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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NAT1 Gene

protein-coding   GIFtS: 70
GCID: GC08P018031

N-Acetyltransferase 1 (Arylamine N-Acetyltransferase)


(Previous symbol: AAC1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
N-Acetyltransferase 1 (Arylamine N-Acetyltransferase)1 2     NAT-12 3
AAC11 2 3 5     N-Acetyltransferase Type 12 3
Arylamide Acetylase 12 3     EC 2.3.1.53 8
Monomorphic Arylamine N-Acetyltransferase2 3     NATI2
MNAT2 3     Arylamine N-Acetyltransferase 12

External Ids:    HGNC: 76451   Entrez Gene: 92   Ensembl: ENSG000001714287   OMIM: 1083455   UniProtKB: P184403   

Export aliases for NAT1 gene to outside databases

Previous GC identifers: GC08P017943 GC08P018130 GC08P018077 GC08P018111 GC08P016611 GC08P018029


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NAT1 Gene:
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)

GeneCards Summary for NAT1 Gene: 
NAT1 (N-acetyltransferase 1 (arylamine N-acetyltransferase)) is a protein-coding gene. Diseases associated with NAT1 include multiple chemical sensitivity, and drug-induced hepatitis, and among its related super-pathways are Phase II conjugation and Metabolic pathways. GO annotations related to this gene include arylamine N-acetyltransferase activity. An important paralog of this gene is NAT2.

UniProtKB/Swiss-Prot: ARY1_HUMAN, P18440
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

Gene Wiki entry for NAT1 (N-acetyltransferase 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_167187.1  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NAT1 gene promoter:
         GR   PPAR-gamma1   Sp1   GR-beta   Msx-1   GR-alpha   PPAR-gamma2   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNAT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NAT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NAT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p22   Ensembl cytogenetic band:  8p22   HGNC cytogenetic band: 8p22

NAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAT1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P018031:  view genomic region     (about GC identifiers)

Start:
18,027,986 bp from pter      End:
18,081,198 bp from pter
Size:
53,213 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ARY1_HUMAN, P18440 (See protein sequence)
Recommended Name: Arylamine N-acetyltransferase 1  
Size: 290 amino acids; 33899 Da
Subcellular location: Cytoplasm
Miscellaneous: NAT1 was historically considered to be monomorphic in nature but reports of allelic variations at
the NAT1 locus suggest that it is a polymorphically expressed enzyme
Caution: The allelic variation Ile-149 designated as NAT1*17 is part of the NAT1*11 allelic variation as reported
by the nomenclature committee
4 PDB 3D structures from and Proteopedia for NAT1:
2DSS (3D)        2GWU (3D)        2IJA (3D)        2PQT (3D)    
Secondary accessions: A8K4E7 O15159 O15300 Q546N1 Q96TE9

Explore the universe of human proteins at neXtProt for NAT1: NX_P18440

Explore proteomics data for NAT1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P18440

  • 4/9 DME Specific Peptides for NAT1 (P18440) (see all 9)
     GVHCLVG  SFCSLQT  ILQHQIRA  YIVDAGFG 

    NAT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NAT1 Protein Expression
    REFSEQ proteins (9 alternative transcripts): 
    NP_000653.3  NP_001153642.1  NP_001153643.1  NP_001153644.1  NP_001153645.1  NP_001153646.1  NP_001153647.1  NP_001153648.1  
    NP_001153651.1  

    ENSEMBL proteins: 
     ENSP00000307218   ENSP00000428270   ENSP00000429407   ENSP00000429341   ENSP00000443194  
     ENSP00000444609   ENSP00000440434   ENSP00000440900  
    Reactome Protein details: P18440
    Human Recombinant Protein Products for NAT1: 
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NAT1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for NAT1
    GenScript Custom Purified and Recombinant Proteins Services for NAT1
    Novus Biologicals NAT1 Proteins
    Novus Biologicals NAT1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for NAT1
    Cloud-Clone Corp. Proteins for NAT1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    NAT1 for ontologies           About GeneDecksing



