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

    Gene ID: 9, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NAT1provided by HGNC
    Official Full Name
    N-acetyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:7645
    See related
    Ensembl:ENSG00000171428 MIM:108345; AllianceGenome:HGNC:7645
    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
    mouse all
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    Genomic context

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    See NAT1 in Genome Data Viewer
    Location:
    8p22
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (18170467..18223689)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (18437966..18491198)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (18027976..18081198)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ASAH1 antisense RNA 1 Neighboring gene ABRAXAS1 pseudogene 2 Neighboring gene MRPS18C pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 4415 Neighboring gene CRISPRi-validated cis-regulatory element chr8.526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:18006866-18007366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:18007367-18007867 Neighboring gene MT-ND4L pseudogene 26 Neighboring gene tRNA-Lys (TTT) 17-1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:18132039-18132538 Neighboring gene Sharpr-MPRA regulatory region 9780 Neighboring gene N-acetyltransferase pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The association of NAT1 polymorphisms and colorectal carcinoma risk: evidence from 20,000 subjects. Cai J, et al. Mol Biol Rep, 2012 Jul. PMID 22327651
    2. Lack of association of the N-acetyltransferase NAT1*10 allele with prostate cancer incidence, grade, or stage among smokers in Finland. Kidd LR, et al. Biochem Genet, 2011 Feb. PMID 20931357, Free PMC Article
    3. NAT1 inhibits liver metastasis of colorectal cancer by regulating EMT and glycolysis. Gu W, et al. Aging (Albany NY), 2024 Jun 24. PMID 38916406, Free PMC Article
    4. Functional effects of genetic polymorphisms in the N-acetyltransferase 1 coding and 3' untranslated regions. Zhu Y, et al. Birth Defects Res A Clin Mol Teratol, 2011 Feb. PMID 21290563, Free PMC Article
    5. Arylamine N-acetyltransferase-1 is highly expressed in breast cancers and conveys enhanced growth and resistance to etoposide in vitro. Adam PJ, et al. Mol Cancer Res, 2003 Sep. PMID 14517345

    See all (256) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NAT1 inhibits liver metastasis of colorectal cancer by regulating EMT and glycolysis.
      Title: NAT1 inhibits liver metastasis of colorectal cancer by regulating EMT and glycolysis.
    2. Upregulation of cytidine deaminase in NAT1 knockout breast cancer cells.
      Title: Upregulation of cytidine deaminase in NAT1 knockout breast cancer cells.
    3. Altered Arylamine N-acetyltransferase 1 and miR-1290 Levels in Childhood Acute Lymphoblastic Leukemia: A Pilot Study.
      Title: Altered Arylamine N-acetyltransferase 1 and miR-1290 Levels in Childhood Acute Lymphoblastic Leukemia: A Pilot Study.
    4. Arylamine N-acetyltransferase 1 deficiency inhibits drug-induced cell death in breast cancer cells: switch from cytochrome C-dependent apoptosis to necroptosis.
      Title: Arylamine N-acetyltransferase 1 deficiency inhibits drug-induced cell death in breast cancer cells: switch from cytochrome C-dependent apoptosis to necroptosis.
    5. Polymorphism in the human arylamine N-acetyltransferase 1 gene 3'-untranslated region determines polyadenylation signal usage.
      Title: Polymorphism in the human arylamine N-acetyltransferase 1 gene 3'-untranslated region determines polyadenylation signal usage.
    6. Deletion of arylamine N-acetyltransferase 1 in MDA-MB-231 human breast cancer cells reduces primary and secondary tumor growth in vivo with no significant effects on metastasis.
      Title: Deletion of arylamine N-acetyltransferase 1 in MDA-MB-231 human breast cancer cells reduces primary and secondary tumor growth in vivo with no significant effects on metastasis.
    7. NAT1 is a critical prognostic biomarker and inhibits proliferation of colorectal cancer through modulation of PI3K/Akt/mTOR.
      Title: NAT1 is a critical prognostic biomarker and inhibits proliferation of colorectal cancer through modulation of PI3K/Akt/mTOR.
    8. NAT1 genetic variation increases asthma risk in children with secondhand smoke exposure.
      Title: NAT1 genetic variation increases asthma risk in children with secondhand smoke exposure.
    9. MicroRNA-6744-5p promotes anoikis in breast cancer and directly targets NAT1 enzyme.
      Title: MicroRNA-6744-5p promotes anoikis in breast cancer and directly targets NAT1 enzyme.
    10. Effect arylamine N-acetyltransferase 1 on morphology, adhesion, migration, and invasion of MDA-MB-231 cells: role of matrix metalloproteinases and integrin alphaV.
      Title: Effect arylamine N-acetyltransferase 1 on morphology, adhesion, migration, and invasion of MDA-MB-231 cells: role of matrix metalloproteinases and integrin αV.
    Submit: New GeneRIF Correction See all GeneRIFs (135)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arylamine N-acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables arylamine N-acetyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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_011542991.1
    XP_047278353.1
    XP_047278354.1
    XP_047278355.1
    XP_054217432.1
    XP_054217433.1
    XP_054217434.1
    XP_054217435.1
    XP_054217436.1

    NCBI Reference Sequences (RefSeq)

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    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
      44648..58228
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000662.8 → NP_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
      A8K4E7, O15159, O15300, P18440, Q546N1, Q96TE9
      UniProtKB/TrEMBL
      Q9HAQ5
      Related
      ENSP00000307218.4, ENST00000307719.9
      Conserved Domains (1) summary
      pfam00797
      Location:20 → 280
      Acetyltransf_2; N-acetyltransferase

