-4634(1990).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE NAT2*6D), AND VARIANTS GLN-197;
RP LYS-268 AND GLU-286.
RC TISSUE=Liver;
RX PubMed=1381364; DOI=10.1016/s0021-9258(19)37164-9;
RA Deguchi T.;
RT "Sequences and expression of alleles of polymorphic arylamine N-
RT acetyltransferase of human liver.";
RL J. Biol. Chem. 267:18140-18147(1992).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELES NAT2*5C AND NAT2*14), AND
RP VARIANTS GLN-64; THR-114 AND LYS-268.
RX PubMed=7915226;
RA Ferguson R.J., Doll M.A., Rustan T.D., Gray K., Hein D.W.;
RT "Cloning, expression, and functional characterization of two mutant
RT (NAT2(191) and NAT2(341/803)) and wild-type human polymorphic N-
RT acetyltransferase (NAT2) alleles.";
RL Drug Metab. Dispos. 22:371-376(1994).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ILE-24; GLN-64; THR-114;
RP MET-193; GLN-197; HIS-208; LYS-268 AND GLU-286.
RX PubMed=16416399; DOI=10.1086/500614;
RA Patin E., Barreiro L.B., Sabeti P.C., Austerlitz F., Luca F., Sajantila A.,
RA Behar D.M., Semino O., Sakuntabhai A., Guiso N., Gicquel B., McElreavey K.,
RA Harding R.M., Heyer E., Quintana-Murci L.;
RT "Deciphering the ancient and complex evolutionary history of human
RT arylamine N-acetyltransferase genes.";
RL Am. J. Hum. Genet. 78:423-436(2006).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE NAT2*12A).
RA Doll M.A., Satran S.L., Hein D.W.;
RL Submitted (MAY-1996) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELES NAT2*5D; NAT2*6D; NAT2*14G), AND
RP VARIANTS GLN-64; THR-114; GLN-197 AND LYS-268.
RA Leff M.A., Doll M.A., Feng Y., Fretland A.J., Hein D.W.;
RL Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-114 AND LYS-268.
RA Banerjee M., Anitha A.;
RT "A novel linkage of two NAT2 mutations.";
RL Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases.
RN [10]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT THR-114.
RA Pillai A.A., Banerjee M.;
RT "A novel allele showing linkage with 282, 341, 481, 803 point mutations in
RT the NAT2 gene.";
RL Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT THR-114.
RA Pillai A.A., Banerjee M.;
RT "A novel NAT2 allele with point mutations 341, 481, 803, 859 in the ethnic
RT populations of Kerala.";
RL Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases.
RN [12]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-114; ASN-122 AND
RP PHE-137.
RA Doll M.A., Zang Y., Yeager M., Welch R., Chanock S., Hein D.W.;
RL Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases.
RN [13]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LYS-268.
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
RN [14]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ILE-24; GLN-64; THR-114;
RP GLN-197; LEU-228; LYS-268 AND GLU-286.
RG NIEHS SNPs program;
RL Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
RN [15]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [16]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLN-197 AND LYS-268.
RC TISSUE=Liver;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [17]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-22.
RX PubMed=1676262; DOI=10.1016/0006-291x(91)90676-x;
RA Ebisawa T., Deguchi T.;
RT "Structure and restriction fragment length polymorphism of genes for human
RT liver arylamine N-acetyltransferases.";
RL Biochem. Biophys. Res. Commun. 177:1252-1257(1991).
RN [18]
RP PROTEIN SEQUENCE OF 18-33 AND 189-197.
RX PubMed=2924904; DOI=10.1016/0014-5793(89)81193-7;
RA Grant D.M., Lottspeich F., Meyer U.A.;
RT "Evidence for two closely related isozymes of arylamine N-acetyltransferase
RT in human liver.";
RL FEBS Lett. 244:203-207(1989).
RN [19]
RP X-RAY CRYSTALLOGRAPHY (1.92 ANGSTROMS) IN COMPLEX WITH COENZYME A.
RX PubMed=17656365; DOI=10.1074/jbc.m704138200;
RA Wu H., Dombrovsky L., Tempel W., Martin F., Loppnau P., Goodfellow G.H.,
RA Grant D.M., Plotnikov A.N.;
RT "Structural basis of substrate-binding specificity of human arylamine N-
RT acetyltransferases.";
RL J. Biol. Chem. 282:30189-30197(2007).
RN [20]
RP VARIANTS.
