N-acetyltransferase 1 (original) (raw)

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Protein-coding gene in the species Homo sapiens

NAT1

Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes2IJA, 2PQT
Identifiers
Aliases	NAT1, AAC1, MNAT, NAT-1, NATI, N-acetyltransferase 1, N-acetyltransferase 1 (arylamine N-acetyltransferase)
External IDs	OMIM: 108345; MGI: 109201; HomoloGene: 37329; GeneCards: NAT1; OMA:NAT1 - orthologs
Gene location (Human)Chr.Chromosome 8 (human)[1]Band8p22Start18,170,477 bp [1]End18,223,689 bp [1]
Gene location (Mouse)Chr.Chromosome 8 (mouse)[2]Band8 B3.2\|8 33.38 cMStart67,947,510 bp [2]End67,955,236 bp [2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inbronchial epithelial cellmucosa of ileummucosa of colonmucosa of sigmoid colonepithelium of nasopharynxnasal epitheliumolfactory zone of nasal mucosajejunal mucosamucosa of paranasal sinusmucosa of transverse colonTop expressed injejunumfetal liver hematopoietic progenitor cellduodenumepithelium of stomachleft lobe of liverileumepithelium of small intestinelumbar spinal ganglionleft colonmucous cell of stomachMore reference expression data BioGPSn/a
Gene ontologyMolecular function arylamine N-acetyltransferase activity transferase activity acetyltransferase activity acyltransferase activity N-acetyltransferase activity Cellular component cytoplasm cytosol Biological process xenobiotic metabolic process metabolism Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez 9 17961 Ensembl ENSG00000171428 ENSMUSG00000051147 UniProt P18440 Q400J6 P50295RefSeq (mRNA)NM_000662 NM_001160170 NM_001160171 NM_001160172 NM_001160173 NM_001160174 NM_001160175 NM_001160176 NM_001160179 NM_001291962 NM_001168577 NM_010874RefSeq (protein)NP_000653 NP_001153642 NP_001153643 NP_001153644 NP_001153645 NP_001153646 NP_001153647 NP_001153648 NP_001153651 NP_001278891 NP_001153642.1 NP_001153644.1 NP_001153645.1 NP_001153646.1 NP_001153647.1 NP_001162049 NP_035004Location (UCSC)Chr 8: 18.17 – 18.22 Mb Chr 8: 67.95 – 67.96 Mb PubMed search[3][4]
Wikidata
View/Edit Human View/Edit Mouse

N-acetyltransferase 1 (arylamine N-acetyltransferase) is a protein that in humans is encoded by the NAT1 gene.[5]

This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat NAT2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011].[5]

^ a b c GRCh38: Ensembl release 89: ENSG00000171428 – Ensembl, May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051147 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ a b "Entrez Gene: N-acetyltransferase 1 (arylamine N-acetyltransferase)". Retrieved 2012-01-27.

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Smelt VA, Upton A, Adjaye J, Payton MA, Boukouvala S, Johnson N, Mardon HJ, Sim E (April 2000). "Expression of arylamine N-acetyltransferases in pre-term placentas and in human pre-implantation embryos". Human Molecular Genetics. 9 (7): 1101–7. doi:10.1093/hmg/9.7.1101. PMID 10767335.
Brockton N, Little J, Sharp L, Cotton SC (May 2000). "N-acetyltransferase polymorphisms and colorectal cancer: a HuGE review". American Journal of Epidemiology. 151 (9): 846–61. doi:10.1093/oxfordjournals.aje.a010289. PMID 10791558.
Lo-Guidice JM, Allorge D, Chevalier D, Debuysère H, Fazio F, Lafitte LJ, Broly F (June 2000). "Molecular analysis of the N-acetyltransferase 1 gene (NAT1*) using polymerase chain reaction-restriction fragment-single strand conformation polymorphism assay". Pharmacogenetics. 10 (4): 293–300. doi:10.1097/00008571-200006000-00003. PMID 10862520.
de León JH, Vatsis KP, Weber WW (August 2000). "Characterization of naturally occurring and recombinant human N-acetyltransferase variants encoded by NAT1". Molecular Pharmacology. 58 (2): 288–99. doi:10.1124/mol.58.2.288. PMID 10908296.
Yu MW, Pai CI, Yang SY, Hsiao TJ, Chang HC, Lin SM, Liaw YF, Chen PJ, Chen CJ (November 2000). "Role of N-acetyltransferase polymorphisms in hepatitis B related hepatocellular carcinoma: impact of smoking on risk". Gut. 47 (5): 703–9. doi:10.1136/gut.47.5.703. PMC 1728099. PMID 11034589.
Wikman H, Thiel S, Jäger B, Schmezer P, Spiegelhalder B, Edler L, Dienemann H, Kayser K, Schulz V, Drings P, Bartsch H, Risch A (March 2001). "Relevance of N-acetyltransferase 1 and 2 (NAT1, NAT2) genetic polymorphisms in non-small cell lung cancer susceptibility". Pharmacogenetics. 11 (2): 157–68. doi:10.1097/00008571-200103000-00006. PMID 11266080.
Krajinovic M, Ghadirian P, Richer C, Sinnett H, Gandini S, Perret C, Lacroix A, Labuda D, Sinnett D (April 2001). "Genetic susceptibility to breast cancer in French-Canadians: role of carcinogen-metabolizing enzymes and gene-environment interactions". International Journal of Cancer. 92 (2): 220–5. doi:10.1002/1097-0215(200102)9999:9999<::AID-IJC1184>3.0.CO;2-H. PMID 11291049. S2CID 19448901.
Sekine A, Saito S, Iida A, Mitsunobu Y, Higuchi S, Harigae S, Nakamura Y (2001). "Identification of single-nucleotide polymorphisms (SNPs) of human N-acetyltransferase genes NAT1, NAT2, AANAT, ARD1 and L1CAM in the Japanese population". Journal of Human Genetics. 46 (6): 314–9. doi:10.1007/s100380170065. PMID 11393533.
Butler WJ, Ryan P, Roberts-Thomson IC (June 2001). "Metabolic genotypes and risk for colorectal cancer". Journal of Gastroenterology and Hepatology. 16 (6): 631–5. doi:10.1046/j.1440-1746.2001.02501.x. PMID 11422615. S2CID 37057726.