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Aliases for NAT1 Gene

Aliases for NAT1 Gene

  • N-Acetyltransferase 1 2 3 5
  • N-Acetyltransferase 1 (Arylamine N-Acetyltransferase) 2 3
  • Monomorphic Arylamine N-Acetyltransferase 3 4
  • Arylamine N-Acetyltransferase 1 2 3
  • N-Acetyltransferase Type 1 3 4
  • Arylamide Acetylase 1 3 4
  • EC 2.3.1.5 4 56
  • NAT-1 3 4
  • AAC1 3 4
  • MNAT 3 4
  • NATI 3

External Ids for NAT1 Gene

Previous HGNC Symbols for NAT1 Gene

  • AAC1

Previous GeneCards Identifiers for NAT1 Gene

  • GC08P017943
  • GC08P018130
  • GC08P018077
  • GC08P018111
  • GC08P016611
  • GC08P018029
  • GC08P018031
  • GC08P018041
  • GC08P018172
  • GC08P018173
  • GC08P018174
  • GC08P018175
  • GC08P018176
  • GC08P018177
  • GC08P018178

Summaries for NAT1 Gene

Entrez Gene Summary for NAT1 Gene

  • 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]

GeneCards Summary for NAT1 Gene

NAT1 (N-Acetyltransferase 1) is a Protein Coding gene. Diseases associated with NAT1 include Ascending Cholangitis and Colorectal Adenoma. Among its related pathways are Drug metabolism - cytochrome P450 and Metabolism. Gene Ontology (GO) annotations related to this gene include acetyltransferase activity and arylamine N-acetyltransferase activity. An important paralog of this gene is NAT2.

UniProtKB/Swiss-Prot for NAT1 Gene

  • 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.

Gene Wiki entry for NAT1 Gene

Additional gene information for NAT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAT1 Gene

Genomics for NAT1 Gene

GeneHancer (GH) Regulatory Elements for NAT1 Gene

Promoters and enhancers for NAT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I018209 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.3 +39.7 39708 1.4 SMAD1 ATF1 ARID4B SIN3A YY1 ETS1 POLR2B ZNF143 ATF7 SP3 GC08P018211 GC08P018213 GC08P018214 GC08P018217 NAT1
GH08I018170 Enhancer 0.7 ENCODE 550.8 +0.3 330 0.9 ZNF3 FOXA2 RXRA TAF1 MAX REST PPARG FOXA1 YY1 JUND GC08P018170 GC08P018171 NAT1 MTND4LP26
GH08I017732 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 2.1 -434.6 -434585 6.5 ARID4B SIN3A FEZF1 BATF ZNF2 IRF4 RAD21 ZNF335 ZNF366 SCRT2 ENSG00000253215 FGL1 NAT1 GC08P017724 GC08P017749 MTUS1
GH08I018665 Enhancer 1.3 FANTOM5 Ensembl ENCODE 2.4 +496.1 496130 2 FOXA2 KLF17 BRCA1 RARA YY1 GTF3C2 ZNF335 POLR3A KLF7 THAP11 GC08M018601 NAT1 NAT2 GC08M018701 PSD3
GH08I018031 Enhancer 0.5 FANTOM5 3.4 -139.3 -139254 0.2 TEAD4 TAL1 CBFA2T3 ENSG00000253671 ASAH1 NAT1 LOC101929066 PCM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NAT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NAT1 gene promoter:

Genomic Locations for NAT1 Gene

Genomic Locations for NAT1 Gene
chr8:18,170,462-18,223,689
(GRCh38/hg38)
Size:
53,228 bases
Orientation:
Plus strand
chr8:18,027,986-18,081,198
(GRCh37/hg19)

Genomic View for NAT1 Gene

Genes around NAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAT1 Gene

Proteins for NAT1 Gene

  • Protein details for NAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18440-ARY1_HUMAN
    Recommended name:
    Arylamine N-acetyltransferase 1
    Protein Accession:
    P18440
    Secondary Accessions:
    • A8K4E7
    • O15159
    • O15300
    • Q546N1
    • Q96TE9

    Protein attributes for NAT1 Gene

    Size:
    290 amino acids
    Molecular mass:
    33899 Da
    Quaternary structure:
    No Data Available
    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.

