Human Gene NAT1 (ENST00000307719.9_4) from GENCODE V47lift37
  Description: N-acetyltransferase 1, transcript variant 9 (from RefSeq NM_001160179.3)
Gencode Transcript: ENST00000307719.9_4
Gencode Gene: ENSG00000171428.15_7
Transcript (Including UTRs)
   Position: hg19 chr8:18,067,618-18,081,198 Size: 13,581 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr8:18,079,557-18,080,429 Size: 873 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:18,067,618-18,081,198)mRNA (may differ from genome)Protein (290 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ARY1_HUMAN
DESCRIPTION: RecName: Full=Arylamine N-acetyltransferase 1; EC=2.3.1.5; AltName: Full=Arylamide acetylase 1; AltName: Full=Monomorphic arylamine N-acetyltransferase; Short=MNAT; AltName: Full=N-acetyltransferase type 1; Short=NAT-1;
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.
SUBCELLULAR LOCATION: Cytoplasm.
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.
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.
SIMILARITY: Belongs to the arylamine N-acetyltransferase family.
CAUTION: The allelic variation Ile-149 designated as NAT1*17 is part of the NAT1*11 allelic variation as reported by the nomenclature committee.
WEB RESOURCE: Name=NAT; Note=NAT alleles; URL="http://www.louisville.edu/medschool/pharmacology/NAT.html";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/nat1/";
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=NAT1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NAT1
Diseases sorted by gene-association score: ascending cholangitis (11), urinary bladder cancer (9), colorectal adenoma (6), neural tube defects (5), colorectal cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.02 RPKM in Colon - Transverse
Total median expression: 41.17 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.70157-0.253 Picture PostScript Text
3' UTR -142.00769-0.185 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001447 - Arylamine_N-AcTrfase

Pfam Domains:
PF00797 - N-acetyltransferase

SCOP Domains:
53335 - S-adenosyl-L-methionine-dependent methyltransferases
54001 - Cysteine proteinases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DSS - Model 2GWU - Model 2IJA - X-ray MuPIT 2PQT - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P18440
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004060 arylamine N-acetyltransferase activity
GO:0016407 acetyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups

Biological Process:
GO:0006805 xenobiotic metabolic process
GO:0008152 metabolic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AJ581152 - Homo sapiens mRNA for arylamine N-acetyltransferase 1 (NAT1 gene), exon 4.
BC047666 - Homo sapiens N-acetyltransferase 1 (arylamine N-acetyltransferase), mRNA (cDNA clone MGC:51749 IMAGE:6059458), complete cds.
BX647521 - Homo sapiens mRNA; cDNA DKFZp686D09211 (from clone DKFZp686D09211).
BC013732 - Homo sapiens, similar to N-acetyltransferase 1 (arylamine N-acetyltransferase), clone IMAGE:3859245, mRNA.
AJ581135 - Homo sapiens partial mRNA for arylamine N-acetyltransferase 1 (NAT1 gene) exons 4,8 and 9.
AJ581136 - Homo sapiens partial mRNA for arylamine N-acetyltransferase 1 (NAT1 gene), exons 5, 8 and 9.
AJ581137 - Homo sapiens partial mRNA for arylamine N-acetyltransferase 1 (NAT1 gene), exons 5, 6a, 8 and 9.
AJ581138 - Homo sapiens partial mRNA for arylamine N-acetyltransferase 1 (NAT1 gene), exons 5, 6b, 8 and 9.
AJ581139 - Homo sapiens partial mRNA for arylamine N-acetyltransferase 1 (NAT1 gene), exons 5, 7, 8 and 9.
AK290912 - Homo sapiens cDNA FLJ77099 complete cds, highly similar to Homo sapiens N-acetyltransferase 1 (arylamine N-acetyltransferase) (NAT1), mRNA.
AJ581157 - Homo sapiens mRNA for arylamine N-acetyltransferase 1 (NAT1 gene), exon 8.
AJ581140 - Homo sapiens partial mRNA for arylamine N-acetyltransferase 1 (NAT1 gene), exons 8 and 9.
JD350710 - Sequence 331734 from Patent EP1572962.
AJ581141 - Homo sapiens partial mRNA for arylamine N-acetyltransferase 1 (NAT1 gene), partial coding region and 5'UTR.
D90041 - Homo sapiens mRNA for arylamine N-acetyltransferase, complete cds.
CU690446 - Synthetic construct Homo sapiens gateway clone IMAGE:100021323 5' read NAT1 mRNA.
EU832479 - Synthetic construct Homo sapiens clone HAIB:100067508; DKFZo008D0829 N-acetyltransferase 1 (arylamine N-acetyltransferase) protein (NAT1) gene, encodes complete protein.
EU832559 - Synthetic construct Homo sapiens clone HAIB:100067588; DKFZo004D0830 N-acetyltransferase 1 (arylamine N-acetyltransferase) protein (NAT1) gene, encodes complete protein.
HQ448565 - Synthetic construct Homo sapiens clone IMAGE:100072003; CCSB011616_01 N-acetyltransferase 1 (arylamine N-acetyltransferase) (NAT1) gene, encodes complete protein.
KJ890607 - Synthetic construct Homo sapiens clone ccsbBroadEn_00001 NAT1 gene, encodes complete protein.
KR711059 - Synthetic construct Homo sapiens clone CCSBHm_00019486 NAT1 (NAT1) mRNA, encodes complete protein.
KR711060 - Synthetic construct Homo sapiens clone CCSBHm_00019489 NAT1 (NAT1) mRNA, encodes complete protein.
KR711061 - Synthetic construct Homo sapiens clone CCSBHm_00019490 NAT1 (NAT1) mRNA, encodes complete protein.
AJ581142 - Homo sapiens partial mRNA for arylamine N-acetyltransferase (NAT1 gene), partial coding region and short 3'UTR.
AJ581143 - Homo sapiens partial mRNA for arylamine N-acetyltransferase 1 (NAT1 gene), partial CDS and long 3'UTR.
S78829 - NATI (NATI*10)=acetyltransferase 1 {3' region, polyadenylation polymorphism} [human, unrelated Caucasians, mRNA Partial Mutant, 300 nt].
JD249068 - Sequence 230092 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_iresPathway - Internal Ribosome entry pathway
h_eifPathway - Eukaryotic protein translation
h_eif4Pathway - Regulation of eIF4e and p70 S6 Kinase
h_mTORPathway - mTOR Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein P18440 (Reactome details) participates in the following event(s):

R-HSA-174959 The acetyl group from acetyl-CoA is transferred to the NAT1
R-HSA-174963 NAT1 acetylation
R-HSA-156582 Acetylation
R-HSA-156580 Phase II - Conjugation of compounds
R-HSA-211859 Biological oxidations
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4E7, AAC1, ARY1_HUMAN, ENST00000307719.1, ENST00000307719.2, ENST00000307719.3, ENST00000307719.4, ENST00000307719.5, ENST00000307719.6, ENST00000307719.7, ENST00000307719.8, NM_001160179, O15159, O15300, P18440, Q546N1, Q96TE9, uc317odd.1, uc317odd.2
UCSC ID: ENST00000307719.9_4
RefSeq Accession: NM_000662.8
Protein: P18440 (aka ARY1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.