RX PubMed=2068113; DOI=10.1073/pnas.88.14.6333;
RA Vatsis K.P., Martell K.J., Weber W.W.;
RT "Diverse point mutations in the human gene for polymorphic N-
RT acetyltransferase.";
RL Proc. Natl. Acad. Sci. U.S.A. 88:6333-6337(1991).
RN [21]
RP VARIANTS.
RX PubMed=8466518; DOI=10.1006/bbrc.1993.1289;
RA Abe M., Deguchi T., Suzuki T.;
RT "The structure and characteristics of a fourth allele of polymorphic N-
RT acetyltransferase gene found in the Japanese population.";
RL Biochem. Biophys. Res. Commun. 191:811-816(1993).
RN [22]
RP VARIANTS NAT2*17 PRO-145 AND NAT2*18 THR-282.
RX PubMed=7920692; DOI=10.1097/00008571-199406000-00003;
RA Lin H.J., Han C.Y., Lin B.K., Hardy S.;
RT "Ethnic distribution of slow acetylator mutations in the polymorphic N-
RT acetyltransferase (NAT2) gene.";
RL Pharmacogenetics 4:125-134(1994).
CC -!- FUNCTION: Participates in the detoxification of a plethora of hydrazine
CC and arylamine drugs. Catalyzes the N- or O-acetylation of various
CC arylamine and heterocyclic amine substrates and is able to bioactivate
CC several known carcinogens.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=acetyl-CoA + an arylamine = an N-acetylarylamine + CoA;
CC Xref=Rhea:RHEA:16613, ChEBI:CHEBI:13790, ChEBI:CHEBI:50471,
CC ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=2.3.1.5;
CC -!- INTERACTION:
CC P11245; Q13315: ATM; NbExp=2; IntAct=EBI-9057228, EBI-495465;
CC P11245; O95243-2: MBD4; NbExp=3; IntAct=EBI-9057228, EBI-6448717;
CC P11245; Q06609: RAD51; NbExp=4; IntAct=EBI-9057228, EBI-297202;
CC -!- SUBCELLULAR LOCATION: Cytoplasm.
CC -!- POLYMORPHISM: Polymorphisms in NAT2 are the cause of slow and fast
CC acetylation phenotypes [MIM:243400] and influence drug therapy response
CC and susceptibility to chemical toxicity or carcinogenicity.
CC {ECO:0000269|PubMed:16416399}.
CC -!- SIMILARITY: Belongs to the arylamine N-acetyltransferase family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK51711.1; Type=Frameshift; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/NAT2ID41498ch8p22.html";
CC -!- WEB RESOURCE: Name=NAT; Note=NAT alleles;
CC URL="http://nat.mbg.duth.gr/";
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/nat2/";
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DR EMBL; X14672; CAA32802.1; -; Genomic_DNA.
DR EMBL; D90040; BAA14094.1; -; mRNA.
DR EMBL; D90042; BAA14096.1; -; mRNA.
DR EMBL; D10870; BAA01640.1; -; Genomic_DNA.
DR EMBL; D10871; BAA01641.1; -; Genomic_DNA.
DR EMBL; D10872; BAA01642.1; -; Genomic_DNA.
DR EMBL; U23052; AAA64584.1; -; Genomic_DNA.
DR EMBL; U23434; AAA64585.1; -; Genomic_DNA.
DR EMBL; DQ305496; ABC26032.1; -; Genomic_DNA.
DR EMBL; DQ305497; ABC26033.1; -; Genomic_DNA.
DR EMBL; DQ305498; ABC26034.1; -; Genomic_DNA.
DR EMBL; DQ305499; ABC26035.1; -; Genomic_DNA.
DR EMBL; DQ305500; ABC26036.1; -; Genomic_DNA.
DR EMBL; DQ305501; ABC26037.1; -; Genomic_DNA.
DR EMBL; DQ305502; ABC26038.1; -; Genomic_DNA.
DR EMBL; DQ305503; ABC26039.1; -; Genomic_DNA.
DR EMBL; DQ305504; ABC26040.1; -; Genomic_DNA.
DR EMBL; DQ305505; ABC26041.1; -; Genomic_DNA.
DR EMBL; DQ305506; ABC26042.1; -; Genomic_DNA.
DR EMBL; DQ305507; ABC26043.1; -; Genomic_DNA.
DR EMBL; DQ305508; ABC26044.1; -; Genomic_DNA.
DR EMBL; DQ305509; ABC26045.1; -; Genomic_DNA.
DR EMBL; DQ305510; ABC26046.1; -; Genomic_DNA.
DR EMBL; DQ305511; ABC26047.1; -; Genomic_DNA.