    NAT1 Antibody Products: 
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    Novus Biologicals NAT1 Antibodies
    Abcam antibodies for NAT1
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    ThermoFisher Antibody for NAT1
    LSBio Antibodies in human, mouse, rat for NAT1 

    Assay Products for NAT1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for NAT1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NAT1 
    Cloud-Clone Corp. CLIAs for NAT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001447 Arylamine_N-AcTrfase

    Graphical View of Domain Structure for InterPro Entry P18440

    ProtoNet protein and cluster: P18440

    1 Blocks protein domain: IPB004081 Arylamine N-acetyltransferase signature

    UniProtKB/Swiss-Prot: ARY1_HUMAN, P18440
    Similarity: Belongs to the arylamine N-acetyltransferase family


    NAT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARY1_HUMAN, P18440
    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

         Genatlas biochemistry entry for NAT1:
    arylamine N-acetyltransferase 1,widely expressed,monomorphic,also involved in bladder carcinogenesis

         Enzyme Number (IUBMB): EC 2.3.1.51 2

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004060arylamine N-acetyltransferase activity IEA--
    GO:0016407acetyltransferase activity ----
         
    NAT1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NAT1:
     Decreased homologous recombina  Increased S DNA content 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nat2):
     embryogenesis  homeostasis/metabolism  nervous system  normal  reproductive system 
     vision/eye 

    NAT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nat1/Nat2Nat1/tm1Kss for NAT1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NAT1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NAT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NAT1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NAT1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NAT1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate NAT1
    SwitchGear 3'UTR luciferase reporter plasmidNAT1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NAT1
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of NAT1

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 9): NAT1 (NM_000662)
    Sino Biological Human cDNA Clone for NAT1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NAT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NAT1
    Sirion Biotech Customized lentivirus for stable overexpression of NAT1 
                         Customized lentivirus expression plasmids for stable overexpression of NAT1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAT1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NAT1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Biological oxidations
    Biological oxidations0.55
    metapathway biotransformation0.41
    Phase II conjugation0.55
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Drug metabolism - cytochrome P450
    Chemical carcinogenesis0.77
    4Caffeine Pathway, Pharmacokinetics
    Caffeine metabolism0.36
    5Glucuronidation
    Drug metabolism - other enzymes0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NAT1
        Arylamine metabolism
    metapathway biotransformation


    4        Reactome Pathways for NAT1
        Metabolism
    Biological oxidations
    Acetylation
    Phase II conjugation

    1 PharmGKB Pathway for NAT1
        Busulfan Pathway, Pharmacodynamics

    4         Kegg Pathways  (Kegg details for NAT1):
        Caffeine metabolism
    Drug metabolism - other enzymes
    Metabolic pathways
    Chemical carcinogenesis


    NAT1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NAT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/10 Interacting proteins for NAT1 (P184403 ENSP000003072184) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NAA10P412273, ENSP000004177634I2D: score=2 STRING: ENSP00000417763
    SNTA1Q134243I2D: score=1 
    CYP1A2ENSP000003420074STRING: ENSP00000342007
    CYP2A6ENSP000003011414STRING: ENSP00000301141
    XDHENSP000003687274STRING: ENSP00000368727
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0044281small molecule metabolic process TAS--

    NAT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NAT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NAT1 (ARY1)

    6 HMDB Compounds for NAT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Aminosalicylic acid3-Amino Salicylate (see all 16)570-23-0--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    AnilineAminobenzene (see all 16)62-53-3--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    N-AcetylarylamineN-Acetylarylamine 55576-55-1--
    Paraxanthine1,7-Dimethylxanthine (see all 2)611-59-6--

    1 DrugBank Compound for NAT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Sulfamethoxazole-- 723-46-6enzymesubstrate19515014

