Arylamine N-acetyltransferase 2 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot P11245 (ARY2_HUMAN)

Last modified November 25, 2008. Version 91. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Arylamine N-acetyltransferase 2
    EC=2.3.1.5
Alternative name(s):
    Arylamide acetylase 2
    Polymorphic arylamine N-acetyltransferase
      Short name=PNAT
    N-acetyltransferase type 2
      Short name=NAT-2

Gene names

Name:	NAT2
Synonyms:	AAC2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	290 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

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.
Involvement in disease	Genetic variations in NAT2 determine N-acetylation polymorphism by a low or high NAT activity in the liver [MIM:243400]. It has been implicated in the action and toxicity of amine-containing drugs, and in the susceptibility to bladder cancer and systemic lupus erythematosus. This isozyme is responsible for this polymorphism.
Sequence similarities	Belongs to the arylamine N-acetyltransferase family.

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Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Polymorphism
Molecular function	Acyltransferase Transferase
PTM	Phosphoprotein
Technical term	3D-structure Direct protein sequencing
Gene Ontology (GO)
Biological process	metabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	cytosol Inferred from Experiment. Source: Reactome
Molecular function	arylamine N-acetyltransferase activity Ref.2 Traceable author statement. Source: ProtInc
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 290

290

Arylamine N-acetyltransferase 2

PRO_0000107905

Sites

Active site

Acyl-thioester intermediate By similarity

Active site

107

By similarity

Active site

122

By similarity

Amino acid modifications

Modified residue

246

Phosphotyrosine By similarity

Natural variations

Natural variant

L → I: dbSNP rs45477599.

VAR_018853

Natural variant

R → Q in allele NAT2*14A, allele NAT2*14B, allele NAT2*14C, allele NAT2*14D, allele NAT2*14E, allele NAT2*14F and allele NAT2*14G; a slow acetylator. dbSNP rs1801279.

VAR_004608

Natural variant

R → W in allele NAT2*19. dbSNP rs1805158.

VAR_009075

Natural variant

114

I → T in allele NAT2*5A, allele NAT2*5B, allele NAT2*5C, allele NAT2*5D, allele NAT2*5E, allele NAT2*5F, allele NAT2*14B and allele NAT2*14E; a slow acetylator. dbSNP rs1801280.

VAR_004609

Natural variant

122

D → N: dbSNP rs4986996.

VAR_020385

Natural variant

135

L → V: dbSNP rs12720065.

VAR_046905

Natural variant

137

L → F: dbSNP rs4986997.

VAR_020386

Natural variant

145

Q → P in allele NAT2*17.

VAR_009076

Natural variant

193

T → M

VAR_028781

Natural variant

197

R → Q in allele NAT2*5E, allele NAT2*6A, allele NAT2*6B, allele NAT2*6C, allele NAT2*6D and allele NAT2*14D; a slow acetylator. dbSNP rs1799930.

VAR_004610

Natural variant

208

Y → H: dbSNP rs56387565.

VAR_028782

Natural variant

228

P → L: dbSNP rs45518335.

VAR_018854

Natural variant

268

K → R in allele NAT2*5B, allele NAT2*5C, allele NAT2*5F, allele NAT2*6C, allele NAT2*12A, allele NAT2*14B, allele NAT2*14C, allele NAT2*14E, allele NAT2*14F and allele NAT2*14G. dbSNP rs1208.

VAR_004611

Natural variant

282

K → T in allele NAT2*18. dbSNP rs56054745.

VAR_009077

Natural variant

286

G → E in allele NAT2*7A and allele NAT2*7B; a slow acetylator. dbSNP rs1799931.

VAR_004612

Experimental info

Sequence conflict

Y → D in CAG28559. Ref.13

Sequence conflict

H → T AA sequence Ref.17

Sequence conflict

286

G → R Ref.9

Secondary structure

290

Helix Strand Turn

Details...

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Sequences

Sequence

Length

Mass (Da)

Tools

P11245-1 [UniParc].

Last modified July 1, 1989. Version 1.
Checksum: 63EE3BC2107F12B9
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FASTA

290

33,542

        10         20         30         40         50         60 
MDIEAYFERI GYKNSRNKLD LETLTDILEH QIRAVPFENL NMHCGQAMEL GLEAIFDHIV 

        70         80         90        100        110        120 
RRNRGGWCLQ VNQLLYWALT TIGFQTTMLG GYFYIPPVNK YSTGMVHLLL QVTIDGRNYI 

       130        140        150        160        170        180 
VDAGSGSSSQ MWQPLELISG KDQPQVPCIF CLTEERGIWY LDQIRREQYI TNKEFLNSHL 

       190        200        210        220        230        240 
LPKKKHQKIY LFTLEPRTIE DFESMNTYLQ TSPTSSFITT SFCSLQTPEG VYCLVGFILT 