DR EMBL; DQ305512; ABC26048.1; -; Genomic_DNA.
DR EMBL; DQ305513; ABC26049.1; -; Genomic_DNA.
DR EMBL; DQ305514; ABC26050.1; -; Genomic_DNA.
DR EMBL; DQ305515; ABC26051.1; -; Genomic_DNA.
DR EMBL; DQ305516; ABC26052.1; -; Genomic_DNA.
DR EMBL; DQ305517; ABC26053.1; -; Genomic_DNA.
DR EMBL; DQ305518; ABC26054.1; -; Genomic_DNA.
DR EMBL; DQ305519; ABC26055.1; -; Genomic_DNA.
DR EMBL; DQ305520; ABC26056.1; -; Genomic_DNA.
DR EMBL; DQ305521; ABC26057.1; -; Genomic_DNA.
DR EMBL; DQ305522; ABC26058.1; -; Genomic_DNA.
DR EMBL; DQ305523; ABC26059.1; -; Genomic_DNA.
DR EMBL; DQ305524; ABC26060.1; -; Genomic_DNA.
DR EMBL; DQ305525; ABC26061.1; -; Genomic_DNA.
DR EMBL; DQ305526; ABC26062.1; -; Genomic_DNA.
DR EMBL; DQ305527; ABC26063.1; -; Genomic_DNA.
DR EMBL; DQ305528; ABC26064.1; -; Genomic_DNA.
DR EMBL; DQ305529; ABC26065.1; -; Genomic_DNA.
DR EMBL; DQ305530; ABC26066.1; -; Genomic_DNA.
DR EMBL; DQ305531; ABC26067.1; -; Genomic_DNA.
DR EMBL; DQ305532; ABC26068.1; -; Genomic_DNA.
DR EMBL; DQ305533; ABC26069.1; -; Genomic_DNA.
DR EMBL; DQ305534; ABC26070.1; -; Genomic_DNA.
DR EMBL; DQ305535; ABC26071.1; -; Genomic_DNA.
DR EMBL; DQ305536; ABC26072.1; -; Genomic_DNA.
DR EMBL; DQ305537; ABC26073.1; -; Genomic_DNA.
DR EMBL; DQ305538; ABC26074.1; -; Genomic_DNA.
DR EMBL; DQ305539; ABC26075.1; -; Genomic_DNA.
DR EMBL; DQ305540; ABC26076.1; -; Genomic_DNA.
DR EMBL; DQ305541; ABC26077.1; -; Genomic_DNA.
DR EMBL; DQ305542; ABC26078.1; -; Genomic_DNA.
DR EMBL; DQ305543; ABC26079.1; -; Genomic_DNA.
DR EMBL; DQ305544; ABC26080.1; -; Genomic_DNA.
DR EMBL; DQ305545; ABC26081.1; -; Genomic_DNA.
DR EMBL; DQ305546; ABC26082.1; -; Genomic_DNA.
DR EMBL; DQ305547; ABC26083.1; -; Genomic_DNA.
DR EMBL; DQ305548; ABC26084.1; -; Genomic_DNA.
DR EMBL; DQ305549; ABC26085.1; -; Genomic_DNA.
DR EMBL; DQ305550; ABC26086.1; -; Genomic_DNA.
DR EMBL; DQ305551; ABC26087.1; -; Genomic_DNA.
DR EMBL; DQ305552; ABC26088.1; -; Genomic_DNA.
DR EMBL; DQ305553; ABC26089.1; -; Genomic_DNA.
DR EMBL; DQ305554; ABC26090.1; -; Genomic_DNA.
DR EMBL; DQ305555; ABC26091.1; -; Genomic_DNA.
DR EMBL; DQ305556; ABC26092.1; -; Genomic_DNA.
DR EMBL; DQ305557; ABC26093.1; -; Genomic_DNA.
DR EMBL; DQ305558; ABC26094.1; -; Genomic_DNA.
DR EMBL; DQ305559; ABC26095.1; -; Genomic_DNA.
DR EMBL; DQ305560; ABC26096.1; -; Genomic_DNA.
DR EMBL; DQ305561; ABC26097.1; -; Genomic_DNA.
DR EMBL; DQ305562; ABC26098.1; -; Genomic_DNA.
DR EMBL; DQ305563; ABC26099.1; -; Genomic_DNA.
DR EMBL; DQ305564; ABC26100.1; -; Genomic_DNA.
DR EMBL; DQ305565; ABC26101.1; -; Genomic_DNA.
