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Aliases for NAT1 Gene

Aliases for NAT1 Gene

  • N-Acetyltransferase 1 2 3
  • N-Acetyltransferase 1 (Arylamine N-Acetyltransferase) 2 3 5
  • 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 61
  • 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

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 Orthostatic Intolerance and Urinary Bladder Cancer. Among its related pathways are Caffeine Pathway, Pharmacokinetics and Phase II conjugation. 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

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

Genomics for NAT1 Gene

Regulatory Elements for NAT1 Gene

Enhancers for NAT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around NAT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NAT1 Gene

Chromosome:
8
Start:
18,170,462 bp from pter
End:
18,223,689 bp from pter
Size:
53,228 bases
Orientation:
Plus strand

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

Post-translational modifications for NAT1 Gene

  • Ubiquitination at Lys 18
  • Modification sites at PhosphoSitePlus

Domains & Families for NAT1 Gene

Gene Families for NAT1 Gene

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

Gene Ontology (GO) - Molecular Function for NAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004060 arylamine N-acetyltransferase activity TAS --
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

CRISPR Products

miRNA for NAT1 Gene

miRTarBase miRNAs that target NAT1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NAT1

Flow Cytometry Products

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
Jensen Localization Image for NAT1 Gene COMPARTMENTS Subcellular localization image for NAT1 gene
Compartment Confidence
cytosol 5
nucleus 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NAT1 Gene

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

Pathways & Interactions for NAT1 Gene

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

Pathways by source for NAT1 Gene

Interacting Proteins 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 --
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 157
Isoniazid Approved Pharma 146
Abequose Experimental Pharma Target 0
Beta-D-Glucose Experimental Pharma Target 0
Tyvelose Experimental Pharma Target 0

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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NAT1

Flow Cytometry Products

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 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
genes like me logo Genes that share expression patterns with NAT1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia NAT1 34
  • 84.48 (n)
  • 82.76 (a)
NAT1 35
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Nat2 34
  • 83.22 (n)
  • 82.07 (a)
Nat2 16
Nat1 35
  • 75 (a)
ManyToMany
Nat2 35
  • 82 (a)
ManyToMany
Nat3 35
  • 68 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia NAT1 34
  • 97.43 (n)
  • 96.64 (a)
NAT1 35
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nat2 34
  • 83.91 (n)
  • 81.38 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 69 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves PNAT10 34
  • 64.02 (n)
  • 57.93 (a)
NAT 35
  • 46 (a)
ManyToMany
PNAT10 35
  • 58 (a)
ManyToMany
PNAT3 35
  • 53 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 53 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii LOC794381 34
  • 52.28 (n)
  • 43.15 (a)
si:dkey-78a14.4 35
  • 44 (a)
ManyToMany
si:dkey-78a14.5 35
  • 42 (a)
ManyToMany
si:rp71-1f1.4 35
  • 32 (a)
ManyToMany
si:rp71-1f1.5 35
  • 34 (a)
ManyToMany
si:rp71-1f1.6 35
  • 33 (a)
ManyToMany
zgc:101040 35
  • 40 (a)
ManyToMany
zgc:103601 35
  • 42 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
ManyToMany
-- 35
  • 32 (a)
ManyToMany
-- 35
  • 27 (a)
ManyToMany
-- 35
  • 20 (a)
ManyToMany
CSA.3273 35
  • 21 (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 Sequence Context AA Info Type
rs56379106 - 18,222,237(+) GAAAT(C/T)GGGGT reference, missense
rs4987076 - 18,222,492(+) CTTGT(A/G)TCTTC reference, missense
rs4986782 - 18,222,607(+) ATACY(A/G)AAAAA reference, missense
rs72554609 - 18,222,660(+) AGTCT(A/G)TGAAT reference, missense
rs4986783 - 18,222,687(+) CTCCA(G/T)CATCT reference, missense

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)

Relevant External Links 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

(6) MalaCards diseases for NAT1 Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
orthostatic intolerance
  • neurocirculatory asthenia
urinary bladder cancer
  • bladder cancer
colorectal adenoma
  • adenoma of large intestine
neural tube defects
  • spina bifida
larynx cancer
  • laryngeal neoplasms
- elite association - COSMIC cancer census association via MalaCards
Search NAT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NAT1

Genetic Association Database (GAD)
NAT1
Human Genome Epidemiology (HuGE) Navigator
NAT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAT1
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) CatalA!n J. … Norppa H. (Environ. Mol. Mutagen. 2009) 3 22 46 65
  2. Para-phenylenediamine and allergic sensitization: risk modification by N-acetyltransferase 1 and 2 genotypes. (PMID: 19663877) BlAPmeke B. … Kawakubo Y. (Br. J. Dermatol. 2009) 3 22 46 65
  3. Modification by N-acetyltransferase 1 genotype on the association between dietary heterocyclic amines and colon cancer in a multiethnic study. (PMID: 18022202) Butler L.M. … Sandler R.S. (Mutat. Res. 2008) 3 22 46 65
  4. NAT1 genotypes do not predict response to mesalamine in patients with ulcerative colitis. (PMID: 18322880) Hausmann M. … Rogler G. (Z Gastroenterol 2008) 3 22 46 65
  5. N-acetyltransferase 1 in colon and rectal cancer cases from an industrialized area. (PMID: 18569593) Roemer H.C. … Golka K. (J. Toxicol. Environ. Health Part A 2008) 3 22 46 65

Products for NAT1 Gene

Sources for NAT1 Gene

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