    10/51 Novoseek inferred chemical compound relationships for NAT1 gene (see all 51)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arylamine 97.6 180 8861781 (6), 11436130 (3), 9511183 (2), 16829624 (2) (see all 89)
    2-aminofluorene 89.7 10 16314733 (1), 16829624 (1), 8179482 (1), 9571233 (1) (see all 9)
    paba 88.8 47 11108798 (4), 10692486 (3), 7756106 (1), 7585581 (1) (see all 20)
    para aminosalicylic acid 80.6 20 9511182 (2), 7929420 (2), 9342682 (2), 10692486 (1) (see all 9)
    n-hydroxy-2-aminofluorene 80.5 4 8425184 (3), 8353847 (1)
    p-acetamidobenzoylglutamate 79.6 3 9839355 (1), 11113560 (1)
    sulfadiazine 77.9 20 1762071 (2), 7929420 (2), 7585581 (1), 10604942 (1) (see all 12)
    2-naphthylamine 76.6 1 8353847 (1)
    hydrazine 76.2 10 18288399 (1), 11108798 (1), 12832400 (1), 12878219 (1) (see all 6)
    phip 76.2 5 8179482 (1), 10381774 (1), 12618593 (1), 14601045 (1)

    3 PharmGKB related drug/compound annotations for NAT1 gene    About this table
    Drug/compound PharmGKB Annotation
    isoniazid
    pyrazinamide
    rifampin

    Search CenterWatch for drugs/clinical trials and news about NAT1 / ARY1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NAT1 gene (9 alternative transcripts): 
    NM_000662.5  NM_001160170.1  NM_001160171.1  NM_001160172.1  NM_001160173.1  NM_001160174.1  NM_001160175.1  NM_001160176.1  
    NM_001160179.1  

    Unigene Cluster for NAT1:

    N-acetyltransferase 1 (arylamine N-acetyltransferase)
    Hs.591847  [show with all ESTs]
    Unigene Representative Sequence: NM_001160170
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000517441 ENST00000307719(uc003wyq.3) ENST00000518029 ENST00000517574
    ENST00000519006 ENST00000517837 ENST00000517492 ENST00000520546(uc011kyl.2)
    ENST00000545197(uc003wyt.3 uc003wys.3) ENST00000535084(uc010ltd.3)
    ENST00000539092(uc003wyu.3 uc003wyv.3 uc003wyr.3) ENST00000541942(uc010ltc.3)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NAT1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate NAT1
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    Inhib. RNA
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    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NAT1
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NAT1

    Additional mRNA sequence: 

    AJ581135.1 AJ581136.1 AJ581137.1 AJ581138.1 AJ581139.1 AJ581140.1 AJ581141.1 AJ581142.1 
    AJ581143.1 AJ581151.2 AJ581153.1 AJ581154.1 AJ581155.1 AK290912.1 BC013732.1 BC047666.1 
    BX647521.1 D90041.1 S78829.1 

    10 DOTS entries:

    DT.95269815  DT.212955  DT.121491296  DT.75190644  DT.121491283  DT.100746983  DT.40261666  DT.92018326 
    DT.97824906  DT.121491295 

    24/65 AceView cDNA sequences (see all 65):

    BF594441 BG941635 NM_000662 CR596299 BQ231158 BM926650 D78248 BQ024509 
    BX647521 AI888631 BF034718 BG656530 BG654454 BC047666 BC013732 CD511345 
    D90041 BX112361 CB852436 AI022585 BU689480 BM924372 BU753390 T29485 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for NAT1 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f
    SP1:        -     -     -     -     -     -                                                   
    SP2:                    -     -     -     -                                                   
    SP3:                    -     -                 -                                             
    SP4:                                -     -     -                                             
    SP5:                                      -     -                                             


    ECgene alternative splicing isoforms for NAT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NAT1 expression in normal human tissues (normalized intensities)      NAT1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATCTTCTGT
    NAT1 Expression
    About this image


    NAT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Epithelium
             nasopharynx ; respiratory epithelial cells   
             nasal epithelium   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             253G4
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             nasopharynx ; respiratory epithelial cells   
             nasal epithelium   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             testis ; cells in seminiferus ducts   