    Three dimensional structures from OCA and Proteopedia for NAT1 Gene

neXtProt entry for NAT1 Gene

Selected DME Specific Peptides for NAT1 Gene

P18440:
  • YIVDAGFG
  • IEDFESMNTYLQTSP
  • SFCSLQT
  • RGGWCLQVN
  • GVHCLVG
  • GFETTMLGG
  • ILQHQIRA
  • WYLDQIRR
  • PFENLNIHCG

Post-translational modifications for NAT1 Gene

Domains & Families for NAT1 Gene

Gene Families for NAT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for NAT1 Gene

Graphical View of Domain Structure for InterPro Entry

P18440

UniProtKB/Swiss-Prot:

ARY1_HUMAN :
  • Belongs to the arylamine N-acetyltransferase family.
Family:
  • Belongs to the arylamine N-acetyltransferase family.
genes like me logo Genes that share domains with NAT1: view

Function for NAT1 Gene

Molecular function for NAT1 Gene

GENATLAS Biochemistry:
arylamine N-acetyltransferase 1,widely expressed,monomorphic,also involved in bladder carcinogenesis
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an arylamine = CoA + an N-acetylarylamine.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for NAT1 Gene

Phenotypes From GWAS Catalog for NAT1 Gene

Gene Ontology (GO) - Molecular Function for NAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004060 arylamine N-acetyltransferase activity TAS --
GO:0016407 acetyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with NAT1: view
genes like me logo Genes that share phenotypes with NAT1: view

Animal Models for NAT1 Gene

MGI Knock Outs for NAT1:

Animal Model Products

miRNA for NAT1 Gene

miRTarBase miRNAs that target NAT1

Clone Products

  • Addgene plasmids for NAT1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NAT1 Gene

Localization for NAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAT1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAT1 gene
Compartment Confidence
cytosol 5
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NAT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NAT1 Gene

Pathways & Interactions for NAT1 Gene

genes like me logo Genes that share pathways with NAT1: view

Pathways by source for NAT1 Gene

Gene Ontology (GO) - Biological Process for NAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with NAT1: view

No data available for SIGNOR curated interactions for NAT1 Gene

Drugs & Compounds for NAT1 Gene

(22) Drugs for NAT1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sulfamethoxazole Approved Pharma Enzyme, substrate 169
Isoniazid Approved, Investigational Pharma 164
Abequose Experimental Pharma Target 0
Beta-D-Glucose Experimental Pharma Target 0
Tyvelose Experimental Pharma Target 0

(44) Additional Compounds for NAT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
2,4-Diamino-6-nitrotoluene
3-Aminosalicylic acid
  • 3-Amino Salicylate
  • 3-Amino Salicylic acid
  • 3-Amino-(8CI)salicylate
  • 3-Amino-(8CI)salicylic acid
  • 3-Amino-2-hydroxy-(9CI)benzoate
570-23-0
4-Acetamido-2-amino-6-nitrotoluene
5-Acetylamino-6-formylamino-3-methyluracil
genes like me logo Genes that share compounds with NAT1: view

Transcripts for NAT1 Gene

Unigene Clusters for NAT1 Gene

N-acetyltransferase 1 (arylamine N-acetyltransferase):
Representative Sequences:

Clone Products

  • Addgene plasmids for NAT1

Alternative Splicing Database (ASD) splice patterns (SP) for NAT1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f
SP1: - - - - - -
SP2: - - - -
SP3: - - -
SP4: - - -
SP5: - -
SP6: -
SP7: - -
SP8: - - - - - - -
SP9: - - - - -

Relevant External Links for NAT1 Gene

GeneLoc Exon Structure for
NAT1
ECgene alternative splicing isoforms for
NAT1

Expression for NAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NAT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NAT1 Gene

This gene is overexpressed in Colon - Transverse (x5.2) and Liver (x4.8).

Protein differential expression in normal tissues from HIPED for NAT1 Gene

This gene is overexpressed in Breast (35.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NAT1 Gene



Protein tissue co-expression partners for NAT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NAT1 Gene:

NAT1

SOURCE GeneReport for Unigene cluster for NAT1 Gene:

Hs.591847

Evidence on tissue expression from TISSUES for NAT1 Gene

  • Liver(4.5)
  • Blood(4.3)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with NAT1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NAT1 Gene