    2. NM_001160170.4 → NP_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
      A8K4E7, O15159, O15300, P18440, Q546N1, Q96TE9
      UniProtKB/TrEMBL
      Q9HAQ5
      Conserved Domains (1) summary
      pfam00797
      Location:20 → 280
      Acetyltransf_2; N-acetyltransferase

    3. NM_001160171.4 → NP_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
      A8K4E7, O15159, O15300, P18440, Q546N1, Q96TE9
      UniProtKB/TrEMBL
      Q9HAQ5
      Related
      ENSP00000428270.1, ENST00000518029.5
      Conserved Domains (1) summary
      pfam00797
      Location:20 → 280
      Acetyltransf_2; N-acetyltransferase

    4. NM_001160172.4 → NP_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
      A8K4E7, O15159, O15300, P18440, Q546N1, Q96TE9
      UniProtKB/TrEMBL
      Q9HAQ5
      Conserved Domains (1) summary
      pfam00797
      Location:20 → 280
      Acetyltransf_2; N-acetyltransferase

    5. NM_001160173.4 → NP_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
      A8K4E7, O15159, O15300, P18440, Q546N1, Q96TE9
      UniProtKB/TrEMBL
      Q9HAQ5
      Conserved Domains (1) summary
      pfam00797
      Location:20 → 280
      Acetyltransf_2; N-acetyltransferase

    6. NM_001160174.3 → NP_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
      A8K4E7, O15159, O15300, P18440, Q546N1, Q96TE9
      UniProtKB/TrEMBL
      Q9HAQ5
      Related
      ENSP00000429341.1, ENST00000520546.1
      Conserved Domains (1) summary
      pfam00797
      Location:20 → 280
      Acetyltransf_2; N-acetyltransferase

    7. NM_001160175.4 → NP_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, Q9HAQ5
      Related
      ENSP00000443194.1, ENST00000545197.3
      Conserved Domains (1) summary
      pfam00797
      Location:82 → 342
      Acetyltransf_2; N-acetyltransferase

    8. NM_001160176.4 → NP_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, Q9HAQ5
      Conserved Domains (1) summary
      pfam00797
      Location:82 → 342
      Acetyltransf_2; N-acetyltransferase

    9. NM_001160179.3 → NP_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
      A8K4E7, O15159, O15300, P18440, Q546N1, Q96TE9
      UniProtKB/TrEMBL
      Q9HAQ5
      Conserved Domains (1) summary
      pfam00797
      Location:20 → 280
      Acetyltransf_2; N-acetyltransferase

    10. NM_001291962.2 → NP_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, Q9HAQ5
      Conserved Domains (1) summary
      pfam00797
      Location:82 → 342
      Acetyltransf_2; N-acetyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      18170467..18223689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422397.1 → XP_047278353.1  arylamine N-acetyltransferase 1 isoform X1

      UniProtKB/TrEMBL
      F5H5R8, Q9HAQ5

    2. XM_047422398.1 → XP_047278354.1  arylamine N-acetyltransferase 1 isoform X1

      UniProtKB/TrEMBL
      F5H5R8, Q9HAQ5

    3. XM_047422399.1 → XP_047278355.1  arylamine N-acetyltransferase 1 isoform X2

      UniProtKB/Swiss-Prot
      A8K4E7, O15159, O15300, P18440, Q546N1, Q96TE9
      UniProtKB/TrEMBL
      Q9HAQ5

    4. XM_006716410.4 → XP_006716473.1  arylamine N-acetyltransferase 1 isoform X2

      See identical proteins and their annotated locations for XP_006716473.1

      UniProtKB/Swiss-Prot
      A8K4E7, O15159, O15300, P18440, Q546N1, Q96TE9
      UniProtKB/TrEMBL
      Q9HAQ5
      Conserved Domains (1) summary
      pfam00797
      Location:20 → 280
      Acetyltransf_2; N-acetyltransferase

    5. XM_011544689.3 → XP_011542991.1  arylamine N-acetyltransferase 1 isoform X2

      See identical proteins and their annotated locations for XP_011542991.1

      UniProtKB/Swiss-Prot
      A8K4E7, O15159, O15300, P18440, Q546N1, Q96TE9
      UniProtKB/TrEMBL
      Q9HAQ5
      Conserved Domains (1) summary
      pfam00797
      Location:20 → 280
      Acetyltransf_2; N-acetyltransferase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      18437966..18491198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361457.1 → XP_054217432.1  arylamine N-acetyltransferase 1 isoform X1

      UniProtKB/TrEMBL
      F5H5R8, Q9HAQ5

    2. XM_054361458.1 → XP_054217433.1  arylamine N-acetyltransferase 1 isoform X1

      UniProtKB/TrEMBL
      F5H5R8, Q9HAQ5

    3. XM_054361459.1 → XP_054217434.1  arylamine N-acetyltransferase 1 isoform X2

      UniProtKB/Swiss-Prot
      A8K4E7, O15159, O15300, P18440, Q546N1, Q96TE9
      UniProtKB/TrEMBL
      Q9HAQ5

    4. XM_054361460.1 → XP_054217435.1  arylamine N-acetyltransferase 1 isoform X2

      UniProtKB/Swiss-Prot
      A8K4E7, O15159, O15300, P18440, Q546N1, Q96TE9
      UniProtKB/TrEMBL
      Q9HAQ5

    5. XM_054361461.1 → XP_054217436.1  arylamine N-acetyltransferase 1 isoform X2

      UniProtKB/Swiss-Prot
      A8K4E7, O15159, O15300, P18440, Q546N1, Q96TE9
      UniProtKB/TrEMBL
      Q9HAQ5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P18440.2 GenPept UniProtKB/Swiss-Prot:P18440

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