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Gene Symbol |
NQO1 |
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Aliases |
DHQU, DIA4, DTD, NMOR1, NMORI, QR1 |
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Entrez Gene ID |
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Gene Name |
NAD(P)H quinone dehydrogenase 1 |
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Chromosomal Location |
16q22.1 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Protein Information |
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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 |
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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 |
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UniProt |
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PDB |
1D4A, 1DXO, 1GG5, 1H66, 1H69, 1KBO, 1KBQ, 1QBG, 2F1O, 3JSX, 4CET, 4CF6, 5A4K, 5EA2, 5EAI, 5FUQ, 6FY4 |
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Pfam |
Pfam Accession |
Pfam ID |
PF02525 |
Flavodoxin_2 |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000238738 |
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P17081 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Digestive System Diseases |
Liver Diseases |
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Cholestasis |
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Endocrine System Diseases |
PCOS |
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Neoplasms |
Prostate cancer |
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Colorectal Cancer |
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Lung Cancer |
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Myeloid Leukemia |
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Bladder Cancer |
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Leukemia |
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Breast Cancer |
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Papilloma |
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Lymphoma |
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Multiple Myeloma |
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Nervous System Diseases |
Parkinson Disease |
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Spinocerebellar ataxia |
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Nutritional and Metabolic Diseases |
Obesity |
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Hyperglycemia |
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Psychiatric/Brain disorders |
Schizophrenia |
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Mood Disorders |
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Renal Disorder |
Hemolytic-Uremic Syndrome |
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Kidney Failure |
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Kidney Insufficiency |
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Reproductive disorders |
Preeclampsia |
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Respiratory Tract Diseases |
Asthma |
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Skin and Connective Tissue Diseases |
Dermatitis |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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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 |
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Rotterdam European Society for Human Reproduction and Embryology (ESHRE) and the American Society of Reproductive Medicine (ASRM) criteria |
Related
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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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