NQO1

Gene Information
 
Gene Symbol
NQO1
 
Aliases
DHQU, DIA4, DTD, NMOR1, NMORI, QR1
 
Entrez Gene ID
 
Gene Name
NAD(P)H quinone dehydrogenase 1
 
Chromosomal Location
16q22.1
 
HGNC ID
 
Summary
This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006805 Biological process Xenobiotic metabolic process TAS 10393963
GO:0006809 Biological process Nitric oxide biosynthetic process TAS 9579781
GO:0007271 Biological process Synaptic transmission, cholinergic TAS 9579781
GO:0009636 Biological process Response to toxic substance TAS 10393963
GO:0005737 Cellular component Cytoplasm TAS 2843525
Protein Information
 
Protein Name
NAD(P)H dehydrogenase [quinone] 1, DT-diaphorase, NAD(P)H dehydrogenase, quinone 1, NAD(P)H:Quinone acceptor oxidoreductase type 1, NAD(P)H:menadione oxidoreductase 1, NAD(P)H:quinone oxidoreductase 1, NAD(P)H:quinone oxireductase, azoreductase, diaphorase (NADH/NADPH) (cytochrome b-5 reductase), diaphorase-4, dioxin-inducible 1, menadione reductase, phylloquinone reductase, quinone reductase 1
 
Function
The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinons involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF02525 Flavodoxin_2
Pathways
 
KEGG
 
Reactome
 

Ubiquinone and other terpenoid-quinone biosynthesis
Metabolic pathways
Pathways in cancer
Hepatocellular carcinoma
Fluid shear stress and atherosclerosis

 

Regulation of ornithine decarboxylase (ODC)

Interactions
 
STRING MINT IntAct
ENSP00000238738 P17081
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Digestive System Diseases
Liver Diseases
Cholestasis
Endocrine System Diseases
PCOS
Neoplasms
Prostate cancer
Colorectal Cancer
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
SLPI, GJB2, DNAJC15, S100A8, PLEKHS1, ESPN, RSPH1, KRT5, FOXJ1, IFI27, IFI6, LGR5, MUC16 
PCOS, obesity, infrequent menstrual periods, infertility, excess systemic androgens, insulin resistance and hirsutism, and enlarged ovaries with multiple small follicles 
 
Rotterdam European Society for Human Reproduction and Embryology (ESHRE) and the American Society of Reproductive Medicine (ASRM) criteria 
Related 
26 PCOS women, 25 endometrial cancer women, 25 control women 
The results obtained here support a previously unrecognized molecular link betweenPCOSandendometrial cancer involvingNQO1. 

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