LOCUS       NM_000015               1285 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens N-acetyltransferase 2 (NAT2), mRNA.
ACCESSION   NM_000015
VERSION     NM_000015.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1285)
  AUTHORS   Cho,F.N., Achidi,E.A., Enoh,J.E., Pallerla,S.R., Linh,L.T.K.,
            Tong,H.V., Kamgno,J., Penlap,V.B., Adegnika,A.A.,
            Lekana-Douki,J.B., Bouyou-Akotet,M.K., Kahunu,G.M., Lutete,G.T.,
            Bates,M., Tembo,J., Elton,L., McHugh,T.D., Grobusch,M.P., Zumla,A.,
            Ntoumi,F. and Velavan,T.P.
  TITLE     Drug-induced hepatotoxicity and association with slow acetylation
            variants NAT2*5 and NAT2*6 in Cameroonian patients with
            tuberculosis and HIV co-infection
  JOURNAL   BMC Infect Dis 24 (1), 759 (2024)
   PUBMED   39085767
  REMARK    GeneRIF: Drug-induced hepatotoxicity and association with slow
            acetylation variants NAT2*5 and NAT2*6 in Cameroonian patients with
            tuberculosis and HIV co-infection.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1285)
  AUTHORS   Liu,H., Zhang,G., Li,C. and Song,X.
  TITLE     LINC00520 promotes colorectal cancer progression through
            miRNA-195-3p / NAT2 axis
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 70 (6), 187-191 (2024)
   PUBMED   38836661
  REMARK    GeneRIF: LINC00520 promotes colorectal cancer progression through
            miRNA-195-3p / NAT2 axis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1285)
  AUTHORS   Thomas,L., Raju,A.P., Chaithra,S., Kulavalli,S., Varma,M., Sv,C.S.,
            Baneerjee,M., Saravu,K., Mallayasamy,S. and Rao,M.
  TITLE     Influence of N-acetyltransferase 2 polymorphisms and clinical
            variables on liver function profile of tuberculosis patients
  JOURNAL   Expert Rev Clin Pharmacol 17 (3), 263-274 (2024)
   PUBMED   38287694
  REMARK    GeneRIF: Influence of N-acetyltransferase 2 polymorphisms and
            clinical variables on liver function profile of tuberculosis
            patients.
REFERENCE   4  (bases 1 to 1285)
  AUTHORS   Cheng,F., Qiu,C.C., Jiang,X.G., Wu,T., Zhang,Q., Chen,X.,
            Zheng,S.L., Liu,S.D., Ye,X.C. and Shi,J.C.
  TITLE     Relevance of NAT2 genotype and clinical factors to risk for
            antituberculosis drug-induced liver injury
  JOURNAL   Pharmacogenomics 25 (1), 21-28 (2024)
   PUBMED   38131213
  REMARK    GeneRIF: Relevance of NAT2 genotype and clinical factors to risk
            for antituberculosis drug-induced liver injury.
REFERENCE   5  (bases 1 to 1285)
  AUTHORS   Vatsis,K.P., Weber,W.W., Bell,D.A., Dupret,J.M., Evans,D.A.,
            Grant,D.M., Hein,D.W., Lin,H.J., Meyer,U.A., Relling,M.V. et al.
  TITLE     Nomenclature for N-acetyltransferases
  JOURNAL   Pharmacogenetics 5 (1), 1-17 (1995)
   PUBMED   7773298
  REMARK    Review article
REFERENCE   6  (bases 1 to 1285)
  AUTHORS   Hickman,D., Risch,A., Camilleri,J.P. and Sim,E.
  TITLE     Genotyping human polymorphic arylamine N-acetyltransferase:
            identification of new slow allotypic variants
  JOURNAL   Pharmacogenetics 2 (5), 217-226 (1992)
   PUBMED   1306121
REFERENCE   7  (bases 1 to 1285)
  AUTHORS   Deguchi,T.
  TITLE     Sequences and expression of alleles of polymorphic arylamine
            N-acetyltransferase of human liver
  JOURNAL   J Biol Chem 267 (25), 18140-18147 (1992)
   PUBMED   1381364
REFERENCE   8  (bases 1 to 1285)
  AUTHORS   Grant,D.M., Blum,M. and Meyer,U.A.
  TITLE     Polymorphisms of N-acetyltransferase genes
  JOURNAL   Xenobiotica 22 (9-10), 1073-1081 (1992)
   PUBMED   1441598
REFERENCE   9  (bases 1 to 1285)
  AUTHORS   Blum,M., Grant,D.M., McBride,W., Heim,M. and Meyer,U.A.
  TITLE     Human arylamine N-acetyltransferase genes: isolation, chromosomal
            localization, and functional expression
  JOURNAL   DNA Cell Biol 9 (3), 193-203 (1990)
   PUBMED   2340091
REFERENCE   10 (bases 1 to 1285)
  AUTHORS   Grant,D.M., Lottspeich,F. and Meyer,U.A.
  TITLE     Evidence for two closely related isozymes of arylamine
            N-acetyltransferase in human liver
  JOURNAL   FEBS Lett 244 (1), 203-207 (1989)
   PUBMED   2924904
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D90042.1, AI460128.1 and
            AC120051.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 20, 2018 this sequence version replaced NM_000015.2.
