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test_genbank_file.txt
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test_genbank_file.txt
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LOCUS NM_000016 1317 bp mRNA linear PRI 09-APR-2017
DEFINITION Homo sapiens N-acetyltransferase 2 (NAT2), mRNA.
ACCESSION NM_000015
VERSION NM_000016.2
KEYWORDS RefSeq.
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 1317)
AUTHORS Ma C, Gu L, Yang M, Zhang Z, Zeng S, Song R, Xu C and Sun Y.
TITLE rs1495741 as a tag single nucleotide polymorphism of
N-acetyltransferase 2 acetylator phenotype associates bladder
cancer risk and interacts with smoking: A systematic review and
meta-analysis
JOURNAL Medicine (Baltimore) 95 (31), E4417 (2016)
PUBMED 27495060
REMARK GeneRIF: NAT2 single nucleotide polymorphism associated with the
risk bladder cancer development and interacts with smoking.
Review article
REFERENCE 2 (bases 1 to 1317)
AUTHORS Jimenez-Jimenez FJ, Alonso-Navarro H, Garcia-Martin E and Agundez
JA.
TITLE NAT2 polymorphisms and risk for Parkinson's disease: a systematic
review and meta-analysis
JOURNAL Expert Opin Drug Metab Toxicol 12 (8), 937-946 (2016)
PUBMED 27216438
REMARK GeneRIF: Data on NAT2 gene polymorphisms obtained from the current
meta-analysis do not support a major association with Parkinson's
diease risk, except in Asian populations
Review article
REFERENCE 3 (bases 1 to 1317)
AUTHORS Suarez-Kurtz G, Fuchshuber-Moraes M, Struchiner CJ and Parra EJ.
TITLE Single nucleotide polymorphism coverage and inference of
N-acetyltransferase-2 acetylator phenotypes in wordwide population
groups
JOURNAL Pharmacogenet. Genomics 26 (8), 363-369 (2016)
PUBMED 27136043
REMARK GeneRIF: Single nucleotide polymorphism is associated with
different N-acetyltransferase-2 acetylator phenotypes in wordwide
population groups.
REFERENCE 4 (bases 1 to 1317)
AUTHORS Chamorro JG, Castagnino JP, Musella RM, Nogueras M, Frias A, Visca
M, Aidar O, Costa L and de Larranaga GF.
TITLE tagSNP rs1495741 as a useful molecular marker to predict
antituberculosis drug-induced hepatotoxicity
JOURNAL Pharmacogenet. Genomics 26 (7), 357-361 (2016)
PUBMED 27104815
REMARK GeneRIF: NAT2 gene variants were associated with antituberculosis
drug-induced hepatotoxicity.
REFERENCE 5 (bases 1 to 1317)
AUTHORS Vatsis KP, Weber WW, Bell DA, Dupret JM, Evans DA, Grant DM, Hein
DW, Lin HJ, Meyer UA, Relling MV et al.
TITLE Nomenclature for N-acetyltransferases
JOURNAL Pharmacogenetics 5 (1), 1-17 (1995)
PUBMED 7773298
REMARK Review article
REFERENCE 6 (bases 1 to 1317)
AUTHORS Hickman D, Risch A, Camilleri JP 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 1317)
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 1317)
AUTHORS Grant DM, Blum M and Meyer UA.
TITLE Polymorphisms of N-acetyltransferase genes
JOURNAL Xenobiotica 22 (9-10), 1073-1081 (1992)
PUBMED 1441598
REFERENCE 9 (bases 1 to 1317)
AUTHORS Blum M, Grant DM, McBride W, Heim M and Meyer UA.
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 1317)
AUTHORS Grant DM, Lottspeich F and Meyer UA.
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 AC025062.6, D90042.1 and
AI460128.1.
This sequence is a reference standard in the RefSeqGene project.
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 arylamine
N-acetyltransferase gene (NAT1) is located near this gene (NAT2).
[provided by RefSeq, Jul 2008].
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 :: D90042.1, BC067218.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1966682, SAMEA1968540
[ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
FEATURES Location/Qualifiers
source 1..1317
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="8"
/map="8p22"
gene 1..1317
/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"
CDS 108..980
/gene="NAT2"
/gene_synonym="AAC2; NAT-2; PNAT"
/EC_number="2.3.1.5"
/note="arylamide acetylase 2; N-acetyltransferase 2
(arylamine N-acetyltransferase); N-acetyltransferase type
2"
/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"
misc_feature 423..428
/gene="NAT2"
/gene_synonym="AAC2; NAT-2; PNAT"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P11245.1);
Region: Substrate binding. {ECO:0000305}"
regulatory 1301..1306
/regulatory_class="polyA_signal_sequence"
/gene="NAT2"
/gene_synonym="AAC2; NAT-2; PNAT"
BASE COUNT 418 a 252 c 263 g 384 t
ORIGIN
1 tgagatcact tcccttgcag actttggaag ggagagcact ttattacaga ccttggaagc
61 aagaggattg cattcagcct agttcctggt tgctggccaa agggatcatg gacattgaag
121 catattttga aagaattggc tataagaact ctaggaacaa attggacttg gaaacattaa
181 ctgacattct tgagcaccag atccgggctg ttccctttga gaaccttaac atgcattgtg
241 ggcaagccat ggagttgggc ttagaggcta tttttgatca cattgtaaga agaaaccggg
301 gtgggtggtg tctccaggtc aatcaacttc tgtactgggc tctgaccaca atcggttttc
361 agaccacaat gttaggaggg tatttttaca tccctccagt taacaaatac agcactggca
421 tggttcacct tctcctgcag gtgaccattg acggcaggaa ttacattgtc gatgctgggt
481 ctggaagctc ctcccagatg tggcagcctc tagaattaat ttctgggaag gatcagcctc
541 aggtgccttg cattttctgc ttgacagaag agagaggaat ctggtacctg gaccaaatca
601 ggagagagca gtatattaca aacaaagaat ttcttaattc tcatctcctg ccaaagaaga
661 aacaccaaaa aatatactta tttacgcttg aacctcgaac aattgaagat tttgagtcta
721 tgaatacata cctgcagacg tctccaacat cttcatttat aaccacatca ttttgttcct
781 tgcagacccc agaaggggtt tactgtttgg tgggcttcat cctcacctat agaaaattca
841 attataaaga caatacagat ctggtcgagt ttaaaactct cactgaggaa gaggttgaag
901 aagtgctgag aaatatattt aagatttcct tggggagaaa tctcgtgccc aaacctggtg
961 atggatccct tactatttag aataaggaac aaaataaacc cttgtgtatg tatcacccaa
1021 ctcactaatt atcaacttat gtgctatcag atatcctctc taccctcacg ttattttgaa
1081 gaaaatccta aacatcaaat actttcatcc ataaaaatgt cagcatttat taaaaaacaa
1141 taacttttta aagaaacata aggacacatt ttcaaattaa taaaaataaa ggcattttaa
1201 ggatggcctg tgattatctt gggaagcaga gtgattcatg ctagaaaaca tttaatattg
1261 atttattgtt gaattcatag taaattttta ctggtaaatg aataaagaat attgtgg
//