       250        260        270        280        290 
YRKFNYKDNT DLVEFKTLTE EEVEEVLKNI FKISLGRNLV PKPGDGSLTI

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Nucleotide sequence of an intronless gene for a human arylamine N-acetyltransferase related to polymorphic drug acetylation." Grant D.M., Blum M., Demierre A., Meyer U.A. Nucleic Acids Res. 17:3978-3978(1989) [PubMed: 2734109] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Human arylamine N-acetyltransferase genes: isolation, chromosomal localization, and functional expression." Blum M., Grant D.M., McBride W., Heim M., Meyer U.A. DNA Cell Biol. 9:193-203(1990) [PubMed: 2340091] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"Cloning and expression of cDNAs for polymorphic and monomorphic arylamine N-acetyltransferases from human liver." Ohsako S., Deguchi T. J. Biol. Chem. 265:4630-4634(1990) [PubMed: 1968463] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLU-286. Tissue: Liver.
[4]	"Sequences and expression of alleles of polymorphic arylamine N-acetyltransferase of human liver." Deguchi T. J. Biol. Chem. 267:18140-18147(1992) [PubMed: 1381364] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (NAT2*6D), VARIANTS GLN-197 AND GLU-286. Tissue: Liver.
[5]	"Cloning, expression, and functional characterization of two mutant (NAT2(191) and NAT2(341/803)) and wild-type human polymorphic N-acetyltransferase (NAT2) alleles." Ferguson R.J., Doll M.A., Rustan T.D., Gray K., Hein D.W. Drug Metab. Dispos. 22:371-376(1994) [PubMed: 7915226] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (NAT25C AND NAT214), VARIANTS GLN-64; THR-114 AND ARG-268.
[6]	"Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes." Patin E., Barreiro L.B., Sabeti P.C., Austerlitz F., Luca F., Sajantila A., Behar D.M., Semino O., Sakuntabhai A., Guiso N., Gicquel B., McElreavey K., Harding R.M., Heyer E., Quintana-Murci L. Am. J. Hum. Genet. 78:423-436(2006) [PubMed: 16416399] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-24; GLN-64; THR-114; MET-193; GLN-197; HIS-208; ARG-268 AND GLU-286.
[7]	Doll M.A., Satran S.L., Hein D.W. Submitted (MAY-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (NAT2*12A), VARIANT ARG-268.
[8]	Leff M.A., Doll M.A., Feng Y., Fretland A.J., Hein D.W. Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (NAT25D; NAT26D; NAT2*14G), VARIANTS GLN-64; THR-114; GLN-197 AND ARG-268.
[9]	"A novel linkage of two NAT2 mutations." Banerjee M., Anitha A. Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-114.
[10]	"A novel allele showing linkage with 282, 341, 481, 803 point mutaions in the NAT2 gene." Pillai A.A., Banerjee M. Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-114 AND ARG-268.
[11]	"A novel NAT2 allele with point mutations 341, 481, 803, 859 in the ethnic populations of Kerala." Pillai A.A., Banerjee M. Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-114 AND ARG-268.
[12]	Doll M.A., Zang Y., Yeager M., Welch R., Chanock S., Hein D.W. Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-114; ASN-122; PHE-137 AND ARG-268.
[13]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[14]	"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)." Rieder M.J., Livingston R.J., Daniels M.R., Montoya M.A., Chung M.-W., Miyamoto K.E., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D., Schackwitz W.S., Sherwood J.K., Witrak L.A., Nickerson D.A. Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-24; GLN-64; THR-114; GLN-197; LEU-228; ARG-268 AND GLU-286.
[15]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-197. Tissue: Liver.
[16]	"Structure and restriction fragment length polymorphism of genes for human liver arylamine N-acetyltransferases." Ebisawa T., Deguchi T. Biochem. Biophys. Res. Commun. 177:1252-1257(1991) [PubMed: 1676262] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-22.
[17]	"Evidence for two closely related isozymes of arylamine N-acetyltransferase in human liver." Grant D.M., Lottspeich F., Meyer U.A. FEBS Lett. 244:203-207(1989) [PubMed: 2924904] [Abstract] Cited for: PROTEIN SEQUENCE OF 18-33 AND 189-197.
[18]	"Diverse point mutations in the human gene for polymorphic N-acetyltransferase." Vatsis K.P., Martell K.J., Weber W.W. Proc. Natl. Acad. Sci. U.S.A. 88:6333-6337(1991) [PubMed: 2068113] [Abstract] Cited for: VARIANTS.
[19]	"The structure and characteristics of a fourth allele of polymorphic N-acetyltransferase gene found in the Japanese population." Abe M., Deguchi T., Suzuki T. Biochem. Biophys. Res. Commun. 191:811-816(1993) [PubMed: 8466518] [Abstract] Cited for: VARIANTS.
[20]	"Ethnic distribution of slow acetylator mutations in the polymorphic N-acetyltransferase (NAT2) gene." Lin H.J., Han C.Y., Lin B.K., Hardy S. Pharmacogenetics 4:125-134(1994) [PubMed: 7920692] [Abstract] Cited for: VARIANTS NAT217 PRO-145 AND NAT218 THR-282.
+	Additional computationally mapped references.