DR EMBL; DQ305566; ABC26102.1; -; Genomic_DNA.
DR EMBL; DQ305567; ABC26103.1; -; Genomic_DNA.
DR EMBL; DQ305568; ABC26104.1; -; Genomic_DNA.
DR EMBL; DQ305569; ABC26105.1; -; Genomic_DNA.
DR EMBL; DQ305570; ABC26106.1; -; Genomic_DNA.
DR EMBL; DQ305571; ABC26107.1; -; Genomic_DNA.
DR EMBL; DQ305572; ABC26108.1; -; Genomic_DNA.
DR EMBL; DQ305573; ABC26109.1; -; Genomic_DNA.
DR EMBL; DQ305574; ABC26110.1; -; Genomic_DNA.
DR EMBL; DQ305575; ABC26111.1; -; Genomic_DNA.
DR EMBL; DQ305576; ABC26112.1; -; Genomic_DNA.
DR EMBL; DQ305577; ABC26113.1; -; Genomic_DNA.
DR EMBL; DQ305578; ABC26114.1; -; Genomic_DNA.
DR EMBL; DQ305579; ABC26115.1; -; Genomic_DNA.
DR EMBL; DQ305580; ABC26116.1; -; Genomic_DNA.
DR EMBL; DQ305581; ABC26117.1; -; Genomic_DNA.
DR EMBL; DQ305582; ABC26118.1; -; Genomic_DNA.
DR EMBL; DQ305583; ABC26119.1; -; Genomic_DNA.
DR EMBL; DQ305584; ABC26120.1; -; Genomic_DNA.
DR EMBL; DQ305585; ABC26121.1; -; Genomic_DNA.
DR EMBL; DQ305586; ABC26122.1; -; Genomic_DNA.
DR EMBL; DQ305587; ABC26123.1; -; Genomic_DNA.
DR EMBL; DQ305588; ABC26124.1; -; Genomic_DNA.
DR EMBL; DQ305589; ABC26125.1; -; Genomic_DNA.
DR EMBL; DQ305590; ABC26126.1; -; Genomic_DNA.
DR EMBL; DQ305591; ABC26127.1; -; Genomic_DNA.
DR EMBL; DQ305592; ABC26128.1; -; Genomic_DNA.
DR EMBL; DQ305593; ABC26129.1; -; Genomic_DNA.
DR EMBL; DQ305594; ABC26130.1; -; Genomic_DNA.
DR EMBL; DQ305595; ABC26131.1; -; Genomic_DNA.
DR EMBL; DQ305596; ABC26132.1; -; Genomic_DNA.
DR EMBL; DQ305597; ABC26133.1; -; Genomic_DNA.
DR EMBL; DQ305598; ABC26134.1; -; Genomic_DNA.
DR EMBL; DQ305599; ABC26135.1; -; Genomic_DNA.
DR EMBL; DQ305600; ABC26136.1; -; Genomic_DNA.
DR EMBL; DQ305601; ABC26137.1; -; Genomic_DNA.
DR EMBL; DQ305602; ABC26138.1; -; Genomic_DNA.
DR EMBL; DQ305603; ABC26139.1; -; Genomic_DNA.
DR EMBL; DQ305604; ABC26140.1; -; Genomic_DNA.
DR EMBL; DQ305605; ABC26141.1; -; Genomic_DNA.
DR EMBL; DQ305606; ABC26142.1; -; Genomic_DNA.
DR EMBL; DQ305607; ABC26143.1; -; Genomic_DNA.
DR EMBL; DQ305608; ABC26144.1; -; Genomic_DNA.
DR EMBL; DQ305609; ABC26145.1; -; Genomic_DNA.
DR EMBL; DQ305610; ABC26146.1; -; Genomic_DNA.
DR EMBL; DQ305611; ABC26147.1; -; Genomic_DNA.
DR EMBL; DQ305612; ABC26148.1; -; Genomic_DNA.
DR EMBL; DQ305613; ABC26149.1; -; Genomic_DNA.
DR EMBL; DQ305614; ABC26150.1; -; Genomic_DNA.
DR EMBL; DQ305615; ABC26151.1; -; Genomic_DNA.
DR EMBL; DQ305616; ABC26152.1; -; Genomic_DNA.
DR EMBL; DQ305617; ABC26153.1; -; Genomic_DNA.
DR EMBL; DQ305618; ABC26154.1; -; Genomic_DNA.
DR EMBL; DQ305619; ABC26155.1; -; Genomic_DNA.
DR EMBL; DQ305620; ABC26156.1; -; Genomic_DNA.