    See NAT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NAT1

    SOURCE GeneReport for Unigene cluster: Hs.591847
        SABiosciences Expression via Pathway-Focused PCR Arrays including NAT1: 
              Cancer Drug Resistance in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat
              Drug Metabolism in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for NAT1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nat21 , 5 N-acetyltransferase 2 (arylamine N-acetyltransferase)1, 5 83.22(n)1
    82.07(a)1
      8 (33.38 cM)5
    179611  NM_001168577.11  NP_001162049.11 
     674948755 
    chicken
    (Gallus gallus)
    Aves PNAT101 arylamine N-acetyltransferase, pineal gland isozyme more 64.02(n)
    57.93(a)
      396283  NM_205340.1  NP_990671.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    53(a)
    1 → many
    GL343663.1(8584-9450)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7943811 arylamine N-acetyltransferase, pineal gland isozyme more 52.31(n)
    43.4(a)
      794381  XM_001334286.1  XP_001334322.1 


    ENSEMBL Gene Tree for NAT1 (if available)
    TreeFam Gene Tree for NAT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NAT1 gene
    NAT22  
    1 SIMAP similar gene for NAT1 using alignment to 7 protein entries:     ARY1_HUMAN (see all proteins):
    NAT2

    NAT1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NAT1
    PGOHUM00000260428


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ARY1_HUMAN, P18440
    Polymorphism: N-acetylation polymorphism is determined by a low or high NAT activity in liver and has been
    implicated in the action and toxicity of amine-containing drugs. Slow acetylation genotypes have been associated
    with significant lung cancer risk. Candidate risk factor for susceptibility to neural tube defects. The NAT1*10
    allele has been associated with increased risk of colon and urinary bladder cancers and with higher levels of
    N-acetyltransferase activity and DNA adducts in aromatic amine tumor target organs such as colon and urinary
    bladder


    10/1756 SNPs in NAT1 are shown (see all 1756)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs49870761,2,4
    C,F,Hpathogenic118334871(+) CTTGTG/ATCTTC 18 /I /V mis1 ese319Minor allele frequency- A:0.01MN NA NS EA EU 7495
    VAR_0090744
    ----see VAR_0090742 I V mis40--------
    VAR_0090704
    ----see VAR_0090702 M V mis40--------
    VAR_0090734
    ----see VAR_0090732 E K mis40--------
    rs2012802041,2
    C--16572706(+) TCTCCC/TTTTTT 1 -- int10--------
    rs743653021,2
    C--16604664(+) TAGAAG/-GGGGG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs339257131,2
    C--16617895(+) TTTTT-/TGCATA 8 -- int12Minor allele frequency- T:0.00NA CSA 4
    rs2012417161,2
    --16619140(+) GTTAA-/TTTACTC 8 -- int10--------
    rs65867151,2
    C,F,A--16619747(+) tcctgT/Ctatag 8 -- int114Minor allele frequency- C:0.41NA NS WA CSA EA 1210
    rs65867161,2
    C,F,A--16619748(+) cctgcC/Tataga 8 -- int18Minor allele frequency- T:0.41NA NS WA CSA EA 546

    HapMap Linkage Disequilibrium report for NAT1 (18027986 - 18081198 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for NAT1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2666024CNV Deletion23128226
    nsv831251CNV Loss17160897
    nsv890598CNV Loss21882294
    nsv522647CNV Loss19592680
    nsv890597CNV Gain21882294
    nsv428196CNV Gain18775914
    nsv890599CNV Gain21882294


    Human Gene Mutation Database (HGMD): NAT1

    Locus Specific Mutation Databases (LSDB): NAT1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 108345    OMIM disorders: --

    20/73 diseases for NAT1 (see all 73):    About MalaCards
    multiple chemical sensitivity    drug-induced hepatitis    talipes equinovarus    spina bifida
    substance abuse    neural tube defects    orofacial cleft    pancreatic diseases
    clubfoot    cleft palate    motor neuron disease    malignant pleural mesothelioma
    peptic ulcer    pharyngitis    gastric adenocarcinoma    laryngitis
    stomach cancer    albinism    colorectal cancer    non-hodgkin lymphoma

    1 disease from the University of Copenhagen DISEASES database for NAT1:
    Urinary bladder cancer

