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    NAT1 N-acetyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 9, updated on 15-Jun-2019

    Summary

    Official Symbol
    NAT1provided by HGNC
    Official Full Name
    N-acetyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:7645
    See related
    Ensembl:ENSG00000171428 MIM:108345
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AAC1; MNAT; NATI; NAT-1
    Summary
    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]
    Annotation information
    Note: Loci in other organisms that are functionally homologous to this one are validly referred to as both NAT1 and NAT2; i.e., the functional homologs of NAT1 include mouse and rat Nat2, while the functional homologs of human NAT2 include mouse and rat Nat1. Name:sequence associations are consistent with current use in the field. [13 Feb 2013]
    Expression
    Ubiquitous expression in colon (RPKM 3.6), duodenum (RPKM 2.9) and 23 other tissues See more
    Orthologs

    Genomic context

    See NAT1 in Genome Data Viewer
    Location:
    8p22
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (18170419..18223689)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (18027971..18081198)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929066 Neighboring gene abraxas 1, BRCA1 A complex subunit pseudogene Neighboring gene mitochondrial ribosomal protein S18C pseudogene 3 Neighboring gene MT-ND4L pseudogene 26 Neighboring gene tRNA-Lys (TTT) 17-1 Neighboring gene N-acetyltransferase pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    arylamine N-acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    arylamine N-acetyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    arylamine N-acetyltransferase 1
    Names
    N-acetyltransferase 1 (arylamine N-acetyltransferase)
    N-acetyltransferase type 1
    arylamide acetylase 1
    monomorphic arylamine N-acetyltransferase
    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
    NP_001278891.1
    XP_006716473.1
    XP_011542989.1
    XP_011542990.1
    XP_011542991.1
    XP_016869436.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012245.2 RefSeqGene

      Range
      5001..58228
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000662.8NP_000653.3  arylamine N-acetyltransferase 1 isoform a

      See identical proteins and their annotated locations for NP_000653.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as Type IIA) lacks two alternate exons in the 5' UTR, compared to variant 1, and is the predominant transcript. This variant is transcribed from a promoter known as P1, promoter 2, or NATb promoter. Variants 1-6 and 9 all encode the same isoform (a).
      Source sequence(s)
      BC047666, BG655073, BU753390, BX647521
      Consensus CDS
      CCDS6007.1
      UniProtKB/Swiss-Prot
      P18440
      Related
      ENSP00000307218.4, ENST00000307719.9
      Conserved Domains (1) summary
      pfam00797
      Location:20280
      Acetyltransf_2; N-acetyltransferase
    2. NM_001160170.4NP_001153642.1  arylamine N-acetyltransferase 1 isoform a

      See identical proteins and their annotated locations for NP_001153642.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript but encodes the shorter isoform (a). This variant is transcribed from a promoter known as P1, promoter 2, or NATb promoter. Variants 1-6 and 9 all encode the same isoform (a).
      Source sequence(s)
      AJ581138, BG655073, BG941635, BU753390, BX647521
      Consensus CDS
      CCDS6007.1
      UniProtKB/Swiss-Prot
      P18440
      UniProtKB/TrEMBL
      Q400J6
      Conserved Domains (1) summary
      pfam00797
      Location:20280
      Acetyltransf_2; N-acetyltransferase
    3. NM_001160171.4NP_001153643.1  arylamine N-acetyltransferase 1 isoform a

      See identical proteins and their annotated locations for NP_001153643.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as Type IID) lacks an alternate exon in the 5' UTR, compared to variant 1. This variant is transcribed from a promoter known as P1, promoter 2, or NATb promoter. Variants 1-6 and 9 all encode the same isoform (a).
      Source sequence(s)
      BC013732, BG655073, BU753390, BX647521
      Consensus CDS
      CCDS6007.1
      UniProtKB/Swiss-Prot
      P18440
      Related
      ENSP00000428270.1, ENST00000518029.5
      Conserved Domains (1) summary
      pfam00797
      Location:20280
      Acetyltransf_2; N-acetyltransferase
    4. NM_001160172.4NP_001153644.1  arylamine N-acetyltransferase 1 isoform a

      See identical proteins and their annotated locations for NP_001153644.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR, compared to variant 1. This variant is transcribed from a promoter known as P1, promoter 2, or NATb promoter. Variants 1-6 and 9 all encode the same isoform (a).
      Source sequence(s)
      AJ581137, BG655073, BG941635, BU753390, BX647521
      Consensus CDS
      CCDS6007.1
      UniProtKB/Swiss-Prot
      P18440
      UniProtKB/TrEMBL
      Q400J6
      Conserved Domains (1) summary
      pfam00797
      Location:20280
      Acetyltransf_2; N-acetyltransferase
    5. NM_001160173.3NP_001153645.1  arylamine N-acetyltransferase 1 isoform a

      See identical proteins and their annotated locations for NP_001153645.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as Type IIC) lacks an alternate exon in the 5' UTR, compared to variant 1. This variant is transcribed from a promoter known as P1, promoter 2, or NATb promoter. Variants 1-6 and 9 all encode the same isoform (a).
      Source sequence(s)
      AJ581136, BG655073, BG941635, BU753390, BX647521
      Consensus CDS
      CCDS6007.1
      UniProtKB/Swiss-Prot
      P18440
      UniProtKB/TrEMBL
      Q400J6
      Related
      ENSP00000440900.1, ENST00000541942.1
      Conserved Domains (1) summary
      pfam00797
      Location:20280
      Acetyltransf_2; N-acetyltransferase
    6. NM_001160174.2NP_001153646.1  arylamine N-acetyltransferase 1 isoform a