DR EMBL; DQ305621; ABC26157.1; -; Genomic_DNA.
DR EMBL; DQ305622; ABC26158.1; -; Genomic_DNA.
DR EMBL; DQ305623; ABC26159.1; -; Genomic_DNA.
DR EMBL; DQ305624; ABC26160.1; -; Genomic_DNA.
DR EMBL; DQ305625; ABC26161.1; -; Genomic_DNA.
DR EMBL; DQ305626; ABC26162.1; -; Genomic_DNA.
DR EMBL; DQ305627; ABC26163.1; -; Genomic_DNA.
DR EMBL; DQ305628; ABC26164.1; -; Genomic_DNA.
DR EMBL; DQ305629; ABC26165.1; -; Genomic_DNA.
DR EMBL; DQ305630; ABC26166.1; -; Genomic_DNA.
DR EMBL; DQ305631; ABC26167.1; -; Genomic_DNA.
DR EMBL; DQ305632; ABC26168.1; -; Genomic_DNA.
DR EMBL; DQ305633; ABC26169.1; -; Genomic_DNA.
DR EMBL; DQ305634; ABC26170.1; -; Genomic_DNA.
DR EMBL; DQ305635; ABC26171.1; -; Genomic_DNA.
DR EMBL; DQ305636; ABC26172.1; -; Genomic_DNA.
DR EMBL; DQ305637; ABC26173.1; -; Genomic_DNA.
DR EMBL; DQ305638; ABC26174.1; -; Genomic_DNA.
DR EMBL; DQ305639; ABC26175.1; -; Genomic_DNA.
DR EMBL; DQ305640; ABC26176.1; -; Genomic_DNA.
DR EMBL; DQ305641; ABC26177.1; -; Genomic_DNA.
DR EMBL; DQ305642; ABC26178.1; -; Genomic_DNA.
DR EMBL; DQ305643; ABC26179.1; -; Genomic_DNA.
DR EMBL; DQ305644; ABC26180.1; -; Genomic_DNA.
DR EMBL; DQ305645; ABC26181.1; -; Genomic_DNA.
DR EMBL; DQ305646; ABC26182.1; -; Genomic_DNA.
DR EMBL; DQ305647; ABC26183.1; -; Genomic_DNA.
DR EMBL; DQ305648; ABC26184.1; -; Genomic_DNA.
DR EMBL; DQ305649; ABC26185.1; -; Genomic_DNA.
DR EMBL; DQ305650; ABC26186.1; -; Genomic_DNA.
DR EMBL; DQ305651; ABC26187.1; -; Genomic_DNA.
DR EMBL; DQ305652; ABC26188.1; -; Genomic_DNA.
DR EMBL; DQ305653; ABC26189.1; -; Genomic_DNA.
DR EMBL; DQ305654; ABC26190.1; -; Genomic_DNA.
DR EMBL; DQ305655; ABC26191.1; -; Genomic_DNA.
DR EMBL; U53473; AAA98976.1; -; Genomic_DNA.
DR EMBL; AF042740; AAC03773.1; -; Genomic_DNA.
DR EMBL; AF055874; AAC14117.1; -; Genomic_DNA.
DR EMBL; AF055875; AAC14118.1; -; Genomic_DNA.
DR EMBL; AF320309; AAG34181.1; -; Genomic_DNA.
DR EMBL; AF348074; AAK51710.1; -; Genomic_DNA.
DR EMBL; AF348075; AAK51711.1; ALT_FRAME; Genomic_DNA.
DR EMBL; AY230251; AAO73561.1; -; Genomic_DNA.
DR EMBL; AY230252; AAO73562.1; -; Genomic_DNA.
DR EMBL; CR407631; CAG28559.1; -; mRNA.
DR EMBL; AY331807; AAP81164.1; -; Genomic_DNA.
DR EMBL; AC025062; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC120051; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC015878; AAH15878.1; -; mRNA.
DR EMBL; BC067218; AAH67218.1; -; mRNA.
DR EMBL; M75163; AAA59906.1; -; Genomic_DNA.
DR CCDS; CCDS6008.1; -.
DR PIR; B34585; B34585.
DR PIR; S02788; S02788.
DR RefSeq; NP_000006.2; NM_000015.2.
DR RefSeq; XP_016868427.1; XM_017012938.1.
DR PDB; 2PFR; X-ray; 1.92 A; A/B=2-290.
DR PDBsum; 2PFR; -.
DR AlphaFoldDB; P11245; -.
DR SMR; P11245; -.
DR BioGRID; 106528; 23.
