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FLASH GENE
Symbol NAT1 contributors: - updated : 24-10-2006
HGNC name N-acetyltransferase 1 (arylamine N-acetyltransferase)
HGNC id 7645
Location 8p22      Physical location : 18.027.970 - 18.081.197
Synonym name arylamine N-acetyltransferase 1
Synonym symbol(s) AAC1
EC.number 2.3.1.5
DNA
TYPE functioning gene
STRUCTURE 13.00 kb     1 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site   transcription factor
text structure
  • coding region contained within a single exon but presence of nine separate exons, eight of which were located in the 5' non-coding region of NAT1
  • a 257 bp sequence producing maximal promoter activity, lacking a TATA box, but containing a consensus Sp1 site and a CAAT box, as well as several other putative transcription-factor-binding sites
  • MAPPING cloned Y linked   status confirmed
    Map pter - D8S261 - NAT1 - AACP - NAT2 ,D8S21 - cen
    Authors Matas (97)
    Physical map
    N33 8p22 hypothetical protein LOC286114 LOC137012 8p22 protein phosphatase 1A pseudogene LOC392202 8 similar to 60S ribosomal protein L32 MSR1 8p22 macrophage scavenger receptor 1 LOC392203 8 similar to matricin MRPL49P2 8p22 similar to matricin FGF20 8p22-p21.3 fibroblast growth factor 20 LOC286097 8p22 hypothetical protein LOC286097 ZDHHC2 8p21.3-p22 zinc finger, DHHC domain containing 2 CNOT7 8p22-p21.3 CCR4-NOT transcription complex, subunit 7 FLJ32642 8p22 hepatocellular carcinoma related protein 1 MTMR7 8p22 myotubularin related protein 7 LOC392204 8 similar to ADAM 25 precursor (A disintegrin and metalloproteinase domain 25) (Testase 2) SLC7A2 8p22-p21.3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 PDGFRL 8p22-p21.3 platelet-derived growth factor receptor-like MTSG1 8p22 mitochondrial tumor suppressor gene 1 LOC389636 8 LOC389636 FGL1 8p22-p21.3 fibrinogen-like 1 PCM1 8p22-p21.3 pericentriolar material 1 ASAH1 8p22-p21.3 N-acylsphingosine amidohydrolase (acid ceramidase) 1 MRPS18CP3 8p21.3 mitochondrial ribosomal protein S18C pseudogene 3 UNQ9391 8p23.1 tryptophan/serine protease NAT1 8p22 N-acetyltransferase 1 (arylamine N-acetyltransferase) LOC392205 8 similar to acetyltransferase LOC392206 8 similar to ribosomal protein L10a NAT2 8p22 N-acetyltransferase 2 (arylamine N-acetyltransferase) DKFZp761K1423 8p22 hypothetical protein DKFZp761K1423 EFA6R 8pter-p23.3 hypothetical protein DKFZp761K1423 LOC389637 8 LOC389637 LOC389638 8 LOC389638 LOC392207 8 similar to PMCA2av FLJ20967 8p21.2 hypothetical protein FLJ20967 ChGn 8p21.3 chondroitin beta1,4 N-acetylgalactosaminyltransferase FLJ10569 8p21.3 hypothetical protein FLJ10569 LPL 8p22 lipoprotein lipase SLC18A1 8p21.3 solute carrier family 18 (vesicular monoamine), member 1 ATP6V1B2 8p22 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2 LZTS1 8p22 leucine zipper, putative tumor suppressor 1 RNU3P2 8p21.3 RNA, U3 small nucleolar pseudogene 2 LOC286114 8p21.3 hypothetical protein LOC286114
    RNA
    TRANSCRIPTS type messenger
    text differential splicing produced at least eight unique mRNA isoforms that could be grouped according to the location of the first exon, which suggested that NAT1 expression occurs from three alternative promoters
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     liver    
    Endocrineneuroendocrinepituitary  highly
     parathyroid   highly
    Urinarybladder    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text in pre-implantation embryos at the blastocyst stage and in early placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Nat1
    Homologene
    FAMILY arylamine N-acetyltransferase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • drug-metabolizing enzyme active on carcinogenic arylamic p-aminobenzoil acid and the folate catabolite (pABGlu)
  • catalyzing the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    related resource Arylamine N-Acetyltransferase (Note- Not really a variation database but useful-lists alleles & nomenclature)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in bladder cancer
    Susceptibility
  • for gastric adenocarcinoma well-differentiated
  • to limb deficiency defects in the presence of maternal smoking
  • Variant & Polymorphism SNP increasing the risk of limb deficiency defects in the presence of maternal smoking
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS