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

Gene ID: 9, updated on 27-Nov-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: 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

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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

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

    UniProtKB/TrEMBL
    F5H5R8

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

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

  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

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

    UniProtKB/TrEMBL
    F5H5R8

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

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

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

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

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

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

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