DR IntAct; P11245; 22.
DR MINT; P11245; -.
DR STRING; 9606.ENSP00000286479; -.
DR ChEMBL; CHEMBL2194; -.
DR DrugBank; DB00316; Acetaminophen.
DR DrugBank; DB00945; Acetylsalicylic acid.
DR DrugBank; DB11640; Amifampridine.
DR DrugBank; DB01068; Clonazepam.
DR DrugBank; DB00250; Dapsone.
DR DrugBank; DB04953; Ezogabine.
DR DrugBank; DB00951; Isoniazid.
DR DrugBank; DB12612; Ozanimod.
DR DrugBank; DB09288; Propacetamol.
DR DrugBank; DB01015; Sulfamethoxazole.
DR iPTMnet; P11245; -.
DR PhosphoSitePlus; P11245; -.
DR BioMuta; NAT2; -.
DR DMDM; 114238; -.
DR MassIVE; P11245; -.
DR MaxQB; P11245; -.
DR PaxDb; P11245; -.
DR PeptideAtlas; P11245; -.
DR PRIDE; P11245; -.
DR ProteomicsDB; 52728; -.
DR Antibodypedia; 22356; 261 antibodies from 28 providers.
DR DNASU; 10; -.
DR Ensembl; ENST00000286479.4; ENSP00000286479.3; ENSG00000156006.5.
DR GeneID; 10; -.
DR KEGG; hsa:10; -.
DR MANE-Select; ENST00000286479.4; ENSP00000286479.3; NM_000015.3; NP_000006.2.
DR UCSC; uc003wyw.2; human.
DR CTD; 10; -.
DR DisGeNET; 10; -.
DR GeneCards; NAT2; -.
DR HGNC; HGNC:7646; NAT2.
DR HPA; ENSG00000156006; Group enriched (intestine, liver).
DR MalaCards; NAT2; -.
DR MIM; 243400; phenotype.
DR MIM; 612182; gene.
DR neXtProt; NX_P11245; -.
DR OpenTargets; ENSG00000156006; -.
DR Orphanet; 240887; Prediction of isoniazid toxicity.
DR PharmGKB; PA18; -.
DR VEuPathDB; HostDB:ENSG00000156006; -.
DR eggNOG; ENOG502RD0D; Eukaryota.
DR GeneTree; ENSGT00390000012054; -.
DR HOGENOM; CLU_049918_3_0_1; -.
DR InParanoid; P11245; -.
DR OrthoDB; 1545569at2759; -.
DR PhylomeDB; P11245; -.
DR TreeFam; TF106311; -.
DR BRENDA; 2.3.1.5; 2681.
DR PathwayCommons; P11245; -.
DR Reactome; R-HSA-156582; Acetylation.
DR Reactome; R-HSA-9753281; Paracetamol ADME.
DR SignaLink; P11245; -.
DR BioGRID-ORCS; 10; 11 hits in 1064 CRISPR screens.
DR ChiTaRS; NAT2; human.
DR EvolutionaryTrace; P11245; -.
DR GeneWiki; N-acetyltransferase_2; -.
DR GenomeRNAi; 10; -.
DR Pharos; P11245; Tbio.
DR PRO; PR:P11245; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; P11245; protein.
DR Bgee; ENSG00000156006; Expressed in right lobe of liver and 88 other tissues.
DR ExpressionAtlas; P11245; baseline and differential.
DR Genevisible; P11245; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0004060; F:arylamine N-acetyltransferase activity; IBA:GO_Central.
DR GO; GO:0006805; P:xenobiotic metabolic process; TAS:Reactome.
DR InterPro; IPR001447; Arylamine_N-AcTrfase.
DR InterPro; IPR038765; Papain-like_cys_pep_sf.
DR PANTHER; PTHR11786; PTHR11786; 1.
DR Pfam; PF00797; Acetyltransf_2; 1.
DR PRINTS; PR01543; ANATRNSFRASE.
DR SUPFAM; SSF54001; SSF54001; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acyltransferase; Cytoplasm; Direct protein sequencing;
KW Reference proteome; Transferase.