      See identical proteins and their annotated locations for NP_001153646.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6, also known as Type IIIA) represents use of an alternate promoter and differs in the 5' UTR, compared to variant 1. This variant is transcribed from a promoter immediately upstream of the coding exon known as P4 or promoter 1. Variants 1-6 and 9 all encode the same isoform (a).
      Source sequence(s)
      AC124242, AJ581141, BU753390, BX647521, KC877218
      Consensus CDS
      CCDS6007.1
      UniProtKB/Swiss-Prot
      P18440
      UniProtKB/TrEMBL
      Q400J6
      Related
      ENSP00000429341.1, ENST00000520546.1
      Conserved Domains (1) summary
      pfam00797
      Location:20280
      Acetyltransf_2; N-acetyltransferase
    7. NM_001160175.4NP_001153647.1  arylamine N-acetyltransferase 1 isoform b

      See identical proteins and their annotated locations for NP_001153647.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate 5' non-coding exon and includes an additional exon resulting in translation from an alternate start codon, compared to variant 1. The resulting isoform (b) has a longer N-terminus, compared to isoform a. Variants 7, 8 and 10 all encode isoform b. This variant is transcribed from a promoter known as P1, promoter 2, or NATb promoter.
      Source sequence(s)
      AJ581139, BG655073, BG941635, BU753390, BX647521
      Consensus CDS
      CCDS55205.1
      UniProtKB/TrEMBL
      F5H5R8, Q400J6
      Conserved Domains (1) summary
      pfam00797
      Location:82342
      Acetyltransf_2; N-acetyltransferase
    8. NM_001160176.4NP_001153648.1  arylamine N-acetyltransferase 1 isoform b

      See identical proteins and their annotated locations for NP_001153648.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8, also known as Type IIB) lacks two alternate 5' non-coding exons and includes an additional exon resulting in translation from an alternate start codon, compared to variant 1. The resulting isoform (b) has a longer N-terminus, compared to isoform a. Variants 7, 8 and 10 all encode isoform b. This variant is transcribed from a promoter known as P1, promoter 2, or NATb promoter.
      Source sequence(s)
      AC124242, BG655073, BU753390, BX647521
      Consensus CDS
      CCDS55205.1
      UniProtKB/TrEMBL
      F5H5R8
      Related
      ENSP00000443194.1, ENST00000545197.2
      Conserved Domains (1) summary
      pfam00797
      Location:82342
      Acetyltransf_2; N-acetyltransferase
    9. NM_001160179.3NP_001153651.1  arylamine N-acetyltransferase 1 isoform a

      See identical proteins and their annotated locations for NP_001153651.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9, also known as Type IA) has a distinct 5' UTR and represents use of an alternate promoter known as the NATa or P3 promoter, compared to variant 1. Variants 1-6 and 9 all encode the same isoform (a).
      Source sequence(s)
      AC124242, BU753390, BX647521, CD702544, KC877218
      Consensus CDS
      CCDS6007.1
      UniProtKB/Swiss-Prot
      P18440
      Conserved Domains (1) summary
      pfam00797
      Location:20280
      Acetyltransf_2; N-acetyltransferase
    10. NM_001291962.2NP_001278891.1  arylamine N-acetyltransferase 1 isoform b

      See identical proteins and their annotated locations for NP_001278891.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10, also known as Type IB) contains alternate 5' exon structure and it thus differs in the 5' UTR and initiates translation from an alternate start codon, compared to variant 1. The resulting isoform (b) has a longer N-terminus, compared to isoform a. This variant is transcribed from a promoter known as P1, promoter 2, or NATb promoter. Variants 7, 8 and 10 all encode isoform b. This variant is transcribed from an alternate promoter known as the NATa or P3 promoter.
      Source sequence(s)
      AC124242, BM924372, BU753390, BX647521
      Consensus CDS
      CCDS55205.1
      UniProtKB/TrEMBL
      F5H5R8
      Conserved Domains (1) summary
      pfam00797
      Location:82342
      Acetyltransf_2; N-acetyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      18170419..18223689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013947.1XP_016869436.1  arylamine N-acetyltransferase 1 isoform X1

      UniProtKB/TrEMBL
      F5H5R8
      Conserved Domains (1) summary
      pfam00797
      Location:82342
      Acetyltransf_2; N-acetyltransferase
    2. XM_011544687.1XP_011542989.1  arylamine N-acetyltransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011542989.1

      UniProtKB/TrEMBL
      F5H5R8
      Conserved Domains (1) summary
      pfam00797
      Location:82342
      Acetyltransf_2; N-acetyltransferase
    3. XM_011544688.1XP_011542990.1  arylamine N-acetyltransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011542990.1

      UniProtKB/TrEMBL
      F5H5R8
      Conserved Domains (1) summary
      pfam00797
      Location:82342
      Acetyltransf_2; N-acetyltransferase
    4. XM_006716410.3XP_006716473.1  arylamine N-acetyltransferase 1 isoform X2

      See identical proteins and their annotated locations for XP_006716473.1

      UniProtKB/Swiss-Prot
      P18440
      Conserved Domains (1) summary
      pfam00797
      Location:20280
      Acetyltransf_2; N-acetyltransferase
    5. XM_011544689.2XP_011542991.1  arylamine N-acetyltransferase 1 isoform X2

      See identical proteins and their annotated locations for XP_011542991.1

      UniProtKB/Swiss-Prot
      P18440
      Conserved Domains (1) summary
      pfam00797
      Location:20280
      Acetyltransf_2; N-acetyltransferase
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