    NAT1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/36 Novoseek inferred disease relationships for NAT1 gene (see all 36)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bladder cancer 70.9 38 11431340 (4), 9107426 (4), 14564055 (4), 17026750 (2) (see all 17)
    colorectal cancer 54 38 16434594 (5), 7627961 (4), 9528834 (3), 15736440 (3) (see all 14)
    genetic susceptibility 51 5 18259988 (1), 10667461 (1), 12485520 (1)
    cancer 50.9 84 10667461 (5), 12351146 (3), 18259988 (2), 14672957 (2) (see all 48)
    breast cancer 27.7 51 20100460 (4), 12860276 (4), 10090301 (3), 17973251 (3) (see all 20)
    pancreatic cancer 25.6 14 15987714 (4), 18006927 (2), 9696930 (1), 11095579 (1) (see all 5)
    neural tube defects 25.6 2 10767335 (1)
    colon cancer 25.1 13 18022202 (4), 18569593 (2), 12568823 (1), 10493262 (1)
    lymphoblastic leukemia acute childhood 24.9 1 10868688 (1)
    cancer lung 22.9 17 9731715 (4), 9626964 (3), 16835348 (1), 18258609 (1) (see all 6)

    Genetic Association Database (GAD): NAT1
    Human Genome Epidemiology (HuGE) Navigator: NAT1 (248 documents)

    Export disorders for NAT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NAT1 gene, integrated from 9 sources (see all 416):
    (articles sorted by number of sources associating them with NAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Loss of function polymorphisms in NAT1 protect against spina bifida. (PubMed id 16680433)1, 4, 9 Jensen L.E.... Whitehead A.S. (2006)
    2. Para-phenylenediamine and allergic sensitization: ris k modification by N-acetyltransferase 1 and 2 genotypes. (PubMed id 19663877)1, 4, 9 BlAPmeke B....Kawakubo Y. (2009)
    3. Characterization of N-acetyltransferase 1 and 2 polymorphisms and haplotype analysis for inflammatory bowel disease and sporadic colorectal carcinoma. (PubMed id 17537267)1, 4, 9 Mahid S.S....Galandiuk S. (2007)
    4. Are polymorphisms of N-acetyltransferase genes susceptible to primary liver cancer in Luoyang, China? (PubMed id 15770721)1, 4, 9 Zhang X.F....Tang B.M. (2005)
    5. Functional polymorphism of the human arylamine N-acetyltransferase type 1 gene caused by C190T and G560A mutations. (PubMed id 9511183)1, 2, 9 Butcher N.J.... Minchin R.F. (1998)
    6. NAT1 genotypes do not predict response to mesalamine in patients with ulcerative colitis. (PubMed id 18322880)1, 4, 9 Hausmann M....Rogler G. (2008)
    7. Modification by N-acetyltransferase 1 genotype on the association between dietary heterocyclic amines and colon cancer in a multiethnic study. (PubMed id 18022202)1, 4, 9 Butler L.M....Sandler R.S. (2008)
    8. Genetic variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2) and risk of non-Hodgkin lymphoma. (PubMed id 16847422)1, 4, 9 Morton L.M....Wang S.S. (2006)
    9. Effect of NAT1 and NAT2 genetic polymorphisms on colorectal cancer risk associated with exposure to tobacco smoke and meat consumption. (PubMed id 16434594)1, 4, 9 Lilla C....Chang-Claude J. (2006)
    10. Lack of association between endometriosis and N-acetyl transferase 1 (NAT1) and 2 (NAT2) polymorphisms in a Japanese population. (PubMed id 15784508)1, 4, 9 Deguchi M....Maruo T. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9 HGNC: 7645 AceView: NAT1 Ensembl:ENSG00000171428 euGenes: HUgn9
    ECgene: NAT1 Kegg: 9 H-InvDB: NAT1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NAT1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NAT1 Genetics and Cytogenetics in Oncology and Haematology
    NAThttp://www.louisville.edu/medschool/pharmacology/NAT.html
    NIEHS-SNPshttp://egp.gs.washington.edu/data/nat1/
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=NAT1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NAT1 gene:
    Search GeneIP for patents involving NAT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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