            
            Summary: 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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.54927.1,
                                           SRR5189664.65048.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000286479.4/ ENSP00000286479.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-872               D90042.1           38-909
            873-1280            AI460128.1         1-408               c
            1281-1285           AC120051.5         147078-147082       c
FEATURES             Location/Qualifiers
     source          1..1285
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     gene            1..1285
                     /gene="NAT2"
                     /gene_synonym="AAC2; NAT-2; PNAT"
                     /note="N-acetyltransferase 2"
                     /db_xref="GeneID:10"
                     /db_xref="HGNC:HGNC:7646"
                     /db_xref="MIM:612182"
     exon            1..64
                     /gene="NAT2"
                     /gene_synonym="AAC2; NAT-2; PNAT"
                     /inference="alignment:Splign:2.1.0"
     exon            65..1285
                     /gene="NAT2"
                     /gene_synonym="AAC2; NAT-2; PNAT"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..943
                     /gene="NAT2"
                     /gene_synonym="AAC2; NAT-2; PNAT"
                     /EC_number="2.3.1.5"
                     /EC_number="2.3.1.118"
                     /note="N-acetyltransferase 2 (arylamine
                     N-acetyltransferase); N-acetyltransferase type 2;
                     arylamide acetylase 2; N-hydroxyarylamine
                     O-acetyltransferase"
                     /codon_start=1
                     /product="arylamine N-acetyltransferase 2"
                     /protein_id="NP_000006.2"
                     /db_xref="CCDS:CCDS6008.1"
                     /db_xref="GeneID:10"
                     /db_xref="HGNC:HGNC:7646"
                     /db_xref="MIM:612182"
                     /translation="MDIEAYFERIGYKNSRNKLDLETLTDILEHQIRAVPFENLNMHC
                     GQAMELGLEAIFDHIVRRNRGGWCLQVNQLLYWALTTIGFQTTMLGGYFYIPPVNKYS
                     TGMVHLLLQVTIDGRNYIVDAGSGSSSQMWQPLELISGKDQPQVPCIFCLTEERGIWY
                     LDQIRREQYITNKEFLNSHLLPKKKHQKIYLFTLEPRTIEDFESMNTYLQTSPTSSFI
                     TTSFCSLQTPEGVYCLVGFILTYRKFNYKDNTDLVEFKTLTEEEVEEVLRNIFKISLG
                     RNLVPKPGDGSLTI"
     regulatory      1264..1269
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAT2"
                     /gene_synonym="AAC2; NAT-2; PNAT"
                     /note="hexamer: AATAAA"
     polyA_site      1285
                     /gene="NAT2"
                     /gene_synonym="AAC2; NAT-2; PNAT"
                     /note="major polyA site"
ORIGIN      
        1 actttattac agaccttgga agcaagagga ttgcattcag cctagttcct ggttgctggc
       61 caaagggatc atggacattg aagcatattt tgaaagaatt ggctataaga actctaggaa
      121 caaattggac ttggaaacat taactgacat tcttgagcac cagatccggg ctgttccctt
      181 tgagaacctt aacatgcatt gtgggcaagc catggagttg ggcttagagg ctatttttga
      241 tcacattgta agaagaaacc ggggtgggtg gtgtctccag gtcaatcaac ttctgtactg
      301 ggctctgacc acaatcggtt ttcagaccac aatgttagga gggtattttt acatccctcc
      361 agttaacaaa tacagcactg gcatggttca ccttctcctg caggtgacca ttgacggcag
      421 gaattacatt gtcgatgctg ggtctggaag ctcctcccag atgtggcagc ctctagaatt
      481 aatttctggg aaggatcagc ctcaggtgcc ttgcattttc tgcttgacag aagagagagg
      541 aatctggtac ctggaccaaa tcaggagaga gcagtatatt acaaacaaag aatttcttaa
      601 ttctcatctc ctgccaaaga agaaacacca aaaaatatac ttatttacgc ttgaacctcg
      661 aacaattgaa gattttgagt ctatgaatac atacctgcag acgtctccaa catcttcatt
      721 tataaccaca tcattttgtt ccttgcagac cccagaaggg gtttactgtt tggtgggctt
      781 catcctcacc tatagaaaat tcaattataa agacaataca gatctggtcg agtttaaaac
      841 tctcactgag gaagaggttg aagaagtgct gagaaatata tttaagattt ccttggggag
      901 aaatctcgtg cccaaacctg gtgatggatc ccttactatt tagaataagg aacaaaataa
      961 acccttgtgt atgtatcacc caactcacta attatcaact tatgtgctat cagatatcct
     1021 ctctaccctc acgttatttt gaagaaaatc ctaaacatca aatactttca tccataaaaa
     1081 tgtcagcatt tattaaaaaa caataacttt ttaaagaaac ataaggacac attttcaaat
     1141 taataaaaat aaaggcattt taaggatggc ctgtgattat cttgggaagc agagtgattc
     1201 atgctagaaa acatttaata ttgatttatt gttgaattca tagtaaattt ttactggtaa
     1261 atgaataaag aatattgtgg aaaaa
//