FT CHAIN 1..290
FT /note="Arylamine N-acetyltransferase 2"
FT /id="PRO_0000107905"
FT ACT_SITE 68
FT /note="Acyl-thioester intermediate"
FT ACT_SITE 107
FT ACT_SITE 122
FT BINDING 103
FT /ligand="CoA"
FT /ligand_id="ChEBI:CHEBI:57287"
FT /evidence="ECO:0000269|PubMed:17656365"
FT BINDING 104
FT /ligand="CoA"
FT /ligand_id="ChEBI:CHEBI:57287"
FT /evidence="ECO:0000269|PubMed:17656365"
FT BINDING 106..107
FT /ligand="substrate"
FT /evidence="ECO:0000305"
FT BINDING 208
FT /ligand="CoA"
FT /ligand_id="ChEBI:CHEBI:57287"
FT /evidence="ECO:0000269|PubMed:17656365"
FT BINDING 214
FT /ligand="CoA"
FT /ligand_id="ChEBI:CHEBI:57287"
FT /evidence="ECO:0000269|PubMed:17656365"
FT BINDING 287
FT /ligand="CoA"
FT /ligand_id="ChEBI:CHEBI:57287"
FT /evidence="ECO:0000269|PubMed:17656365"
FT VARIANT 24
FT /note="L -> I (in dbSNP:rs45477599)"
FT /evidence="ECO:0000269|PubMed:16416399, ECO:0000269|Ref.14"
FT /id="VAR_018853"
FT VARIANT 64
FT /note="R -> Q (in allele NAT2*14A, allele NAT2*14B, allele
FT NAT2*14C, allele NAT2*14D, allele NAT2*14E, allele NAT2*14F
FT and allele NAT2*14G; a slow acetylator; dbSNP:rs1801279)"
FT /evidence="ECO:0000269|PubMed:16416399,
FT ECO:0000269|PubMed:7915226, ECO:0000269|Ref.14,
FT ECO:0000269|Ref.8"
FT /id="VAR_004608"
FT VARIANT 64
FT /note="R -> W (in allele NAT2*19; dbSNP:rs1805158)"
FT /id="VAR_009075"
FT VARIANT 114
FT /note="I -> T (in allele NAT2*5A, allele NAT2*5B, allele
FT NAT2*5C, allele NAT2*5D, allele NAT2*5E, allele NAT2*5F,
FT allele NAT2*14B and allele NAT2*14E; a slow acetylator;
FT dbSNP:rs1801280)"
FT /evidence="ECO:0000269|PubMed:16416399,
FT ECO:0000269|PubMed:7915226, ECO:0000269|Ref.10,
FT ECO:0000269|Ref.11, ECO:0000269|Ref.12, ECO:0000269|Ref.14,
FT ECO:0000269|Ref.8, ECO:0000269|Ref.9"
FT /id="VAR_004609"
FT VARIANT 122
FT /note="D -> N (in dbSNP:rs4986996)"
FT /evidence="ECO:0000269|Ref.12"
FT /id="VAR_020385"
FT VARIANT 135
FT /note="L -> V (in dbSNP:rs12720065)"
FT /id="VAR_046905"
FT VARIANT 137
FT /note="L -> F (in dbSNP:rs4986997)"
FT /evidence="ECO:0000269|Ref.12"
FT /id="VAR_020386"
FT VARIANT 145
FT /note="Q -> P (in allele NAT2*17; dbSNP:rs72554616)"
FT /evidence="ECO:0000269|PubMed:7920692"
FT /id="VAR_009076"
FT VARIANT 193
FT /note="T -> M (in dbSNP:rs79050330)"
FT /evidence="ECO:0000269|PubMed:16416399"
FT /id="VAR_028781"
FT VARIANT 197
FT /note="R -> Q (in allele NAT2*5E, allele NAT2*6A, allele
FT NAT2*6B, allele NAT2*6C, allele NAT2*6D and allele
FT NAT2*14D; a slow acetylator; dbSNP:rs1799930)"
FT /evidence="ECO:0000269|PubMed:1381364,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16416399,
FT ECO:0000269|Ref.14, ECO:0000269|Ref.8"
FT /id="VAR_004610"
FT VARIANT 208
FT /note="Y -> H (in dbSNP:rs56387565)"
FT /evidence="ECO:0000269|PubMed:16416399"
FT /id="VAR_028782"
FT VARIANT 228
FT /note="P -> L (in dbSNP:rs45518335)"
FT /evidence="ECO:0000269|Ref.14"
FT /id="VAR_018854"
FT VARIANT 268