Orthologs for NAT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAT1 33 34
  • 97.43 (n)
cow
(Bos Taurus)
Mammalia NAT1 33 34
  • 84.48 (n)
rat
(Rattus norvegicus)
Mammalia Nat2 33
  • 83.91 (n)
mouse
(Mus musculus)
Mammalia Nat2 33 16 34
  • 83.22 (n)
Nat1 34
  • 75 (a)
ManyToMany
Nat3 34
  • 68 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 69 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves PNAT10 33 34
  • 64.02 (n)
PNAT3 34
  • 53 (a)
ManyToMany
NAT 34
  • 46 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 53 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii LOC794381 33
  • 52.28 (n)
si:dkey-78a14.4 34
  • 44 (a)
ManyToMany
si:dkey-78a14.5 34
  • 42 (a)
ManyToMany
zgc:103601 34
  • 42 (a)
ManyToMany
zgc:101040 34
  • 40 (a)
ManyToMany
si:rp71-1f1.5 34
  • 34 (a)
ManyToMany
si:rp71-1f1.6 34
  • 33 (a)
ManyToMany
si:rp71-1f1.4 34
  • 32 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
-- 34
  • 27 (a)
ManyToMany
CSA.3273 34
  • 21 (a)
ManyToMany
-- 34
  • 20 (a)
ManyToMany
Species where no ortholog for NAT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NAT1 Gene

ENSEMBL:
Gene Tree for NAT1 (if available)
TreeFam:
Gene Tree for NAT1 (if available)

Paralogs for NAT1 Gene

Paralogs for NAT1 Gene

(1) SIMAP similar genes for NAT1 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for NAT1 Gene

genes like me logo Genes that share paralogs with NAT1: view

Variants for NAT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for NAT1 Gene

ARY1_HUMAN-P18440
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 (PubMed:7585580).

Sequence variations from dbSNP and Humsavar for NAT1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs4987076 other, benign, NAT1*17 ALLELE, not specified 18,222,492(+) G/A/C coding_sequence_variant, missense_variant
rs56379106 benign, not specified 18,222,237(+) C/T coding_sequence_variant, missense_variant
rs1000017352 -- 18,214,064(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000052990 -- 18,185,717(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000082046 -- 18,185,510(+) C/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NAT1 Gene

Variant ID Type Subtype PubMed ID
dgv12046n54 CNV gain 21841781
esv2666024 CNV deletion 23128226
esv2761170 CNV loss 21179565
esv3616514 CNV gain 21293372
esv3616516 CNV loss 21293372
esv3616517 CNV loss 21293372
nsv1025858 CNV loss 25217958
nsv1026366 CNV gain 25217958
nsv428196 CNV gain 18775914
nsv475616 CNV novel sequence insertion 20440878
nsv522647 CNV loss 19592680
nsv831251 CNV loss 17160897

Variation tolerance for NAT1 Gene

Residual Variation Intolerance Score: 51.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.14; 38.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NAT1 Gene

Human Gene Mutation Database (HGMD)
NAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAT1

Disorders for NAT1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NAT1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ascending cholangitis
colorectal adenoma
  • adenoma of large intestine
neural tube defects
  • neural tube defects, susceptibility to
bladder cancer
  • bladder cancer, somatic
colorectal cancer
  • crc
- elite association - COSMIC cancer census association via MalaCards
Search NAT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NAT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NAT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NAT1 Gene

Publications for NAT1 Gene

  1. Chromosomal aberrations in railroad transit workers: effect of genetic polymorphisms. (PMID: 19177501) Catalán J … Norppa H (Environmental and molecular mutagenesis 2009) 3 22 44 58
  2. Para-phenylenediamine and allergic sensitization: risk modification by N-acetyltransferase 1 and 2 genotypes. (PMID: 19663877) Blömeke B … Kawakubo Y (The British journal of dermatology 2009) 3 22 44 58
  3. Modification by N-acetyltransferase 1 genotype on the association between dietary heterocyclic amines and colon cancer in a multiethnic study. (PMID: 18022202) Butler LM … Sandler RS (Mutation research 2008) 3 22 44 58
  4. Meat intake, heterocyclic amine exposure, and metabolizing enzyme polymorphisms in relation to colorectal polyp risk. (PMID: 18268115) Shin A … Zheng W (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 22 44 58
  5. NAT1 genotypes do not predict response to mesalamine in patients with ulcerative colitis. (PMID: 18322880) Hausmann M … Rogler G (Zeitschrift fur Gastroenterologie 2008) 3 22 44 58

Products for NAT1 Gene

Sources for NAT1 Gene

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