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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]
NQO1 (NAD(P)H Quinone Dehydrogenase 1) is a Protein Coding gene. Diseases associated with NQO1 include Tardive Dyskinesia and Lung Cancer. Among its related pathways are Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway and Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity. An important paralog of this gene is NQO2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0003955 | NAD(P)H dehydrogenase (quinone) activity | IBA | 21873635 |
GO:0004128 | cytochrome-b5 reductase activity, acting on NAD(P)H | TAS | 9579781 |
GO:0004784 | superoxide dismutase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 18388957 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | TAS | 2843525 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0030425 | dendrite | IEA | -- |
GO:0043025 | neuronal cell body | IEA | -- |
GO:0045202 | synapse | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
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2 | Doxorubicin Pathway, Pharmacokinetics | ||
3 | Regulation of activated PAK-2p34 by proteasome mediated degradation | ||
4 | Apoptosis and Autophagy | ||
5 | Glucose / Energy Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006521 | regulation of cellular amino acid metabolic process | TAS | -- |
GO:0006801 | superoxide metabolic process | IEA | -- |
GO:0006805 | xenobiotic metabolic process | TAS | 10393963 |
GO:0006809 | nitric oxide biosynthetic process | TAS | 9579781 |
GO:0006979 | response to oxidative stress | IEP | 21636573 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Dicumarol | Approved | Pharma | Target, inhibitor | 0 | ||
Menadione | Approved | Nutra | Target, inhibitor | 327 | ||
FAD | Approved | Pharma | Target | 0 | ||
Vitamin E | Approved, Vet_approved | Nutra | Enzyme, inducer | 526,534 | ||
Cisplatin | Approved | Pharma | Enzyme, substrate | Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum | 3412 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Quinone |
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106-51-4 | ||||
Hydrogen Ion |
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Menaquinol |
|
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||||
Phylloquinol |
|
572-96-3 |
|
Compound | Action | Cas Number |
---|---|---|
Dicoumarol | 66-76-2 | |
DMXAA (Vadimezan) | Tumnor vascular disrupting agent, apoptosis inducer | 117570-53-3 |
ES 936 | 192820-78-3 | |
Oltipraz | An antischistosomal agent | 64224-21-1 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NQO1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NQO1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nqo1 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NQO1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nqo1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | NQO1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NQO1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NQO1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NQO1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nqo1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nqo1 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8645 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
741777 | Likely Benign: not provided | 69,711,216(-) | G/A | SYNONYMOUS_VARIANT | |
780185 | Benign: not provided | 69,710,994(-) | C/G | MISSENSE_VARIANT | |
rs1555537451 | Likely Pathogenic: not provided | 69,711,254(-) | G/A | NONSENSE | |
rs1800566 | Drug Response: Lung cancer; Benzene toxicity, susceptibility to; Leukemia, post-chemotherapy, susceptibility to; Breast cancer, post-chemotherapy poor survival in; Alkylating Agents, anthracyclines and related substances, fluorouracil, and Platinum compounds response - Efficacy. - | 69,711,242(-) | G/Ap.Pro187Ser | MISSENSE_VARIANT | |
rs1131341 | - | p.Arg139Trp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3638928 | CNV | gain | 21293372 |
esv3638929 | CNV | gain | 21293372 |
esv3892878 | CNV | gain | 25118596 |
nsv517207 | CNV | loss | 19592680 |
nsv524364 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
tardive dyskinesia |
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lung cancer |
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colon adenocarcinoma |
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colorectal cancer |
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alcoholic pancreatitis |
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