FT /note="R -> K (in allele NAT2*5A, allele NAT2*5D, allele
FT NAT2*5E, allele NAT2*6A, allele NAT2*6B, allele NAT2*6D,
FT allele NAT2*7A, allele NAT2*7B, NAT2*14A, allele NAT2*14B,
FT allele NAT2*14D, allele NAT2*17, allele NAT2*18, allele
FT NAT2*19; dbSNP:rs1208)"
FT /evidence="ECO:0000269|PubMed:16416399,
FT ECO:0000269|PubMed:7915226, ECO:0000269|Ref.10,
FT ECO:0000269|Ref.11, ECO:0000269|Ref.12, ECO:0000269|Ref.14,
FT ECO:0000269|Ref.7, ECO:0000269|Ref.8"
FT /id="VAR_004611"
FT VARIANT 280
FT /note="V -> M (in dbSNP:rs56393504)"
FT /id="VAR_061368"
FT VARIANT 282
FT /note="K -> T (in allele NAT2*18; dbSNP:rs56054745)"
FT /evidence="ECO:0000269|PubMed:7920692"
FT /id="VAR_009077"
FT VARIANT 286
FT /note="G -> E (in allele NAT2*7A and allele NAT2*7B; a slow
FT acetylator; dbSNP:rs1799931)"
FT /evidence="ECO:0000269|PubMed:1381364,
FT ECO:0000269|PubMed:16416399, ECO:0000269|PubMed:1968463,
FT ECO:0000269|Ref.14"
FT /id="VAR_004612"
FT CONFLICT 6
FT /note="Y -> D (in Ref. 13; CAG28559)"
FT /evidence="ECO:0000305"
FT CONFLICT 30
FT /note="H -> T (in Ref. 18; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 286
FT /note="G -> R (in Ref. 9; AAG34181)"
FT /evidence="ECO:0000305"
FT HELIX 2..9
FT /evidence="ECO:0007829|PDB:2PFR"
FT HELIX 21..34
FT /evidence="ECO:0007829|PDB:2PFR"
FT HELIX 40..43
FT /evidence="ECO:0007829|PDB:2PFR"
FT HELIX 52..59
FT /evidence="ECO:0007829|PDB:2PFR"
FT HELIX 68..82
FT /evidence="ECO:0007829|PDB:2PFR"
FT STRAND 85..95
FT /evidence="ECO:0007829|PDB:2PFR"
FT HELIX 96..98
FT /evidence="ECO:0007829|PDB:2PFR"
FT STRAND 107..114
FT /evidence="ECO:0007829|PDB:2PFR"
FT STRAND 117..121
FT /evidence="ECO:0007829|PDB:2PFR"
FT HELIX 127..129
FT /evidence="ECO:0007829|PDB:2PFR"
FT STRAND 142..144
FT /evidence="ECO:0007829|PDB:2PFR"
FT STRAND 149..155
FT /evidence="ECO:0007829|PDB:2PFR"
FT STRAND 158..164
FT /evidence="ECO:0007829|PDB:2PFR"
FT STRAND 167..171
FT /evidence="ECO:0007829|PDB:2PFR"
FT HELIX 173..175
FT /evidence="ECO:0007829|PDB:2PFR"
FT STRAND 185..192
FT /evidence="ECO:0007829|PDB:2PFR"
FT HELIX 199..202
FT /evidence="ECO:0007829|PDB:2PFR"
FT HELIX 203..211
FT /evidence="ECO:0007829|PDB:2PFR"
FT HELIX 216..219
FT /evidence="ECO:0007829|PDB:2PFR"
FT STRAND 222..226
FT /evidence="ECO:0007829|PDB:2PFR"
FT STRAND 228..235
FT /evidence="ECO:0007829|PDB:2PFR"
FT STRAND 238..247
FT /evidence="ECO:0007829|PDB:2PFR"
FT STRAND 250..257
FT /evidence="ECO:0007829|PDB:2PFR"
FT HELIX 260..269
FT /evidence="ECO:0007829|PDB:2PFR"
FT STRAND 285..288
FT /evidence="ECO:0007829|PDB:2PFR"
SQ SEQUENCE 290 AA; 33571 MW; FAEE3BC2107F000E CRC64;
MDIEAYFERI GYKNSRNKLD LETLTDILEH QIRAVPFENL NMHCGQAMEL GLEAIFDHIV
RRNRGGWCLQ VNQLLYWALT TIGFQTTMLG GYFYIPPVNK YSTGMVHLLL QVTIDGRNYI
VDAGSGSSSQ MWQPLELISG KDQPQVPCIF CLTEERGIWY LDQIRREQYI TNKEFLNSHL
LPKKKHQKIY LFTLEPRTIE DFESMNTYLQ TSPTSSFITT SFCSLQTPEG VYCLVGFILT
YRKFNYKDNT DLVEFKTLTE EEVEEVLRNI FKISLGRNLV PKPGDGSLTI
