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

Gene ID: 9, updated on 13-Feb-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, ENST00000307719.8
    Conserved Domains (1) summary
    pfam00797
    Location:20280
    Acetyltransf_2; N-acetyltransferase
  2. NM_001160170.3NP_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_001160171.3NP_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_001160172.3NP_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_001160175.3NP_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_001160176.3NP_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_001160179.2NP_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_001291962.1NP_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.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 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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