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Web resources

NAT

NAT alleles

SHMPD

The Singapore human mutation and polymorphism database

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Cross-references

Sequence databases

X14672 Genomic DNA. Translation: CAA32802.1.
D90040 mRNA. Translation: BAA14094.1.
D90042 mRNA. Translation: BAA14096.1.
D10870 Genomic DNA. Translation: BAA01640.1.
D10871 Genomic DNA. Translation: BAA01641.1.
D10872 Genomic DNA. Translation: BAA01642.1.
U23052 Genomic DNA. Translation: AAA64584.1.
U23434 Genomic DNA. Translation: AAA64585.1.
DQ305496 Genomic DNA. Translation: ABC26032.1.
DQ305497 Genomic DNA. Translation: ABC26033.1.
DQ305498 Genomic DNA. Translation: ABC26034.1.
DQ305499 Genomic DNA. Translation: ABC26035.1.
DQ305500 Genomic DNA. Translation: ABC26036.1.
DQ305501 Genomic DNA. Translation: ABC26037.1.
DQ305502 Genomic DNA. Translation: ABC26038.1.
DQ305503 Genomic DNA. Translation: ABC26039.1.
DQ305504 Genomic DNA. Translation: ABC26040.1.
DQ305505 Genomic DNA. Translation: ABC26041.1.
DQ305506 Genomic DNA. Translation: ABC26042.1.
DQ305507 Genomic DNA. Translation: ABC26043.1.
DQ305508 Genomic DNA. Translation: ABC26044.1.
DQ305509 Genomic DNA. Translation: ABC26045.1.
DQ305510 Genomic DNA. Translation: ABC26046.1.
DQ305511 Genomic DNA. Translation: ABC26047.1.
DQ305512 Genomic DNA. Translation: ABC26048.1.
DQ305513 Genomic DNA. Translation: ABC26049.1.
DQ305514 Genomic DNA. Translation: ABC26050.1.
DQ305515 Genomic DNA. Translation: ABC26051.1.
DQ305516 Genomic DNA. Translation: ABC26052.1.
DQ305517 Genomic DNA. Translation: ABC26053.1.
DQ305518 Genomic DNA. Translation: ABC26054.1.
DQ305519 Genomic DNA. Translation: ABC26055.1.
DQ305520 Genomic DNA. Translation: ABC26056.1.
DQ305521 Genomic DNA. Translation: ABC26057.1.
DQ305522 Genomic DNA. Translation: ABC26058.1.
DQ305523 Genomic DNA. Translation: ABC26059.1.
DQ305524 Genomic DNA. Translation: ABC26060.1.
DQ305525 Genomic DNA. Translation: ABC26061.1.
DQ305526 Genomic DNA. Translation: ABC26062.1.
DQ305527 Genomic DNA. Translation: ABC26063.1.
DQ305528 Genomic DNA. Translation: ABC26064.1.
DQ305529 Genomic DNA. Translation: ABC26065.1.
DQ305530 Genomic DNA. Translation: ABC26066.1.
DQ305531 Genomic DNA. Translation: ABC26067.1.
DQ305532 Genomic DNA. Translation: ABC26068.1.
DQ305533 Genomic DNA. Translation: ABC26069.1.
DQ305534 Genomic DNA. Translation: ABC26070.1.
DQ305535 Genomic DNA. Translation: ABC26071.1.
DQ305536 Genomic DNA. Translation: ABC26072.1.
DQ305537 Genomic DNA. Translation: ABC26073.1.
DQ305538 Genomic DNA. Translation: ABC26074.1.
DQ305539 Genomic DNA. Translation: ABC26075.1.
DQ305540 Genomic DNA. Translation: ABC26076.1.
DQ305541 Genomic DNA. Translation: ABC26077.1.
DQ305542 Genomic DNA. Translation: ABC26078.1.
DQ305543 Genomic DNA. Translation: ABC26079.1.
DQ305544 Genomic DNA. Translation: ABC26080.1.
DQ305545 Genomic DNA. Translation: ABC26081.1.
DQ305546 Genomic DNA. Translation: ABC26082.1.
DQ305547 Genomic DNA. Translation: ABC26083.1.
DQ305548 Genomic DNA. Translation: ABC26084.1.
DQ305549 Genomic DNA. Translation: ABC26085.1.
DQ305550 Genomic DNA. Translation: ABC26086.1.
DQ305551 Genomic DNA. Translation: ABC26087.1.
DQ305552 Genomic DNA. Translation: ABC26088.1.

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Sequence annotation (Features)

Molecule processing

Sites

Amino acid modifications

Natural variations

Experimental info

Secondary structure

Sequences

References

Web resources

Cross-references

Sequence databases